{"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for High Blood Pressure ?"}, {"role": "assistant", "content": "Today, many different types of medicines are available to control high blood pressure. These medicines work in different ways. Some lower blood pressure by removing extra fluid and salt from your body. Others affect blood pressure by slowing down the heartbeat, or by relaxing and widening blood vessels. Often, two or more drugs work better than one. Here are the types of medicines used to treat high blood pressure. - Diuretics (water or fluid Pills) flush excess sodium from your body, which reduces the amount of fluid in your blood and helps to lower your blood pressure. Diuretics are often used with other high blood pressure medicines, sometimes in one combined pill. - Beta Blockers help your heart beat slower and with less force. As a result, your heart pumps less blood through your blood vessels, which can help to lower your blood pressure. - Angiotensin-Converting Enzyme (ACE) Inhibitors. Angiotensin-II is a hormone that narrows blood vessels, increasing blood pressure. ACE converts Angiotensin I to Angiotensin II. ACE inhibitors block this process, which stops the production of Angiotensin II, lowering blood pressure. - Angiotensin II Receptor Blockers (ARBs) block angiotensin II hormone from binding with receptors in the blood vessels. When angiotensin II is blocked, the blood vessels do not constrict or narrow, which can lower your blood pressure. - Calcium Channel Blockers keep calcium from entering the muscle cells of your heart and blood vessels. This allows blood vessels to relax, which can lower your blood pressure. - Alpha Blockers reduce nerve impulses that tighten blood vessels. This allows blood to flow more freely, causing blood pressure to go down. - Alpha-Beta Blockers reduce nerve impulses the same way alpha blockers do. However, like beta blockers, they also slow the heartbeat. As a result, blood pressure goes down. - Central Acting Agents act in the brain to decrease nerve signals that narrow blood vessels, which can lower blood pressure. - Vasodilators relax the muscles in blood vessel walls, which can lower blood pressure. Diuretics (water or fluid Pills) flush excess sodium from your body, which reduces the amount of fluid in your blood and helps to lower your blood pressure. Diuretics are often used with other high blood pressure medicines, sometimes in one combined pill. Beta Blockers help your heart beat slower and with less force. As a result, your heart pumps less blood through your blood vessels, which can help to lower your blood pressure. Angiotensin-Converting Enzyme (ACE) Inhibitors. Angiotensin-II is a hormone that narrows blood vessels, increasing blood pressure. ACE converts Angiotensin I to Angiotensin II. ACE inhibitors block this process, which stops the production of Angiotensin II, lowering blood pressure. Angiotensin II Receptor Blockers (ARBs) block angiotensin II hormone from binding with receptors in the blood vessels. When angiotensin II is blocked, the blood vessels do not constrict or narrow, which can lower your blood pressure. Calcium Channel Blockers keep calcium from entering the muscle cells of your heart and blood vessels. This allows blood vessels to relax, which can lower your blood pressure. Alpha Blockers reduce nerve impulses that tighten blood vessels. This allows blood to flow more freely, causing blood pressure to go down. Alpha-Beta Blockers reduce nerve impulses the same way alpha blockers do. However, like beta blockers, they also slow the heartbeat. As a result, blood pressure goes down. Central Acting Agents act in the brain to decrease nerve signals that narrow blood vessels, which can lower blood pressure. Vasodilators relax the muscles in blood vessel walls, which can lower blood pressure.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for 21-hydroxylase deficiency ?"}, {"role": "assistant", "content": "What is the goal for treating 21-hydroxylase-deficient congenital adrenal hyperplasia? The objectives for treating 21-hydroxylase deficiency differ with age. In childhood, the overall goal is to replace cortisol. Obtaining hormonal balance is important and patients growth velocity and bone age is monitored. Routine analysis of blood, urine, and/or saliva may also be necessary. Corrective surgery is frequently required for females born with abnormal genitalia. In late childhood and adolescence, maintaining hormonal balance is equally important. Overtreatment may result in obesity and delayed menarche/puberty, whereas under-replacement will result in sexual precocity. Also, it is important that teens and young adults with 21-hydroxylase deficiency be successfully transitioned to adult care facilities. Follow-up of adult patients should involve multidisciplinary clinics. Problems in adult women include fertility concerns, excessive hair growth, and menstrual irregularity; obesity and impact of short stature; sexual dysfunction and psychological problems. Counseling may be helpful. Adult males may develop enlargement of the testes and if so, should work with an endocrinologist familiar with the management of patients with this deficiency.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Fanconi Anemia ?"}, {"role": "assistant", "content": "People who have Fanconi anemia (FA) are born with the disorder. They may or may not show signs or symptoms of it at birth. For this reason, FA isn't always diagnosed when a person is born. In fact, most people who have the disorder are diagnosed between the ages of 2 and 15 years.\n \nThe tests used to diagnose FA depend on a person's age and symptoms. In all cases, medical and family histories are an important part of diagnosing FA. However, because FA has many of the same signs and symptoms as other diseases, only genetic testing can confirm its diagnosis.\n \nSpecialists Involved\n \nA geneticist is a doctor or scientist who studies how genes work and how diseases and traits are passed from parents to children through genes.\n \nGeneticists do genetic testing for FA. They also can provide counseling about how FA is inherited and the types of prenatal (before birth) testing used to diagnose it.\n \nAn obstetrician may detect birth defects linked to FA before your child is born. An obstetrician is a doctor who specializes in providing care for pregnant women.\n \nAfter your child is born, a pediatrician also can help find out whether your child has FA. A pediatrician is a doctor who specializes in treating children and teens.\n \nA hematologist (blood disease specialist) also may help diagnose FA.\n \nFamily and Medical Histories\n \nFA is an inherited disease. Some parents are aware that their family has a medical history of FA, even if they don't have the disease.\n \nOther parents, especially if they're FA carriers, may not be aware of a family history of FA. Many parents may not know that FA can be passed from parents to children.\n \nKnowing your family medical history can help your doctor diagnose whether you or your child has FA or another condition with similar symptoms.\n \nIf your doctor thinks that you, your siblings, or your children have FA, he or she may ask you detailed questions about:\n \nAny personal or family history of anemia\n \nAny surgeries youve had related to the digestive system\n \nAny personal or family history of immune disorders\n \nYour appetite, eating habits, and any medicines you take\n \nIf you know your family has a history of FA, or if your answers to your doctor's questions suggest a possible diagnosis of FA, your doctor will recommend further testing.\n \nDiagnostic Tests and Procedures\n \nThe signs and symptoms of FA aren't unique to the disease. They're also linked to many other diseases and conditions, such as aplastic anemia. For this reason, genetic testing is needed to confirm a diagnosis of FA. Genetic tests for FA include the following.\n \nChromosome Breakage Test\n \nThis is the most common test for FA. It's available only in special laboratories (labs). It shows whether your chromosomes (long chains of genes) break more easily than normal.\n \nSkin cells sometimes are used for the test. Usually, though, a small amount of blood is taken from a vein in your arm using a needle. A technician combines some of the blood cells with certain chemicals.\n \nIf you have FA, the chromosomes in your blood sample break and rearrange when mixed with the test chemicals. This doesn't happen in the cells of people who don't have FA.\n \nCytometric Flow Analysis\n \nCytometric flow analysis, or CFA, is done in a lab. This test examines how chemicals affect your chromosomes as your cells grow and divide. Skin cells are used for this test.\n \nA technician mixes the skin cells with chemicals that can cause the chromosomes in the cells to act abnormally. If you have FA, your cells are much more sensitive to these chemicals.\n \nThe chromosomes in your skin cells will break at a high rate during the test. This doesn't happen in the cells of people who don't have FA.\n \nMutation Screening\n \nA mutation is an abnormal change in a gene or genes. Geneticists and other specialists can examine your genes, usually using a sample of your skin cells. With special equipment and lab processes, they can look for gene mutations that are linked to FA.\n \nDiagnosing Different Age Groups\n \nBefore Birth (Prenatal)\n \nIf your family has a history of FA and you get pregnant, your doctor may want to test you or your fetus for FA.\n \nTwo tests can be used to diagnose FA in a developing fetus: amniocentesis (AM-ne-o-sen-TE-sis) and chorionic villus (ko-re-ON-ik VIL-us) sampling (CVS). Both tests are done in a doctor's office or hospital.\n \nAmniocentesis is done 15 to 18 weeks after a pregnant woman's last period. A doctor uses a needle to remove a small amount of fluid from the sac around the fetus. A technician tests chromosomes (chains of genes) from the fluid sample to see whether they have faulty genes associated with FA.\n \nCVS is done 10 to 12 weeks after a pregnant woman's last period. A doctor inserts a thin tube through the vagina and cervix to the placenta (the temporary organ that connects the fetus to the mother).\n \nThe doctor removes a tissue sample from the placenta using gentle suction. The tissue sample is sent to a lab to be tested for genetic defects associated with FA.\n \nAt Birth\n \nThree out of four people who inherit FA are born with birth defects. If your baby is born with certain birth defects, your doctor may recommend genetic testing to confirm a diagnosis of FA.\n \nFor more information about these defects, go to What Are the Signs and Symptoms of Fanconi Anemia?\n \nChildhood and Later\n \nSome people who have FA are not born with birth defects. Doctors may not diagnose them with the disorder until signs of bone marrow failure or cancer occur. This usually happens within the first 10 years of life.\n \nSigns of bone marrow failure most often begin between the ages of 3 and 12 years, with 7 to 8 years as the most common ages. However, 10 percent of children who have FA aren't diagnosed until after 16 years of age.\n \nIf your bone marrow is failing, you may have signs of aplastic anemia. FA is one type of aplastic anemia.\n \nIn aplastic anemia, your bone marrow stops making or doesn't make enough of all three types of blood cells: red blood cells, white blood cells, and platelets.\n \nAplastic anemia can be inherited or acquired after birth through exposure to chemicals, radiation, or medicines.\n \nDoctors diagnose aplastic anemia using:\n \nFamily and medical histories and a physical exam.\n \nA complete blood count (CBC) to check the number, size, and condition of your red blood cells. The CBC also checks numbers of white blood cells and platelets.\n \nA reticulocyte (re-TIK-u-lo-site) count. This test counts the number of new red blood cells in your blood to see whether your bone marrow is making red blood cells at the proper rate.\n \nBone marrow tests. For a bone marrow aspiration, a small amount of liquid bone marrow is removed and tested to see whether it's making enough blood cells. For a bone marrow biopsy, a small amount of bone marrow tissue is removed and tested to see whether it's making enough blood cells.\n \nIf you or your child is diagnosed with aplastic anemia, your doctor will want to find the cause. If your doctor suspects you have FA, he or she may recommend genetic testing.\n \nFor more information, go to the Health Topics Aplastic Anemia article.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by glutaric acidemia type I ?"}, {"role": "assistant", "content": "Glutaric acidemia type I occurs in approximately 1 of every 30,000 to 40,000 individuals. It is much more common in the Amish community and in the Ojibwa population of Canada, where up to 1 in 300 newborns may be affected.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "how is hps diagnosed and treated for Hantavirus ?"}, {"role": "assistant", "content": "Diagnosing HPS\n \nDiagnosing HPS in an individual who has only been infected a few days is difficult, because early symptoms such as fever, muscle aches, and fatigue are easily confused with influenza. However, if the individual is experiencing fever and fatigue and has a history of potential rural rodent exposure, together with shortness of breath, would be strongly suggestive of HPS. If the individual is experiencing these symptoms they should see their physician immediately and mention their potential rodent exposure.\n Treating HPS\n \n \n \n \n \n \n \nThere is no specific treatment, cure, or vaccine for hantavirus infection. However, we do know that if infected individuals are recognized early and receive medical care in an intensive care unit, they may do better. In intensive care, patients are intubated and given oxygen therapy to help them through the period of severe respiratory distress.\n \nThe earlier the patient is brought in to intensive care, the better. If a patient is experiencing full distress, it is less likely the treatment will be effective.\n \nTherefore, if you have been around rodents and have symptoms of fever, deep muscle aches, and severe shortness of breath, see your doctor immediately. Be sure to tell your doctor that you have been around rodents\u2014this will alert your physician to look closely for any rodent-carried disease, such as HPS.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Microscopic Colitis: Collagenous Colitis and Lymphocytic Colitis ?"}, {"role": "assistant", "content": "The most common symptom of microscopic colitis is chronic, watery, nonbloody diarrhea. Episodes of diarrhea can last for weeks, months, or even years. However, many people with microscopic colitis may have long periods without diarrhea. Other signs and symptoms of microscopic colitis can include\n \n- a strong urgency to have a bowel movement or a need to go to the bathroom quickly - pain, cramping, or bloating in the abdomenthe area between the chest and the hipsthat is usually mild - weight loss - fecal incontinenceaccidental passing of stool or fluid from the rectumespecially at night - nausea - dehydrationa condition that results from not taking in enough liquids to replace fluids lost through diarrhea\n \nThe symptoms of microscopic colitis can come and go frequently. Sometimes, the symptoms go away without treatment.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is surfactant dysfunction inherited ?"}, {"role": "assistant", "content": "Surfactant dysfunction can have different inheritance patterns depending on its genetic cause. When caused by mutations in the SFTPB or ABCA3 gene, this condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. When caused by mutations in the SFTPC gene, this condition has an autosomal dominant inheritance pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In about half of cases caused by changes in the SFTPC gene, an affected person inherits the mutation from one affected parent. The remainder result from new mutations in the gene and occur in people with no history of the disorder in their family.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is complement component 2 deficiency inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Charcot-Marie-Tooth disease type 2O ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Charcot-Marie-Tooth disease type 2O? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 2O. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Decreased motor nerve conduction velocity - Difficulty running - Distal muscle weakness - Distal sensory impairment - Frequent falls - Hyporeflexia - Limb muscle weakness - Motor delay - Pes cavus - Phenotypic variability - Slow progression - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) 3MC syndrome ?"}, {"role": "assistant", "content": "3MC syndrome is a disorder characterized by unusual facial features and problems affecting other tissues and organs of the body. The distinctive facial features of people with 3MC syndrome include widely spaced eyes (hypertelorism), a narrowing of the eye opening (blepharophimosis), droopy eyelids (ptosis), highly arched eyebrows, and an opening in the upper lip (cleft lip) with an opening in the roof of the mouth (cleft palate). Common features affecting other body systems include developmental delay, intellectual disability, hearing loss, and slow growth after birth resulting in short stature. Other features of 3MC syndrome can include abnormal fusion of certain bones in the skull (craniosynostosis) or forearm (radioulnar synostosis); an outgrowth of the tailbone (caudal appendage); a soft out-pouching around the belly-button (an umbilical hernia); and abnormalities of the kidneys, bladder, or genitals. 3MC syndrome encompasses four disorders that were formerly considered to be separate: Mingarelli, Malpeuch, Michels, and Carnevale syndromes. Researchers now generally consider these disorders to be part of the same condition, which is called 3MC based on the initials of the older condition names.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "what is yersiniosis for Yersinia ?"}, {"role": "assistant", "content": "Yersiniosis is an infectious disease caused by a bacterium of the genus Yersinia. In the United States, most human illness is caused by one species, Y. enterocolitica. Infection with Y. enterocolitica can cause a variety of symptoms depending on the age of the person infected. Infection with Y. enterocolitica occurs most often in young children. Common symptoms in children are fever, abdominal pain, and diarrhea, which is often bloody. Symptoms typically develop 4 to 7 days after exposure and may last 1 to 3 weeks or longer. In older children and adults, right-sided abdominal pain and fever may be the predominant symptoms, and may be confused with appendicitis. In a small proportion of cases, complications such as skin rash, joint pains, or spread of bacteria to the bloodstream can occur.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Mainzer-Saldino syndrome ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of Mainzer-Saldino syndrome: - MedlinePlus Encyclopedia: Electroretinography - National Institutes of Diabetes and Digestive and Kidney Diseases: Treatment Methods for Kidney Failure in Children These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is diastrophic dysplasia inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Cryptogenic organizing pneumonia ?"}, {"role": "assistant", "content": "How might cryptogenic organizing pneumonia be treated? The treatment of cryptogenic organizing pneumonia (COP) generally depends on the severity of the condition. For example, people who are mildly affected may simply be monitored as some cases can improve on their own. Unfortunately, the majority of people with COP have persistent and/or progressive symptoms that will require therapy. In these cases, oral or intravenous glucocorticoids can be given which often result in rapid improvement of symptoms.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) tuberous sclerosis complex ?"}, {"role": "assistant", "content": "Tuberous sclerosis complex is a genetic disorder characterized by the growth of numerous noncancerous (benign) tumors in many parts of the body. These tumors can occur in the skin, brain, kidneys, and other organs, in some cases leading to significant health problems. Tuberous sclerosis complex also causes developmental problems, and the signs and symptoms of the condition vary from person to person. Virtually all affected people have skin abnormalities, including patches of unusually light-colored skin, areas of raised and thickened skin, and growths under the nails. Tumors on the face called facial angiofibromas are also common beginning in childhood. Tuberous sclerosis complex often affects the brain, causing seizures, behavioral problems such as hyperactivity and aggression, and intellectual disability or learning problems. Some affected children have the characteristic features of autism, a developmental disorder that affects communication and social interaction. Benign brain tumors can also develop in people with tuberous sclerosis complex; these tumors can cause serious or life-threatening complications. Kidney tumors are common in people with tuberous sclerosis complex; these growths can cause severe problems with kidney function and may be life-threatening in some cases. Additionally, tumors can develop in the heart, lungs, and the light-sensitive tissue at the back of the eye (the retina).", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) medium-chain acyl-CoA dehydrogenase deficiency ?"}, {"role": "assistant", "content": "Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). Signs and symptoms of MCAD deficiency typically appear during infancy or early childhood and can include vomiting, lack of energy (lethargy), and low blood sugar (hypoglycemia). In rare cases, symptoms of this disorder are not recognized early in life, and the condition is not diagnosed until adulthood. People with MCAD deficiency are at risk of serious complications such as seizures, breathing difficulties, liver problems, brain damage, coma, and sudden death. Problems related to MCAD deficiency can be triggered by periods of fasting or by illnesses such as viral infections. This disorder is sometimes mistaken for Reye syndrome, a severe disorder that may develop in children while they appear to be recovering from viral infections such as chicken pox or flu. Most cases of Reye syndrome are associated with the use of aspirin during these viral infections.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Who is at risk for Childhood Acute Myeloid Leukemia and Other Myeloid Malignancies? ?"}, {"role": "assistant", "content": "The risk factors for childhood AML, childhood CML, JMML, and MDS are similar. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. Talk with your childs doctor if you think your child may be at risk. These and other factors may increase the risk of childhood AML, childhood CML, JMML, and MDS: - Having a brother or sister, especially a twin, with leukemia. - Being Hispanic. - Being exposed to cigarette smoke or alcohol before birth. - Having a personal history of aplastic anemia. - Having a personal or family history of MDS. - Having a family history of AML. - Past treatment with chemotherapy or radiation therapy. - Being exposed to ionizing radiation or chemicals such as benzene. - Having certain genetic disorders, such as: - Down syndrome. - Fanconi anemia. - Neurofibromatosis type 1. - Noonan syndrome. - Shwachman-Diamond syndrome.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Floods ?"}, {"role": "assistant", "content": "Floods are common in the United States. Weather such as heavy rain, thunderstorms, hurricanes, or tsunamis can cause flooding. Flooding can also happen when a river or stream overflows its bank, when a levee is breached, or when a dam breaks. Flash floods, which can develop quickly, often have a dangerous wall of roaring water. The wall carries rocks, mud, and rubble and can sweep away most things in its path. Be aware of flood hazards no matter where you live, but especially if you live in a low-lying area, near water or downstream from a dam. Although there are no guarantees of safety during a flood, you can take actions to protect yourself. You should have a disaster plan. Being prepared can help reduce fear, anxiety, and losses. If you do experience a disaster, it is normal to feel stressed. You may need help in finding ways to cope. Federal Emergency Management Agency", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to prevent Balance Problems ?"}, {"role": "assistant", "content": "Scientists are working to understand the complex interactions between the brain and the part of the inner ear responsible for balance. They are also studying the effectiveness of certain exercises as a treatment option for balance disorders. An NIDCD-supported clinical trial in benign paroxysmal positioning vertigo (BPPV) showed that repositioning maneuvers work well, and offered clinicians a range of choices in selecting the treatment best suited to each individuals unique needs. NIDCD-funded researchers have created a virtual reality grocery store. This virtual store is a computer-simulated environment that seems to be a physical place in the real world. It is designed so people with balance disorders can safely walk on a treadmill as they practice looking for items on store shelves. The goal is to help reduce a person's dizziness in confusing environments. NIDCD-supported scientists are also studying the use of a vestibular implant to stop a Mnires attack by restoring normal electrical activity in the vestibular nerve. This nerve conveys balance information to the brain. The device uses the same technology found in a cochlear implant, a medical device that currently provides a sense of sound to people who are deaf or hard-of-hearing.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Retinitis pigmentosa, deafness, mental retardation, and hypogonadism ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Retinitis pigmentosa, deafness, mental retardation, and hypogonadism? The Human Phenotype Ontology provides the following list of signs and symptoms for Retinitis pigmentosa, deafness, mental retardation, and hypogonadism. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Acanthosis nigricans 90% Cognitive impairment 90% Gynecomastia 90% Hyperinsulinemia 90% Nystagmus 90% Sensorineural hearing impairment 90% Short stature 90% Type II diabetes mellitus 90% Atypical scarring of skin 50% Brachydactyly syndrome 50% Broad foot 50% Cataract 50% Coarse facial features 50% Cryptorchidism 50% Delayed skeletal maturation 50% Dry skin 50% Obesity 50% Secondary amenorrhea 50% Short toe 50% Visual impairment 50% Cerebral cortical atrophy 7.5% Hyperlordosis 7.5% Kyphosis 7.5% Polycystic ovaries 7.5% Abnormality of the ear - Autosomal recessive inheritance - Broad palm - Cerebellar atrophy - Cerebral atrophy - Elevated hepatic transaminases - Hypergonadotropic hypogonadism - Insulin-resistant diabetes mellitus - Intellectual disability - Pigmentary retinopathy - Rod-cone dystrophy - Sparse hair - Subcapsular cataract - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "what research (or clinical trials) is being done for Neuromyelitis Optica ?"}, {"role": "assistant", "content": "The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge of the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. The NINDS is a component of the National Institutes of Health, the leading supporter of biomedical research in the world. NINDS researchers are working to better understand the process by which the immune system destroys or attacks the nerve insulating substance called myelin in autoijmune diseases or disorders. Other work focuses on strategies to repair demyelinated spinal cords, including approaches using cell transplantation. this research may lead to a grater understanding of the mechanisms responsible for damaging myelin and may ultimately provide a means to prevent and treat transverse myelitis An NINDS-funded study comparing clinical MRI and lumbar puncture of healthy individuals to those with symptoms of immune-related central nervous system damage hopes to identify processes or mechanisms to inhibit or minimize spinal tissue damage and enhance recovery mechanisms. Multiple studies are looking at ways to target different components of the immune system known to be involved in NMO spectrum disorders to allow more directly targeted treatment of this disease.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Citrullinemia type I ?"}, {"role": "assistant", "content": "What causes citrullinemia type I? Citrullinemia type I is caused by mutations in the ASS1 gene. This gene provides instructions for making an enzyme, argininosuccinate synthetase 1, that is responsible for the third step in the urea cycle. Mutations in the ASS1 gene reduce the activity of the enzyme, which disrupts the urea cycle and prevents the body from processing nitrogen effectively. Excess nitrogen (in the form of ammonia) and other byproducts of the urea cycle accumulate in the bloodstream. Ammonia is particularly toxic to the nervous system, which helps explain the neurologic symptoms (such as lethargy, seizures, and ataxia) that are often seen in this condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to prevent Parasites - Toxoplasmosis (Toxoplasma infection) ?"}, {"role": "assistant", "content": "People who are healthy should follow the guidelines below to reduce risk of toxoplasmosis. If you have a weakened immune system, please see guidelines for Immunocompromised Persons.\n Reduce Risk from Food\n \nTo prevent risk of toxoplasmosis and other infections from food:\n \n - Freeze meat for several days at sub-zero (0\u00b0 F) temperatures before cooking to greatly reduce chance of infection.\n - Peel or wash fruits and vegetables thoroughly before eating. \n \n \n \n - Wash cutting boards, dishes, counters, utensils, and hands with hot soapy water after contact with raw meat, poultry, seafood, or unwashed fruits or vegetables.\n \n \nMore on: Handwashing\n \nThe U.S. Government and the meat industry continue their efforts to reduce T. gondii in meat.\n Reduce Risk from the Environment\n \nTo prevent risk of toxoplasmosis from the environment:\n \n - Avoid drinking untreated drinking water.\n - Wear gloves when gardening and during any contact with soil or sand because it might be contaminated with cat feces that contain Toxoplasma. Wash hands with soap and warm water after gardening or contact with soil or sand.\n - Teach children the importance of washing hands to prevent infection.\n - Keep outdoor sandboxes covered. \n \n \n \n - Feed cats only canned or dried commercial food or well-cooked table food, not raw or undercooked meats.\n - Change the litter box daily if you own a cat. The Toxoplasma parasite does not become infectious until 1 to 5 days after it is shed in a cat's feces. If you are pregnant or immunocompromised: \n \n - Avoid changing cat litter if possible. If no one else can perform the task, wear disposable gloves and wash your hands with soap and warm water afterwards.\n - Keep cats indoors.\n - Do not adopt or handle stray cats, especially kittens. Do not get a new cat while you are pregnant.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to congenital neuronal ceroid lipofuscinosis ?"}, {"role": "assistant", "content": "Mutations in the CTSD gene cause congenital NCL. The CTSD gene provides instructions for making an enzyme called cathepsin D. Cathepsin D is one of a family of cathepsin proteins that act as proteases, which modify proteins by cutting them apart. Cathepsin D is found in many types of cells and is active in lysosomes, which are compartments within cells that digest and recycle different types of molecules. By cutting proteins apart, cathepsin D can break proteins down, turn on (activate) proteins, and regulate self-destruction of the cell (apoptosis). CTSD gene mutations that cause congenital NCL lead to a complete lack of cathepsin D enzyme activity. As a result, proteins and other materials are not broken down properly. In the lysosomes, these materials accumulate into fatty substances called lipopigments. These accumulations occur in cells throughout the body, but neurons are likely particularly vulnerable to damage caused by the abnormal cell materials and the loss of cathepsin D function. Early and widespread cell death in congenital NCL leads to severe signs and symptoms and death in infancy.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Prevent diabetes problems: Keep your nervous system healthy ?"}, {"role": "assistant", "content": "The treatment for nerve damage from diabetes is based on your symptoms. No treatment can reverse nerve damage; however, it can help you feel better. Your doctor might suggest taking low doses of medicines that both treat other health problems and help the pain of neuropathy. Some of these medicines include\n \n- antidepressants - anticonvulsants, or anti-seizure medicines\n \nOther treatment options include\n \n- creams or patches on your skin for burning pain - over-the-counter pain medicines - acupuncture, a form of pain treatment that uses needles inserted into your body at certain pressure points - physical therapy, which helps with muscle weakness and loss of balance - relaxation exercises, such as yoga - special shoes to fit softly around sore feet or feet that have changed shape\n \nYour doctor also can prescribe medicines to help with problems caused by nerve damage in other areas of your body, such as poor digestion, dizziness, sexual problems, and lack of bladder control.\n \nStopping smoking and drinking alcoholic beverages also may help with symptoms.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) SAPHO syndrome ?"}, {"role": "assistant", "content": "SAPHO syndrome involves any combination of: Synovitis (inflammation of the joints), Acne, Pustulosis (thick yellow blisters containing pus) often on the palms and soles, Hyperostosis (increase in bone substance) and Osteitis (inflammation of the bones). The cause of SAPHO syndrome is unknown and treatment is focused on managing symptoms.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Fumarase deficiency ?"}, {"role": "assistant", "content": "What causes fumarase deficiency? Mutations in the FH gene cause fumarase deficiency. The FH gene provides instructions for making an enzyme called fumarase, which participates in a series of reactions allowing cells to use oxygen and generate energy. Mutations in the FH gene disrupt the enzyme's ability to do its job. Disruption of the process that generates energy for cells is particularly harmful to cells in the developing brain, thus resulting in the signs and symptoms of fumarase deficiency.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What to do for What I need to know about Hepatitis A ?"}, {"role": "assistant", "content": "- Hepatitis A is a virus, or infection, that causes inflammation of the liver. - Anyone can get hepatitis A, but some people are more likely to than others. - You could get hepatitis A through contact with an infected persons stool. - Most people do not have any symptoms of hepatitis A. - Children younger than age 6 may have no symptoms of hepatitis A. - Hepatitis A may cause mild, flulike symptoms in older children and adults. - See a doctor right away if you or a child in your care has symptoms of hepatitis A. - A blood test will show if you have hepatitis A. - Hepatitis A usually gets better in a few weeks without treatment. - You can avoid getting hepatitis A by receiving the hepatitis A vaccine. - Tell your doctor and your dentist if you have hepatitis A. - See your doctor right away if you think you have been in contact with the hepatitis A virus.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is the outlook for Gaucher Disease ?"}, {"role": "assistant", "content": "Enzyme replacement therapy is very beneficial for type 1 and most type 3 individuals with this condition. Successful bone marrow transplantation can reverse the non-neurological effects of the disease, but the procedure carries a high risk and is rarely performed in individuals with Gaucher disease.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Extragonadal Germ Cell Tumors ?"}, {"role": "assistant", "content": "Key Points\n - There are different types of treatment for patients with extragonadal germ cell tumors. - Three types of standard treatment are used: - Radiation therapy - Chemotherapy - Surgery - New types of treatment are being tested in clinical trials. - High-dose chemotherapy with stem cell transplant - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed.\n \n \n There are different types of treatment for patients with extragonadal germ cell tumors.\n Different types of treatments are available for patients with extragonadal germ cell tumors. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Patients may want to think about taking part in a clinical trial. Some clinical trials are open only to patients who have not started treatment.\n \n \n Three types of standard treatment are used:\n Radiation therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy: - External radiation therapy uses a machine outside the body to send radiation toward the cancer. - Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. The way the radiation therapy is given depends on the type and stage of the cancer being treated. External radiation therapy is used to treat seminoma. Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly in the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). The way the chemotherapy is given depends on the type and stage of the cancer being treated. Surgery Patients who have benign tumors or tumor remaining after chemotherapy or radiation therapy may need to have surgery.\n \n \n New types of treatment are being tested in clinical trials.\n This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. High-dose chemotherapy with stem cell transplant High-dose chemotherapy with stem cell transplant is a method of giving high doses of chemotherapy and replacing blood -forming cells destroyed by the cancer treatment. Stem cells (immature blood cells) are removed from the blood or bone marrow of the patient or a donor and are frozen and stored. After the chemotherapy is completed, the stored stem cells are thawed and given back to the patient through an infusion. These reinfused stem cells grow into (and restore) the body's blood cells.\n \n \n Patients may want to think about taking part in a clinical trial.\n For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward.\n \n \n Patients can enter clinical trials before, during, or after starting their cancer treatment.\n Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.\n \n \n Follow-up tests may be needed.\n Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups. After initial treatment for extragonadal germ cell tumors, blood levels of AFP and other tumor markers continue to be checked to find out how well the treatment is working.\n \n\t\t \n\t\t Treatment Options for Extragonadal Germ Cell Tumors\n\t\t \n\t\t \n\t\t Benign Teratoma\n\t\t Treatment of benign teratomas is surgery. Check the list of NCI-supported cancer clinical trials that are now accepting patients with benign teratoma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.\n\t\t \n\t\t \n\t\t Seminoma\n\t\t Treatment of seminoma extragonadal germ cell tumors may include the following: - Radiation therapy for small tumors in one area, followed by watchful waiting if there is tumor remaining after treatment. - Chemotherapy for larger tumors or tumors that have spread. If a tumor smaller than 3 centimeters remains after chemotherapy, watchful waiting follows. If a larger tumor remains after treatment, surgery or watchful waiting follow. Check the list of NCI-supported cancer clinical trials that are now accepting patients with extragonadal seminoma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.\n\t\t \n\t\t \n\t\t Nonseminoma\n\t\t Treatment of nonseminoma extragonadal germ cell tumors may include the following: - Combination chemotherapy followed by surgery to remove any remaining tumor. - A clinical trial of a new treatment. Check the list of NCI-supported cancer clinical trials that are now accepting patients with malignant extragonadal non-seminomatous germ cell tumor. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.\n\t\t \n\t\t \n\t\t Recurrent or Refractory Extragonadal Germ Cell Tumors\n\t\t Treatment of extragonadal germ cell tumors that are recurrent (come back after being treated) or refractory (do not get better during treatment) may include the following: - Chemotherapy. - A clinical trial of high-dose chemotherapy with stem cell transplant. - A clinical trial of a new treatment. Check the list of NCI-supported cancer clinical trials that are now accepting patients with recurrent extragonadal germ cell tumor. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is the outlook for Lesch-Nyhan Syndrome ?"}, {"role": "assistant", "content": "The prognosis for individuals with LNS is poor. Death is usually due to renal failure in the first or second decade of life.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Schinzel-Giedion syndrome ?"}, {"role": "assistant", "content": "Schinzel-Giedion syndrome is a severe condition that is apparent at birth and affects many body systems. Signs and symptoms of this condition include distinctive facial features, neurological problems, and organ and bone abnormalities. Because of their serious health problems, most affected individuals do not survive past childhood. Children with Schinzel-Giedion syndrome can have a variety of distinctive features. In most affected individuals, the middle of the face looks as though it has been drawn inward (midface retraction). Other facial features include a large or bulging forehead; wide-set eyes (ocular hypertelorism); a short, upturned nose; and a wide mouth with a large tongue (macroglossia). Affected individuals can have other distinctive features, including larger than normal gaps between the bones of the skull in infants (fontanelles), a short neck, ear malformations, an inability to secrete tears (alacrima), and excessive hairiness (hypertrichosis). Hypertrichosis often disappears in infancy. Children with Schinzel-Giedion syndrome have severe developmental delay. Other neurological problems can include severe feeding problems, seizures, or visual or hearing impairment. Affected individuals can also have abnormalities of organs such as the heart, kidneys, or genitals. Heart defects include problems with the heart valves, which control blood flow in the heart; the chambers of the heart that pump blood to the body (ventricles); or the dividing wall between the sides of the heart (the septum). Most children with Schinzel-Giedion syndrome have accumulation of urine in the kidneys (hydronephrosis), which can occur in one or both kidneys. Affected individuals can have genital abnormalities such as underdevelopment (hypoplasia) of the genitals. Affected boys may have the opening of the urethra on the underside of the penis (hypospadias). Bone abnormalities are common in people with Schinzel-Giedion syndrome. The bones at the base of the skull are often abnormally hard or thick (sclerotic), or the joint between the bones at the base of the skull (occipital synchondrosis) can be abnormally wide. In addition, affected individuals may have broad ribs, abnormal collarbones (clavicles), or shortened bones at the ends of the fingers (hypoplastic distal phalanges). Children with this condition who survive past infancy have a higher than normal risk of developing certain types of tumors called neuroepithelial tumors.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Krabbe disease atypical due to Saposin A deficiency ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Krabbe disease atypical due to Saposin A deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Krabbe disease atypical due to Saposin A deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Central apnea - Cerebral dysmyelination - Death in childhood - Global brain atrophy - Hypertonia - Hyporeflexia - Increased CSF protein - Infantile onset - Respiratory failure - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Causes of Diabetes ?"}, {"role": "assistant", "content": "Insulin Resistance and Beta Cell Dysfunction\n \nHormones produced by the placenta and other pregnancy-related factors contribute to insulin resistance, which occurs in all women during late pregnancy. Insulin resistance increases the amount of insulin needed to control blood glucose levels. If the pancreas cant produce enough insulin due to beta cell dysfunction, gestational diabetes occurs.\n \nAs with type 2 diabetes, excess weight is linked to gestational diabetes. Overweight or obese women are at particularly high risk for gestational diabetes because they start pregnancy with a higher need for insulin due to insulin resistance. Excessive weight gain during pregnancy may also increase risk.\n \nFamily History\n \nHaving a family history of diabetes is also a risk factor for gestational diabetes, suggesting that genes play a role in its development. Genetics may also explain why the disorder occurs more frequently in African Americans, American Indians, and Hispanics/Latinos. Many gene variants or combinations of variants may increase a womans risk for developing gestational diabetes. Studies have found several gene variants associated with gestational diabetes, but these variants account for only a small fraction of women with gestational diabetes.\n \nFuture Risk of Type 2 Diabetes\n \nBecause a womans hormones usually return to normal levels soon after giving birth, gestational diabetes disappears in most women after delivery. However, women who have gestational diabetes are more likely to develop gestational diabetes with future pregnancies and develop type 2 diabetes.3 Women with gestational diabetes should be tested for persistent diabetes 6 to 12 weeks after delivery and at least every 3 years thereafter.\n \nAlso, exposure to high glucose levels during gestation increases a childs risk for becoming overweight or obese and for developing type 2 diabetes later on. The result may be a cycle of diabetes affecting multiple generations in a family. For both mother and child, maintaining a healthy body weight and being physically active may help prevent type 2 diabetes.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Essential tremor ?"}, {"role": "assistant", "content": "What causes essential tremor? The causes of essential tremor are unknown. Researchers are studying several areas (loci) on particular chromosomes that may be linked to essential tremor, but no specific genetic associations have been confirmed. Several genes, as well as environmental factors, are likely involved in an individual's risk of developing this complex condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Russell-Silver syndrome inherited ?"}, {"role": "assistant", "content": "Most cases of Russell-Silver syndrome are sporadic, which means they occur in people with no history of the disorder in their family. Less commonly, Russell-Silver syndrome can run in families. In some affected families, the condition appears to have an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means one copy of a genetic change in each cell is sufficient to cause the disorder. In other families, the condition has an autosomal recessive pattern of inheritance. Autosomal recessive inheritance means both copies of a gene are altered in each cell. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for glucose phosphate isomerase deficiency ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of GPI deficiency: - Genetic Testing Registry: Glucosephosphate isomerase deficiency - Genetic Testing Registry: Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency - National Heart, Lung, and Blood Institute: How is Hemolytic Anemia Diagnosed? - National Heart, Lung, and Blood Institute: How is Hemolytic Anemia Treated? These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Juvenile Huntington disease ?"}, {"role": "assistant", "content": "How might Juvenile Huntington disease (HD) be treated? Physicians may prescribe a number of medications to help control emotional and movement problems associated with HD. It is important to remember however, that while medicines may help keep these clinical symptoms under control, there is no treatment to stop or reverse the course of the disease. Anticonvulsant drugs are usually prescribed to help prevent and control the seizures that occur in children with Juvenile HD. Tetrabenazine is often used to treat chorea. Antipsychotic drugs, such as haloperidol, or other drugs, such as clonazepam, may also help to alleviate chorea and may also be used to help control hallucinations, delusions, and violent outbursts. For depression, physicians may prescribe fluoxetine, sertraline, nortriptyline, or other drugs. Tranquilizers can help control anxiety and lithium may be prescribed to combat severe mood swings.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by Lujan syndrome ?"}, {"role": "assistant", "content": "Lujan syndrome appears to be an uncommon condition, but its prevalence is unknown.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Phaeohyphomycosis ?"}, {"role": "assistant", "content": "Phaeohyphomycosis refers to fungal infections caused by dematiaceous (darkly, pigmented fungi). It can be associated with a variety of clinical syndromes including invasive sinusitis; nodules or abscesses beneath the skin; keratitis; lung masses; osteomyelitis; mycotic arthritis; endocarditis; brain abscess; and wide-spread infection. Although the condition can affect all people, it is most commonly diagnosed in immunocompetent and immunosuppressed people and can even be life-threatening in these populations. Treatment depends on the signs and symptoms present in each person but may include surgery and/or various medications.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) desmoid tumor ?"}, {"role": "assistant", "content": "A desmoid tumor is an abnormal growth that arises from connective tissue, which is the tissue that provides strength and flexibility to structures such as bones, ligaments, and muscles. Typically, a single tumor develops, although some people have multiple tumors. The tumors can occur anywhere in the body. Tumors that form in the abdominal wall are called abdominal desmoid tumors; those that arise from the tissue that connects the abdominal organs are called intra-abdominal desmoid tumors; and tumors found in other regions of the body are called extra-abdominal desmoid tumors. Extra-abdominal tumors occur most often in the shoulders, upper arms, and upper legs. Desmoid tumors are fibrous, much like scar tissue. They are generally not considered cancerous (malignant) because they do not spread to other parts of the body (metastasize); however, they can aggressively invade the surrounding tissue and can be very difficult to remove surgically. These tumors often recur, even after apparently complete removal. The most common symptom of desmoid tumors is pain. Other signs and symptoms, which are often caused by growth of the tumor into surrounding tissue, vary based on the size and location of the tumor. Intra-abdominal desmoid tumors can block the bowel, causing constipation. Extra-abdominal desmoid tumors can restrict the movement of affected joints and cause limping or difficulty moving the arms or legs. Desmoid tumors occur frequently in people with an inherited form of colon cancer called familial adenomatous polyposis (FAP). These individuals typically develop intra-abdominal desmoid tumors in addition to abnormal growths (called polyps) and cancerous tumors in the colon. Desmoid tumors that are not part of an inherited condition are described as sporadic.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by autosomal recessive hypotrichosis ?"}, {"role": "assistant", "content": "The worldwide prevalence of autosomal recessive hypotrichosis is unknown. In Japan, the condition is estimated to affect 1 in 10,000 individuals.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is beta-ureidopropionase deficiency inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Primary Biliary Cirrhosis ?"}, {"role": "assistant", "content": "The causes of primary biliary cirrhosis are unknown. Most research suggests it is an autoimmune disease. The immune system protects people from infection by identifying and destroying bacteria, viruses, and other potentially harmful foreign substances. An autoimmune disease is a disorder in which the bodys immune system attacks the bodys own cells and organs. In primary biliary cirrhosis, the immune system attacks the small bile ducts in the liver.\n \nGenetics, or inherited genes, can make a person more likely to develop primary biliary cirrhosis. Primary biliary cirrhosis is more common in people who have a parent or siblingparticularly an identical twinwith the disease. In people who are genetically more likely to develop primary biliary cirrhosis, environmental factors may trigger or worsen the disease, including\n \n- exposure to toxic chemicals - smoking - infections\n \nGenetics can also make some people more likely to develop other autoimmune diseases, such as\n \n- autoimmune hepatitis, a disease in which the bodys immune system attacks liver cells - Sjgrens syndrome, a condition in which the immune system attacks the glands that produce tears and saliva - autoimmune thyroid dysfunctions, conditions in which the immune system attacks the thyroid gland", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Parathyroid Disorders ?"}, {"role": "assistant", "content": "Most people have four pea-sized glands, called parathyroid glands, on the thyroid gland in the neck. Though their names are similar, the thyroid and parathyroid glands are completely different. The parathyroid glands make parathyroid hormone (PTH), which helps your body keep the right balance of calcium and phosphorous. If your parathyroid glands make too much or too little hormone, it disrupts this balance. If they secrete extra PTH, you have hyperparathyroidism, and your blood calcium rises. In many cases, a benign tumor on a parathyroid gland makes it overactive. Or, the extra hormones can come from enlarged parathyroid glands. Very rarely, the cause is cancer. If you do not have enough PTH, you have hypoparathyroidism. Your blood will have too little calcium and too much phosphorous. Causes include injury to the glands, endocrine disorders, or genetic conditions. Treatment is aimed at restoring the balance of calcium and phosphorous. NIH: National Institute of Diabetes and Digestive and Kidney Diseases", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Congenital contractural arachnodactyly ?"}, {"role": "assistant", "content": "Congenital contractural arachnodactyly (CCA) is a genetic disorder that is typically characterized by tall height; skinny, long limbs; long, skinny fingers and toes (arachnodactyly); multiple joint deformities present at birth (congenital contractures), usually of the elbows, knees, hips, fingers and ankles; \"crumpled\"-looking ears, and curvature of the spine (kyphoscoliosis). Other features might also be present and vary from person to person. CCA is caused by mutations in a gene called FBN2 gene and is inherited in an autosomal dominant pattern. CCA shares similiar signs and symptoms to Marfan syndrome; however, Marfan syndrome is not caused by mutations in the FBN2 gene.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) High Blood Cholesterol ?"}, {"role": "assistant", "content": "To understand high blood cholesterol (ko-LES-ter-ol), it helps to learn about cholesterol. Cholesterol is a waxy, fat-like substance thats found in all cells of the body.\n \nYour body needs some cholesterol to make hormones, vitamin D, and substances that help you digest foods. Your body makes all the cholesterol it needs. However, cholesterol also is found in some of the foods you eat.\n \nCholesterol travels through your bloodstream in small packages called lipoproteins (lip-o-PRO-teens). These packages are made of fat (lipid) on the inside and proteins on the outside.\n \nTwo kinds of lipoproteins carry cholesterol throughout your body: low-density lipoproteins (LDL) and high-density lipoproteins (HDL). Having healthy levels of both types of lipoproteins is important.\n \nLDL cholesterol sometimes is called bad cholesterol. A high LDL level leads to a buildup of cholesterol in your arteries. (Arteries are blood vessels that carry blood from your heart to your body.)\n \nHDL cholesterol sometimes is called good cholesterol. This is because it carries cholesterol from other parts of your body back to your liver. Your liver removes the cholesterol from your body.\n \nWhat Is High Blood Cholesterol?\n \nHigh blood cholesterol is a condition in which you have too much cholesterol in your blood. By itself, the condition usually has no signs or symptoms. Thus, many people dont know that their cholesterol levels are too high.\n \nPeople who have high blood cholesterol have a greater chance of getting coronary heart disease, also called coronary artery disease. (In this article, the term heart disease refers to coronary heart disease.)\n \nThe higher the level of LDL cholesterol in your blood, the GREATER your chance is of getting heart disease. The higher the level of HDL cholesterol in your blood, the LOWER your chance is of getting heart disease.\n \nCoronary heart disease is a condition in which plaque (plak) builds up inside the coronary (heart) arteries. Plaque is made up of cholesterol, fat, calcium, and other substances found in the blood. When plaque builds up in the arteries, the condition is called atherosclerosis (ATH-er-o-skler-O-sis).\n \nAtherosclerosis\n \n\n \nOver time, plaque hardens and narrows your coronary arteries. This limits the flow of oxygen-rich blood to the heart.\n \nEventually, an area of plaque can rupture (break open). This causes a blood clot to form on the surface of the plaque. If the clot becomes large enough, it can mostly or completely block blood flow through a coronary artery.\n \nIf the flow of oxygen-rich blood to your heart muscle is reduced or blocked, angina (an-JI-nuh or AN-juh-nuh) or a heart attack may occur.\n \nAngina is chest pain or discomfort. It may feel like pressure or squeezing in your chest. The pain also may occur in your shoulders, arms, neck, jaw, or back. Angina pain may even feel like indigestion.\n \nA heart attack occurs if the flow of oxygen-rich blood to a section of heart muscle is cut off. If blood flow isnt restored quickly, the section of heart muscle begins to die. Without quick treatment, a heart attack can lead to serious problems or death.\n \nPlaque also can build up in other arteries in your body, such as the arteries that bring oxygen-rich blood to your brain and limbs. This can lead to problems such as carotid artery disease, stroke, and peripheral artery disease.\n \nOutlook\n \nLowering your cholesterol may slow, reduce, or even stop the buildup of plaque in your arteries. It also may reduce the risk of plaque rupturing and causing dangerous blood clots.\n \n\n \nSources: National Center for Health Statistics (20072010). National Health and Nutrition Examination Survey; National Center for Health Statistics (20052008). National Health and Nutrition Examination Survey; National Heart, Lung, and Blood Institute, National Cholesterol Education Program (2002). Third report of the National Cholesterol Education Program (NCEP) exert panel on detection, evaluation, and treatment of high blood cholesterol in adults (Adult Treatment Panel III) final report.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is dilated cardiomyopathy with ataxia syndrome inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is the outlook for Metachromatic Leukodystrophy ?"}, {"role": "assistant", "content": "The prognosis for MLD is poor. Most children within the infantile form die by age 5. Symptoms of the juvenile form progress with death occurring 10 to 20 years following onset. Those persons affected by the adult form typically die withing 6 to 14 years following onset of symptoms.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to cyclic vomiting syndrome ?"}, {"role": "assistant", "content": "Although the causes of cyclic vomiting syndrome have yet to be determined, researchers have proposed several factors that may contribute to the disorder. These factors include changes in brain function, hormonal abnormalities, and gastrointestinal problems. Many researchers believe that cyclic vomiting syndrome is a migraine-like condition, which suggests that it is related to changes in signaling between nerve cells (neurons) in certain areas of the brain. Many affected individuals have abnormalities of the autonomic nervous system, which controls involuntary body functions such as heart rate, blood pressure, and digestion. Based on these abnormalities, cystic vomiting syndrome is often classified as a type of dysautonomia. Some cases of cyclic vomiting syndrome, particularly those that begin in childhood, may be related to changes in mitochondrial DNA. Mitochondria are structures within cells that convert the energy from food into a form that cells can use. Although most DNA is packaged in chromosomes within the nucleus, mitochondria also have a small amount of their own DNA (known as mitochondrial DNA or mtDNA). Several changes in mitochondrial DNA have been associated with cyclic vomiting syndrome. Some of these changes alter single DNA building blocks (nucleotides), whereas others rearrange larger segments of mitochondrial DNA. These changes likely impair the ability of mitochondria to produce energy. Researchers speculate that the impaired mitochondria may cause certain cells of the autonomic nervous system to malfunction, which could affect the digestive system. However, it remains unclear how changes in mitochondrial function could cause episodes of nausea, vomiting, and lethargy; abdominal pain; or migraines in people with this condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Poland syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Poland syndrome? Signs and symptoms of Poland syndrome may be slight to severe. Some people with Poland syndrome have only absence of the breast tissue, while others may be missing all or part of the chest muscle and underlying ribs. Symptoms tend to occur on one side of the body. Below we have listed symptoms that can be found in this condition: Absence of some of the chest muscles. The end of the main chest muscle, where it attaches to the breastbone, is usually missing. The nipple, including the darkened area around it (areola) is underdeveloped or missing; in females, this may extend to the breast and underlying tissues. Abnormally short and slightly webbed fingers. Often, the armpit (axillary) hair is missing. The skin in the area is underdeveloped (hypoplastic) with a thinned subcutaneous fat layer. The upper rib cage can be underdeveloped or missing, Sometimes the shoulder blade or bones of the arm are also involved, Rarely, spine or kidney problems are present. The Human Phenotype Ontology provides the following list of signs and symptoms for Poland syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia of the pectoralis major muscle 90% Aplasia/Hypoplasia of the nipples 90% Asymmetry of the thorax 90% Breast aplasia 90% Brachydactyly syndrome 50% Finger syndactyly 50% Split hand 50% Abnormal dermatoglyphics 7.5% Abnormality of the humerus 7.5% Abnormality of the liver 7.5% Abnormality of the lower limb 7.5% Abnormality of the ribs 7.5% Abnormality of the sternum 7.5% Abnormality of the ulna 7.5% Absent hand 7.5% Acute leukemia 7.5% Aplasia/Hypoplasia of the radius 7.5% Aplasia/Hypoplasia of the thumb 7.5% Cone-shaped epiphysis 7.5% Congenital diaphragmatic hernia 7.5% Low posterior hairline 7.5% Microcephaly 7.5% Neoplasm of the breast 7.5% Reduced bone mineral density 7.5% Renal hypoplasia/aplasia 7.5% Retinal hamartoma 7.5% Scoliosis 7.5% Short neck 7.5% Situs inversus totalis 7.5% Abnormality of the breast - Absence of pectoralis minor muscle - Autosomal dominant inheritance - Dextrocardia - Hemivertebrae - Hypoplasia of deltoid muscle - Hypoplasia of latissimus dorsi muscle - Hypoplasia of serratus anterior muscle - Rib fusion - Short ribs - Sprengel anomaly - Syndactyly - Unilateral absence of pectoralis major muscle - Unilateral brachydactyly - Unilateral hypoplasia of pectoralis major muscle - Unilateral oligodactyly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Crigler Najjar syndrome, type 2 ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Crigler Najjar syndrome, type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Crigler Najjar syndrome, type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the liver 90% Autosomal recessive inheritance - Jaundice - Unconjugated hyperbilirubinemia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Carpenter syndrome inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Limb-girdle muscular dystrophy ?"}, {"role": "assistant", "content": "Limb-girdle muscular dystrophy is a group of disorders which affect the voluntary muscles around the hips and shoulders. The conditions are progressive, leading to a loss of muscle strength and bulk over a number of years. Onset may occur in childhood, adolescence, young adulthood, or even later. Males and females are affected in equal numbers. Most forms of limb girdle muscular dystrophy are inherited in an autosomal recessive manner. Several rare forms are inherited in an autosomal dominant pattern. While there are no treatments which directly reverse the muscle weakness associated with this condition, supportive treatment can decrease the complications. There are at least 20 different types of limb-girdle muscular dystrophy.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Stiff person syndrome ?"}, {"role": "assistant", "content": "Stiff person syndrome (SPS) is a rare neurological disorder with features of an autoimmune disease. Symptoms may include muscle stiffness in the trunk and limbs, and heightened sensitivity to noise, touch, and emotional distress, which can set off muscle spasms. Affected people may also have abnormal postures, such as being hunched over. SPS affects twice as many women as men. It is frequently associated with other autoimmune diseases such as diabetes, thyroiditis, vitiligo, and pernicious anemia. The exact causes of SPS is not known. Treatment may involve high-dose diazepam, anti-convulsants, or intravenous immunoglobulin (IVIG).", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the stages of Childhood Astrocytomas ?"}, {"role": "assistant", "content": "Key Points\n - The grade of the tumor is used to plan cancer treatment. - Low-grade astrocytomas - High-grade astrocytomas - An MRI is done after surgery.\n \n \n The grade of the tumor is used to plan cancer treatment.\n Staging is the process used to find out how much cancer there is and if cancer has spread. It is important to know the stage in order to plan treatment. There is no standard staging system for childhood astrocytoma. Treatment is based on the following: - Whether the tumor is low grade or high grade. - Whether the tumor is newly diagnosed or recurrent (has come back after treatment). The grade of the tumor describes how abnormal the cancer cells look under a microscope and how quickly the tumor is likely to grow and spread. The following grades are used: Low-grade astrocytomas Low-grade astrocytomas are slow-growing and rarely spread to other parts of the brain and spinal cord or other parts of the body. There are many types of low-grade astrocytomas. Low-grade astrocytomas can be either: - Grade I tumors pilocytic astrocytoma, subependymal giant cell tumor, or angiocentric glioma. - Grade II tumors diffuse astrocytoma, pleomorphic xanthoastrocytoma, or choroid glioma of the third ventricle. Children who have neurofibromatosis type 1 may have more than one low-grade tumor in the brain. Children who have tuberous sclerosis have an increased risk of subependymal giant cell astrocytoma. High-grade astrocytomas High-grade astrocytomas are fast-growing and often spread within the brain and spinal cord. There are several types of high-grade astrocytomas. High grade astrocytomas can be either: - Grade III tumors anaplastic astrocytoma or anaplastic pleomorphic xanthoastrocytoma. - Grade IV tumors glioblastoma or diffuse midline glioma. Childhood astrocytomas usually do not spread to other parts of the body.\n \n \n An MRI is done after surgery.\n An MRI (magnetic resonance imaging) is done in the first few days after surgery. This is to find out how much tumor, if any, remains after surgery and to plan further treatment.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Weyers acrofacial dysostosis ?"}, {"role": "assistant", "content": "Weyers acrofacial dysostosis is a disorder that affects the development of the teeth, nails, and bones. Dental abnormalities can include small, peg-shaped teeth; fewer teeth than normal (hypodontia); and one front tooth instead of two (a single central incisor). Additionally, the lower jaw (mandible) may be abnormally shaped. People with Weyers acrofacial dysostosis have abnormally small or malformed fingernails and toenails. Most people with the condition are relatively short, and they may have extra fingers or toes (polydactyly). The features of Weyers acrofacial dysostosis overlap with those of another, more severe condition called Ellis-van Creveld syndrome. In addition to tooth and nail abnormalities, people with Ellis-van Creveld syndrome have very short stature and are often born with heart defects. The two conditions are caused by mutations in the same genes.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is familial paroxysmal nonkinesigenic dyskinesia inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is typically sufficient to cause the disorder. Almost everyone with a mutation in the PNKD gene will develop familial paroxysmal nonkinesigenic dyskinesia. In all reported cases, an affected person has inherited the mutation from one parent.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Do you have information about International Health"}, {"role": "assistant", "content": "Summary : The spread of a disease doesn't stop at a country's borders. With more people traveling to other countries and living in crowded cities, it's easier for germs to spread. Infectious diseases that start in one part of the world can quickly reach another. Drug resistance is on the rise, making it harder to treat certain diseases. Natural and man-made disasters create refugee populations with immediate and long-term health problems. Some of the major diseases currently affecting countries around the globe include HIV/AIDS, malaria, pandemic/avian flu, and tuberculosis. Many countries and health organizations are working together and sharing information on these and other health issues.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Primary Familial Brain Calcification ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Primary Familial Brain Calcification? The Human Phenotype Ontology provides the following list of signs and symptoms for Primary Familial Brain Calcification. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of neuronal migration 90% Cerebral calcification 90% Hepatomegaly 90% Intrauterine growth retardation 90% Microcephaly 90% Seizures 90% Subcutaneous hemorrhage 90% Thrombocytopenia 90% Ventriculomegaly 90% Opacification of the corneal stroma 50% Abnormal pyramidal signs 5% Adult onset - Athetosis - Autosomal dominant inheritance - Basal ganglia calcification - Bradykinesia - Calcification of the small brain vessels - Chorea - Dense calcifications in the cerebellar dentate nucleus - Depression - Dysarthria - Dysdiadochokinesis - Dystonia - Gait disturbance - Hyperreflexia - Limb dysmetria - Mask-like facies - Memory impairment - Mental deterioration - Parkinsonism - Postural instability - Progressive - Psychosis - Rigidity - Tremor - Urinary incontinence - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Who is at risk for Langerhans Cell Histiocytosis? ?"}, {"role": "assistant", "content": "Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. Talk with your doctor if you think you may be at risk. Risk factors for LCH include the following: - Having a parent who was exposed to certain chemicals such as benzene. - Having a parent who was exposed to metal, granite, or wood dust in the workplace. - A family history of cancer, including LCH. - Having infections as a newborn. - Having a personal history or family history of thyroid disease. - Smoking, especially in young adults. - Being Hispanic.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "what research (or clinical trials) is being done for Metastatic Squamous Neck Cancer with Occult Primary ?"}, {"role": "assistant", "content": "New types of treatment are being tested in clinical trials.\n This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). Hyperfractionated radiation therapy Hyperfractionated radiation therapy is a type of external radiation treatment in which a smaller than usual total daily dose of radiation is divided into two doses and the treatments are given twice a day. Hyperfractionated radiation therapy is given over the same period of time (days or weeks) as standard radiation therapy.\n \n \n Patients may want to think about taking part in a clinical trial.\n For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward.\n \n \n Patients can enter clinical trials before, during, or after starting their cancer treatment.\n Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Do you have information about Patient Safety"}, {"role": "assistant", "content": "Summary : You can help prevent medical errors by being an active member of your health care team. Research shows that patients who are more involved with their care tend to get better results. To reduce the risk of medical errors, you can - Ask questions if you have doubts or concerns. Take a relative or friend to your doctor appointment to help you ask questions and understand answers. - Make sure you understand what will happen if you need surgery - Tell your health care providers about all the medicines you take, including over-the-counter drugs and dietary supplements. Tell them if you have any allergies or bad reactions to anesthesia. Make sure you know how to take your medications correctly. - Get a second opinion about treatment options - Keep a copy of your own health history Agency for Healthcare Research and Quality", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is congenital plasminogen deficiency inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Fetal Alcohol Spectrum Disorders ?"}, {"role": "assistant", "content": "Alcohol can harm your baby at any stage during a pregnancy. That includes the earliest stages before you even know you are pregnant. Drinking alcohol can cause a group of conditions called fetal alcohol spectrum disorders (FASDs). Effects can include physical and behavioral problems such as trouble with - Learning and remembering - Understanding and following directions - Controlling emotions - Communicating and socializing - Daily life skills, such as feeding and bathing Fetal alcohol syndrome is the most serious type of FASD. People with fetal alcohol syndrome have facial abnormalities, including wide-set and narrow eyes, growth problems and nervous system abnormalities. FASDs last a lifetime. There is no cure for FASDs. Treatments can help. These include medicines to help with some symptoms and behavior therapy. No one treatment is right for every child. Centers for Disease Control and Prevention", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for familial hemophagocytic lymphohistiocytosis ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of familial hemophagocytic lymphohistiocytosis: - Gene Review: Gene Review: Hemophagocytic Lymphohistiocytosis, Familial - Genetic Testing Registry: Familial hemophagocytic lymphohistiocytosis - Genetic Testing Registry: Hemophagocytic lymphohistiocytosis, familial, 2 - Genetic Testing Registry: Hemophagocytic lymphohistiocytosis, familial, 3 - Genetic Testing Registry: Hemophagocytic lymphohistiocytosis, familial, 4 - Genetic Testing Registry: Hemophagocytic lymphohistiocytosis, familial, 5 - The Merck Manual for Healthcare Professionals - University of Minnesota: Pediatric Blood & Marrow Transplantation Center These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes inherited ?"}, {"role": "assistant", "content": "This condition is inherited in a mitochondrial pattern, which is also known as maternal inheritance. This pattern of inheritance applies to genes contained in mtDNA. Because egg cells, but not sperm cells, contribute mitochondria to the developing embryo, children can only inherit disorders resulting from mtDNA mutations from their mother. These disorders can appear in every generation of a family and can affect both males and females, but fathers do not pass traits associated with changes in mtDNA to their children. In most cases, people with MELAS inherit an altered mitochondrial gene from their mother. Less commonly, the disorder results from a new mutation in a mitochondrial gene and occurs in people with no family history of MELAS.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for xeroderma pigmentosum ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of xeroderma pigmentosum: - American Cancer Society: How are Squamous and Basal Cell Skin Cancer Diagnosed? - American Cancer Society: How is Melanoma Diagnosed? - Gene Review: Gene Review: Xeroderma Pigmentosum - Genetic Testing Registry: Xeroderma pigmentosum - Genetic Testing Registry: Xeroderma pigmentosum, complementation group b - Genetic Testing Registry: Xeroderma pigmentosum, group C - Genetic Testing Registry: Xeroderma pigmentosum, group D - Genetic Testing Registry: Xeroderma pigmentosum, group E - Genetic Testing Registry: Xeroderma pigmentosum, group F - Genetic Testing Registry: Xeroderma pigmentosum, group G - Genetic Testing Registry: Xeroderma pigmentosum, type 1 - Genetic Testing Registry: Xeroderma pigmentosum, variant type - MedlinePlus Encyclopedia: Xeroderma Pigmentosum - National Cancer Institute: Melanoma Treatment - National Cancer Institute: Skin Cancer Treatment - Xeroderma Pigmentosum Society, Inc.: Beta Carotene - Xeroderma Pigmentosum Society, Inc.: Ultraviolet Radiation and Protection These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Snyder-Robinson syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Snyder-Robinson syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Snyder-Robinson syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the pinna - Bifid uvula - Broad-based gait - Cleft palate - Cryptorchidism - Decreased muscle mass - Dental crowding - Dysarthria - Facial asymmetry - High, narrow palate - Hyperextensibility of the finger joints - Hypertelorism - Intellectual disability - Kyphoscoliosis - Long fingers - Long hallux - Long palm - Mandibular prognathia - Muscular hypotonia - Narrow palm - Nasal speech - Osteoporosis - Pectus carinatum - Pectus excavatum - Phenotypic variability - Recurrent fractures - Seizures - Severe Myopia - Short philtrum - Short stature - Talipes equinovarus - Tall stature - Thick lower lip vermilion - Webbed neck - Wide intermamillary distance - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Autoimmune hemolytic anemia ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Autoimmune hemolytic anemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Autoimmune hemolytic anemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autoimmunity 90% Hemolytic anemia 90% Migraine 90% Muscle weakness 90% Pallor 90% Respiratory insufficiency 90% Abnormality of the liver 50% Lymphoma 50% Abdominal pain 7.5% Abnormality of temperature regulation 7.5% Abnormality of urine homeostasis 7.5% Arrhythmia 7.5% Congestive heart failure 7.5% Splenomegaly 7.5% Abnormality of metabolism/homeostasis - Autoimmune hemolytic anemia - Autosomal recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by nonsyndromic aplasia cutis congenita ?"}, {"role": "assistant", "content": "Aplasia cutis congenita affects approximately 1 in 10,000 newborns. The incidence of the nonsyndromic form is unknown.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is cranioectodermal dysplasia inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Opitz G/BBB syndrome ?"}, {"role": "assistant", "content": "Opitz G/BBB syndrome is a genetic condition that causes several abnormalities along the midline of the body. \"G/BBB\" represents the first letters of the last names of the families first diagnosed with this disorder and \"Opitz\" is the last name of the doctor who first described the signs and symptoms. There are two forms of Opitz G/BBB syndrome, X-linked Opitz G/BBB syndrome and autosomal dominant Opitz G/BBB syndrome. The two forms are distinguished by their genetic causes and patterns of inheritance. The signs and symptoms of the two forms are generally the same. Nearly everyone with Opitz G/BBB syndrome has wide-spaced eyes (ocular hypertelorism). Affected individuals commonly have defects of the voice box (larynx), windpipe (trachea), or esophagus. These throat abnormalities can cause difficulty swallowing or breathing, in some cases resulting in recurrent pneumonia or life-threatening breathing problems. A common defect is a gap between the trachea and esophagus (laryngeal cleft) that allows food or fluids to enter the airway. The cleft can vary in size, and infants may struggle to breathe when feeding. Most males with Opitz G/BBB syndrome have genital abnormalities such as the urethra opening on the underside of the penis (hypospadias), undescended testes (cryptorchidism), an underdeveloped scrotum, or a scrotum divided into two lobes (bifid scrotum). These genital abnormalities can lead to problems in the urinary tract. Mild intellectual disability and developmental delay occur in about 50 percent of people with Opitz G/BBB syndrome. Affected individuals have delayed motor skills, such as walking, speech delay, and learning difficulties. Some people with Opitz G/BBB syndrome have features of autistic spectrum disorders, which are characterized by impaired communication and socialization skills. About half of affected individuals also have an opening in the lip (cleft lip) with or without an opening in the roof of the mouth (cleft palate). Some have cleft palate without cleft lip. Less common features of Opitz G/BBB syndrome, affecting less than half of people with this disorder, include minor heart defects, an obstruction of the anal opening (imperforate anus), and brain defects such as a small or absent connection between the left and right halves of the brain (corpus callosum). Distinct facial features that may be seen in this disorder include a prominent forehead, widow's peak hairline, flat nasal bridge, thin upper lip, and low-set ears. These features vary among affected individuals, even within the same family.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for inclusion body myopathy 2 ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of inclusion body myopathy 2: - Gene Review: Gene Review: GNE-Related Myopathy - Genetic Testing Registry: Inclusion body myopathy 2 - Genetic Testing Registry: Nonaka myopathy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Aneurysms ?"}, {"role": "assistant", "content": "An aneurysm is a bulge or \"ballooning\" in the wall of an artery. Arteries are blood vessels that carry oxygen-rich blood from the heart to other parts of the body. If an aneurysm grows large, it can burst and cause dangerous bleeding or even death. Most aneurysms occur in the aorta, the main artery that runs from the heart through the chest and abdomen. Aneurysms also can happen in arteries in the brain, heart and other parts of the body. If an aneurysm in the brain bursts, it causes a stroke. Aneurysms can develop and become large before causing any symptoms. Often doctors can stop aneurysms from bursting if they find and treat them early. They use imaging tests to find aneurysms. Often aneurysms are found by chance during tests done for other reasons. Medicines and surgery are the two main treatments for aneurysms. NIH: National Heart, Lung, and Blood Institute", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by Hirschsprung disease ?"}, {"role": "assistant", "content": "Hirschsprung disease occurs in approximately 1 in 5,000 newborns.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Diabetic Kidney Disease ?"}, {"role": "assistant", "content": "Diabetes is a complex group of diseases with a variety of causes. People with diabetes have high blood glucose, also called high blood sugar or hyperglycemia.\n \nDiabetes is a disorder of metabolism the way the body uses digested food for energy. The digestive tract breaks down carbohydratessugars and starches found in many foodsinto glucose, a form of sugar that enters the bloodstream. With the help of the hormone insulin, cells throughout the body absorb glucose and use it for energy.\n \nInsulin is made in the pancreas, an organ located behind the stomach and below the liver. As blood glucose levels rise after a meal, the pancreas is triggered to release insulin. The pancreas contains clusters of cells called pancreatic islets. Beta cells within the pancreatic islets make insulin and release it into the blood.\n \nDiabetes develops when the body doesnt make enough insulin, is not able to use insulin effectively, or both. As a result, glucose builds up in the blood instead of being absorbed by cells in the body. The bodys cells are then starved of energy despite high blood glucose levels.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Pilomatrixoma ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Pilomatrixoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Pilomatrixoma. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Pilomatrixoma - Somatic mutation - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Do you have information about Sexual Problems in Women"}, {"role": "assistant", "content": "Summary : There are many problems that can keep a woman from enjoying sex. They include - Lack of sexual desire - Inability to become aroused - Lack of orgasm, or sexual climax - Painful intercourse These problems may have physical or psychological causes. Physical causes may include conditions like diabetes, heart disease, nerve disorders, or hormone problems. Some drugs can also affect desire and function. Psychological causes may include work-related stress and anxiety. They may also include depression or concerns about marriage or relationship problems. For some women, the problem results from past sexual trauma. Occasional problems with sexual function are common. If problems last more than a few months or cause distress for you or your partner, you should see your health care provider.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Breast Cancer inherited ?"}, {"role": "assistant", "content": "Breast cancer is sometimes caused by inherited gene mutations (changes). The genes in cells carry the hereditary information that is received from a persons parents. Hereditary breast cancer makes up about 5% to 10% of all breast cancer. Some mutated genes related to breast cancer are more common in certain ethnic groups. Women who have certain gene mutations, such as a BRCA1 or BRCA2 mutation, have an increased risk of breast cancer. These women also have an increased risk of ovarian cancer, and may have an increased risk of other cancers. Men who have a mutated gene related to breast cancer also have an increased risk of breast cancer. For more information, see the PDQ summary on Male Breast Cancer Treatment. There are tests that can detect (find) mutated genes. These genetic tests are sometimes done for members of families with a high risk of cancer. See the PDQ summary on Genetics of Breast and Gynecologic Cancers for more information.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Laron syndrome ?"}, {"role": "assistant", "content": "Laron syndrome is a rare form of short stature that results from the body's inability to use growth hormone, a substance produced by the brain's pituitary gland that helps promote growth. Affected individuals are close to normal size at birth, but they experience slow growth from early childhood that results in very short stature. If the condition is not treated, adult males typically reach a maximum height of about 4.5 feet; adult females may be just over 4 feet tall. Other features of untreated Laron syndrome include reduced muscle strength and endurance, low blood sugar levels (hypoglycemia) in infancy, small genitals and delayed puberty, hair that is thin and fragile, and dental abnormalities. Many affected individuals have a distinctive facial appearance, including a protruding forehead, a sunken bridge of the nose (saddle nose), and a blue tint to the whites of the eyes (blue sclerae). Affected individuals have short limbs compared to the size of their torso, as well as small hands and feet. Adults with this condition tend to develop obesity. However, the signs and symptoms of Laron syndrome vary, even among affected members of the same family. Studies suggest that people with Laron syndrome have a significantly reduced risk of cancer and type 2 diabetes. Affected individuals appear to develop these common diseases much less frequently than their unaffected relatives, despite having obesity (a risk factor for both cancer and type 2 diabetes). However, people with Laron syndrome do not seem to have an increased lifespan compared with their unaffected relatives.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to oculofaciocardiodental syndrome ?"}, {"role": "assistant", "content": "Mutations in the BCOR gene cause OFCD syndrome. The BCOR gene provides instructions for making a protein called the BCL6 corepressor. This protein helps regulate the activity of other genes. Little is known about the protein's function, although it appears to play an important role in early embryonic development. Several mutations in the BCOR gene have been found in people with OFCD syndrome. These mutations prevent the production of any functional protein from the altered gene, which disrupts the normal development of the eyes and several other organs and tissues before birth.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) 21-hydroxylase deficiency ?"}, {"role": "assistant", "content": "21-hydroxylase deficiency is an inherited disorder that affects the adrenal glands. The adrenal glands are located on top of the kidneys and produce a variety of hormones that regulate many essential functions in the body. In people with 21-hydroxylase deficiency, the adrenal glands produce excess androgens, which are male sex hormones. There are three types of 21-hydroxylase deficiency. Two types are classic forms, known as the salt-wasting and simple virilizing types. The third type is called the non-classic type. The salt-wasting type is the most severe, the simple virilizing type is less severe, and the non-classic type is the least severe form. Males and females with either classic form of 21-hydroxylase deficiency tend to have an early growth spurt, but their final adult height is usually shorter than others in their family. Additionally, affected individuals may have a reduced ability to have biological children (decreased fertility). Females may also develop excessive body hair growth (hirsutism), male pattern baldness, and irregular menstruation. Approximately 75 percent of individuals with classic 21-hydroxylase deficiency have the salt-wasting type. Hormone production is extremely low in this form of the disorder. Affected individuals lose large amounts of sodium in their urine, which can be life-threatening in early infancy. Babies with the salt-wasting type can experience poor feeding, weight loss, dehydration, and vomiting. Individuals with the simple virilizing form do not experience salt loss. In both the salt-wasting and simple virilizing forms of this disorder, females typically have external genitalia that do not look clearly male or female (ambiguous genitalia). Males usually have normal genitalia, but the testes may be small. Females with the non-classic type of 21-hydroxylase deficiency have normal female genitalia. As affected females get older, they may experience hirsutism, male pattern baldness, irregular menstruation, and decreased fertility. Males with the non-classic type may have early beard growth and small testes. Some individuals with this type of 21-hydroxylase deficiency have no symptoms of the disorder.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Tay-Sachs disease inherited ?"}, {"role": "assistant", "content": "How is Tay-Sachs disease inherited? This condition is inherited in an autosomal recessive pattern, which means two copies of the gene in each cell are altered. Most often, the parents of an individual with an autosomal recessive disorder are carriers of one copy of the altered gene but do not show signs and symptoms of the disorder.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Hereditary Neuropathies ?"}, {"role": "assistant", "content": "There are no standard treatments for hereditary neuropathies. Treatment is mainly symptomatic and supportive. Medical treatment includes physical therapy and if needed, pain medication. Orthopedic surgery may be needed to correct severe foot or other skeletal deformities. Bracing may also be used to improve mobility.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to frontotemporal dementia with parkinsonism-17 ?"}, {"role": "assistant", "content": "FTDP-17 is caused by mutations in the MAPT gene. This gene is located on chromosome 17, which is how the disease got its name. The MAPT gene provides instructions for making a protein called tau. This protein is found throughout the nervous system, including in nerve cells (neurons) in the brain. It is involved in assembling and stabilizing microtubules, which are rigid, hollow fibers that make up the cell's structural framework (the cytoskeleton). Microtubules help cells maintain their shape, assist in the process of cell division, and are essential for the transport of materials within cells. Mutations in the MAPT gene disrupt the normal structure and function of tau. The defective protein assembles into abnormal clumps within neurons and other brain cells. However, it is unclear what effect these clumps have on cell function and survival. FTDP-17 is characterized by the gradual death of cells in areas of the brain called the frontal and temporal lobes. The frontal lobes are involved in reasoning, planning, judgment, and problem-solving, while the temporal lobes help process hearing, speech, memory, and emotion. A loss of cells in these brain regions leads to personality changes, speech difficulties, and the other features of FTDP-17. FTDP-17 is one of several related diseases known as tauopathies, which are characterized by an abnormal buildup of tau in the brain.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Dislocations ?"}, {"role": "assistant", "content": "Dislocations are joint injuries that force the ends of your bones out of position. The cause is often a fall or a blow, sometimes from playing a contact sport. You can dislocate your ankles, knees, shoulders, hips, elbows and jaw. You can also dislocate your finger and toe joints. Dislocated joints often are swollen, very painful and visibly out of place. You may not be able to move it. A dislocated joint is an emergency. If you have one, seek medical attention. Treatment depends on which joint you dislocate and the severity of the injury. It might include manipulations to reposition your bones, medicine, a splint or sling, and rehabilitation. When properly repositioned, a joint will usually function and move normally again in a few weeks. Once you dislocate a shoulder or kneecap, you are more likely to dislocate it again. Wearing protective gear during sports may help prevent dislocations.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by Stve-Wiedemann syndrome ?"}, {"role": "assistant", "content": "Stve-Wiedemann syndrome is a rare condition that has been found worldwide. Its prevalence is unknown.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Bell's Palsy ?"}, {"role": "assistant", "content": "Bell's palsy is a form of temporary facial paralysis resulting from damage or trauma to the 7th cranial nerve, one of the facial nerves. It is the most common cause of facial paralysis. Generally, Bell's palsy affects only one side of the face, however, in rare cases, it can affect both sides. Symptoms usually begin suddenly and reach their peak within 72 hours, and can range in severity from mild weakness to total paralysis. Symptoms vary among individuals and include sudden weakness on one side of the face, drooping eyelid or corner of the mouth, drooling, dry eye or mouth, altered taste, and excessive tearing in the eye. Bells palsy can cause significant facial distortion. The exact cause of Bell's palsy isn't known, but many scientists believe that reactivation of a dormant viral infection can cause the facial nerve to swell and becomes inflamed. Several other conditions can cause facial paralysis that might be diagnosed as Bell's palsy..", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) hypermethioninemia ?"}, {"role": "assistant", "content": "Hypermethioninemia is an excess of a particular protein building block (amino acid), called methionine, in the blood. This condition can occur when methionine is not broken down (metabolized) properly in the body. People with hypermethioninemia often do not show any symptoms. Some individuals with hypermethioninemia exhibit intellectual disability and other neurological problems; delays in motor skills such as standing or walking; sluggishness; muscle weakness; liver problems; unusual facial features; and their breath, sweat, or urine may have a smell resembling boiled cabbage. Hypermethioninemia can occur with other metabolic disorders, such as homocystinuria, tyrosinemia and galactosemia, which also involve the faulty breakdown of particular molecules. It can also result from liver disease or excessive dietary intake of methionine from consuming large amounts of protein or a methionine-enriched infant formula.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Marburg hemorrhagic fever (Marburg HF) ?"}, {"role": "assistant", "content": "After an incubation period of 5-10 days, symptom onset is sudden and marked by fever, chills, headache, and myalgia. Around the fifth day after the onset of symptoms, a maculopapular rash, most prominent on the trunk (chest, back, stomach), may occur. Nausea, vomiting, chest pain, a sore throat, abdominal pain, and diarrhea may then appear. Symptoms become increasingly severe and can include jaundice, inflammation of the pancreas, severe weight loss, delirium, shock, liver failure, massive hemorrhaging, and multi-organ dysfunction. \n \nBecause many of the signs and symptoms of Marburg hemorrhagic fever are similar to those of other infectious diseases such as malaria or typhoid fever, clinical diagnosis of the disease can be difficult, especially if only a single case is involved. \n \nThe case-fatality rate for Marburg hemorrhagic fever is between 23-90%. For a complete listing of the case fatality rates for previous outbreaks, please see the History of Outbreaks table", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for limb-girdle muscular dystrophy ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of limb-girdle muscular dystrophy: - Cleveland Clinic - Gene Review: Gene Review: Limb-Girdle Muscular Dystrophy Overview - Genetic Testing Registry: Limb-girdle muscular dystrophy - Genetic Testing Registry: Limb-girdle muscular dystrophy, type 1A - Genetic Testing Registry: Limb-girdle muscular dystrophy, type 1B - Genetic Testing Registry: Limb-girdle muscular dystrophy, type 1C - Genetic Testing Registry: Limb-girdle muscular dystrophy, type 1E - Genetic Testing Registry: Limb-girdle muscular dystrophy, type 1F - Genetic Testing Registry: Limb-girdle muscular dystrophy, type 1G - Genetic Testing Registry: Limb-girdle muscular dystrophy, type 1H - Genetic Testing Registry: Limb-girdle muscular dystrophy, type 2A - Genetic Testing Registry: Limb-girdle muscular dystrophy, type 2B - Genetic Testing Registry: Limb-girdle muscular dystrophy, type 2D - Genetic Testing Registry: Limb-girdle muscular dystrophy, type 2E - Genetic Testing Registry: Limb-girdle muscular dystrophy, type 2F - Genetic Testing Registry: Limb-girdle muscular dystrophy, type 2G - Genetic Testing Registry: Limb-girdle muscular dystrophy, type 2J - Genetic Testing Registry: Limb-girdle muscular dystrophy, type 2L - Genetic Testing Registry: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 - Genetic Testing Registry: Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 - Genetic Testing Registry: Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 - Genetic Testing Registry: Limb-girdle muscular dystrophy-dystroglycanopathy, type C4 - Genetic Testing Registry: Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 - Johns Hopkins Medicine - LGMD-Diagnosis.org These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity? The Human Phenotype Ontology provides the following list of signs and symptoms for Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the eyelashes 90% Cognitive impairment 90% Cryptorchidism 90% EEG abnormality 90% Hypoplasia of penis 90% Microcephaly 90% Obesity 90% Sloping forehead 90% Thick lower lip vermilion 90% Attention deficit hyperactivity disorder 50% Downturned corners of mouth 50% Full cheeks 50% Hyperreflexia 50% Hypertonia 50% Muscular hypotonia 50% Nystagmus 50% Reduced number of teeth 50% Seizures 50% Talipes 50% Tapered finger 50% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for familial restrictive cardiomyopathy ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of familial restrictive cardiomyopathy: - Genetic Testing Registry: Familial restrictive cardiomyopathy - Genetic Testing Registry: Familial restrictive cardiomyopathy 1 - Genetic Testing Registry: Familial restrictive cardiomyopathy 2 - Genetic Testing Registry: Familial restrictive cardiomyopathy 3 - Johns Hopkins Medicine: Cardiomyopathy/Heart Failure - MedlinePlus Encyclopedia: Restrictive Cardiomyopathy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to proopiomelanocortin deficiency ?"}, {"role": "assistant", "content": "POMC deficiency is caused by mutations in the POMC gene, which provides instructions for making the proopiomelanocortin protein. This protein is cut (cleaved) into smaller pieces called peptides that have different functions in the body. One of these peptides, ACTH, stimulates the release of another hormone called cortisol from the adrenal glands. Cortisol is involved in the maintenance of blood sugar levels. Another peptide, alpha-melanocyte stimulating hormone (-MSH), plays a role in the production of the pigment that gives skin and hair their color. The -MSH peptide and another peptide called beta-melanocyte stimulating hormone (-MSH) act in the brain to help maintain the balance between energy from food taken into the body and energy spent by the body. The correct balance is important to control eating and weight. POMC gene mutations that cause POMC deficiency result in production of an abnormally short version of the POMC protein or no protein at all. As a result, there is a shortage of the peptides made from POMC, including ACTH, -MSH, and -MSH. Without ACTH, there is a reduction in cortisol production, leading to adrenal insufficiency. Decreased -MSH in the skin reduces pigment production, resulting in the red hair and pale skin often seen in people with POMC deficiency. Loss of -MSH and -MSH in the brain dysregulates the body's energy balance, leading to overeating and severe obesity. POMC deficiency is a rare cause of obesity; POMC gene mutations are not frequently associated with more common, complex forms of obesity. Researchers are studying other factors that are likely involved in these forms.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Autoimmune Hepatitis ?"}, {"role": "assistant", "content": "The most common symptoms of autoimmune hepatitis are\n \n- fatigue - joint pain - nausea - loss of appetite - pain or discomfort over the liver - skin rashes - dark yellow urine - light-colored stools - jaundice, or yellowing of the skin and whites of the eyes\n \nSymptoms of autoimmune hepatitis range from mild to severe. Some people may feel as if they have a mild case of the flu. Others may have no symptoms when a health care provider diagnoses the disease; however, they can develop symptoms later.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Dumping Syndrome ?"}, {"role": "assistant", "content": "Dumping syndrome occurs when food, especially sugar, moves too fast from the stomach to the duodenumthe first part of the small intestinein the upper gastrointestinal (GI) tract. This condition is also called rapid gastric emptying. Dumping syndrome has two forms, based on when symptoms occur:\n \n- early dumping syndromeoccurs 10 to 30 minutes after a meal - late dumping syndromeoccurs 2 to 3 hours after a meal", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Lymphocytic Choriomeningitis (LCM) ?"}, {"role": "assistant", "content": "During the first phase of the disease, the most common laboratory abnormalities are a low white blood cell count (leukopenia) and a low platelet count (thrombocytopenia). Liver enzymes in the serum may also be mildly elevated. After the onset of neurological disease during the second phase, an increase in protein levels, an increase in the number of white blood cells or a decrease in the glucose levels in the cerebrospinal fluid (CSF) is usually found. \n \nLaboratory diagnosis is usually made by detecting IgM and IgG antibodies in the CSF and serum. Virus can be detected by PCR or virus isolation in the CSF at during the acute stage of illness.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Vasculitis ?"}, {"role": "assistant", "content": "Your doctor will diagnose vasculitis based on your signs and symptoms, your medical history, a physical exam, and test results.\n \nSpecialists Involved\n \nDepending on the type of vasculitis you have and the organs affected, your doctor may refer you to various specialists, including:\n \nA rheumatologist (joint and muscle specialist)\n \nAn infectious disease specialist\n \nA dermatologist (skin specialist)\n \nA pulmonologist (lung specialist)\n \nA nephrologist (kidney specialist)\n \nA neurologist (nervous system specialist)\n \nA cardiologist (heart specialist)\n \nAn ophthalmologist (eye specialist)\n \nA urologist (urinary tract and urogenital system specialist)\n \nDiagnostic Tests and Procedures\n \nMany tests are used to diagnose vasculitis.\n \nBlood Tests\n \nBlood tests can show whether you have abnormal levels of certain blood cells and antibodies (proteins) in your blood. These tests may look at:\n \nHemoglobin and hematocrit. A low hemoglobin or hematocrit level suggests anemia, a complication of vasculitis. Vasculitis can interfere with the body's ability to make enough red blood cells. Vasculitis also can be linked to increased destruction of red blood cells.\n \nAntineutrophil cytoplasmic antibodies (ANCA). These antibodies are present in people who have certain types of vasculitis.\n \nErythrocyte sedimentation rate (ESR). A high ESR may be a sign of inflammation in the body.\n \nThe amount of C-reactive protein (CRP) in your blood. A high CRP level suggests inflammation.\n \nBiopsy\n \nA biopsy often is the best way for your doctor to make a firm diagnosis of vasculitis. During a biopsy, your doctor will take a small sample of your body tissue to study under a microscope. He or she will take the tissue sample from a blood vessel or an organ.\n \nA pathologist will study the sample for signs of inflammation or tissue damage. A pathologist is a doctor who specializes in identifying diseases by studying cells and tissues under a microscope.\n \nBlood Pressure\n \nPeople who have vasculitis should have their blood pressure checked routinely. Vasculitis that damages the kidneys can cause high blood pressure.\n \nUrinalysis\n \nFor this test, you'll provide a urine sample for analysis. This test detects abnormal levels of protein or blood cells in the urine. Abnormal levels of these substances can be a sign of vasculitis affecting the kidneys.\n \nEKG (Electrocardiogram)\n \nAn EKG is a simple, painless test that records the heart's electrical activity. You might have this test to show whether vasculitis is affecting your heart.\n \nEchocardiography\n \nEchocardiography is a painless test that uses sound waves to create a moving picture of your heart. The test gives information about the size and shape of your heart and how well your heart chambers and valves are working.\n \nChest X Ray\n \nA chest x ray is a painless test that creates pictures of the structures inside your chest, such as your heart, lungs, and blood vessels. Abnormal chest x-ray results may show whether vasculitis is affecting your lungs or your large arteries (such as the aorta or the pulmonary arteries).\n \nLung Function Tests\n \nLung function tests measure how much air you can breathe in and out, how fast you can breathe air out, and how well your lungs deliver oxygen to your blood.\n \nLung function tests can help your doctor find out whether airflow into and out of your lungs is restricted or blocked.\n \nAbdominal Ultrasound\n \nAn abdominal ultrasound uses sound waves to create a picture of the organs and structures in your abdomen. The picture may show whether vasculitis is affecting your abdominal organs.\n \nComputed Tomography Scan\n \nA computed tomography (to-MOG-rah-fee) scan, or CT scan, is a type of x ray that creates more detailed pictures of your internal organs than a standard x ray. The results from this test can show whether you have a type of vasculitis that affects your abdominal organs or blood vessels.\n \nMagnetic Resonance Imaging\n \nA magnetic resonance imaging (MRI) test uses radio waves, magnets, and a computer to create detailed pictures of your internal organs.\n \nOther Advanced Imaging Techniques\n \nSeveral new imaging techniques are now being used to help diagnose vasculitis. Duplex ultrasonography combines an image of the structure of the blood vessel with a color image of the blood flow through that vein or artery. 18F-fluorodeoxyglucose positron emission tomography (FDG-PET) identifies areas that show higher glucose metabolism leading to problems in the blood vessels.\n \nAngiography\n \nAngiography (an-jee-OG-ra-fee) is a test that uses dye and special x rays to show blood flowing through your blood vessels.\n \nThe dye is injected into your bloodstream. Special x-ray pictures are taken while the dye flows through your blood vessels. The dye helps highlight the vessels on the x-ray pictures.\n \nDoctors use angiography to help find out whether blood vessels are narrowed, swollen, deformed, or blocked.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Thymic-Renal-Anal-Lung dysplasia ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Thymic-Renal-Anal-Lung dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Thymic-Renal-Anal-Lung dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal lung lobation 90% Abnormality of female internal genitalia 90% Abnormality of the fingernails 90% Abnormality of the nose 90% Abnormality of the parathyroid gland 90% Aplasia/Hypoplasia of the lungs 90% Aplasia/Hypoplasia of the thymus 90% Hypoplasia of the ear cartilage 90% Hypoplastic toenails 90% Intestinal malrotation 90% Intrauterine growth retardation 90% Low-set, posteriorly rotated ears 90% Malar flattening 90% Multicystic kidney dysplasia 90% Oligohydramnios 90% Urogenital fistula 90% Abnormality of metabolism/homeostasis - Abnormality of the endocrine system - Abnormality of the respiratory system - Anal atresia - Autosomal recessive inheritance - Renal agenesis - Ureteral agenesis - Ureteral dysgenesis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Who is at risk for Kyasanur Forest Disease (KFD)? ?"}, {"role": "assistant", "content": "Transmission to humans may occur after a tick bite or contact with an infected animal, most importantly a sick or recently dead monkey. No person-to-person transmission has been described. \n \nLarge animals such as goats, cows, and sheep may become infected with KFD but play a limited role in the transmission of the disease. These animals provide the blood meals for ticks and it is possible for infected animals with viremia to infect other ticks, but transmission of KFDV to humans from these larger animals is extremely rare. Furthermore, there is no evidence of disease transmission via the unpasteurized milk of any of these animals.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Microgastria limb reduction defect ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Microgastria limb reduction defect? The Human Phenotype Ontology provides the following list of signs and symptoms for Microgastria limb reduction defect. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the spleen 90% Aplasia/Hypoplasia of the radius 90% Aplasia/Hypoplasia of the thumb 90% Microgastria 90% Abnormality of the humerus 50% Abnormality of the metacarpal bones 50% Abnormality of the ulna 50% Congenital muscular torticollis 50% Frontal bossing 50% Multicystic kidney dysplasia 50% Plagiocephaly 50% Abnormal localization of kidney 7.5% Abnormal lung lobation 7.5% Abnormality of neuronal migration 7.5% Abnormality of the clavicle 7.5% Absent hand 7.5% Amelia 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Atria septal defect 7.5% Elbow dislocation 7.5% Hepatomegaly 7.5% Holoprosencephaly 7.5% Intestinal malrotation 7.5% Phocomelia 7.5% Renal hypoplasia/aplasia 7.5% Split hand 7.5% Tracheoesophageal fistula 7.5% Truncus arteriosus 7.5% Urogenital fistula 7.5% Absent gallbladder - Absent thumb - Aganglionic megacolon - Agenesis of corpus callosum - Anophthalmia - Arrhinencephaly - Asplenia - Bicornuate uterus - Biliary tract abnormality - Cryptorchidism - Cystic renal dysplasia - Failure to thrive - Fusion of the left and right thalami - Gastroesophageal reflux - Horseshoe kidney - Hypoplasia of the radius - Hypoplasia of the ulna - Oligodactyly (hands) - Pelvic kidney - Polymicrogyria - Secundum atrial septal defect - Sporadic - Type I truncus arteriosus - Unilateral renal agenesis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Farber lipogranulomatosis inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Danon disease ?"}, {"role": "assistant", "content": "How might the cardiomyopathy in Danon disease be treated? Because Danon disease can be associated with rapidly progressive cardiomyopathy and sudden death, careful monitoring of heart disease is required. Aggressive interventions may be recommended for people showing signs of progressive heart failure (e.g., early intervention with heart transplantation or implantable cardioverter-defibrillator). However, the severity of cardiomyopathy does vary, particularly in females. Management will depend on the presence and severity of the heart disease, and will be tailored to the needs of the patient.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is spondylothoracic dysostosis inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose 11-beta-hydroxylase deficiency ?"}, {"role": "assistant", "content": "Is genetic testing available for 11-beta-hydroxylase deficiency? Yes. GeneTests lists laboratories offering clinical genetic testing for this condition. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues. Talk to your health care provider or a genetic professional to learn more about your testing options.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to prevent Parasites - Angiostrongyliasis (also known as Angiostrongylus Infection) ?"}, {"role": "assistant", "content": "Angiostrongylus cantonensis\n \nPrevention of A. cantonensis infections involves educating persons residing in or traveling to areas where the parasite is found about not ingesting raw or undercooked snails and slugs, freshwater shrimp, land crabs, frogs, and monitor lizards, or potentially contaminated vegetables, or vegetable juice. Removing snails, slugs, and rats found near houses and gardens should also help reduce risk. Thoroughly washing hands and utensils after preparing raw snails or slugs is also recommended. Vegetables should be thoroughly washed if eaten raw.\n Angiostrongylus costaricensis\n \nPrevention of A. costaricensis infections involves educating persons residing in and traveling to areas where the parasite is known to be found about not ingesting raw or undercooked slugs or potentially contaminated vegetables or vegetable juices. Removing slugs and rats found near houses and gardens should help reduce risk. Thoroughly washing hands and utensils after preparing raw slugs is also recommended. Vegetables should be thoroughly washed if eaten raw.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Bartter syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Bartter syndrome? The signs and symptoms associated with Bartter syndrome can vary depending on the form of Bartter syndrome an affected individual has. The antenatal forms (beginning before birth) can be life-threatening, while the classical form, beginning in early childhood, tends to be less severe. The antenatal forms of Bartter syndrome (types I, II and IV) may first be characterized by abnormally high levels of amniotic fluid surrounding the affected fetus (polyhydramnios); premature delivery; and possibly life-threatening salt (sodium-chloride) loss. Affected newborns may have fever, vomiting, diarrhea, failure to thrive, delayed growth, intellectual disability, and/or distinctive facial features (triangular face, prominent forehead, large eyes, protruding ears, and drooping mouth). Individuals with type IV may also have sensorineural deafness (hearing loss caused by abnormalities in the inner ear). Classical Bartter syndrome typically becomes apparent in infancy and is characterized by failure to thrive and constipation in the first year of life. Symptoms may include salt craving, fatigue, muscle weakness, growth delay and developmental delay. Loss of excess sodium chloride through the urine can lead to dehydration, constipation, and increased urine production (polyuria). Loss of excess calcium through the urine (hypercalciuria) can cause weakening of the bones (osteopenia). When this excess calcium becomes deposited in the kidneys, tissue in the kidneys can become hardened (nephrocalcinosis). Low levels of potassium in the blood (hypokalemia) cause the muscle weakness, cramping, and fatigue in affected individuals. The Human Phenotype Ontology provides the following list of signs and symptoms for Bartter syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal renal physiology 90% Abnormality of metabolism/homeostasis 90% Short stature 90% Hypocalciuria 7.5% Hypomagnesemia 7.5% Abnormality of the choroid - Abnormality of the retinal vasculature - Abnormality of the sclera - Autosomal recessive inheritance - Chondrocalcinosis - Congenital onset - Constipation - Decreased glomerular filtration rate - Dehydration - Diarrhea - Edema - Failure to thrive - Fetal polyuria - Fever - Frontal bossing - Generalized muscle weakness - Global glomerulosclerosis - Heterogeneous - Hydrops fetalis - Hyperactive renin-angiotensin system - Hyperaldosteronism - Hypercalciuria - Hyperchloridura - Hypernatriuria - Hyperprostaglandinuria - Hypochloremia - Hypokalemia - Hypokalemic hypochloremic metabolic alkalosis - Hypokalemic metabolic alkalosis - Hyponatremia - Hyporeflexia - Hyposthenuria - Hypotension - Impaired platelet aggregation - Impaired reabsorption of chloride - Increased circulating renin level - Increased serum prostaglandin E2 - Increased urinary potassium - Intellectual disability - Large eyes - Low-to-normal blood pressure - Macrocephaly - Macrotia - Motor delay - Muscle cramps - Muscular hypotonia - Nephrocalcinosis - Osteopenia - Paresthesia - Polydipsia - Polyhydramnios - Polyuria - Premature birth - Prominent forehead - Reduced renal corticomedullary differentiation - Renal insufficiency - Renal juxtaglomerular cell hypertrophy/hyperplasia - Renal potassium wasting - Renal salt wasting - Seizures - Sensorineural hearing impairment - Small for gestational age - Tetany - Triangular face - Tubulointerstitial fibrosis - Vomiting - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Who is at risk for Bile Duct Cancer (Cholangiocarcinoma)? ?"}, {"role": "assistant", "content": "Having colitis or certain liver diseases can increase the risk of bile duct cancer. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. People who think they may be at risk should discuss this with their doctor. Risk factors for bile duct cancer include the following conditions: - Primary sclerosing cholangitis (a progressive disease in which the bile ducts become blocked by inflammation and scarring). - Chronic ulcerative colitis. - Cysts in the bile ducts (cysts block the flow of bile and can cause swollen bile ducts, inflammation, and infection). - Infection with a Chinese liver fluke parasite.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Marfan Syndrome ?"}, {"role": "assistant", "content": "Marfan syndrome is a disorder that affects connective tissue. Connective tissues are proteins that support skin, bones, blood vessels, and other organs. One of these proteins is fibrillin. A problem with the fibrillin gene causes Marfan syndrome. Marfan syndrome can be mild to severe, and the symptoms can vary. People with Marfan syndrome are often very tall, thin, and loose jointed. Most people with Marfan syndrome have heart and blood vessel problems, such as a weakness in the aorta or heart valves that leak. They may also have problems with their bones, eyes, skin, nervous system, and lungs. There is no single test to diagnose Marfan syndrome. Your doctor may use your medical history, family history, and a physical exam to diagnose it. Marfan syndrome has no cure, but treatments can help delay or prevent complications. Treatments include medicines, surgery, and other therapies. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Graham-Cox syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Graham-Cox syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Graham-Cox syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Conductive hearing impairment 90% High forehead 90% Low-set, posteriorly rotated ears 90% Macrocephaly 90% Nystagmus 90% Pectus excavatum 90% Scoliosis 90% Sensorineural hearing impairment 90% Short neck 90% Short stature 90% Choanal atresia 50% Cleft palate 50% Iris coloboma 50% Patent ductus arteriosus 50% Prominent nasal bridge 50% Ventricular septal defect 50% Agenesis of corpus callosum - Broad neck - Cupped ear - High palate - Intellectual disability - Low-set ears - Optic nerve coloboma - Retrognathia - Visual impairment - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Eosinophilic enteropathy ?"}, {"role": "assistant", "content": "Eosinophilic enteropathy is a condition that causes a type of white blood cell called an eosinophil to build up in the gastrointestinal system and in the blood. Eosinophils play a role in the bodys immune response by releasing toxins. Eosinophils are associated with allergic-type reactions, but their specific function is largely unknown.When eosinophils build up in the gastrointestinal tract, this begins to affect the body by causing polyps, tissue break down, inflammation, and ulcers. Eosinophilic enteropathy can occur in children or adults and is characterized by intolerance to some foods. Eosinophilic enteropathy can affect any part of the gastrointestinal tract, and is often named by the part affected: colon (colitis), esophagus (esophagitis), stomach (gastritis), or both the stomach and small intestine (gastroenteritis).", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Seminoma ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Seminoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Seminoma. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis - Cryptorchidism - Gonadal dysgenesis - Sporadic - Teratoma - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "what research (or clinical trials) is being done for Primary CNS Lymphoma ?"}, {"role": "assistant", "content": "New types of treatment are being tested in clinical trials.\n This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. High-dose chemotherapy with stem cell transplant High-dose chemotherapy with stem cell transplant is a method of giving high doses of chemotherapy and replacing blood -forming cells destroyed by the cancer treatment. Stem cells (immature blood cells) are removed from the blood or bone marrow of the patient or a donor and are frozen and stored. After the chemotherapy is completed, the stored stem cells are thawed and given back to the patient through an infusion. These reinfused stem cells grow into (and restore) the body's blood cells. Targeted therapy Targeted therapy is a type of treatment that uses drugs or other substances to attack cancer cells. Targeted therapies usually cause less harm to normal cells than chemotherapy or radiation therapy do. Monoclonal antibody therapy is one type of targeted therapy being studied in the treatment of primary CNS lymphoma. Monoclonal antibody therapy is a cancer treatment that uses antibodies made in the laboratory from a single type of immune system cell. These antibodies can identify substances on cancer cells or normal substances that may help cancer cells grow. The antibodies attach to the substances and kill the cancer cells, block their growth, or keep them from spreading. Monoclonal antibodies are given by infusion. They may be used alone or to carry drugs, toxins, or radioactive material directly to cancer cells. Rituximab is a type of monoclonal antibody used to treat newly diagnosed primary CNS lymphoma in patients who do not have AIDS.\n \n \n Patients may want to think about taking part in a clinical trial.\n For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward.\n \n \n Patients can enter clinical trials before, during, or after starting their cancer treatment.\n Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to prostate cancer ?"}, {"role": "assistant", "content": "Cancers occur when genetic mutations build up in critical genes, specifically those that control cell growth and division or the repair of damaged DNA. These changes allow cells to grow and divide uncontrollably to form a tumor. In most cases of prostate cancer, these genetic changes are acquired during a man's lifetime and are present only in certain cells in the prostate. These changes, which are called somatic mutations, are not inherited. Somatic mutations in many different genes have been found in prostate cancer cells. Less commonly, genetic changes present in essentially all of the body's cells increase the risk of developing prostate cancer. These genetic changes, which are classified as germline mutations, are usually inherited from a parent. In people with germline mutations, changes in other genes, together with environmental and lifestyle factors, also influence whether a person will develop prostate cancer. Inherited mutations in particular genes, such as BRCA1, BRCA2, and HOXB13, account for some cases of hereditary prostate cancer. Men with mutations in these genes have a high risk of developing prostate cancer and, in some cases, other cancers during their lifetimes. In addition, men with BRCA2 or HOXB13 gene mutations may have a higher risk of developing life-threatening forms of prostate cancer. The proteins produced from the BRCA1 and BRCA2 genes are involved in fixing damaged DNA, which helps to maintain the stability of a cell's genetic information. For this reason, the BRCA1 and BRCA2 proteins are considered to be tumor suppressors, which means that they help keep cells from growing and dividing too fast or in an uncontrolled way. Mutations in these genes impair the cell's ability to fix damaged DNA, allowing potentially damaging mutations to persist. As these defects accumulate, they can trigger cells to grow and divide uncontrollably and form a tumor. The HOXB13 gene provides instructions for producing a protein that attaches (binds) to specific regions of DNA and regulates the activity of other genes. On the basis of this role, the protein produced from the HOXB13 gene is called a transcription factor. Like BRCA1 and BRCA2, the HOXB13 protein is thought to act as a tumor suppressor. HOXB13 gene mutations may result in impairment of the protein's tumor suppressor function, resulting in the uncontrolled cell growth and division that can lead to prostate cancer. Inherited variations in dozens of other genes have been studied as possible risk factors for prostate cancer. Some of these genes provide instructions for making proteins that interact with the proteins produced from the BRCA1, BRCA2, or HOXB13 genes. Others act as tumor suppressors through different pathways. Changes in these genes probably make only a small contribution to overall prostate cancer risk. However, researchers suspect that the combined influence of variations in many of these genes may significantly impact a person's risk of developing this form of cancer. In many families, the genetic changes associated with hereditary prostate cancer are unknown. Identifying additional genetic risk factors for prostate cancer is an active area of medical research. In addition to genetic changes, researchers have identified many personal and environmental factors that may contribute to a person's risk of developing prostate cancer. These factors include a high-fat diet that includes an excess of meat and dairy and not enough vegetables, a largely inactive (sedentary) lifestyle, obesity, excessive alcohol use, or exposure to certain toxic chemicals. A history of prostate cancer in closely related family members is also an important risk factor, particularly if the cancer occurred at an early age.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Ovarian Epithelial, Fallopian Tube, and Primary Peritoneal Cancer inherited ?"}, {"role": "assistant", "content": "Some ovarian, fallopian tube, and primary peritoneal cancers are caused by inherited gene mutations (changes). The genes in cells carry the hereditary information that is received from a persons parents. Hereditary ovarian cancer makes up about 20% of all cases of ovarian cancer. There are three hereditary patterns: ovarian cancer alone, ovarian and breast cancers, and ovarian and colon cancers. Fallopian tube cancer and peritoneal cancer may also be caused by certain inherited gene mutations. There are tests that can detect gene mutations. These genetic tests are sometimes done for members of families with a high risk of cancer. See the following PDQ summaries for more information: - Ovarian, Fallopian Tube, and Primary Peritoneal Cancer Prevention - Genetics of Breast and Gynecologic Cancers (for health professionals)", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Methylcobalamin deficiency cbl G type ?"}, {"role": "assistant", "content": "Methylcobalamin deficiency cbl G type is a rare condition that occurs when the body is unable to process certain amino acids (building blocks of protein) properly. In most cases, signs and symptoms develop during the first year of life; however, the age of onset can range from infancy to adulthood. Common features of the condition include feeding difficulties, lethargy, seizures, poor muscle tone (hypotonia), developmental delay, microcephaly (unusually small head size), and megaloblastic anemia. Methylcobalamin deficiency cbl G type is caused by changes (mutations) in the MTR gene and is inherited in an autosomal recessive manner. Treatment generally includes regular doses of hydroxycobalamin (vitamin B12). Some affected people may also require supplementation with folates and betaine.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for mucolipidosis III gamma ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of mucolipidosis III gamma: - Gene Review: Gene Review: Mucolipidosis III Gamma - Genetic Testing Registry: Mucolipidosis III Gamma - MedlinePlus Encyclopedia: Cloudy Cornea - MedlinePlus Encyclopedia: Heart Valves These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for familial hemiplegic migraine ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of familial hemiplegic migraine: - Gene Review: Gene Review: Familial Hemiplegic Migraine - Genetic Testing Registry: Familial hemiplegic migraine - Genetic Testing Registry: Familial hemiplegic migraine type 1 - Genetic Testing Registry: Familial hemiplegic migraine type 2 - Genetic Testing Registry: Familial hemiplegic migraine type 3 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Chondrocalcinosis 2 ?"}, {"role": "assistant", "content": "How might chondrocalcinosis 2 be treated? There is currently no cure for chondrocalcinosis 2. Unfortunately, the accumulation of calcium pyrophosphate dihydrate crystals can not be prevented and once present, these crystals can not be removed from affected joints. Therapies are available to manage the signs and symptoms of the condition. During episodes of joint pain, stiffness, and/or swelling, the following treatments may be recommended to relieve symptoms: joint aspiration (draining of fluid from the affected joint), corticosteroids injections, and/or nonsteroidal anti-inflammatory drugs (NSAIDS) such as aspirin or ibuprofen. Small doses of a medication called colchicine or NSAIDS are sometimes prescribed to people with frequent and severe attacks in an attempt to prevent future episodes; however, this therapy is not effective in all cases.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Primary Biliary Cirrhosis ?"}, {"role": "assistant", "content": "The first and most common symptoms of primary biliary cirrhosis are\n \n- fatigue, or feeling tired - itching skin, and darkened skin in itching areas due to scratching - dry eyes and mouth\n \nSome people may have jaundice, a condition that causes the skin and whites of the eyes to turn yellow. Health care providers diagnose up to 60 percent of people with primary biliary cirrhosis before symptoms begin.2 Routine blood tests showing abnormal liver enzyme levels may lead a health care provider to suspect that a person without symptoms has primary biliary cirrhosis.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Protein C deficiency ?"}, {"role": "assistant", "content": "How is protein C deficiency diagnosed? A diagnosis of protein C deficiency might be suspected in someone with a deep venous thrombosis (DVT) or a pulmonary embolism, especially if it occurs in a relatively young person (less than 50 years old) or has formed in an unusual location, such as the veins leading to the liver or kidney or the blood vessels of the brain. Laboratory tests are usually be done to look at the function or quantity of protein C in the blood. Functional tests are usually ordered, along with other tests for abnormal blood clotting, to screen for normal activity of protein C. Based on those results, concentrations of protein C may be measured to look for decreased production due to an acquired or inherited condition and to classify the type of deficiency. If the shortage of protein C is due to an inherited genetic change, the quantity of protein C available and the degree of activity can be used to help determine whether a person is heterozygous or homozygous for the mutation. Genetic testing is not necessary to make a diagnosis.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) tarsal-carpal coalition syndrome ?"}, {"role": "assistant", "content": "Tarsal-carpal coalition syndrome is a rare, inherited bone disorder that affects primarily the hands and feet. Several individual bones make up each wrist (carpal bones) and ankle (tarsal bones). In tarsal-carpal coalition syndrome, the carpal bones fuse together, as do the tarsal bones, which causes stiffness and immobility of the hands and feet. Symptoms of the condition can become apparent in infancy, and they worsen with age. The severity of the symptoms can vary, even among members of the same family. In this condition, fusion at the joints between the bones that make up each finger and toe (symphalangism) can also occur. Consequently, the fingers and toes become stiff and difficult to bend. Stiffness of the pinky fingers and toes (fifth digits) is usually noticeable first. The joints at the base of the pinky fingers and toes fuse first, and slowly, the other joints along the length of these digits may also be affected. Progressively, the bones in the fourth, third, and second digits (the ring finger, middle finger, and forefinger, and the corresponding toes) become fused. The thumb and big toe are usually not involved. Affected individuals have increasing trouble forming a fist, and walking often becomes painful and difficult. Occasionally, there is also fusion of bones in the upper and lower arm at the elbow joint (humeroradial fusion). Less common features of tarsal-carpal coalition syndrome include short stature or the development of hearing loss.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Caffey disease ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of Caffey disease: - Cedars-Sinai: Skeletal Dysplasia - Gene Review: Gene Review: Caffey Disease - Genetic Testing Registry: Infantile cortical hyperostosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Pediatric ulcerative colitis ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Pediatric ulcerative colitis? The Human Phenotype Ontology provides the following list of signs and symptoms for Pediatric ulcerative colitis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abdominal pain - Diarrhea - Growth delay - Heterogeneous - Intestinal obstruction - Multifactorial inheritance - Recurrent aphthous stomatitis - Ulcerative colitis - Weight loss - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Retinal vasculopathy with cerebral leukodystrophy ?"}, {"role": "assistant", "content": "Retinal vasculopathy with cerebral leukodystrophy (RVCL) is a rare, genetic condition that primarily affects the central nervous system. Symptoms begin in adulthood (usually in the 40s) and may include loss of vision, mini-strokes, and dementia. Death can sometimes occur within 10 years of the first symptoms appearing. RVCL is inherited in an autosomal dominant manner and is caused by mutations in the TREX1 gene. Treatments currently aim to manage or alleviate the symptoms rather than treating the underlying cause. RVCL is now considered to include the following 3 conditions which were previously thought to be distinct: hereditary endotheliopathy, retinopathy, nephropathy, and stroke (HERNS); cerebroretinal vasculopathy (CRV); and hereditary vascular retinopathy (HVR).", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Hydrocephalus, costovertebral dysplasia, and Sprengel anomaly ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Hydrocephalus, costovertebral dysplasia, and Sprengel anomaly? The Human Phenotype Ontology provides the following list of signs and symptoms for Hydrocephalus, costovertebral dysplasia, and Sprengel anomaly. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Hydrocephalus 90% Mandibular prognathia 90% Sprengel anomaly 90% Abnormal form of the vertebral bodies 50% Abnormality of dental enamel 50% Abnormality of the palate 50% Abnormality of the ribs 50% Anteverted nares 50% Behavioral abnormality 50% Brachydactyly syndrome 50% Cognitive impairment 50% Depressed nasal bridge 50% High forehead 50% Hypertelorism 50% Hypoplasia of the zygomatic bone 50% Low-set, posteriorly rotated ears 50% Macrocephaly 50% Melanocytic nevus 50% Obesity 50% Sandal gap 50% Scoliosis 50% Vertebral segmentation defect 50% Abnormality of the nipple 7.5% Myopia 7.5% Strabismus 7.5% Arachnoid cyst 5% Bulbous nose 5% Delayed gross motor development 5% Epicanthus 5% Hypoplasia of dental enamel 5% Intellectual disability 5% Low-set ears 5% Malar flattening 5% Wide nasal bridge 5% High palate - Kyphoscoliosis - Psychosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is X-linked agammaglobulinemia inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. About half of affected individuals do not have a family history of XLA. In most of these cases, the affected person's mother is a carrier of one altered BTK gene. Carriers do not have the immune system abnormalities associated with XLA, but they can pass the altered gene to their children. In other cases, the mother is not a carrier and the affected individual has a new mutation in the BTK gene.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Laryngomalacia ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Laryngomalacia? The Human Phenotype Ontology provides the following list of signs and symptoms for Laryngomalacia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the voice 90% Laryngomalacia 90% Cleft palate 50% Non-midline cleft lip 50% Abnormality of the trachea - Autosomal dominant inheritance - Congenital laryngeal stridor - Respiratory distress - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Do you have information about Mastectomy"}, {"role": "assistant", "content": "Summary : A mastectomy is surgery to remove a breast or part of a breast. It is usually done to treat breast cancer. Types of breast surgery include - Total (simple) mastectomy - removal of breast tissue and nipple - Modified radical mastectomy - removal of the breast, most of the lymph nodes under the arm, and often the lining over the chest muscles - Lumpectomy - surgery to remove the tumor and a small amount of normal tissue around it Which surgery you have depends on the stage of cancer, size of the tumor, size of the breast, and whether the lymph nodes are involved. Many women have breast reconstruction to rebuild the breast after a mastectomy. Sometimes mastectomy is done to prevent breast cancer. Only high-risk patients have this type of surgery. NIH: National Cancer Institute", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Polyembryoma ?"}, {"role": "assistant", "content": "Polyembryoma is a type of tumor that develops from the cells of the gonads (testes in men or ovaries in women). Such tumors are called germ cell tumors. Polyembryomas have a distinctive look because they are composed of many parts that are shaped like embryos, one of the earliest stages of a developing human during pregnancy. Symptoms of a polyembryoma may include an unusual bump or mass in the abdomen which can cause pain in some individuals; puberty at an unusually young age (known as precocious puberty); or irregularities in a female's menstruation. Treatment begins with surgery and may be followed by chemotherapy and/or radiation therapy. The cause of polyembryoma is not yet known.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Multiple endocrine neoplasia type 1 ?"}, {"role": "assistant", "content": "What causes multiple endocrine neoplasia, type 1? Multiple endocrine neoplasia, type 1 (MEN1) is caused by mutations in the MEN1 gene. MEN1 is a tumor suppressor gene which means that it encodes a protein that helps keep cells from growing and dividing too rapidly or in an uncontrolled way. Changes (mutations) in MEN1 result in a defective protein that is unable to carry out its normal role. This leads to the development of the many different types of tumors found in MEN1.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Low Vision ?"}, {"role": "assistant", "content": "Everyday Tasks Are Challenging Low vision means that even with regular glasses, contact lenses, medicine, or surgery, people find everyday tasks difficult to do. Reading the mail, shopping, cooking, seeing the TV, and writing can seem challenging. Millions of Americans lose some of their vision every year. Irreversible vision loss is most common among people over age 65. (Watch the video to learn more about low vision. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.) Not a Normal Part of Aging Losing vision is not just part of getting older. Some normal changes occur as we get older. However, these changes usually don't lead to low vision.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for tetrasomy 18p ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of tetrasomy 18p: - Chromosome 18 Clinical Research Center, University of Texas Health Science Center at San Antonio - Genetic Testing Registry: Chromosome 18, tetrasomy 18p These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Anxiety Disorders ?"}, {"role": "assistant", "content": "In panic disorder, a person has sudden, unexplained attacks of terror, and often feels his or her heart pounding. During a panic attack, a person feels a sense of unreality, a fear of impending doom, or a fear of losing control. Panic attacks can occur at any time. People with panic disorder may have - sudden and repeated attacks of fear - a feeling of being out of control during a panic attack - an intense worry about when the next attack will happen - a fear or avoidance of places where panic attacks have occurred in the past - physical symptoms during an attack, such as a pounding or racing heart, sweating, breathing problems, weakness or dizziness, feeling hot or a cold chill, tingly or numb hands, chest pain, or stomach pain. sudden and repeated attacks of fear a feeling of being out of control during a panic attack an intense worry about when the next attack will happen a fear or avoidance of places where panic attacks have occurred in the past physical symptoms during an attack, such as a pounding or racing heart, sweating, breathing problems, weakness or dizziness, feeling hot or a cold chill, tingly or numb hands, chest pain, or stomach pain. Learn more about panic disorder.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by ALG6-congenital disorder of glycosylation ?"}, {"role": "assistant", "content": "The prevalence of ALG6-CDG is unknown, but it is thought to be the second most common type of congenital disorder of glycosylation. More than 30 cases of ALG6-CDG have been described in the scientific literature.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Do you have information about Coronary Artery Bypass Surgery"}, {"role": "assistant", "content": "Summary : In coronary artery disease (CAD), the arteries that supply blood and oxygen to your heart muscle grow hardened and narrowed. You may try treatments such as lifestyle changes, medicines, and angioplasty, a procedure to open the arteries. If these treatments don't help, you may need coronary artery bypass surgery. The surgery creates a new path for blood to flow to the heart. The surgeon takes a healthy piece of vein from the leg or artery from the chest or wrist. Then the surgeon attaches it to the coronary artery, just above and below the narrowed area or blockage. This allows blood to bypass (get around) the blockage. Sometimes people need more than one bypass. The results of the surgery usually are excellent. Many people remain symptom-free for many years. You may need surgery again if blockages form in the grafted arteries or veins or in arteries that weren't blocked before. Lifestyle changes and medicines may help prevent arteries from becoming clogged again. NIH: National Heart, Lung, and Blood Institute", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to Mabry syndrome ?"}, {"role": "assistant", "content": "Mutations in the PIGV, PIGO, or PGAP2 gene cause Mabry syndrome. These genes are all involved in the production (synthesis) of a molecule called a glycosylphosphosphatidylinositol (GPI) anchor. This molecule is synthesized in a series of steps. It then attaches (binds) to various proteins and binds them to the outer surface of the cell membrane, ensuring that they are available when needed. Alkaline phosphatase is an example of a protein that is bound to the cell membrane by a GPI anchor. The proteins produced from the PIGV and PIGO genes are involved in piecing together the GPI anchor. After the complete GPI anchor is attached to a protein, the protein produced from the PGAP2 gene adjusts the anchor to enhance the anchor's ability to bind to the cell membrane. Mutations in the PIGV, PIGO, or PGAP2 gene result in the production of an incomplete GPI anchor that cannot attach to proteins or to cell membranes. Proteins lacking a functional GPI anchor cannot bind to the cell membrane and are instead released from the cell. The release of non-GPI anchored alkaline phosphatase elevates the amount of this protein in the blood, causing hyperphosphatasia in people with Mabry syndrome. It is unclear how gene mutations lead to the other features of Mabry syndrome, but these signs and symptoms are likely due to a lack of proper GPI anchoring of proteins. PIGV gene mutations are the most frequent cause of Mabry syndrome, accounting for approximately half of all cases. Mutations in the PIGO and PGAP2 genes are responsible for a small proportion of Mabry syndrome. The remaining affected individuals do not have an identified mutation in any of these three genes; the cause of the condition in these individuals is unknown.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Do you have information about Vasectomy"}, {"role": "assistant", "content": "Summary : Vasectomy is a type of surgery that prevents a man from being able to get a woman pregnant. It is a permanent form of birth control. Vasectomy works by blocking the tube through which sperm pass. The surgery usually takes no more than 30 minutes. Almost all men go home the same day. In most cases, recovery takes less than a week. Vasectomy can sometimes be reversed, but not always. Having a vasectomy does not protect against sexually transmitted diseases, such as HIV/AIDS. Men who have had vasectomy should still practice safe sex to avoid STDs. NIH: National Institute of Child Health and Human Development", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for sporadic hemiplegic migraine ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of sporadic hemiplegic migraine: - Genetic Testing Registry: Migraine, sporadic hemiplegic - Journal of the American Medical Association Patient Page: Migraine Headache These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by generalized arterial calcification of infancy ?"}, {"role": "assistant", "content": "The prevalence of GACI has been estimated to be about 1 in 391,000. At least 200 affected individuals have been described in the medical literature.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Who is at risk for Pernicious Anemia? ?"}, {"role": "assistant", "content": "Pernicious anemia is more common in people of Northern European and African descent than in other ethnic groups.\n \nOlder people also are at higher risk for the condition. This is mainly due to a lack of stomach acid and intrinsic factor, which prevents the small intestine from absorbing vitamin B12. As people grow older, they tend to make less stomach acid.\n \nPernicious anemia also can occur in younger people and other populations. You're at higher risk for pernicious anemia if you:\n \nHave a family history of the condition.\n \nHave had part or all of your stomach surgically removed. The stomach makes intrinsic factor. This protein helps your body absorb vitamin B12.\n \nHave an autoimmune disorder that involves the endocrine glands, such as Addison's disease, type 1 diabetes, Graves' disease, or vitiligo. Research suggests a link may exist between these autoimmune disorders and pernicious anemia that's caused by an autoimmune response.\n \nHave had part or all of your small intestine surgically removed. The small intestine is where vitamin B12 is absorbed.\n \nHave certain intestinal diseases or other disorders that may prevent your body from properly absorbing vitamin B12. Examples include Crohn's disease, intestinal infections, and HIV.\n \nTake medicines that prevent your body from properly absorbing vitamin B12. Examples of such medicines include antibiotics and certain seizure medicines.\n \nAre a strict vegetarian who doesn't eat any animal or dairy products and doesn't take a vitamin B12 supplement, or if you eat poorly overall.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for cleidocranial dysplasia ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of cleidocranial dysplasia: - Gene Review: Gene Review: Cleidocranial Dysplasia - Genetic Testing Registry: Cleidocranial dysostosis - MedlinePlus Encyclopedia: Cleidocranial dysostosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by metatropic dysplasia ?"}, {"role": "assistant", "content": "Metatropic dysplasia is a rare disease; its exact prevalence is unknown. More than 80 affected individuals have been reported in the scientific literature.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Deafness and myopia syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Deafness and myopia syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Deafness and myopia syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Conductive hearing impairment - Hematuria - Intellectual disability - Myopia - Proteinuria - Severe Myopia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Lennox-Gastaut Syndrome ?"}, {"role": "assistant", "content": "Lennox-Gastaut syndrome is a severe form of epilepsy. Seizures usually begin before 4 years of age. Seizure types, which vary among patients, include tonic (stiffening of the body, upward deviation of the eyes, dilation of the pupils, and altered respiratory patterns), atonic (brief loss of muscle tone and consciousness, causing abrupt falls), atypical absence (staring spells), and myoclonic (sudden muscle jerks). There may be periods of frequent seizures mixed with brief, relatively seizure-free periods. Most children with Lennox-Gastaut syndrome experience some degree of impaired intellectual functioning or information processing, along with developmental delays, and behavioral disturbances. Lennox-Gastaut syndrome can be caused by brain malformations, perinatal asphyxia, severe head injury, central nervous system infection and inherited degenerative or metabolic conditions. In 30-35 percent of cases, no cause can be found.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for frontotemporal dementia with parkinsonism-17 ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of FTDP-17: - Gene Review: Gene Review: MAPT-Related Disorders - Genetic Testing Registry: Frontotemporal dementia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for lymphangioleiomyomatosis ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of LAM: - Canadian Lung Association - Genetic Testing Registry: Lymphangiomyomatosis - Merck Manual for Healthcare Professionals - National Heart, Lung, and Blood Institute: How is LAM Diagnosed? - National Heart, Lung, and Blood Institute: How is LAM Treated? These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by beta-ureidopropionase deficiency ?"}, {"role": "assistant", "content": "The prevalence of beta-ureidopropionase deficiency is unknown. A small number of affected individuals from populations around the world have been described in the medical literature. In Japan, the prevalence of beta-ureidopropionase deficiency has been estimated as 1 in 6,000 people. Researchers suggest that in many affected individuals with absent or mild neurological problems, the condition may never be diagnosed.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Mntriers Disease ?"}, {"role": "assistant", "content": "Mntriers disease causes the ridges along the inside of the stomach wallcalled rugaeto enlarge, forming giant folds in the stomach lining. The rugae enlarge because of an overgrowth of mucous cells in the stomach wall.\n \nIn a normal stomach, mucous cells in the rugae release protein-containing mucus. The mucous cells in enlarged rugae release too much mucus, causing proteins to leak from the blood into the stomach. This shortage of protein in the blood is known as hypoproteinemia. Mntriers disease also reduces the number of acid-producing cells in the stomach, which decreases stomach acid.\n \nMntriers disease is also called Mntrier disease or hypoproteinemic hypertrophic gastropathy.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by primary ciliary dyskinesia ?"}, {"role": "assistant", "content": "Primary ciliary dyskinesia occurs in approximately 1 in 16,000 individuals.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to prevent Heart Failure ?"}, {"role": "assistant", "content": "You can take steps to prevent heart failure. The sooner you start, the better your chances of preventing or delaying the condition.\n \nFor People Who Have Healthy Hearts\n \nIf you have a healthy heart, you can take action to prevent heart disease and heart failure. To reduce your risk of heart disease:\n \nAvoid using illegal drugs.\n \nBe physically active. The more active you are, the more you will benefit.\n \nFollow a heart-healthy eating plan.\n \nIf yousmoke, make an effort to quit. Talk with your doctor about programs and products that can help you quit smoking. Also, try to avoid secondhand smoke.\n \nMaintain a healthy weight. Work with your health care team to create a reasonable weight-loss plan.\n \nFor People Who Are at High Risk for Heart Failure\n \nEven if youre at high risk for heart failure, you can take steps to reduce your risk. People at high risk include those who have coronary heart disease,high blood pressure, ordiabetes.\n \nFollow all of the steps listed above. Talk with your doctor about what types and amounts of physical activity are safe for you.\n \nTreat and control any conditions that can cause heart failure. Take medicines as your doctor prescribes.\n \nAvoid drinking alcohol.\n \nSee your doctor for ongoing care.\n \nFor People Who Have Heart Damage but No Signs of Heart Failure\n \nIf you have heart damage but no signs of heart failure, you can still reduce your risk of developing the condition. In addition to the steps above, take your medicines as prescribed to reduce your hearts workload.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Benign Essential Blepharospasm ?"}, {"role": "assistant", "content": "Benign essential blepharospasm (BEB) is a progressive neurological disorder characterized by involuntary muscle contractions and spasms of the eyelid muscles. It is a form of dystonia, a movement disorder in which muscle contractions cause sustained eyelid closure, twitching or repetitive movements. BEB begins gradually with increased frequency of eye blinking often associated with eye irritation. Other symptoms may include increasing difficulty in keeping the eyes open, and light sensitivity. Generally, the spasms occur during the day, disappear in sleep, and reappear after waking. As the condition progresses, the spasms may intensify, forcing the eyelids to remain closed for long periods of time, and thereby causing substantial visual disturbance or functional blindness. It is important to note that the blindness is caused solely by the uncontrollable closing of the eyelids and not by a dysfunction of the eyes. BEB occurs in both men and women, although it is especially common in middle-aged and elderly women.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to Jacobsen syndrome ?"}, {"role": "assistant", "content": "Jacobsen syndrome is caused by a deletion of genetic material at the end of the long (q) arm of chromosome 11. The size of the deletion varies among affected individuals, with most affected people missing 5 million to 16 million DNA building blocks (also written as 5 Mb to 16 Mb). In almost all affected people, the deletion includes the tip of chromosome 11. Larger deletions tend to cause more severe signs and symptoms than smaller deletions. The features of Jacobsen syndrome are likely related to the loss of multiple genes on chromosome 11. Depending on its size, the deleted region can contain from about 170 to more than 340 genes. Many of these genes have not been well characterized. However, genes in this region appear to be critical for the normal development of many parts of the body, including the brain, facial features, and heart. Only a few genes have been studied as possible contributors to the specific features of Jacobsen syndrome; researchers are working to determine which additional genes may be associated with this condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to hyperkalemic periodic paralysis ?"}, {"role": "assistant", "content": "Mutations in the SCN4A gene can cause hyperkalemic periodic paralysis. The SCN4A gene provides instructions for making a protein that plays an essential role in muscles used for movement (skeletal muscles). For the body to move normally, these muscles must tense (contract) and relax in a coordinated way. One of the changes that helps trigger muscle contractions is the flow of positively charged atoms (ions), including sodium, into muscle cells. The SCN4A protein forms channels that control the flow of sodium ions into these cells. Mutations in the SCN4A gene alter the usual structure and function of sodium channels. The altered channels stay open too long or do not stay closed long enough, allowing more sodium ions to flow into muscle cells. This increase in sodium ions triggers the release of potassium from muscle cells, which causes more sodium channels to open and stimulates the flow of even more sodium ions into these cells. These changes in ion transport reduce the ability of skeletal muscles to contract, leading to episodes of muscle weakness or paralysis. In 30 to 40 percent of cases, the cause of hyperkalemic periodic paralysis is unknown. Changes in other genes, which have not been identified, likely cause the disorder in these cases.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is aromatic l-amino acid decarboxylase deficiency inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Periventricular heterotopia ?"}, {"role": "assistant", "content": "Periventricular heterotopia is a condition in which the nerve cells (neurons) do not migrate properly during the early development of the fetal brain from about the 6th week to the 24th week of pregnancy. Affected people typically develop recurrent seizures (epilepsy) beginning in mid-adolescence. Intelligence is generally normal; however, some affected people may have mild intellectual disability, including difficulty with reading and/or spelling. Less common signs and symptoms include microcephaly, developmental delay, recurrent infections, and blood vessel abnormalities. Some cases are caused by changes (mutations) in the FLNA gene and are inherited in an X-linked dominant manner. Others are caused by mutations in the ARFGEF2 gene and are inherited in an autosomal recessive manner. Rarely, periventricular heterotopia is associated with duplication of genetic material on chromosome 5. Treatment is generally focused on managing recurrent seizures with medications.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for hereditary neuropathy with liability to pressure palsies ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of hereditary neuropathy with liability to pressure palsies: - Gene Review: Gene Review: Hereditary Neuropathy with Liability to Pressure Palsies - Genetic Testing Registry: Hereditary liability to pressure palsies - MedlinePlus Encyclopedia: carpal tunnel syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is erythrokeratodermia variabilis et progressiva inherited ?"}, {"role": "assistant", "content": "EKVP is most often inherited in an autosomal dominant pattern, which means one copy of an altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. Other cases result from new gene mutations and occur in people with no history of the disorder in their family. A few studies have suggested that EKVP can also have an autosomal recessive pattern of inheritance. However, this inheritance pattern has only been reported in a small number of affected families, and not all researchers agree that it is truly autosomal recessive. Autosomal recessive inheritance means both copies of a gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Brachial Plexus Injuries ?"}, {"role": "assistant", "content": "Some brachial plexus injuries may heal without treatment. Many children who are injured during birth improve or recover by 3 to 4 months of age. Treatment for brachial plexus injuries includes physical therapy and, in some cases, surgery.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is the outlook for Tay-Sachs Disease ?"}, {"role": "assistant", "content": "Even with the best of care, children with Tay-Sachs disease usually die by age 4, from recurring infection.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Pulmonary venous return anomaly ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Pulmonary venous return anomaly? The Human Phenotype Ontology provides the following list of signs and symptoms for Pulmonary venous return anomaly. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the cardiac septa 90% Anomalous pulmonary venous return 90% Respiratory insufficiency 7.5% Tapered distal phalanges of finger 5% Aplasia/Hypoplasia of the nails - Autosomal dominant inheritance - Pulmonary hypertension - Recurrent respiratory infections - Total anomalous pulmonary venous return - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for ring chromosome 20 syndrome ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of ring chromosome 20 syndrome: - Genetic Testing Registry: Ring chromosome 20 syndrome - MedlinePlus Encyclopedia: Chromosome - MedlinePlus Encyclopedia: Epilepsy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Epilepsy ?"}, {"role": "assistant", "content": "The epilepsies are a spectrum of brain disorders ranging from severe, life-threatening and disabling, to ones that are much more benign. In epilepsy, the normal pattern of neuronal activity becomes disturbed, causing strange sensations, emotions, and behavior or sometimes convulsions, muscle spasms, and loss of consciousness. The epilepsies have many possible causes and there are several types of seizures. Anything that disturbs the normal pattern of neuron activityfrom illness to brain damage to abnormal brain developmentcan lead to seizures. Epilepsy may develop because of an abnormality in brain wiring, an imbalance of nerve signaling chemicals called neurotransmitters, changes in important features of brain cells called channels, or some combination of these and other factors. Having a single seizure as the result of a high fever (called febrile seizure) or head injury does not necessarily mean that a person has epilepsy. Only when a person has had two or more seizures is he or she considered to have epilepsy. A measurement of electrical activity in the brain and brain scans such as magnetic resonance imaging or computed tomography are common diagnostic tests for epilepsy.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Do you have information about Water Safety (Recreational)"}, {"role": "assistant", "content": "Summary : Playing in the water - whether swimming, boating or diving - can be fun. It can also be dangerous, especially for children. Being safe can help prevent injuries and drowning. To stay safe in the water - Avoid alcohol when swimming or boating - Wear a life jacket whenever you're in a boat - Don't swim alone, or in bad weather - Learn CPR - Learn to swim and teach your children to swim - Supervise your children when they are in the water - Prevent sunburns - use plenty of sunscreen", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Hajdu-Cheney syndrome inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an autosomal dominant pattern, which means one copy of the altered NOTCH2 gene in each cell is sufficient to cause the disorder. Most cases result from new mutations in the gene and occur in people with no history of the disorder in their family. Less commonly, an affected person inherits the mutation from one affected parent.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by methemoglobinemia, beta-globin type ?"}, {"role": "assistant", "content": "The incidence of methemoglobinemia, beta-globin type is unknown.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Charcot-Marie-Tooth disease type 2F ?"}, {"role": "assistant", "content": "What causes Charcot-Marie-Tooth disease type 2F? Charcot-Marie-Tooth disease type 2F (CMT2F) is caused by mutations in the HSPB1 gene. This gene provides instructions for making a protein (heat shock protein beta-1) which helps protect cells under adverse conditions. Heat shock proteins appear to be involved in activities such as cell movement, stabilizing the cell's framework, folding and stabilizing new proteins, repairing damaged proteins, and muscle contraction. Heat shock protein beta-1 is particularly abundant in nerve and muscle cells. In nerve cells, it helps to organize a network of threads that maintain the diameter of axons (neurofilaments), which are needed to transmit nerve impulses efficiently. It is unclear exactly how HSPB1 mutations lead to the axon abnormalities characteristic of CMT2F. Researchers suggest that mutations lead to an altered protein which clusters together and interferes with nerve cell function. Another possibility is that the altered protein disrupts the assembly of neurofilaments, which in turn may impair the transmission of nerve impulses.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Neurosarcoidosis ?"}, {"role": "assistant", "content": "There is no agreed upon standard of treatment for neurosarcoidosis. Doctors generally recommend corticosteroid therapy as first-line therapy for individuals with the condition. Additional treatment with immunomodulatory drugs such as hydroxychloroquine, pentoxyfilline, thalidomide, and infliximab, and immunosuppressive drugs such as methotrexate, azathioprine, cyclosporin, and cyclophosphamide, have benefited some individuals. While the use of corticosteroids and other immunosuppressive drugs is effective, these medications also have undesirable side effects. Side effects and experience with certain drugs may play a role in medication choices.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) frontometaphyseal dysplasia ?"}, {"role": "assistant", "content": "Frontometaphyseal dysplasia is a disorder involving abnormalities in skeletal development and other health problems. It is a member of a group of related conditions called otopalatodigital spectrum disorders, which also includes otopalatodigital syndrome type 1, otopalatodigital syndrome type 2, and Melnick-Needles syndrome. In general, these disorders involve hearing loss caused by malformations in the tiny bones in the ears (ossicles), problems in the development of the roof of the mouth (palate), and skeletal abnormalities involving the fingers and/or toes (digits). Frontometaphyseal dysplasia is distinguished from the other otopalatodigital spectrum disorders by the presence of joint deformities called contractures that restrict the movement of certain joints. People with frontometaphyseal dysplasia may also have bowed limbs, an abnormal curvature of the spine (scoliosis), and abnormalities of the fingers and hands. Characteristic facial features may include prominent brow ridges; wide-set and downward-slanting eyes; a very small lower jaw and chin (micrognathia); and small, missing or misaligned teeth. Some affected individuals have hearing loss. In addition to skeletal abnormalities, individuals with frontometaphyseal dysplasia may have obstruction of the ducts between the kidneys and bladder (ureters), heart defects, or constrictions in the passages leading from the windpipe to the lungs (the bronchi) that can cause problems with breathing. Males with frontometaphyseal dysplasia generally have more severe signs and symptoms of the disorder than do females, who may show only the characteristic facial features.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is the outlook for Wilson Disease ?"}, {"role": "assistant", "content": "Early onset of the disease may foretell a worse prognosis than later onset. If the disorder is detected early and treated appropriately, an individual with WD can usually enjoy normal health and a normal lifespan. If not treated, however, WD can cause brain damage, liver failure, and death. The disease requires lifelong treatment.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to systemic lupus erythematosus ?"}, {"role": "assistant", "content": "Normal variations (polymorphisms) in many genes can affect the risk of developing SLE, and in most cases multiple genetic factors are thought to be involved. In rare cases, SLE is caused by mutations in single genes. Most of the genes associated with SLE are involved in immune system function, and variations in these genes likely affect proper targeting and control of the immune response. Sex hormones and a variety of environmental factors including viral infections, diet, stress, chemical exposures, and sunlight are also thought to play a role in triggering this complex disorder. About 10 percent of SLE cases are thought to be triggered by drug exposure, and more than 80 drugs that may be involved have been identified. In people with SLE, cells that have undergone self-destruction (apoptosis) because they are damaged or no longer needed are not cleared away properly. The relationship of this loss of function to the cause or features of SLE is unclear. Researchers suggest that these dead cells may release substances that cause the immune system to react inappropriately and attack the body's tissues, resulting in the signs and symptoms of SLE.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Oculoectodermal syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Oculoectodermal syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Oculoectodermal syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia of the corpus callosum 90% Aplasia/Hypoplasia of the skin 90% Epibulbar dermoid 90% Generalized hyperpigmentation 90% Abnormality of the cardiovascular system 50% Aganglionic megacolon 50% Anteverted nares 50% Blepharophimosis 50% Brachydactyly syndrome 50% Epicanthus 50% Hearing abnormality 50% Laryngeal atresia 50% Macrocephaly 50% Muscular hypotonia 50% Polyhydramnios 50% Proptosis 50% Short nose 50% Strabismus 50% Telecanthus 50% Abnormal facial shape 7.5% Cleft eyelid 7.5% Displacement of the external urethral meatus 7.5% Arachnoid cyst 5% Astigmatism 5% Depressed nasal bridge 5% Opacification of the corneal stroma 5% Parietal bossing 5% Wide nasal bridge 5% Anisometropia - Aplasia cutis congenita - Autosomal dominant inheritance - Bladder exstrophy - Coarctation of aorta - Epidermal nevus - Growth delay - Hyperactivity - Hyperpigmentation of the skin - Lower limb asymmetry - Lymphedema - Phenotypic variability - Seizures - Transient ischemic attack - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Cough ?"}, {"role": "assistant", "content": "The best way to treat a cough is to treat its cause. However, sometimes the cause is unknown. Other treatments, such as medicines and a vaporizer, can help relieve the cough itself.\n \nTreating the Cause of a Cough\n \nAcute and Subacute Cough\n \nAn acute cough lasts less than 3 weeks. Common causes of an acute cough are a common cold or other upper respiratory infections. Examples of other upper respiratory infections include the flu, pneumonia, and whooping cough. An acute cough usually goes away after the illness that caused it is over.\n \nA subacute cough lasts 3 to 8 weeks. This type of cough remains even after a cold or other respiratory infection is over.\n \nStudies show that antibiotics and cold medicines can't cure a cold. However, your doctor may prescribe medicines to treat another cause of an acute or subacute cough. For example, antibiotics may be given for pneumonia.\n \nChronic Cough\n \nA chronic cough lasts more than 8 weeks. Common causes of a chronic cough are upper airway cough syndrome (UACS), asthma, and gastroesophageal reflux disease (GERD).\n \n\"UACS\" is a term used to describe conditions that inflame the upper airways and cause a cough. Examples include sinus infections and allergies. These conditions can cause mucus (a slimy substance) to run down your throat from the back of your nose. This is called postnasal drip.\n \nIf you have a sinus infection, your doctor may prescribe antibiotics. He or she also may suggest you use a medicine that you spray into your nose. If allergies are causing your cough, your doctor may advise you to avoid the substances that you're allergic to (allergens) if possible.\n \nIf you have asthma, try to avoid irritants and allergens that make your asthma worse. Take your asthma medicines as your doctor prescribes.\n \nGERD occurs if acid from your stomach backs up into your throat. Your doctor may prescribe a medicine to reduce acid in your stomach. You also may be able to relieve GERD symptoms by waiting 3 to 4 hours after a meal before lying down, and by sleeping with your head raised.\n \nSmoking also can cause a chronic cough. If you smoke, it's important to quit. Talk with your doctor about programs and products that can help you quit smoking. Also, try to avoid secondhand smoke.\n \nMany hospitals have programs that help people quit smoking, or hospital staff can refer you to a program. The Health Topics Smoking and Your Heart article and the National Heart, Lung, and Blood Institute's \"Your Guide to a Healthy Heart\" booklet have more information about how to quit smoking.\n \nOther causes of a chronic cough include respiratory infections, chronic bronchitis, bronchiectasis, lung cancer, and heart failure. Treatments for these causes may include medicines, procedures, and other therapies. Treatment also may include avoiding irritants and allergens and quitting smoking.\n \nIf your chronic cough is due to a medicine you're taking, your doctor may prescribe a different medicine.\n \nTreating the Cough Rather Than the Cause\n \nCoughing is important because it helps clear your airways of irritants, such as smoke and mucus (a slimy substance). Coughing also helps prevent infections.\n \nCough medicines usually are used only when the cause of the cough is unknown and the cough causes a lot of discomfort.\n \nMedicines can help control a cough and make it easier to cough up mucus. Your doctor may recommend medicines such as:\n \nPrescription cough suppressants, also called antitussives. These medicines can help relieve a cough. However, they're usually used when nothing else works. No evidence shows that over-the-counter cough suppressants relieve a cough.\n \nExpectorants. These medicines may loosen mucus, making it easier to cough up.\n \nBronchodilators. These medicines relax your airways.\n \nOther treatments also may relieve an irritated throat and loosen mucus. Examples include using a cool-mist humidifier or steam vaporizer and drinking enough fluids. Examples of fluids are water, soup, and juice. Ask your doctor how much fluid you need.\n \nCough in Children\n \nNo evidence shows that cough and cold medicines help children recover more quickly from colds. These medicines can even harm children. Talk with your child's doctor about your child's cough and how to treat it.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Who is at risk for Hypersensitivity Pneumonitis? ?"}, {"role": "assistant", "content": "People who repeatedly breathe in foreign substances are at risk for hypersensitivity pneumonitis (HP). These substances, which also are known as antigens, include molds, dusts, and chemicals. However, most people who breathe in these substances don't develop HP.\n \nPeople at increased risk include:\n \nFarm and dairy cattle workers\n \nPeople who use hot tubs often\n \nPeople who are exposed to molds or dusts from humidifiers, heating systems, or wet carpeting\n \nBird fanciers (people who keep pet birds) and poultry handlers\n \nFlorists and landscapers, especially those who use liquid chemicals on lawns and gardens\n \nPeople who work in grain and flour processing and loading\n \nLumber milling, construction, wood stripping, and paper and wallboard workers\n \nPeople who make plastics or electronics, and those who paint or work with other chemicals", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Emery-Dreifuss muscular dystrophy inherited ?"}, {"role": "assistant", "content": "Emery-Dreifuss muscular dystrophy can have several different patterns of inheritance. When this condition is caused by mutations in the EMD gene, it is inherited in an X-linked recessive pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. Males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. In females (who have two X chromosomes), a mutation typically must be present in both copies of the EMD gene to cause X-linked Emery-Dreifuss muscular dystrophy. Females who carry one altered copy of the EMD gene usually do not experience the muscle weakness and wasting that are characteristic of this condition. In some cases, however, they may experience heart problems associated with this disorder. Other cases of Emery-Dreifuss muscular dystrophy result from mutations in the LMNA gene and are considered to have an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means one copy of the altered gene in each cell is sufficient to cause the disorder. About 75 percent of autosomal dominant Emery-Dreifuss muscular dystrophy cases are caused by new mutations in the LMNA gene and occur in people with no history of the disorder in their family. In the remaining cases, people with this form of the condition inherit the altered LMNA gene from an affected parent. Rarely, LMNA gene mutations can cause a form of Emery-Dreifuss muscular dystrophy that is inherited in an autosomal recessive pattern. Autosomal recessive inheritance means two copies of the gene in each cell are altered. Most often, the parents of an individual with an autosomal recessive disorder are carriers of one copy of the altered gene but do not show signs and symptoms of the disorder.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Wolffian tumor ?"}, {"role": "assistant", "content": "Wolffian tumors are rare tumors located anywhere along the length between the ovary and vagina in sites of remnant wolffian ducts. Wolffian ducts are structures in a developing embryo that get incorporated into the reproductive system in males and degenerate in females. Wolffian tumors are thought to have a low potential to become cancerous and tend to range from 0.8 to 25 centimeters in size. Surgery is the recommended treatment. In a small number of cases, recurrences or malignancy have been been reported. Close follow-up is advised.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) branchio-oculo-facial syndrome ?"}, {"role": "assistant", "content": "Branchio-oculo-facial syndrome is a condition that affects development before birth, particularly of structures in the face and neck. Its characteristic features include skin anomalies on the neck, malformations of the eyes and ears, and distinctive facial features. \"Branchio-\" refers to the branchial arches, which are structures in the developing embryo that give rise to tissues in the face and neck. In people with branchio-oculo-facial syndrome, the first and second branchial arches do not develop properly, leading to abnormal patches of skin, typically on the neck or near the ears. These patches can be unusually thin, hairy, or red and densely packed with blood vessels (hemangiomatous). In a small number of individuals, tissue from a gland called the thymus is abnormally located on the skin of the neck (dermal thymus). Problems with branchial arch development underlie many of the other features of branchio-oculo-facial syndrome. \"Oculo-\" refers to the eyes. Many people with branchio-oculo-facial syndrome have malformations of the eyes that can lead to vision impairment. These abnormalities include unusually small eyeballs (microphthalmia), no eyeballs (anophthalmia), a gap or split in structures that make up the eyes (coloboma), or blockage of the tear ducts (nasolacrimal duct stenosis). Problems with development of the face lead to distinctive facial features in people with branchio-oculo-facial syndrome. Many affected individuals have a split in the upper lip (cleft lip) or a pointed upper lip that resembles a poorly repaired cleft lip (often called a pseudocleft lip) with or without an opening in the roof of the mouth (cleft palate). Other facial characteristics include widely spaced eyes (hypertelorism), an increased distance between the inner corners of the eyes (telecanthus), outside corners of the eyes that point upward (upslanting palpebral fissures), a broad nose with a flattened tip, and weakness of the muscles in the lower face. The ears are also commonly affected, resulting in malformed or prominent ears. Abnormalities of the inner ear or of the tiny bones in the ears (ossicles) can cause hearing loss in people with this condition. Branchio-oculo-facial syndrome can affect other structures and tissues as well. Some affected individuals have kidney abnormalities, such as malformed kidneys or multiple kidney cysts. Nail and teeth abnormalities also occur, and some people with this condition have prematurely graying hair.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Triple A syndrome ?"}, {"role": "assistant", "content": "Triple A syndrome is an inherited condition characterized by three specific features: achalasia, Addison disease, and alacrima (a reduced or absent ability to secrete tears). Most people with triple A syndrome have all three of these features, although some have only two. Several authors published descriptions of a more global autonomic disturbance associated with the original three characteristics, leading one author to suggest the name 4A syndrome (adrenal insufficiency, achalasia, alacrima, autonomic abnormalities). Specific autonomic disturbances described in this syndrome include abnormal pupillary reflexes, poor heart rate variability, and orthostatic hypotension. Affected individuals may also have developmental delay, intellectual disability, speech problems, a small head size, muscle weakness, movement problems, peripheral neuropathy, and optic atrophy. Many of the neurological symptoms of triple A syndrome worsen over time. Triple A syndrome is caused by mutations in the AAAS gene and is inherited in an autosomal recessive pattern. Alacrimia is treated with artificial tears while achalasia may need surgery with either pneumatic dilatation or Heller's myotomy. Adrenal insufficiency is treated with glucocorticoid and if necessary mineralocorticoid replacement.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Thalassemia ?"}, {"role": "assistant", "content": "Thalassemia is an inherited blood disorder that reduces the production of functional hemoglobin (the protein in red blood cells that carries oxygen). This causes a shortage of red blood cells and low levels of oxygen in the bloodstream, leading to a variety of health problems. There are two main types of thalassemia, alpha thalassemia and beta thalassemia. Signs and symptoms vary but may include mild to severe anemia, paleness, fatigue, yellow discoloration of skin (jaundice), and bone problems. Beta thalassemia is caused by changes (mutations) in the HBB gene while alpha thalassemia is caused by mutations in the HBA1 and/or HBA2 genes. Both are inherited in an autosomal recessive manner. Treatment depends on the type and severity of the condition but may include blood transfusions and/or folic acid supplements.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Lung Cancer ?"}, {"role": "assistant", "content": "Researchers are working to develop drugs called \"molecularly targeted agents\" which kill cancer cells by targeting key molecules involved in cancer cell growth.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Spastic paraplegia 51 ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Spastic paraplegia 51? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia 51. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Babinski sign - Bulbous nose - Cerebellar atrophy - Cerebral cortical atrophy - Coarse facial features - Congenital onset - Decreased muscle mass - Drooling - Facial hypotonia - Flexion contracture - Hyperreflexia - Intellectual disability, severe - Long nose - Microcephaly - Narrow face - Narrow forehead - Neonatal hypotonia - Nystagmus - Pointed chin - Prominent antihelix - Seizures - Short philtrum - Short stature - Spastic paraplegia - Spastic tetraplegia - Talipes equinovarus - Ventriculomegaly - Wide mouth - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) X-linked creatine deficiency ?"}, {"role": "assistant", "content": "X-linked creatine deficiency is a rare condition that primarily affects the brain. Signs and symptoms generally develop before age 2 and may include mild to severe intellectual disability; delayed speech development, behavioral problems (i.e. autistic features, hyperactivity), and seizures. Less commonly, affected people may have distinctive facial features, heart abnormalities, and gastrointestinal disorders. X-linked creatine deficiency is caused by changes (mutations) in the SLC6A8 gene and is inherited in an X-linked manner. Treatment with high doses of creatine monohydrate, L-arginine, and L-glycine has been used to treat some of the symptoms associated with X-linked creatine deficiency with variable success.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for N-acetylglutamate synthase deficiency ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of N-acetylglutamate synthase deficiency: - Gene Review: Gene Review: Urea Cycle Disorders Overview - Genetic Testing Registry: Hyperammonemia, type III - MedlinePlus Encyclopedia: Hereditary Urea Cycle Abnormality These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by Pallister-Hall syndrome ?"}, {"role": "assistant", "content": "This condition is very rare; its prevalence is unknown.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Situs inversus ?"}, {"role": "assistant", "content": "How might situs inversus be treated? In isolated situs inversus, no treatment may be necessary. When situs inversus is associated with another condition, treatment may depend on the associated condition and the signs and symptoms present in the affected person. Knowing that a person has situs inversus is important for diagnosing medical problems and preventing surgical mishaps that can result from the failure to recognize reversed anatomy. For example, in a person with situs inversus, appendicitis causes pain in the left lower abdomen instead of the right lower abdomen. Wearing medical identification can help ensure proper treatment in an emergency medical situation.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Hairy tongue ?"}, {"role": "assistant", "content": "What causes hairy tongue? The exact cause is unknown; however, smoking, alcohol, dehydration, use of antibiotics, low saliva production, trigeminal neuralgia, poor oral hygiene and cranial radiation therapy have shown to bring about hairy tongue.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Dopa-responsive dystonia ?"}, {"role": "assistant", "content": "How is dopa-responsive dystonia diagnosed? Dopa-responsive dystonia (DRD) is diagnosed based on the signs and symptoms present, results of laboratory tests (sometimes including genetic testing), and response to therapy with levodopa. If DRD is suspected, a therapeutic trial with low doses of levodopa remains the most practical approach to the diagnosis. It is generally agreed that people with childhood-onset dystonia of unknown cause should be treated initially with levodopa. The characteristic symptoms and response to treatment are sufficient to establish the diagnosis for people with the most common form, autosomal dominant DRD. There is only one gene in which mutations are known to cause this form of DRD, but not all people with the disorder are found to have a mutation in the responsible gene. While finding a mutation may provide information about prognosis, it does not alter the treatment. Other types of laboratory tests, such as measuring specific substances or enzymes in the blood or cerebrospinal fluid (CSF), may be useful to support the diagnosis. For tyrosine hydroxylase deficiency, an autosomal recessive genetic cause of DRD, molecular genetic testing has confirmed the presence of mutations in all affected people to date. Specific laboratory tests performed on CSF help support the diagnosis but are not diagnostic on their own. For sepiapterin reductase deficiency, a very rare autosomal recessive form of DRD, there are distinctive findings in CSF and reduced or absent activity of sepiapterin reductase in fibroblasts. Molecular genetic testing can identify mutations in the responsible gene and confirm the diagnosis of this form of DRD. The major conditions that may have a similar presentation to DRD and are part of the differential diagnosis include early-onset parkinsonism, early-onset primary dystonia, and cerebral palsy or spastic paraplegia. People with specific questions about being evaluated for any form of dystonia should speak with a neurologist or other health care provider.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome ?"}, {"role": "assistant", "content": "Mutations in the FOXP3 gene cause some cases of IPEX syndrome. The protein produced from this gene is a transcription factor, which means that it attaches (binds) to specific regions of DNA and helps control the activity of particular genes. This protein is essential for the production and normal function of certain immune cells called regulatory T cells. Regulatory T cells play an important role in controlling the immune system and preventing autoimmune disorders. Mutations in the FOXP3 gene lead to reduced numbers or a complete absence of regulatory T cells. Without the proper number of regulatory T cells, the body cannot control immune responses. Normal body tissues and organs are attacked, causing the multiple autoimmune disorders present in people with IPEX syndrome. About half of individuals diagnosed with IPEX syndrome do not have identified mutations in the FOXP3 gene. In these cases, the cause of the disorder is unknown.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) spinal and bulbar muscular atrophy ?"}, {"role": "assistant", "content": "Spinal and bulbar muscular atrophy, also known as Kennedy disease, is a disorder of specialized nerve cells that control muscle movement (motor neurons). These nerve cells originate in the spinal cord and the part of the brain that is connected to the spinal cord (the brainstem). Spinal and bulbar muscular atrophy mainly affects males and is characterized by muscle weakness and wasting (atrophy) that usually begins in adulthood and worsens slowly over time. Muscle wasting in the arms and legs results in cramping; leg muscle weakness can also lead to difficulty walking and a tendency to fall. Certain muscles in the face and throat (bulbar muscles) are also affected, which causes progressive problems with swallowing and speech. Additionally, muscle twitches (fasciculations) are common. Some males with the disorder experience unusual breast development (gynecomastia) and may be unable to father a child (infertile).", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is 2q37 deletion syndrome inherited ?"}, {"role": "assistant", "content": "Most cases of 2q37 deletion syndrome are not inherited. They result from a chromosomal deletion that occurs as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. Affected people typically have no history of the disorder in their family. Rarely, affected individuals inherit a copy of chromosome 2 with a deleted segment from an unaffected parent. In these cases, one of the parents carries a chromosomal rearrangement between chromosome 2 and another chromosome. This rearrangement is called a balanced translocation. No genetic material is gained or lost in a balanced translocation, so these chromosomal changes usually do not cause any health problems. However, translocations can become unbalanced as they are passed to the next generation. Children who inherit an unbalanced translocation can have a chromosomal rearrangement with extra or missing genetic material. Some individuals with 2q37 deletion syndrome inherit an unbalanced translocation that deletes genetic material near the end of the long arm of chromosome 2, which results in birth defects and other health problems characteristic of this disorder.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to globozoospermia ?"}, {"role": "assistant", "content": "Globozoospermia is most commonly caused by mutations in the DPY19L2 gene, which are found in about 70 percent of men with this condition. Mutations in other genes likely also cause globozoospermia. The DPY19L2 gene provides instructions for making a protein that is found in developing sperm cells. The DPY19L2 protein is involved in the development of the acrosome and elongation of the sperm head, which are integral steps in sperm cell maturation. Mutations in the DPY19L2 gene result in a loss of functional DPY19L2 protein. As a result, sperm cells have no acrosome and do not elongate properly. Without an acrosome, the abnormal sperm are unable to get through the outer membrane of an egg cell to fertilize it, leading to infertility in affected men. Researchers have described other characteristics of the abnormal sperm cells that make fertilization of an egg cell difficult, although it is not clear how changes in the DPY19L2 gene are involved in development of these characteristics.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Osteomesopyknosis ?"}, {"role": "assistant", "content": "Osteomesopyknosis is a bone disorder characterized by abnormal hardening of bone (osteosclerosis). It is generally limited to the axial spine, pelvis, and proximal part of the long bones, which is what distinguishes this condition from other sclerosing bone disorders. It is usually diagnosed incidentally in young adults complaining of back pain. Osteomesopyknosis is inherited in an autosomal dominant manner but the genetic cause has not yet been identified. It is generally benign and life expectancy is normal.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Hyperthyroidism ?"}, {"role": "assistant", "content": "Your thyroid is a butterfly-shaped gland in your neck, just above your collarbone. It is one of your endocrine glands, which make hormones. Thyroid hormones control the rate of many activities in your body. These include how fast you burn calories and how fast your heart beats. All of these activities are your body's metabolism. If your thyroid is too active, it makes more thyroid hormones than your body needs. This is called hyperthyroidism. Hyperthyroidism is more common in women, people with other thyroid problems, and those over 60 years old. Grave's disease, an autoimmune disorder, is the most common cause. Other causes include thyroid nodules, thyroiditis, consuming too much iodine, and taking too much synthetic thyroid hormone. The symptoms can vary from person to person. They may include - Being nervous or irritable - Mood swings - Fatigue or muscle weakness - Heat intolerance - Trouble sleeping - Hand tremors - Rapid and irregular heartbeat - Frequent bowel movements or diarrhea - Weight loss - Goiter, which is an enlarged thyroid that may cause the neck to look swollen To diagnose hyperthyroidism, your doctor will look at your symptoms, blood tests, and sometimes a thyroid scan. Treatment is with medicines, radioiodine therapy, or thyroid surgery. No single treatment works for everyone. NIH: National Institute of Diabetes and Digestive and Kidney Diseases", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Hyperplasia of midface 16/16 Hypertelorism 16/16 Large forehead 16/16 Long face 16/16 Muscular hypotonia 16/16 Polyhydramnios 16/16 Thick lower lip vermilion 16/16 Thick upper lip vermilion 16/16 Wide mouth 16/16 Wide nasal bridge 16/16 Macrocephaly 15/16 Premature birth 15/16 Atria septal defect 4/16 Diabetes insipidus 2/16 Nephrocalcinosis 2/16 Autosomal recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes ?"}, {"role": "assistant", "content": "The exact incidence of MELAS is unknown. It is one of the more common conditions in a group known as mitochondrial diseases. Together, mitochondrial diseases occur in about 1 in 4,000 people.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for androgen insensitivity syndrome ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of androgen insensitivity syndrome: - Gene Review: Gene Review: Androgen Insensitivity Syndrome - Genetic Testing Registry: Androgen resistance syndrome - MedlinePlus Encyclopedia: Androgen Insensitivity Syndrome - MedlinePlus Encyclopedia: Intersex - MedlinePlus Encyclopedia: Reifenstein Syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is ZAP70-related severe combined immunodeficiency inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Alopecia universalis ?"}, {"role": "assistant", "content": "How is alopecia universalis diagnosed? A diagnosis of alopecia universalis is usually based on the signs and symptoms present in each person. In rare cases, a scalp biopsy may be needed to confirm the diagnosis.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) focal dermal hypoplasia ?"}, {"role": "assistant", "content": "Focal dermal hypoplasia is a genetic disorder that primarily affects the skin, skeleton, eyes, and face. About 90 percent of affected individuals are female. Males usually have milder signs and symptoms than females. Although intelligence is typically unaffected, some individuals have intellectual disability. People with focal dermal hypoplasia have skin abnormalities present from birth, such as streaks of very thin skin (dermal hypoplasia), yellowish-pink nodules of fat under the skin, areas where the top layers of skin are absent (cutis aplasia), small clusters of veins on the surface of the skin (telangiectases), and streaks of slightly darker or lighter skin. These skin changes may cause pain, itching, irritation, or lead to skin infections. Wart-like growths called papillomas are usually not present at birth but develop with age. Papillomas typically form around the nostrils, lips, anus, and female genitalia. They may also be present in the throat, specifically in the esophagus or larynx, and can cause problems with swallowing, breathing, or sleeping. Papillomas can usually be surgically removed if necessary. Affected individuals may have small, ridged fingernails and toenails. Hair on the scalp can be sparse and brittle or absent. Many individuals with focal dermal hypoplasia have hand and foot abnormalities, including missing fingers or toes (oligodactyly), webbed or fused fingers or toes (syndactyly), and a deep split in the hands or feet with missing fingers or toes and fusion of the remaining digits (ectrodactyly). X-rays can show streaks of altered bone density, called osteopathia striata, that do not cause any symptoms in people with focal dermal hypoplasia. Eye abnormalities are common in individuals with focal dermal hypoplasia, including small eyes (microphthalmia), absent or severely underdeveloped eyes (anophthalmia), and problems with the tear ducts. Affected individuals may also have incomplete development of the light-sensitive tissue at the back of the eye (retina) or the nerve that relays visual information from the eye to the brain (optic nerve). This abnormal development of the retina and optic nerve can result in a gap or split in these structures, which is called a coloboma. Some of these eye abnormalities do not impair vision, while others can lead to low vision or blindness. People with focal dermal hypoplasia may have distinctive facial features. Affected individuals often have a pointed chin, small ears, notched nostrils, and a slight difference in the size and shape of the right and left sides of the face (facial asymmetry). These facial characteristics are typically very subtle. An opening in the lip (cleft lip) with or without an opening in the roof of the mouth (cleft palate) may also be present. About half of individuals with focal dermal hypoplasia have abnormalities of their teeth, especially the hard, white material that forms the protective outer layer of each tooth (enamel). Less commonly, abnormalities of the kidneys and gastrointestinal system are present. The kidneys may be fused together, which predisposes affected individuals to kidney infections but does not typically cause significant health problems. The main gastrointestinal abnormality that occurs in people with focal dermal hypoplasia is an omphalocele, which is an opening in the wall of the abdomen that allows the abdominal organs to protrude through the navel. The signs and symptoms of focal dermal hypoplasia vary widely, although almost all affected individuals have skin abnormalities.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Urine Blockage in Newborns ?"}, {"role": "assistant", "content": "Treatment for urine blockage depends on the cause and severity of the blockage. Hydronephrosis discovered before the baby is born rarely requires immediate action, especially if it is only on one side. The condition often goes away without any treatment before or after birth. The health care provider should keep track of the condition with frequent ultrasounds.\n \nSurgery\n \nIf the urine blockage threatens the life of the unborn baby, a fetal surgeon may recommend surgery to insert a shunt or correct the problem causing the blockage. A shunt is a small tube that can be inserted into the babys bladder to release urine into the amniotic sac. The procedure is similar to amniocentesis, in that a needle is inserted through the mothers abdomen. Ultrasound guides placement of the shunt, which is attached to the end of the needle. Alternatively, an endoscopea small, flexible tube with a lightcan be used to place a shunt or to repair the problem causing the blockage. Fetal surgery carries many risks, so it is performed only in special circumstances, such as when the amniotic fluid is absent and the babys lungs are not developing or when the kidneys are severely damaged.\n \nIf the urinary defect does not correct itself after the child is born, and the child continues to have urine blockage, surgery may be needed to remove the obstruction and restore urine flow. The decision to operate depends on the degree of blockage. After surgery, a small tube, called a stent, may be placed in the ureter or urethra to keep it open temporarily while healing occurs.\n \nAntibiotics\n \nAntibiotics are bacteria-fighting medications. A child with possible urine blockage or VUR may be given antibiotics to prevent UTIs from developing until the urinary defect corrects itself or is corrected with surgery.\n \nIntermittent Catheterization\n \nIntermittent catheterization may be used for a child with urinary retention due to a nerve disease. The parent or guardian, and later the child, is taught to drain the bladder by inserting a thin tube, called a catheter, through the urethra to the bladder. Emptying the bladder in this way helps to decrease kidney damage, urine leakage, and UTIs.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Medicare and Continuing Care ?"}, {"role": "assistant", "content": "Some people think that Medicare and Medicaid are the same. Actually, they are two different programs. Medicaid is a state-run program that provides hospital and medical coverage for people with low income and little or no resources. Each state has its own rules about who is eligible and what is covered under Medicaid. Some people qualify for both Medicare and Medicaid. If you have questions about Medicaid, you can call your State Medical Assistance (Medicaid) office for more information. Visit http://www.medicare.gov on the web. (Under \"Search Tools,\" select \"Find Helpful Phone Numbers and Websites.\") Or, call 1-800-Medicare (1-800-633-4227) to get the telephone number. TTY users should call 1-877-486-2048.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to congenital central hypoventilation syndrome ?"}, {"role": "assistant", "content": "Mutations in the PHOX2B gene cause CCHS. The PHOX2B gene provides instructions for making a protein that acts early in development to help promote the formation of nerve cells (neurons) and regulate the process by which the neurons mature to carry out specific functions (differentiation). The protein is active in the neural crest, which is a group of cells in the early embryo that give rise to many tissues and organs. Neural crest cells migrate to form parts of the autonomic nervous system, many tissues in the face and skull, and other tissue and cell types. Mutations are believed to interfere with the PHOX2B protein's role in promoting neuron formation and differentiation, especially in the autonomic nervous system, resulting in the problems regulating breathing and other body functions that occur in CCHS.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Metastatic Squamous Neck Cancer with Occult Primary ?"}, {"role": "assistant", "content": "Key Points\n - Metastatic squamous neck cancer with occult primary is a disease in which squamous cell cancer spreads to lymph nodes in the neck and it is not known where the cancer first formed in the body. - Signs and symptoms of metastatic squamous neck cancer with occult primary include a lump or pain in the neck or throat. - Tests that examine the tissues of the neck, respiratory tract, and upper part of the digestive tract are used to detect (find) and diagnose metastatic squamous neck cancer and the primary tumor. - Certain factors affect prognosis (chance of recovery) and treatment options.\n \n \n Metastatic squamous neck cancer with occult primary is a disease in which squamous cell cancer spreads to lymph nodes in the neck and it is not known where the cancer first formed in the body.\n Squamous cells are thin, flat cells found in tissues that form the surface of the skin and the lining of body cavities such as the mouth, hollow organs such as the uterus and blood vessels, and the lining of the respiratory (breathing) and digestive tracts. Some organs with squamous cells are the esophagus, lungs, kidneys, and uterus. Cancer can begin in squamous cells anywhere in the body and metastasize (spread) through the blood or lymph system to other parts of the body. When squamous cell cancer spreads to lymph nodes in the neck or around the collarbone, it is called metastatic squamous neck cancer. The doctor will try to find the primary tumor (the cancer that first formed in the body), because treatment for metastatic cancer is the same as treatment for the primary tumor. For example, when lung cancer spreads to the neck, the cancer cells in the neck are lung cancer cells and they are treated the same as the cancer in the lung. Sometimes doctors cannot find where in the body the cancer first began to grow. When tests cannot find a primary tumor, it is called an occult (hidden) primary tumor. In many cases, the primary tumor is never found.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes High Blood Pressure ?"}, {"role": "assistant", "content": "Changes, either fromgenesor the environment, in the bodys normal functions may cause high blood pressure, including changes to kidney fluid and salt balances, therenin-angiotensin-aldosterone system,sympathetic nervous systemactivity, and blood vessel structure and function.\n \nBiology and High Blood Pressure\n \nResearchers continue to study how various changes in normal body functions cause high blood pressure. The key functions affected in high blood pressure include:\n \nKidney fluid and salt balances\n \nRenin-angiotensin-aldosterone system\n \nSympathetic nervous system activity\n \nBlood vessel structure and function\n \n\n \nKidney Fluid and Salt Balances\n \nThe kidneys normally regulate the bodys salt balance by retaining sodium and water and excreting potassium. Imbalances in this kidney function can expand blood volumes, which can cause high blood pressure.\n \n\n \nRenin-Angiotensin-Aldosterone System\n \nThe renin-angiotensin-aldosterone system makes angiotensin and aldosterone hormones. Angiotensin narrows or constricts blood vessels, which can lead to an increase in blood pressure. Aldosterone controls how the kidneys balance fluid and salt levels. Increased aldosterone levels or activity may change this kidney function, leading to increased blood volumes and high blood pressure.\n \n\n \nSympathetic Nervous System Activity\n \nThe sympathetic nervous system has important functions in blood pressure regulation, including heart rate, blood pressure, and breathing rate. Researchers are investigating whether imbalances in this system cause high blood pressure.\n \n\n \nBlood Vessel Structure and Function\n \nChanges in the structure and function of small and large arteries may contribute to high blood pressure. The angiotensin pathway and the immune system may stiffen small and large arteries, which can affect blood pressure.\n \n\n \nGenetic Causes of High Blood Pressure\n \nMuch of the understanding of the body systems involved in high blood pressure has come from genetic studies. High blood pressure often runs in families. Years of research have identified many genes and other mutations associated with high blood pressure, some in the renal salt regulatory and renin-angiotensin-aldosterone pathways. However, these known genetic factors only account for 2 to 3percent of all cases. Emerging research suggests that certain DNA changes during fetal development also may cause the development of high blood pressure later in life.\n \nEnvironmental Causes of High Blood Pressure\n \nEnvironmental causes of high blood pressure include unhealthy lifestyle habits, being overweight or obese, and medicines.\n \n\n \nUnhealthy Lifestyle Habits\n \nUnhealthy lifestyle habits can cause high blood pressure, including:\n \nHigh dietary sodium intake and sodium sensitivity\n \nDrinking excess amounts of alcohol\n \nLack of physical activity\n \n\n \nOverweight and Obesity\n \nResearch studies show that being overweight or obese can increase the resistance in the blood vessels, causing the heart to work harder and leading to high blood pressure.\n \n\n \nMedicines\n \nPrescription medicines such as asthma or hormone therapies, including birth control pills and estrogen, and over-the-counter medicines such as cold relief medicines may cause this form of high blood pressure. This happens because medicines can change the way your body controls fluid and salt balances, cause your blood vessels to constrict, or impact the renin-angiotensin-aldosterone system leading to high blood pressure.\n \nOther Medical Causes of High Blood Pressure\n \nOther medical causes of high blood pressure include other medical conditions such as chronic kidney disease, sleep apnea, thyroid problems, or certain tumors. This happens because these other conditions change the way your body controls fluids, sodium, and hormones in your blood, which leads to secondary high blood pressure.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to prevent Hypoglycemia ?"}, {"role": "assistant", "content": "Diabetes treatment plans are designed to match the dose and timing of medication to a person's usual schedule of meals and activities. Mismatches could result in hypoglycemia. For example, taking a dose of insulinor other medication that increases insulin levelsbut then skipping a meal could result in hypoglycemia.\n \nTo help prevent hypoglycemia, people with diabetes should always consider the following:\n \n- Their diabetes medications. A health care provider can explain which diabetes medications can cause hypoglycemia and explain how and when to take medications. For good diabetes management, people with diabetes should take diabetes medications in the recommended doses at the recommended times. In some cases, health care providers may suggest that patients learn how to adjust medications to match changes in their schedule or routine. - Their meal plan. A registered dietitian can help design a meal plan that fits one's personal preferences and lifestyle. Following one's meal plan is important for managing diabetes. People with diabetes should eat regular meals, have enough food at each meal, and try not to skip meals or snacks. Snacks are particularly important for some people before going to sleep or exercising. Some snacks may be more effective than others in preventing hypoglycemia overnight. The dietitian can make recommendations for snacks. - Their daily activity. To help prevent hypoglycemia caused by physical activity, health care providers may advise - checking blood glucose before sports, exercise, or other physical activity and having a snack if the level is below 100 milligrams per deciliter (mg/dL) - adjusting medication before physical activity - checking blood glucose at regular intervals during extended periods of physical activity and having snacks as needed - checking blood glucose periodically after physical activity - Their use of alcoholic beverages. Drinking alcoholic beverages, especially on an empty stomach, can cause hypoglycemia, even a day or two later. Heavy drinking can be particularly dangerous for people taking insulin or medications that increase insulin production. Alcoholic beverages should always be consumed with a snack or meal at the same time. A health care provider can suggest how to safely include alcohol in a meal plan. - Their diabetes management plan. Intensive diabetes managementkeeping blood glucose as close to the normal range as possible to prevent long-term complicationscan increase the risk of hypoglycemia. Those whose goal is tight control should talk with a health care provider about ways to prevent hypoglycemia and how best to treat it if it occurs.\n \nWhat to Ask the Doctor about Diabetes Medications\n \nPeople who take diabetes medications should ask their doctor or health care provider\n \n- whether their diabetes medications could cause hypoglycemia - when they should take their diabetes medications - how much medication they should take - whether they should keep taking their diabetes medications when they are sick - whether they should adjust their medications before physical activity - whether they should adjust their medications if they skip a meal", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Tangier disease ?"}, {"role": "assistant", "content": "Tangier disease is an inherited disorder characterized by significantly reduced levels of high-density lipoprotein (HDL) in the blood. HDL transports cholesterol and certain fats called phospholipids from the body's tissues to the liver, where they are removed from the blood. HDL is often referred to as \"good cholesterol\" because high levels of this substance reduce the chances of developing heart and blood vessel (cardiovascular) disease. Because people with Tangier disease have very low levels of HDL, they have a moderately increased risk of cardiovascular disease. Additional signs and symptoms of Tangier disease include a slightly elevated amount of fat in the blood (mild hypertriglyceridemia); disturbances in nerve function (neuropathy); and enlarged, orange-colored tonsils. Affected individuals often develop atherosclerosis, which is an accumulation of fatty deposits and scar-like tissue in the lining of the arteries. Other features of this condition may include an enlarged spleen (splenomegaly), an enlarged liver (hepatomegaly), clouding of the clear covering of the eye (corneal clouding), and type 2 diabetes.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to Langer-Giedion syndrome ?"}, {"role": "assistant", "content": "Langer-Giedion syndrome is caused by the deletion or mutation of at least two genes on chromosome 8. Researchers have determined that the loss of a functional EXT1 gene is responsible for the multiple osteochondromas seen in people with Langer-Giedion syndrome. Loss of a functional TRPS1 gene may cause the other bone and facial abnormalities. The EXT1 gene and the TRPS1 gene are always missing or mutated in affected individuals, but other neighboring genes may also be involved. The loss of additional genes from this region of chromosome 8 likely contributes to the varied features of this condition. Langer-Giedion syndrome is often described as a contiguous gene deletion syndrome because it results from the loss of several neighboring genes.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Charcot-Marie-Tooth disease type 2F inherited ?"}, {"role": "assistant", "content": "How is Charcot-Marie-Tooth disease type 2F inherited? Charcot-Marie-Tooth disease type 2F is inherited in an autosomal dominant manner. This means that only one mutated copy of the gene in each cell is sufficient to cause the condition. Most affected individuals inherit the mutated gene from an affected parent, but in some cases the mutation occurs for the first time in the affected individual (de novo mutation). When an individual with an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit the mutated gene and have the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Diffuse cutaneous mastocytosis ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Diffuse cutaneous mastocytosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Diffuse cutaneous mastocytosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal blistering of the skin 90% Mastocytosis 90% Abnormality of skin pigmentation 50% Hypotension 50% Impaired temperature sensation 50% Pruritus 50% Subcutaneous hemorrhage 50% Thickened skin 50% Urticaria 50% Gastrointestinal hemorrhage 7.5% Hepatomegaly 7.5% Immunologic hypersensitivity 7.5% Leukemia 7.5% Malabsorption 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Sprains and Strains ?"}, {"role": "assistant", "content": "A sprain is a stretched or torn ligament. Ligaments are tissues that connect bones at a joint. Falling, twisting, or getting hit can all cause a sprain. Ankle and wrist sprains are common. Symptoms include pain, swelling, bruising, and being unable to move your joint. You might feel a pop or tear when the injury happens. A strain is a stretched or torn muscle or tendon. Tendons are tissues that connect muscle to bone. Twisting or pulling these tissues can cause a strain. Strains can happen suddenly or develop over time. Back and hamstring muscle strains are common. Many people get strains playing sports. Symptoms include pain, muscle spasms, swelling, and trouble moving the muscle. At first, treatment of both sprains and strains usually involves resting the injured area, icing it, wearing a bandage or device that compresses the area, and medicines. Later treatment might include exercise and physical therapy. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Schizencephaly ?"}, {"role": "assistant", "content": "Schizencephaly is an extremely rare developmental birth defect characterized by abnormal slits, or clefts, in the cerebral hemispheres of the brain. Babies with clefts in both hemispheres (called bilateral clefts) commonly have developmental delays, delays in speech and language skills, and problems with brain-spinal cord communication. Individuals with clefts in only one hemisphere (called unilateral clefts) are often paralyzed on one side of the body, but may have average to near-average intelligence. Individuals with schizencephaly may also have an abnormally small head, cognitive delay and impairment, partial or complete paralysis, or poor muscle tone. Most will experience seizures. Some individuals may have an excessive accumulation of fluid in the brain called hydrocephalus.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Chromosome 3p- syndrome inherited ?"}, {"role": "assistant", "content": "Is chromosome 3p- syndrome inherited? In most cases, chromosome 3p- syndrome occurs for the first time in the affected person (de novo mutation). However, the deletion is rarely inherited from a parent. In these cases, the deletion is passed down in an autosomal dominant manner. This means that a person with chromosome 3p- syndrome has a 50% chance with each pregnancy of passing the condition on to his or her child. In theory, it is possible for a parent to not have the deletion in their chromosomes on a blood test, but have the deletion in some of their egg or sperm cells only. This phenomenon is called germline mosaicism. In these rare cases, it would be possible to have another child with the deletion. To our knowledge, this has not been reported with chromosome 3p- syndrome. People interested in learning more about genetic risks to themselves or family members should speak with a genetics professional.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Hepatitis B: What Asian and Pacific Islander Americans Need to Know ?"}, {"role": "assistant", "content": "Hepatitis B may start as a brief, flu-like illness. Most healthy adults and children older than 5 completely recover after the bodys immune system gets rid of the virus.\n \nHepatitis B becomes chronic when the bodys immune system cant get rid of the virus. Over time, having the virus can lead to inflammation of the liver; scar tissue in the liver, called cirrhosis; or liver cancer. Inflammation is the painful red swelling that results when tissues of the body become infected. Young children and people with weakened immune systems are especially at risk. People who were infected as infants have a 90 percent chance of developing chronic hepatitis B.1", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Familial Periodic Paralyses ?"}, {"role": "assistant", "content": "Treatment of the periodic paralyses focuses on preventing further attacks and relieving acute symptoms. Avoiding carbohydrate-rich meals and strenuous exercise, and taking acetazolamide daily may prevent hypokalemic attacks. Attacks can be managed by drinking a potassium chloride oral solution. Eating carbohydrate-rich, low-potassium foods, and avoiding strenuous exercise and fasting, can help prevent hyperkalemic attacks. Dichorphenamide may prevent attacks.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is nemaline myopathy inherited ?"}, {"role": "assistant", "content": "Nemaline myopathy is usually inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Less often, this condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases result from new mutations in the gene and occur in people with no history of the disorder in their family.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Ewing sarcoma ?"}, {"role": "assistant", "content": "Ewing sarcoma is a malignant (cancerous) bone tumor that affects children. It can occur any time during childhood and young adulthood, but usually develops during puberty, when bones are growing rapidly. The tumor may arise anywhere in the body, usually in the long bones of the arms and legs, the pelvis, or the chest. It may also develop in the skull or the flat bones of the trunk. There are few symptoms. The most common is pain and occasionally swelling at the site of the tumor. Fever may also be present. The tumor often spreads (metastasis) to the lungs and other bones. The cause of Ewing sarcoma is unknown. Most cases are thought to occur randomly and many involved a reciprocal translocation between chromosomes 11 and 22. Treatment depends upon a number of factors, but may include chemotherapy, radiation and/or surgical interventions.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Kidney Disease ?"}, {"role": "assistant", "content": "Treatments for early kidney disease include both diet and lifestyle changes and medications. Diet and lifestyle changes, such as eating heart healthy foods and exercising regularly to maintain a healthy weight, can help prevent the diseases that cause kidney damage. If you already have diabetes and/or high blood pressure, keeping these conditions under control can keep them from causing further damage to your kidneys. (Watch the video to learn more about dialysis decisions. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.)", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Pericarditis ?"}, {"role": "assistant", "content": "Your doctor will diagnose pericarditis based on your medical history, a physical exam, and the results from tests.\n \nSpecialists Involved\n \nPrimary care doctorssuch as a family doctor, internist, or pediatricianoften diagnose and treat pericarditis. Other types of doctors also may be involved, such as a cardiologist, pediatric cardiologist, and an infectious disease specialist.\n \nA cardiologist treats adults who have heart problems. A pediatric cardiologist treats children who have heart problems. An infectious disease specialist treats people who have infections.\n \nMedical History\n \nYour doctor may ask whether you:\n \nHave had a recent respiratory infection or flu-like illness\n \nHave had a recent heart attack or injury to your chest\n \nHave any other medical conditions\n \nYour doctor also may ask about your symptoms. If you have chest pain, he or she will ask you to describe how it feels, where it's located, and whether it's worse when you lie down, breathe, or cough.\n \nPhysical Exam\n \nWhen the pericardium (the sac around your heart) is inflamed, the amount of fluid between its two layers of tissue increases. As part of the exam, your doctor will look for signs of excess fluid in your chest.\n \nA common sign is the pericardial rub. This is the sound of the pericardium rubbing against the outer layer of your heart. Your doctor will place a stethoscope on your chest to listen for this sound.\n \nYour doctor may hear other chest sounds that are signs of fluid in the pericardium (pericardial effusion) or the lungs (pleural effusion). These are more severe problems related to pericarditis.\n \nDiagnostic Tests\n \nYour doctor may recommend one or more tests to diagnose your condition and show how severe it is. The most common tests are:\n \nEKG (electrocardiogram). This simple test detects and records your heart's electrical activity. Certain EKG results suggest pericarditis.\n \nChest x ray. A chest x ray creates pictures of the structures inside your chest, such as your heart, lungs, and blood vessels. The pictures can show whether you have an enlarged heart. This is a sign of excess fluid in your pericardium.\n \nEchocardiography. This painless test uses sound waves to create pictures of your heart. The pictures show the size and shape of your heart and how well your heart is working. This test can show whether fluid has built up in the pericardium.\n \nCardiac CT (computed tomography (to-MOG-rah-fee)). This is a type of x ray that takes a clear, detailed picture of your heart and pericardium. A cardiac CT helps rule out other causes of chest pain.\n \nCardiac MRI (magnetic resonance imaging). This test uses powerful magnets and radio waves to create detailed pictures of your organs and tissues. A cardiac MRI can show changes in the pericardium.\n \nYour doctor also may recommend blood tests. These tests can help your doctor find out whether you've had a heart attack, the cause of your pericarditis, and how inflamed your pericardium is.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Do you have information about Air Pollution"}, {"role": "assistant", "content": "Summary : Air pollution is a mixture of solid particles and gases in the air. Car emissions, chemicals from factories, dust, pollen and mold spores may be suspended as particles. Ozone, a gas, is a major part of air pollution in cities. When ozone forms air pollution, it's also called smog. Some air pollutants are poisonous. Inhaling them can increase the chance you'll have health problems. People with heart or lung disease, older adults and children are at greater risk from air pollution. Air pollution isn't just outside - the air inside buildings can also be polluted and affect your health. Environmental Protection Agency", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by Erdheim-Chester disease ?"}, {"role": "assistant", "content": "Erdheim-Chester disease is a rare disorder; its exact prevalence is unknown. More than 500 affected individuals worldwide have been described in the medical literature. For unknown reasons, men are slightly more likely to develop the disease, accounting for about 60 percent of cases.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Porphyria ?"}, {"role": "assistant", "content": "Porphyrias are rare disorders that affect mainly the skin or nervous system and may cause abdominal pain. These disorders are usually inherited, meaning they are caused by abnormalities in genes passed from parents to children. When a person has a porphyria, cells fail to change body chemicals called porphyrins and porphyrin precursors into heme, the substance that gives blood its red color. The body makes heme mainly in the bone marrow and liver. Bone marrow is the soft, spongelike tissue inside the bones; it makes stem cells that develop into one of the three types of blood cellsred blood cells, white blood cells, and platelets.\n \nThe process of making heme is called the heme biosynthetic pathway. One of eight enzymes controls each step of the process. The body has a problem making heme if any one of the enzymes is at a low level, also called a deficiency. Porphyrins and porphyrin precursors of heme then build up in the body and cause illness.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Prostate Enlargement: Benign Prostatic Hyperplasia ?"}, {"role": "assistant", "content": "Lower urinary tract symptoms suggestive of benign prostatic hyperplasia may include\n \n- urinary frequencyurination eight or more times a day - urinary urgencythe inability to delay urination - trouble starting a urine stream - a weak or an interrupted urine stream - dribbling at the end of urination - nocturiafrequent urination during periods of sleep - urinary retention - urinary incontinencethe accidental loss of urine - pain after ejaculation or during urination - urine that has an unusual color or smell\n \nSymptoms of benign prostatic hyperplasia most often come from\n \n- a blocked urethra - a bladder that is overworked from trying to pass urine through the blockage\n \nThe size of the prostate does not always determine the severity of the blockage or symptoms. Some men with greatly enlarged prostates have little blockage and few symptoms, while other men who have minimally enlarged prostates have greater blockage and more symptoms. Less than half of all men with benign prostatic hyperplasia have lower urinary tract symptoms.3\n \nSometimes men may not know they have a blockage until they cannot urinate. This condition, called acute urinary retention, can result from taking over-the-counter cold or allergy medications that contain decongestants, such as pseudoephedrine and oxymetazoline. A potential side effect of these medications may prevent the bladder neck from relaxing and releasing urine. Medications that contain antihistamines, such as diphenhydramine, can weaken the contraction of bladder muscles and cause urinary retention, difficulty urinating, and painful urination. When men have partial urethra blockage, urinary retention also can occur as a result of alcohol consumption, cold temperatures, or a long period of inactivity.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Congenital intrauterine infection-like syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Congenital intrauterine infection-like syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital intrauterine infection-like syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cerebral calcification 90% Hyperreflexia 90% Hypertonia 90% Microcephaly 90% Seizures 90% Abnormality of movement 50% Cerebral cortical atrophy 50% Cataract 5% Opacification of the corneal stroma 5% Renal insufficiency 5% Anteverted nares - Autosomal recessive inheritance - Cerebellar hypoplasia - Decreased liver function - Elevated hepatic transaminases - Failure to thrive - Hepatomegaly - High palate - Increased CSF protein - Intellectual disability, profound - Jaundice - Lissencephaly - Long philtrum - Low-set ears - Microretrognathia - Muscular hypotonia of the trunk - Nystagmus - Pachygyria - Petechiae - Phenotypic variability - Polymicrogyria - Sloping forehead - Spasticity - Splenomegaly - Thrombocytopenia - Ventriculomegaly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "how common are these diseases for Marine Toxins ?"}, {"role": "assistant", "content": "Every year, approximately 30 cases of poisoning by marine toxins are reported in the United States. Because healthcare providers are not required to report these illnesses and because many milder cases are not diagnosed or reported, the actual number of poisonings may be much greater. Toxic seafood poisonings are more common in the summer than winter because dinoflagelates grow well in warmer seasons. It is estimated from cases with available data that one person dies every 4 years from toxic seafood poisonings.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to GM1 gangliosidosis ?"}, {"role": "assistant", "content": "Mutations in the GLB1 gene cause GM1 gangliosidosis. The GLB1 gene provides instructions for making an enzyme called beta-galactosidase (-galactosidase), which plays a critical role in the brain. This enzyme is located in lysosomes, which are compartments within cells that break down and recycle different types of molecules. Within lysosomes, -galactosidase helps break down several molecules, including a substance called GM1 ganglioside. GM1 ganglioside is important for normal functioning of nerve cells in the brain. Mutations in the GLB1 gene reduce or eliminate the activity of -galactosidase. Without enough functional -galactosidase, GM1 ganglioside cannot be broken down when it is no longer needed. As a result, this substance accumulates to toxic levels in many tissues and organs, particularly in the brain. Progressive damage caused by the buildup of GM1 ganglioside leads to the destruction of nerve cells in the brain, causing many of the signs and symptoms of GM1 gangliosidosis. In general, the severity of GM1 gangliosidosis is related to the level of -galactosidase activity. Individuals with higher enzyme activity levels usually have milder signs and symptoms than those with lower activity levels because they have less accumulation of GM1 ganglioside within the body. Conditions such as GM1 gangliosidosis that cause molecules to build up inside the lysosomes are called lysosomal storage disorders.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Intestinal Pseudo-obstruction ?"}, {"role": "assistant", "content": "To diagnose intestinal pseudo-obstruction, a health care provider may suggest the person consult a gastroenterologista doctor who specializes in digestive diseases. A health care provider will perform a physical exam; take a complete medical history, imaging studies, and a biopsy; and perform blood tests. A health care provider may order other tests to confirm the diagnosis. The health care provider also will look for the cause of the condition, such as an underlying illness.\n \nIntestinal pseudo-obstruction can be difficult to diagnose, especially primary intestinal pseudo-obstruction. As a result, a correct diagnosis may take a long time.\n \nPhysical Exam\n \nA physical exam is one of the first things a health care provider may do to help diagnose intestinal pseudo-obstruction. During a physical exam, a health care provider usually\n \n- examines a persons body - uses a stethoscope to listen to bodily sounds - taps on specific areas of the persons body\n \nMedical History\n \nThe health care provider will ask a person to provide a medical and family history to help diagnose intestinal pseudo-obstruction.\n \nImaging Studies\n \nA health care provider may order the following imaging studies:\n \n- Abdominal x ray. An x ray is a picture recorded on film or a computer that a technician takes using low-level radiation. The amount of radiation used is small. An x-ray technician takes the x ray at a hospital or an outpatient center, and a radiologista doctor who specializes in medical imaginginterprets the images. A person does not need anesthesia. The person will lie on a table or stand during the x ray. The technician positions the x-ray machine over the abdominal area. The person will hold his or her breath as the technician takes the picture so that the picture will not be blurry. The technician may ask the person to change position for additional pictures. An x ray of the abdominal area will show whether symptoms are due to an intestinal blockage. - Upper GI series. A health care provider may order an upper GI series to look at the small intestine. An x-ray technician performs the test at a hospital or an outpatient center, and a radiologist interprets the images; the health care provider may give infants and children anesthesia. A person should not eat or drink for 8 hours before the procedure, if possible. During the procedure, the person will stand or sit in front of an x-ray machine and drink barium, a chalky liquid. Infants lie on a table and the technician will give them barium through a tiny tube placed in the nose that runs into the stomach. Barium coats the lining of the small intestine, making signs of obstruction show up more clearly on x rays. A person may experience bloating and nausea for a short time after the test. Barium liquid in the GI tract causes stools to be white or light colored for several days or longer in people with intestinal pseudo-obstruction. A health care provider will give the person specific instructions about eating and drinking after the test. - Lower GI series. A health care provider may order a lower GI series, an x-ray exam to look at the large intestine. An x-ray technician performs the test at a hospital or an outpatient center, and a radiologist interprets the images. A person does not need anesthesia. The health care provider may provide written bowel prep instructions to follow at home before the test. The health care provider may ask the person to follow a clear liquid diet for 1 to 3 days before the procedure. A person may need to use a laxative or an enema before the test. A laxative is medication that loosens stool and increases bowel movements. An enema involves flushing water or laxative into the anus using a special squirt bottle. For the test, the person will lie on a table while the health care provider inserts a flexible tube into the persons anus. The health care provider will fill the large intestine with barium, making signs of underlying problems show up more clearly on x rays. The test can show problems with the large intestine that are causing the persons symptoms. Barium liquid in the GI tract causes stools to be white or light colored for several days or longer in people with intestinal pseudo-obstruction. Enemas and repeated bowel movements may cause anal soreness. A health care provider will provide specific instructions about eating and drinking after the test. - Computerized tomography (CT) scan. CT scans use a combination of x rays and computer technology to create images. An x-ray technician performs the test at a hospital or an outpatient center, and a radiologist interprets the images. For a CT scan, a health care provider may give the person a solution to drink and an injection of a special dye, called contrast medium. CT scans require the person to lie on a table that slides into a tunnel-shaped device where the technician takes the x rays. CT scans can show both the internal and external intestinal wall. The health care provider may give children a sedative to help them fall asleep for the test. - Upper GI endoscopy. This procedure involves using an endoscopea small, flexible tube with a lightto see the upper GI tract, which includes the esophagus, stomach, and duodenum. A gastroenterologist performs the test at a hospital or an outpatient center. The gastroenterologist carefully feeds the endoscope down the esophagus and into the stomach and duodenum. A small camera mounted on the endoscope transmits a video image to a monitor, allowing close examination of the intestinal lining. A health care provider may give a person a liquid anesthetic to gargle or may spray anesthetic on the back of the persons throat. A health care provider will place an intravenous (IV) needle in a vein in the arm to administer sedation. Sedatives help patients stay relaxed and comfortable. This test can show blockages or other conditions in the upper small intestine. A gastroenterologist may obtain a biopsy of the lining of the small intestine during an upper GI endoscopy.\n \nBiopsy\n \nA gastroenterologist can obtain a biopsy of the intestinal wall during endoscopy or during surgery, if the person has surgery for intestinal pseudo-obstruction and the cause is unknown. If the health care provider needs to examine the nerves in the intestinal wall, a deeper biopsy, which a gastroenterologist can typically obtain only during surgery, is necessary.\n \nA biopsy is a procedure that involves taking a piece of the intestinal wall tissue for examination with a microscope. A health care provider performs the biopsy in a hospital and uses light sedation and local anesthetic; the health care provider uses general anesthesia if performing the biopsy during surgery. A pathologista doctor who specializes in diagnosing diseasesexamines the intestinal tissue in a lab. Diagnosing problems in the nerve pathways of the intestinal tissue requires special techniques that are not widely available.\n \nA health care provider can also use a biopsy obtained during endoscopy to rule out celiac disease. Celiac disease is an autoimmune disorder in which people cannot tolerate gluten because it damages the lining of their small intestine and prevents absorption of nutrients. Gluten is a protein found in wheat, rye, and barley and in products such as vitamin and nutrient supplements, lip balms, and certain medications.\n \nBlood Tests\n \nA blood test involves drawing blood at a health care providers office or a commercial facility and sending the sample to a lab for analysis. The blood test can show the presence of other diseases or conditions that may be causing a persons symptoms. The blood test also can show levels of essential vitamins and minerals to help detect malnutrition.\n \nManometry\n \nManometry is a test that measures muscle pressure and movements in the GI tract, such as how well the smooth muscles of the stomach and small intestine contract and relax. A gastroenterologist performs the test at a hospital or an outpatient center. While the person is under sedation, a health care provider places a thin tube, or manometry tube, into the stomach and moves it down into the small intestine. A gastroenterologist may use an endoscope to place this tube. A health care provider will move the person to a manometry room and connect the manometry tube to a computer. When the person wakes up from sedation, the computer records the pressure inside the intestine while the person is fasting and after the person has eaten a meal. Manometry can confirm the diagnosis of intestinal pseudo-obstruction and show the extent of the condition.\n \nGastric Emptying Tests\n \nGastric emptying tests can show if a disorder called gastroparesis is causing a persons symptoms. People with gastroparesis, which literally refers to a paralyzed stomach, have severely delayed gastric emptying, or the delayed movement of food from the stomach to the small intestine. Some patients with intestinal pseudo-obstruction also have gastroparesis.\n \nTypes of gastric emptying tests include the following:\n \n- Gastric emptying scintigraphy. This test involves eating a bland mealsuch as eggs or an egg substitutethat contains a small amount of radioactive material. A specially trained technician performs the test in a radiology center or hospital, and a radiologist interprets the results; the person does not need anesthesia. An external camera scans the abdomen to show where the radioactive material is located. The radiologist is then able to measure the rate of gastric emptying at 1, 2, 3, and 4 hours after the meal. Normal values depend on the composition of the meal. With some meals, if more than 10 percent of the meal is still in the stomach at 4 hours, a health care provider confirms the diagnosis of gastroparesis. Obtaining scans for 4 hours after the meal is essential. When the technician only obtains scans 1 to 2 hours after the meal, the results are often unreliable. - Breath test. With this test, the person eats a meal containing a small amount of nonradioactive material. Then, the health care provider takes breath samples over a period of several hours to measure the amount of nonradioactive material in the exhaled breath. The results allow the health care provider to calculate how fast the stomach is emptying. - SmartPill. The SmartPill is a small electronic device in capsule form. The SmartPill test is available at specialized outpatient centers. The person swallows the device so that it can move through the entire digestive tract and send information to a cell-phone-sized receiver worn around the persons waist or neck. The recorded information provides details about how quickly food travels through each part of the digestive tract.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Combined malonic and methylmalonic aciduria ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Combined malonic and methylmalonic aciduria? The Human Phenotype Ontology provides the following list of signs and symptoms for Combined malonic and methylmalonic aciduria. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Dehydration - Diarrhea - Failure to thrive - Generalized clonic seizures - Ketoacidosis - Methylmalonic aciduria - Vomiting - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Psoriasis ?"}, {"role": "assistant", "content": "Light therapy, also called phototherapy, uses ultraviolet light to treat skin lesions. Laser therapy delivers intense, focused doses of light to specific areas of the skin to clear lesions without harming surrounding tissues.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) hereditary hemochromatosis ?"}, {"role": "assistant", "content": "Hereditary hemochromatosis is a disorder that causes the body to absorb too much iron from the diet. The excess iron is stored in the body's tissues and organs, particularly the skin, heart, liver, pancreas, and joints. Because humans cannot increase the excretion of iron, excess iron can overload and eventually damage tissues and organs. For this reason, hereditary hemochromatosis is also called an iron overload disorder. Early symptoms of hereditary hemochromatosis are nonspecific and may include fatigue, joint pain, abdominal pain, and loss of sex drive. Later signs and symptoms can include arthritis, liver disease, diabetes, heart abnormalities, and skin discoloration. The appearance and progression of symptoms can be affected by environmental and lifestyle factors such as the amount of iron in the diet, alcohol use, and infections. Hereditary hemochromatosis is classified by type depending on the age of onset and other factors such as genetic cause and mode of inheritance. Type 1, the most common form of the disorder, and type 4 (also called ferroportin disease) begin in adulthood. Men with type 1 or type 4 hemochromatosis typically develop symptoms between the ages of 40 and 60, and women usually develop symptoms after menopause. Type 2 hemochromatosis is a juvenile-onset disorder. Iron accumulation begins early in life, and symptoms may appear in childhood. By age 20, decreased or absent secretion of sex hormones is evident. Females usually begin menstruation in a normal manner, but menses stop after a few years. Males may experience delayed puberty or symptoms related to a shortage of sex hormones. If the disorder is untreated, heart disease becomes evident by age 30. The onset of type 3 hemochromatosis is usually intermediate between types 1 and 2. Symptoms of type 3 hemochromatosis generally begin before age 30.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Chang Davidson Carlson syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Chang Davidson Carlson syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Chang Davidson Carlson syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the kidney 95% Abnormality of retinal pigmentation 90% Abnormality of the genital system 90% Anterior hypopituitarism 90% Micropenis 88% Myopia 75% Astigmatism 63% Cataract 30% Glaucoma 22% Rod-cone dystrophy 8% Abnormality of the ovary 7.5% Hearing impairment 7.5% Macrocephaly 7.5% Vaginal atresia 7.5% Aganglionic megacolon 5% Asthma - Ataxia - Autosomal recessive inheritance - Biliary tract abnormality - Brachydactyly syndrome - Broad foot - Congenital primary aphakia - Decreased testicular size - Delayed speech and language development - Dental crowding - Diabetes mellitus - Foot polydactyly - Gait imbalance - Hepatic fibrosis - High palate - Hirsutism - Hypertension - Hypodontia - Hypogonadism - Intellectual disability - Left ventricular hypertrophy - Nephrogenic diabetes insipidus - Neurological speech impairment - Nystagmus - Obesity - Poor coordination - Postaxial hand polydactyly - Radial deviation of finger - Retinal degeneration - Short foot - Specific learning disability - Strabismus - Syndactyly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by tuberous sclerosis complex ?"}, {"role": "assistant", "content": "Tuberous sclerosis complex affects about 1 in 6,000 people.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Ornithine translocase deficiency syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Ornithine translocase deficiency syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ornithine translocase deficiency syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Intellectual disability 30% Chorioretinal atrophy 1% Abnormal pyramidal signs - Acute encephalopathy - Acute hepatitis - Autosomal recessive inheritance - Cerebral cortical atrophy - Clonus - Coma - Decreased liver function - Decreased nerve conduction velocity - Episodic vomiting - Failure to thrive - Generalized myoclonic seizures - Hepatomegaly - Hyperammonemia - Hyperornithinemia - Hypopigmentation of the fundus - Lethargy - Morphological abnormality of the pyramidal tract - Muscular hypotonia - Phenotypic variability - Poor coordination - Protein avoidance - Spastic paraparesis - Specific learning disability - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Acid Lipase Disease ?"}, {"role": "assistant", "content": "Enzyme replacement therapy for both Wolman's and cholesteryl ester storage disease is currently under investigation. Certain drugs may be given to help with adrenal gland production, and children may need to be fed intravenously. Individuals with CESD may benefit from a low cholesterol diet.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Antisynthetase syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Antisynthetase syndrome? The signs and symptoms of antisynthetase syndrome vary but may include: Fever Loss of appetite Weight loss Muscle inflammation (myositis) Inflammation of multiple joints (polyarthritis) Interstitial lung disease (causing shortness of breath, coughing, and/or dysphagia) Mechanic's hands (thickened skin of tips and margins of the fingers) Raynaud phenomenon Some studies suggest that affected people may be at an increased risk for various types of cancer, as well. The Human Phenotype Ontology provides the following list of signs and symptoms for Antisynthetase syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autoimmunity 90% Chest pain 90% Muscle weakness 90% Myalgia 90% Myositis 90% Pulmonary fibrosis 90% Respiratory insufficiency 90% Restrictive lung disease 90% Abnormality of temperature regulation 50% Acrocyanosis 50% Dry skin 50% Edema 50% EMG abnormality 50% Keratoconjunctivitis sicca 50% Lack of skin elasticity 50% Muscular hypotonia 50% Xerostomia 50% Abnormality of the aortic valve 7.5% Abnormality of the myocardium 7.5% Abnormality of the voice 7.5% Chondrocalcinosis 7.5% Feeding difficulties in infancy 7.5% Joint dislocation 7.5% Neoplasm 7.5% Pruritus 7.5% Pulmonary hypertension 7.5% Recurrent respiratory infections 7.5% Skin rash 7.5% Telangiectasia of the skin 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Do you have information about Minerals"}, {"role": "assistant", "content": "Summary : Minerals are important for your body to stay healthy. Your body uses minerals for many different jobs, including building bones, making hormones and regulating your heartbeat. There are two kinds of minerals: macrominerals and trace minerals. Macrominerals are minerals your body needs in larger amounts. They include calcium, phosphorus, magnesium, sodium, potassium, chloride and sulfur. Your body needs just small amounts of trace minerals. These include iron, manganese, copper, iodine, zinc, cobalt, fluoride and selenium. The best way to get the minerals your body needs is by eating a wide variety of foods. In some cases, your doctor may recommend a mineral supplement.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Distal chromosome 18q deletion syndrome ?"}, {"role": "assistant", "content": "Distal chromosome 18q deletion syndrome is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material at the end of the long arm (q) of chromosome 18. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with distal chromosome 18q deletion syndrome include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome testing of both parents can provide more information on whether or not the deletion was inherited. In most cases, parents do not have any chromosomal anomaly. However, sometimes one parent is found to have a balanced translocation, where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. The balanced translocation normally does not cause any signs or symptoms, but it increases the risk for having an affected child with a chromosomal anomaly like a deletion. Treatment is based on the signs and symptoms present in each person. This page is meant to provide general information about distal 18q deletions. You can contact GARD if you have questions about a specific deletion on chromosome 18. To learn more about chromosomal anomalies please visit our GARD webpage on FAQs about Chromosome Disorders.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Renal Tubular Acidosis ?"}, {"role": "assistant", "content": "Type 1: Classical Distal RTA\n \nType 1 is also called classical distal RTA. \"Distal,\" which means distant, refers to the point in the urine-forming tube of the kidney where the defect occursrelatively distant from the point where fluid from the blood enters the tiny tube, or tubule, that collects fluid and wastes to form urine.\n \nThis disorder may be inherited as a primary disorder or may be one symptom of a disease that affects many parts of the body. Researchers have discovered abnormal genes responsible for the inherited forms of the disease. More often, however, classical distal RTA occurs as a result of systemic diseasesdiseases that affect many organ systemslike the autoimmune disorders Sjgren's syndrome and lupus, which also attack the distal tubule.\n \nOther diseases and conditions associated with classical distal RTA include sickle cell anemia, hyperparathyroidism, hyperthyroidism, chronic active hepatitis, primary biliary cirrhosis, a hereditary form of deafness, analgesic nephropathy, rejection of a transplanted kidney, renal medullary cystic disease, obstructive uropathy, and chronic urinary tract infections. Many of these conditions cause abnormal calcium deposits to build up in the kidney and impair distal tubule function.\n \nA major consequence of classical distal RTA is a low blood potassium level. The level drops if the kidneys excrete too much potassium into urine instead of returning it to the blood supply. Because potassium helps regulate nerve and muscle health and heart rate, low levels can cause extreme weakness, irregular heartbeat, paralysis, and even death.\n \nUntreated classical distal RTA causes growth retardation in children and progressive kidney and bone disease in adults. Restoring normal growth and preventing kidney stones are the major goals of therapy. If acidosis is corrected with sodium bicarbonate or sodium citrate, then low blood-potassium, salt depletion, and calcium leakage into urine will be corrected. This alkali therapy also helps decrease the development of kidney stones and stabilizes kidney function so kidney failure does not progress. Infants may need potassium supplements, but older children and adults rarely do because alkali therapy prevents the kidney from excreting potassium into the urine.\n \nType 2: Proximal RTA\n \nType 2 is also called proximal RTA. The word \"proximal,\" which means near, indicates that the defect is closer to the point where fluid and wastes from the blood enter the tubule.\n \nThis form of RTA occurs most frequently in children as part of a disorder called Fanconi's syndrome. The features of Fanconi's syndrome include the abnormal excretion of glucose, amino acids, citrate, and phosphate into the urine, as well as vitamin D deficiency and low blood-potassium.\n \nProximal RTA can also result from inherited disorders that disrupt the body's normal breakdown and use of nutrients. Examples include the rare disease cystinosis, in which cystine crystals are deposited in bones and other tissues; hereditary fructose intolerance; and Wilson disease.\n \nProximal RTA also occurs in patients treated with ifosfamide, a drug used in chemotherapy. A few older drugssuch as acetazolamide or outdated tetracyclinecan also cause proximal RTA. In adults, proximal RTA may complicate diseases like multiple myeloma, or it may occur in people who experience chronic rejection of a transplanted kidney.\n \nWhen possible, identifying and correcting the underlying causes are important steps in treating the acquired forms of proximal RTA. The diagnosis is based on the chemical analysis of blood and urine samples. Children with this disorder would likely receive large doses of an oral alkali, such as sodium bicarbonate or potassium citrate, to treat acidosis and prevent bone disorders, kidney stones, and growth failure. Correcting acidosis and low potassium levels restores normal growth patterns, allowing bone to mature while preventing further renal disease. Vitamin D supplements may also be needed to help prevent bone problems.\n \nType 3\n \nType 3 is rarely used as a classification because it is now thought to be a combination of type 1 and type 2.\n \nType 4: Hyperkalemic RTA\n \nType 4 is also called hyperkalemic RTA and is caused by a generalized transport abnormality of the distal tubule. The transport of electrolytes such as sodium, chloride, and potassium that normally occurs in the distal tubule is impaired. This form is distinguished from classical distal RTA and proximal RTA because it results in high levels of potassium in the blood instead of low levels. Either low potassiumhypokalemiaor high potassiumhyperkalemiacan be a problem because potassium is important in regulating heart rate.\n \nType 4 RTA occurs when blood levels of the hormone aldosterone are low or when the kidneys do not respond to it. Aldosterone directs the kidneys to regulate the levels of sodium, potassium, and chloride in the blood. Type 4 RTA also occurs when the tubule transport of electrolytes such as sodium, chloride, and potassium is impaired due to an inherited disorder or the use of certain drugs.\n \nDrugs that may cause type 4 RTA include\n \n- diuretics used to treat congestive heart failure such as spironolactone or eplerenone - blood pressure drugs called angiotensin-converting enzyme (ACE) inhibitors and angiotensin receptor blockers (ARBs) - the antibiotic trimethoprim - the antibiotic pentamidine, which is used to treat pneumonia - an agent called heparin that keeps blood from clotting - a class of painkillers called nonsteroidal anti-inflammatory drugs (NSAIDs) - some immunosuppressive drugs used to prevent rejection\n \nType 4 RTA may also result from diseases that alter kidney structure and function such as diabetic nephropathy, HIV/AIDS, Addison's disease, sickle cell disease, urinary tract obstruction, lupus, amyloidosis, removal or destruction of both adrenal glands, and kidney transplant rejection.\n \nFor people who produce aldosterone but cannot use it, researchers have identified the genetic basis for their body's resistance to the hormone. To treat type 4 RTA successfully, patients may require alkaline agents to correct acidosis and medication to lower the potassium in their blood.\n \nIf treated early, most people with any type of RTA will not develop permanent kidney failure. Therefore, the goal is early recognition and adequate therapy, which will need to be maintained and monitored throughout the person's lifetime.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) VACTERL association ?"}, {"role": "assistant", "content": "VACTERL association is a non-random association of birth defects that affects multiple parts of the body. The term VACTERL is an acronym with each letter representing the first letter of one of the more common findings seen in affected individuals: (V) = vertebral abnormalities; (A) = anal atresia; (C) = cardiac (heart) defects; (T) = tracheal anomalies including tracheoesophageal (TE) fistula; (E) = esophageal atresia; (R) = renal (kidney) and radial (thumb side of hand) abnormalities; and (L) = other limb abnormalities. Other features may include (less frequently) growth deficiencies and failure to thrive; facial asymmetry (hemifacial microsomia); external ear malformations; intestinal malrotation; and genital anomalies. Intelligence is usually normal. The exact cause of VACTERL association is unknown; most cases occur randomly, for no apparent reason. In rare cases, VACTERL association has occurred in more than one family member.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by autoimmune Addison disease ?"}, {"role": "assistant", "content": "Addison disease affects approximately 11 to 14 in 100,000 people of European descent. The autoimmune form of the disorder is the most common form in developed countries, accounting for up to 90 percent of cases.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "what research (or clinical trials) is being done for Kleine-Levin Syndrome ?"}, {"role": "assistant", "content": "NINDS supports a broad range of clinical and basic research on diseases causing sleep disorders in an effort to clarify the mechanisms of these conditions and to develop better treatments for them.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to PMM2-congenital disorder of glycosylation ?"}, {"role": "assistant", "content": "PMM2-CDG is caused by mutations in the PMM2 gene. This gene provides instructions for making an enzyme called phosphomannomutase 2 (PMM2). The PMM2 enzyme is involved in a process called glycosylation, which attaches groups of sugar molecules (oligosaccharides) to proteins. Glycosylation modifies proteins so they can perform a wider variety of functions. Mutations in the PMM2 gene lead to the production of an abnormal PMM2 enzyme with reduced activity. Without a properly functioning PMM2 enzyme, glycosylation cannot proceed normally. As a result, incorrect oligosaccharides are produced and attached to proteins. The wide variety of signs and symptoms in PMM2-CDG are likely due to the production of abnormally glycosylated proteins in many organs and tissues.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by cholesteryl ester storage disease ?"}, {"role": "assistant", "content": "Cholesteryl ester storage disease appears to be a rare disorder. About 50 individuals affected by this condition have been reported worldwide.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Who is at risk for Fanconi Anemia? ?"}, {"role": "assistant", "content": "Fanconi anemia (FA) occurs in all racial and ethnic groups and affects men and women equally.\n \nIn the United States, about 1 out of every 181 people is an FA carrier. This carrier rate leads to about 1 in 130,000 people being born with FA.\n \nTwo ethnic groups, Ashkenazi Jews and Afrikaners, are more likely than other groups to have FA or be FA carriers.\n \nAshkenazi Jews are people who are descended from the Jewish population of Eastern Europe. Afrikaners are White natives of South Africa who speak a language called Afrikaans. This ethnic group is descended from early Dutch, French, and German settlers.\n \nIn the United States, 1 out of 90 Ashkenazi Jews is an FA carrier, and 1 out of 30,000 is born with FA.\n \nMajor Risk Factors\n \nFA is an inherited diseasethat is, it's passed from parents to children through genes. At least 13 faulty genes are associated with FA. FA occurs if both parents pass the same faulty FA gene to their child.\n \nChildren born into families with histories of FA are at risk of inheriting the disorder. Children whose mothers and fathers both have family histories of FA are at even greater risk. A family history of FA means that it's possible that a parent carries a faulty gene associated with the disorder.\n \nChildren whose parents both carry the same faulty gene are at greatest risk of inheriting FA. Even if these children aren't born with FA, they're still at risk of being FA carriers.\n \nChildren who have only one parent who carries a faulty FA gene also are at risk of being carriers. However, they're not at risk of having FA.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Saccharopinuria ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Saccharopinuria? The Human Phenotype Ontology provides the following list of signs and symptoms for Saccharopinuria. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - EEG abnormality - Histidinuria - Hyperlysinuria - Intellectual disability - Short stature - Spastic diplegia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Neonatal progeroid syndrome ?"}, {"role": "assistant", "content": "What causes neonatal progeroid syndrome? The exact underlying cause of neonatal progeroid syndrome is unknown. Scientists suspect that it is a genetic condition; however, a disease-causing gene has not been identified.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Congenital anosmia inherited ?"}, {"role": "assistant", "content": "Is congenital anosmia inherited? Most cases of isolated congenital anosmia (not associated with additional symptoms) occur sporadically in people with no family history of the condition. Rarely, more than one family member may be affected. In these families, the condition appears to be inherited in an autosomal dominant manner with reduced penetrance. Congenital anosmia can also by associated with specific genetic disorders such as Kallmann syndrome and congenital insensitivity to pain. In these cases, the inheritance varies based on the associated condition. For example, Kallmann syndrome can be inherited in an autosomal dominant, autosomal recessive or X-linked recessive manner depending on the underlying genetic cause (it can be caused by mutations in several different genes). Congenital insensitivity to pain follows an autosomal recessive pattern of inheritance.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is neonatal onset multisystem inflammatory disease inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In almost all cases, NOMID results from new mutations. These cases occur in people with no history of the disorder in their family. A few cases have been reported in which an affected person has inherited the mutation from one affected parent.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Loin pain hematuria syndrome ?"}, {"role": "assistant", "content": "What causes loin pain hematuria syndrome? The exact underlying cause of loin pain hematuria syndrome (LPHS) is currently unknown. However, scientists have proposed several theories. For example, some cases of LPHS may be due to abnormal glomerular basement membranes, which are the tissues in the kidney that filter blood. If these tissues are abnormal, red blood cells may be allowed to enter the urinary space, leading to both loin pain and hematuria (blood in the urine). Other factors that may lead to the signs and symptoms of LPHS include: Blood disorders, called coagulopathies, which impair the bloods ability to clot Spasms in the kidney's blood vessels which may restrict blood flow to certain tissues and lead to tissue death Up to 50% of people affected by LPHS also experience kidney stones. Some scientists, therefore, suspect that the formation of crystals and/or stones in the kidney may also contribute to the condition as they may block or injure the renal tubules (the long narrow tubes in the kidney that concentrate and transport urine).", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by aromatase deficiency ?"}, {"role": "assistant", "content": "The prevalence of aromatase deficiency is unknown; approximately 20 cases have been described in the medical literature.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to prevent Oral Cavity and Oropharyngeal Cancer ?"}, {"role": "assistant", "content": "Key Points\n - Avoiding risk factors and increasing protective factors may help prevent cancer. - The following are risk factors for oral cavity cancer and oropharyngeal cancer: - Tobacco use - Alcohol use - Tobacco and alcohol use - Betel quid or gutka chewing - Personal history of head and neck cancer - The following is a risk factor for oropharyngeal cancer: - HPV infection - The following is a protective factor for oral cavity cancer and oropharyngeal cancer: - Quitting smoking - It is not clear whether avoiding certain risk factors will decrease the risk of oral cavity cancer or oropharyngeal cancer. - Cancer prevention clinical trials are used to study ways to prevent cancer. - New ways to prevent oral cavity cancer and oropharyngeal cancer are being studied in clinical trials.\n \n \n Avoiding risk factors and increasing protective factors may help prevent cancer.\n Avoiding cancer risk factors may help prevent certain cancers. Risk factors include smoking, being overweight, and not getting enough exercise. Increasing protective factors such as quitting smoking and exercising may also help prevent some cancers. Talk to your doctor or other health care professional about how you might lower your risk of cancer. Oral cavity cancer and oropharyngeal cancer are two different diseases, but they have some risk factors in common.\n \n \n The following are risk factors for oral cavity cancer and oropharyngeal cancer:\n Tobacco use Using tobacco is the most common cause of oral cavity cancer and oropharyngeal cancer. The risk of these cancers is about 5 to 10 times higher for current smokers than for people who have never smoked. The use of all types of tobacco, including cigarettes, pipes, cigars, and smokeless tobacco (snuff and chewing tobacco) can cause cancer of the oral cavity and oropharynx. For cigarette smokers, the risk of oral cavity cancer and oropharyngeal cancer increases with the number of cigarettes smoked per day. Alcohol use Using alcohol is also an important risk factor for oral cavity cancer and oropharyngeal cancer. The risk of oral cavity cancer and oropharyngeal cancer increases with the number of alcoholic drinks consumed per day. The risk of oral cavity cancer and oropharyngeal cancer is about twice as high in people who have 3 to 4 alcoholic drinks per day and 5 times higher in people who have 5 or more alcoholic drinks per day compared with those who don't drink alcohol. Tobacco and alcohol use The risk of oral cavity cancer and oropharyngeal cancer is 2 to 3 times higher in people who use both tobacco and alcohol than it is in people who use only tobacco or only alcohol. The risk of oral cavity cancer and oropharyngeal cancer is about 35 times higher in people who smoke 2 or more packs of cigarettes per day and have more than 4 alcoholic drinks per day than it is in people who have never smoked cigarettes or consumed alcohol. Betel quid or gutka chewing Chewing betel quid or gutka (betel quid mixed with tobacco) has been shown to increase the risk of oral cavity cancer and oropharyngeal cancer. Betel quid contains areca nut, which is a cancer-causing substance. The risk of oral cavity cancer and oropharyngeal cancer increases with how long and how often betel quid or gutka are chewed. The risk for oral cavity cancer and oropharyngeal cancer is higher when chewing gutka than when chewing betel quid alone. Betel quid and gutka chewing is common in many countries in South Asia and Southeast Asia, including China and India. Personal history of head and neck cancer A personal history of head and neck cancer increases the risk of oral cavity cancer and oropharyngeal cancer.\n \n \n The following is a risk factor for oropharyngeal cancer:\n HPV infection Being infected with certain types of HPV, especially HPV type 16, increases the risk of oropharyngeal cancer. HPV infection is spread mainly through sexual contact. The risk of oropharyngeal cancer is about 15 times higher in people who have oral HPV 16 infection compared with people who do not have oral HPV 16 infection.\n \n \n The following is a protective factor for oral cavity cancer and oropharyngeal cancer:\n Quitting smoking Studies have shown that when people stop smoking cigarettes, their risk of oral cavity cancer and oropharyngeal cancer decreases by one half (50%) within 5 years. Within 20 years of quitting, their risk of oral cavity cancer and oropharyngeal cancer is the same as for a person who never smoked cigarettes.\n \n \n It is not clear whether avoiding certain risk factors will decrease the risk of oral cavity cancer or oropharyngeal cancer.\n It has not been proven that stopping alcohol use will decrease the risk of oral cavity cancer or oropharyngeal cancer. Getting an HPV vaccination greatly lessens the risk of oral HPV infection. It is not yet known whether getting an HPV vaccination at any age will decrease the risk of oropharyngeal cancer from HPV infection.\n \n \n Cancer prevention clinical trials are used to study ways to prevent cancer.\n Cancer prevention clinical trials are used to study ways to lower the risk of certain types of cancer. Some cancer prevention trials are done with healthy people who have not had cancer but who have an increased risk for cancer. Other prevention trials are done with people who have had cancer and are trying to prevent another cancer of the same type or to lower their chance of developing a new type of cancer. Other trials are done with healthy volunteers who are not known to have any risk factors for cancer. The purpose of some cancer prevention clinical trials is to find out whether actions people take can prevent cancer. These may include eating fruits and vegetables, exercising, quitting smoking, or taking certain medicines, vitamins, minerals, or food supplements.\n \n \n New ways to prevent oral cavity cancer and oropharyngeal cancer are being studied in clinical trials.\n Clinical trials are taking place in many parts of the country. Information about clinical trials can be found in the Clinical Trials section of the NCI website. Check NCI's list of cancer clinical trials for oral cavity cancer prevention trials and oropharyngeal cancer prevention trials that are now accepting patients.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Chondrodysplasia acromesomelic with genital anomalies ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Chondrodysplasia acromesomelic with genital anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Chondrodysplasia acromesomelic with genital anomalies. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia of the proximal phalanges of the hand - Aplasia/Hypoplasia involving the metacarpal bones - Autosomal recessive inheritance - Broad foot - Carpal synostosis - Disproportionate short-limb short stature - Fibular aplasia - Hypergonadotropic hypogonadism - Hypoplasia of the ulna - Hypoplasia of the uterus - Primary amenorrhea - Radial deviation of finger - Short femoral neck - Short finger - Short phalanx of finger - Short toe - Talipes equinovarus - Tarsal synostosis - Widened proximal tibial metaphyses - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Hereditary lymphedema type II inherited ?"}, {"role": "assistant", "content": "How is hereditary lymphedema type II inherited? Hereditary lymphedema type II appears to have an autosomal dominant pattern of inheritance, which means that one copy of an altered gene in each cell is sufficient to cause the disorder. People with hereditary lymphedema type II usually have at least one other affected family member, in most cases, a parent. When the condition occurs in only one person in a family, the condition is described as Meige-like lymphedema.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) McCune-Albright syndrome ?"}, {"role": "assistant", "content": "McCune-Albright syndrome is a disorder that affects the bones, skin, and several hormone-producing (endocrine) tissues. People with McCune-Albright syndrome develop areas of abnormal scar-like (fibrous) tissue in their bones, a condition called polyostotic fibrous dysplasia. Polyostotic means the abnormal areas (lesions) may occur in many bones; often they are confined to one side of the body. Replacement of bone with fibrous tissue may lead to fractures, uneven growth, and deformity. When lesions occur in the bones of the skull and jaw it can result in uneven (asymmetric) growth of the face. Asymmetry may also occur in the long bones; uneven growth of leg bones may cause limping. Abnormal curvature of the spine (scoliosis) may also occur. Bone lesions may become cancerous, but this happens in fewer than 1 percent of people with McCune-Albright syndrome. In addition to bone abnormalities, affected individuals usually have light brown patches of skin called caf-au-lait spots, which may be present from birth. The irregular borders of the caf-au-lait spots in McCune-Albright syndrome are often compared to a map of the coast of Maine. By contrast, caf-au-lait spots in other disorders have smooth borders, which are compared to the coast of California. Like the bone lesions, the caf-au-lait spots in McCune-Albright syndrome often appear on only one side of the body. Girls with McCune-Albright syndrome usually reach puberty early. These girls usually have menstrual bleeding by age two, many years before secondary sex characteristics such as breast enlargement and pubic hair are evident. This early onset of menstruation is believed to be caused by excess estrogen, a female sex hormone, produced by cysts that develop in one of the ovaries. Less commonly, boys with McCune-Albright syndrome may also experience early puberty. Other endocrine problems may also occur in people with McCune-Albright syndrome. The thyroid gland, a butterfly-shaped organ at the base of the neck, may become enlarged (a condition called a goiter) or develop masses called nodules. About 50 percent of affected individuals produce excessive amounts of thyroid hormone (hyperthyroidism), resulting in a fast heart rate, high blood pressure, weight loss, tremors, sweating, and other symptoms. The pituitary gland (a structure at the base of the brain that makes several hormones) may produce too much growth hormone. Excess growth hormone can result in acromegaly, a condition characterized by large hands and feet, arthritis, and distinctive facial features that are often described as \"coarse.\" Rarely, affected individuals develop Cushing's syndrome, an excess of the hormone cortisol produced by the adrenal glands, which are small glands located on top of each kidney. Cushing's syndrome causes weight gain in the face and upper body, slowed growth in children, fragile skin, fatigue, and other health problems.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Familial hemiplegic migraine ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Familial hemiplegic migraine? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial hemiplegic migraine. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of movement 90% Hemiplegia/hemiparesis 90% Incoordination 50% Nystagmus 50% Abnormality of retinal pigmentation 7.5% EEG abnormality 7.5% Neurological speech impairment 7.5% Sensorineural hearing impairment 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Kidney Stones in Adults ?"}, {"role": "assistant", "content": "Four major types of kidney stones can form:\n \n- Calcium stones are the most common type of kidney stone and occur in two major forms: calcium oxalate and calcium phosphate. Calcium oxalate stones are more common. Calcium oxalate stone formation may be caused by high calcium and high oxalate excretion. Calcium phosphate stones are caused by the combination of high urine calcium and alkaline urine, meaning the urine has a high pH. - Uric acid stones form when the urine is persistently acidic. A diet rich in purinessubstances found in animal protein such as meats, fish, and shellfishmay increase uric acid in urine. If uric acid becomes concentrated in the urine, it can settle and form a stone by itself or along with calcium. - Struvite stones result from kidney infections. Eliminating infected stones from the urinary tract and staying infection-free can prevent more struvite stones. - Cystine stones result from a genetic disorder that causes cystine to leak through the kidneys and into the urine, forming crystals that tend to accumulate into stones.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the complications of Acquired Cystic Kidney Disease ?"}, {"role": "assistant", "content": "People with acquired cystic kidney disease may develop the following complications:\n \n- an infected cyst, which can cause fever and back pain. - blood in the urine, which can signal that a cyst in the kidney is bleeding. - tumors in the kidneys. People with acquired cystic kidney disease are more likely than people in the general population to have cancerous kidney tumors. However, the chance of cancer spreading is lower in people with acquired cystic kidney disease than that of other kidney cancers not associated with acquired cystic kidney disease, and the long-term outlook is better.1", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Restless Legs Syndrome ?"}, {"role": "assistant", "content": "Restless legs syndrome (RLS) is a disorder that causes a strong urge to move your legs. This urge to move often occurs with strange and unpleasant feelings in your legs. Moving your legs relieves the urge and the unpleasant feelings.\n \nPeople who have RLS describe the unpleasant feelings as creeping, crawling, pulling, itching, tingling, burning, aching, or electric shocks. Sometimes, these feelings also occur in the arms.\n \nThe urge to move and unpleasant feelings happen when you're resting and inactive. Thus, they tend to be worse in the evening and at night.\n \nOverview\n \nRLS can make it hard to fall asleep and stay asleep. It may make you feel tired and sleepy during the day. This can make it hard to learn, work, and do other daily activities. Not getting enough sleep also can cause depression, mood swings, or other health problems.\n \nRLS can range from mild to severe based on:\n \nThe strength of your symptoms and how often they occur\n \nHow easily moving around relieves your symptoms\n \nHow much your symptoms disturb your sleep\n \nOne type of RLS usually starts early in life (before 45 years of age) and tends to run in families. It may even start in childhood. Once this type of RLS starts, it usually lasts for the rest of your life. Over time, symptoms slowly get worse and occur more often. If you have a mild case, you may have long periods with no symptoms.\n \nAnother type of RLS usually starts later in life (after 45 years of age). It generally doesn't run in families. This type of RLS tends to have a more abrupt onset. The symptoms usually don't get worse over time.\n \nSome diseases, conditions, and medicines may trigger RLS. For example, the disorder has been linked to kidney failure, Parkinson's disease, diabetes, rheumatoid arthritis, pregnancy, and iron deficiency. When a disease, condition, or medicine causes RLS, the symptoms usually start suddenly.\n \nMedical conditions or medicines often cause or worsen the type of RLS that starts later in life.\n \nOutlook\n \nRLS symptoms often get worse over time. However, some people's symptoms go away for weeks to months.\n \nIf a medical condition or medicine triggers RLS, the disorder may go away if the trigger is relieved or stopped. For example, RLS that occurs due to pregnancy tends to go away after giving birth. Kidney transplants (but not dialysis) relieve RLS linked to kidney failure.\n \nTreatments for RLS include lifestyle changes and medicines. Some simple lifestyle changes often help relieve mild cases of RLS. Medicines often can relieve or prevent the symptoms of more severe RLS.\n \nResearch is ongoing to better understand the causes of RLS and to find better treatments.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by Hermansky-Pudlak syndrome ?"}, {"role": "assistant", "content": "Hermansky-Pudlak syndrome is a rare disorder in most populations and is estimated to affect 1 in 500,000 to 1,000,000 individuals worldwide. Type 1 is more common in Puerto Rico, particularly in the northwestern part of the island where about 1 in 1,800 people are affected. Type 3 is common in people from central Puerto Rico. Groups of affected individuals have been identified in many other regions, including India, Japan, the United Kingdom, and Western Europe.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Metachromatic leukodystrophy ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Metachromatic leukodystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Metachromatic leukodystrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Behavioral abnormality 90% Cognitive impairment 90% Decreased nerve conduction velocity 90% Developmental regression 90% Gait disturbance 90% Genu recurvatum 90% Incoordination 90% Muscle weakness 90% Neurological speech impairment 90% Peripheral neuropathy 90% Reduced consciousness/confusion 90% Seizures 90% Amaurosis fugax 50% Hyperreflexia 50% Hypertonia 50% Limitation of joint mobility 50% Muscular hypotonia 50% Nystagmus 50% Optic atrophy 50% Aganglionic megacolon 7.5% Ataxia - Autosomal recessive inheritance - Babinski sign - Bulbar palsy - Cholecystitis - Chorea - Delusions - Dysarthria - Dystonia - EMG: neuropathic changes - Emotional lability - Gallbladder dysfunction - Hallucinations - Hyporeflexia - Increased CSF protein - Intellectual disability - Loss of speech - Mental deterioration - Peripheral demyelination - Progressive peripheral neuropathy - Spastic tetraplegia - Tetraplegia - Urinary incontinence - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Multicentric Castleman Disease ?"}, {"role": "assistant", "content": "How might multicentric Castleman disease be treated? The treatment of multicentric Castleman disease (MCD) varies based on the severity of the condition and whether or not the patient has an HIV and/or human herpes virus type 8 (HHV-8) infection. Possible treatment options include: Immunotherapy can be used to block the action of the interleukin-6 (IL-6), a protein that is produced in excess by the immune system of people with MCD Chemotherapy may be recommended to slow the growth of lymphatic cells Corticosteroid medications can reduce inflammation Anti-viral drugs can block the activity of HHV-8 or HIV (in people who are infected by these viruses)", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Nerve Disease and Bladder Control ?"}, {"role": "assistant", "content": "Nerves that work poorly can lead to three different kinds of bladder control problems.\n \nOveractive bladder. Damaged nerves may send signals to the bladder at the wrong time, causing its muscles to squeeze without warning. The symptoms of overactive bladder include\n \n- urinary frequencydefined as urination eight or more times a day or two or more times at night - urinary urgencythe sudden, strong need to urinate immediately - urge incontinenceleakage of urine that follows a sudden, strong urge to urinate\n \nPoor control of sphincter muscles. Sphincter muscles surround the urethra and keep it closed to hold urine in the bladder. If the nerves to the sphincter muscles are damaged, the muscles may become loose and allow leakage or stay tight when you are trying to release urine.\n \nUrine retention. For some people, nerve damage means their bladder muscles do not get the message that it is time to release urine or are too weak to completely empty the bladder. If the bladder becomes too full, urine may back up and the increasing pressure may damage the kidneys. Or urine that stays too long may lead to an infection in the kidneys or bladder. Urine retention may also lead to overflow incontinence.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is the outlook for Dystonias ?"}, {"role": "assistant", "content": "The initial symptoms can be very mild and may be noticeable only after prolonged exertion, stress, or fatigue. Dystonias often progress through various stages. Initially, dystonic movements are intermittent and appear only during voluntary movements or stress. Later, individuals may show dystonic postures and movements while walking and ultimately even while they are relaxed. Dystonic motions may lead to permanent physical deformities by causing tendons to shorten.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Kearns-Sayre syndrome inherited ?"}, {"role": "assistant", "content": "This condition is generally not inherited but arises from mutations in the body's cells that occur after conception. This alteration is called a somatic mutation and is present only in certain cells. Rarely, this condition is inherited in a mitochondrial pattern, which is also known as maternal inheritance. This pattern of inheritance applies to genes contained in mtDNA. Because egg cells, but not sperm cells, contribute mitochondria to the developing embryo, children can only inherit disorders resulting from mtDNA mutations from their mother. These disorders can appear in every generation of a family and can affect both males and females, but fathers do not pass traits associated with changes in mtDNA to their children.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to Sjgren-Larsson syndrome ?"}, {"role": "assistant", "content": "Mutations in the ALDH3A2 gene cause Sjgren-Larsson syndrome. The ALDH3A2 gene provides instructions for making an enzyme called fatty aldehyde dehydrogenase (FALDH). The FALDH enzyme is part of a multistep process called fatty acid oxidation in which fats are broken down and converted into energy. Specifically, the FALDH enzyme breaks down molecules called fatty aldehydes to fatty acids. ALDH3A2 gene mutations disrupt the normal process of fatty acid oxidation. Most mutations result in the production of a FALDH enzyme that is unable to break down fatty aldehyde molecules. As a result, fats that cannot be broken down build up in cells. Within skin cells, excess fat accumulation can interfere with the formation of membranes that act as protective barriers to control water loss. As a result of the loss of these protective barriers, the skin has difficulty maintaining its water balance, resulting in dry, scaly skin. In the brain, the consequences of excess fat accumulation are unclear, but it is likely that an abundance of fat disrupts the formation of myelin. Myelin is the covering that protects nerves and promotes the efficient transmission of nerve impulses. A lack of myelin can lead to neurological problems such as intellectual disability and walking difficulties. The cause of the eye problems is unclear, but it is also likely related to a disruption in the breakdown of fats.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to prevent What I need to know about Gestational Diabetes ?"}, {"role": "assistant", "content": "You can do a lot to prevent or delay type 2 diabetes by making these lifestyle changes:\n \n- Reach and stay at a healthy weight. Try to reach your prepregnancy weight 6 to 12 months after your baby is born. Then, if you still weigh too much, work to lose at least 5 to 7 percent of your body weight and keep it off. For example, if you weigh 200 pounds, losing 10 to 14 pounds can greatly reduce your chance of getting diabetes. - Be physically active for at least 30 minutes most days of the week. - Follow a healthy eating plan. Eat more grains, fruits, and vegetables. Cut down on fat and calories. Your health care team can help you design a meal plan. - Ask your doctor if you should take the diabetes medicine metformin. Metformin can lower your chances of having type 2 diabetes, especially if you are younger and heavier and have prediabetes or if you have had gestational diabetes.\n \nThese changes can help you enjoy a longer, healthier life. Your health care team can give you information and support to help you make these changes.\n \nBy delaying or preventing type 2 diabetes, you will also lower your chances of having heart and blood vessel disease and other problems as you get older.\n \nTalk with your doctor if you are thinking about having another baby. For the safety of your baby, your blood glucose needs to be at healthy levels before you get pregnant again. Your doctor can help ensure you are ready for your next child.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Pericardial Disorders ?"}, {"role": "assistant", "content": "The pericardium is a membrane, or sac, that surrounds your heart. It holds the heart in place and helps it work properly. Problems with the pericardium include - Pericarditis - an inflammation of the sac. It can be from a virus or other infection, a heart attack, heart surgery, other medical conditions, injuries, and certain medicines. - Pericardial effusion - the buildup of fluid in the sac - Cardiac tamponade - a serious problem in which buildup of fluid in the sac causes problems with the function of the heart Symptoms of pericardial problems include chest pain, rapid heartbeat, and difficulty breathing. Fever is a common symptom of acute pericarditis. Your doctor may use a physical exam, imaging tests, and heart tests to make a diagnosis. Treatment depends on the cause. NIH: National Heart, Lung, and Blood Institute", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to prevent Heart Failure ?"}, {"role": "assistant", "content": "Ways to prevent heart failure include - keeping your cholesterol and blood pressure levels healthy - keeping diabetes in check - maintaining a healthy weight - quitting smoking - following a heart healthy diet - limiting the amount of alcohol you drink - eating a diet low in salt because salt can cause extra fluid to build up in your body and also contribute to high blood pressure. Older adults should limit their sodium (salt) intake to1500 mg a day (about 2/3 tsp of salt). - getting regular exercise. Aim for at least 30 minutes a day of exercise. Check with your doctor before starting any exercise program. For information about exercises that older adults can do safely, see Exercises to Try or visit Go4Life, the exercise and physical activity campaign for older adults from the National Institute on Aging. keeping your cholesterol and blood pressure levels healthy keeping diabetes in check maintaining a healthy weight quitting smoking following a heart healthy diet limiting the amount of alcohol you drink eating a diet low in salt because salt can cause extra fluid to build up in your body and also contribute to high blood pressure. Older adults should limit their sodium (salt) intake to1500 mg a day (about 2/3 tsp of salt). getting regular exercise. Aim for at least 30 minutes a day of exercise. Check with your doctor before starting any exercise program. For information about exercises that older adults can do safely, see Exercises to Try or visit Go4Life, the exercise and physical activity campaign for older adults from the National Institute on Aging.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Reardon Wilson Cavanagh syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Reardon Wilson Cavanagh syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Reardon Wilson Cavanagh syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Incoordination 90% Nystagmus 90% Sensorineural hearing impairment 90% Strabismus 90% Abnormality of the palate 50% Aplasia/Hypoplasia of the cerebellum 50% Cerebral cortical atrophy 50% Decreased nerve conduction velocity 50% EMG abnormality 50% Muscular hypotonia 50% Neurological speech impairment 50% Scoliosis 50% Skeletal muscle atrophy 50% Ventriculomegaly 50% Joint hypermobility 7.5% Ataxia - Autosomal recessive inheritance - Intellectual disability - Progressive sensorineural hearing impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to Y chromosome infertility ?"}, {"role": "assistant", "content": "As its name suggests, this form of infertility is caused by changes in the Y chromosome. People normally have 46 chromosomes in each cell. Two of the 46 chromosomes are sex chromosomes, called X and Y. Females have two X chromosomes (46,XX), and males have one X chromosome and one Y chromosome (46,XY). Because only males have the Y chromosome, the genes on this chromosome tend to be involved in male sex determination and development. Y chromosome infertility is usually caused by deletions of genetic material in regions of the Y chromosome called azoospermia factor (AZF) A, B, or C. Genes in these regions are believed to provide instructions for making proteins involved in sperm cell development, although the specific functions of these proteins are not well understood. Deletions in the AZF regions may affect several genes. The missing genetic material likely prevents production of a number of proteins needed for normal sperm cell development, resulting in Y chromosome infertility. In rare cases, changes to a single gene called USP9Y, which is located in the AZFA region of the Y chromosome, can cause Y chromosome infertility. The USP9Y gene provides instructions for making a protein called ubiquitin-specific protease 9. A small number of individuals with Y chromosome infertility have deletions of all or part of the USP9Y gene, while other genes in the AZF regions are unaffected. Deletions in the USP9Y gene prevent the production of ubiquitin-specific protease 9 or result in the production of an abnormally short, nonfunctional protein. The absence of functional ubiquitin-specific protease 9 impairs the production of sperm cells, resulting in Y chromosome infertility.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Partington syndrome ?"}, {"role": "assistant", "content": "What causes Partington syndrome? Partington syndrome is caused by changes (mutations) in the ARX gene, which encodes a protein that regulates the activity of other genes. This protein is particularly important in the developing brain where it plays many roles (i.e. assisting with the movement and communication of neurons). Specific changes in the ARX gene impair the function of the protein, which may disrupt normal neuronal migration. This can lead to the many signs and symptoms associated with Partington syndrome.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Hypoparathyroidism-retardation-dysmorphism syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Hypoparathyroidism-retardation-dysmorphism syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypoparathyroidism-retardation-dysmorphism syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Convex nasal ridge 90% Deeply set eye 90% Delayed skeletal maturation 90% Depressed nasal bridge 90% External ear malformation 90% Frontal bossing 90% High forehead 90% Hyperphosphatemia 90% Hypocalcemia 90% Hypoparathyroidism 90% Intrauterine growth retardation 90% Long philtrum 90% Low-set, posteriorly rotated ears 90% Microcephaly 90% Seizures 90% Short foot 90% Short palm 90% Short stature 90% Thin vermilion border 90% Abnormality of dental enamel 50% Recurrent respiratory infections 50% Aplasia/Hypoplasia affecting the eye 7.5% Astigmatism 7.5% Cellular immunodeficiency 7.5% Cryptorchidism 7.5% Hypoplasia of penis 7.5% Increased bone mineral density 7.5% Intestinal obstruction 7.5% Myopathy 7.5% Opacification of the corneal stroma 7.5% Spinal canal stenosis 7.5% Ventriculomegaly 7.5% Autosomal recessive inheritance - Bifid uvula - Congenital hypoparathyroidism - Hypocalcemic seizures - Intellectual disability - Low-set ears - Micropenis - Patchy osteosclerosis - Posteriorly rotated ears - Postnatal growth retardation - Prominent forehead - Recurrent bacterial infections - Severe intrauterine growth retardation - Small hand - Tetany - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Do you have information about Cervical Cancer Screening"}, {"role": "assistant", "content": "Summary : The cervix is the lower part of the uterus, the place where a baby grows during pregnancy. Cancer screening is looking for cancer before you have any symptoms. Cancer found early may be easier to treat. Cervical cancer screening is usually part of a woman's health checkup. There are two types of tests: the Pap test and the HPV test. For both, the doctor or nurse collects cells from the surface of the cervix. With the Pap test, the lab checks the sample for cancer cells or abnormal cells that could become cancer later. With the HPV test, the lab checks for HPV infection. HPV is a virus that spreads through sexual contact. It can sometimes lead to cancer. If your screening tests are abnormal, your doctor may do more tests, such as a biopsy. Cervical cancer screening has risks. The results can sometimes be wrong, and you may have unnecessary follow-up tests. There are also benefits. Screening has been shown to decrease the number of deaths from cervical cancer. You and your doctor should discuss your risk for cervical cancer, the pros and cons of the screening tests, at what age to start being screened, and how often to be screened.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Dumping Syndrome ?"}, {"role": "assistant", "content": "The GI tract is a series of hollow organs joined in a long, twisting tube from the mouth to the anusthe opening where stool leaves the body. The body digests food using the movement of muscles in the GI tract, along with the release of hormones and enzymes. The upper GI tract includes the mouth, esophagus, stomach, duodenum, and small intestine. The esophagus carries food and liquids from the mouth to the stomach. The stomach slowly pumps the food and liquids into the intestine, which then absorbs needed nutrients. Two digestive organs, the liver and the pancreas, produce digestive juices that reach the small intestine through small tubes called ducts.\n \nThe last part of the GI tractcalled the lower GI tractconsists of the large intestine and anus. The large intestine is about 5 feet long in adults and absorbs water and any remaining nutrients from partially digested food passed from the small intestine. The large intestine then changes waste from liquid to a solid matter called stool. Stool passes from the colon to the rectum. The rectum is located between the last part of the coloncalled the sigmoid colonand the anus. The rectum stores stool prior to a bowel movement. During a bowel movement, stool moves from the rectum to the anus.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Medicare and Continuing Care ?"}, {"role": "assistant", "content": "Medicare Part D helps pay for medications that a doctor may prescribe. This coverage may help lower prescription drug costs. Medicare drug plans are run by insurance companies and other private companies approved by Medicare. A person who joins Original Medicare and who wants prescription drug coverage will need to choose and sign up for a Medicare Prescription Drug plan (PDP). A person who joins one of the Medicare Advantage Plans will automatically receive prescription drug coverage through that plan if it's offered, usually for an extra cost. For more information about Medicare Part D, visit http://www.medicare.gov to get free copies of \"Your Guide to Medicare Prescription Drug Coverage\" and \"Compare Medicare Prescription Drug Plans.\" (Under \"Search Tools,\" select \"Find a Medicare Publication.\") You may also call 1-800-Medicare (1-800-633-4227). TTY users should call 1-877-486-2048.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to Jackson-Weiss syndrome ?"}, {"role": "assistant", "content": "Mutations in the FGFR2 gene cause Jackson-Weiss syndrome. This gene provides instructions for making a protein called fibroblast growth factor receptor 2. Among its multiple functions, this protein signals immature cells to become bone cells during embryonic development. A mutation in a specific part of the FGFR2 gene overstimulates signaling by the FGFR2 protein, which promotes the premature fusion of skull bones and affects the development of bones in the feet.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by juvenile myoclonic epilepsy ?"}, {"role": "assistant", "content": "Juvenile myoclonic epilepsy affects an estimated 1 in 1,000 people worldwide. Approximately 5 percent of people with epilepsy have juvenile myoclonic epilepsy.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Acute febrile neutrophilic dermatosis ?"}, {"role": "assistant", "content": "What causes acute febrile neutrophilic dermatosis? In many cases, the cause of acute febrile neutrophilic dermatosis is unknown (idiopathic). But sometimes, it can be a sign of an immune system response to one of the following: An upper respiratory tract infection, such as a chest infection or strep throat Blood disorders, especially acute myelogenous leukemia, a cancer of the blood and bone marrow Inflammatory bowel disease, such as ulcerative colitis or Crohn's disease Bowel or breast cancer Pregnancy Rheumatoid arthritis An injury at the site where the rash appears, such as an insect bite or needle prick Certain medications, including nonsteroidal anti-inflammatory drugs (NSAIDs)", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Ehlers-Danlos syndrome ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of Ehlers-Danlos syndrome: - Gene Review: Gene Review: Ehlers-Danlos Syndrome, Classic Type - Gene Review: Gene Review: Ehlers-Danlos Syndrome, Hypermobility Type - Gene Review: Gene Review: Ehlers-Danlos Syndrome, Kyphoscoliotic Form - Gene Review: Gene Review: Vascular Ehlers-Danlos Syndrome - Genetic Testing Registry: Ehlers-Danlos syndrome - Genetic Testing Registry: Ehlers-Danlos syndrome, musculocontractural type 2 - Genetic Testing Registry: Ehlers-Danlos syndrome, progeroid type, 2 - Genetic Testing Registry: Ehlers-Danlos syndrome, type 7A - MedlinePlus Encyclopedia: Ehlers-Danlos Syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Familial Periodic Paralyses ?"}, {"role": "assistant", "content": "Familial periodic paralyses are a group of inherited neurological disorders caused by mutations in genes that regulate sodium and calcium channels in nerve cells. They are characterized by episodes in which the affected muscles become slack, weak, and unable to contract. Between attacks, the affected muscles usually work as normal.\n \nThe two most common types of periodic paralyses are: Hypokalemic periodic paralysis is characterized by a fall in potassium levels in the blood. In individuals with this mutation attacks often begin in adolescence and are triggered by strenuous exercise, high carbohydrate meals, or by injection of insulin, glucose, or epinephrine. Weakness may be mild and limited to certain muscle groups, or more severe and affect the arms and legs. Attacks may last for a few hours or persist for several days. Some patients may develop chronic muscle weakness later in life. Hyperkalemic periodic paralysis is characterized by a rise in potassium levels in the blood. Attacks often begin in infancy or early childhood and are precipitated by rest after exercise or by fasting. Attacks are usually shorter, more frequent, and less severe than the hypokalemic form. Muscle spasms are common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by gray platelet syndrome ?"}, {"role": "assistant", "content": "Gray platelet syndrome appears to be a rare disorder. About 60 cases have been reported worldwide.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to spinocerebellar ataxia type 2 ?"}, {"role": "assistant", "content": "Mutations in the ATXN2 gene cause SCA2. The ATXN2 gene provides instructions for making a protein called ataxin-2. This protein is found throughout the body, but its function is unknown. Ataxin-2 is found in the fluid inside cells (cytoplasm), where it appears to interact with a cell structure called the endoplasmic reticulum. The endoplasmic reticulum is involved in protein production, processing, and transport. Researchers believe that ataxin-2 may be involved in processing RNA, a chemical cousin of DNA. Ataxin-2 is also thought to play a role in the production of proteins from RNA (translation of DNA's genetic information). The ATXN2 gene mutations that cause SCA2 involve a DNA segment known as a CAG trinucleotide repeat. This segment is made up of a series of three DNA building blocks (cytosine, adenine, and guanine) that appear multiple times in a row. Normally, the CAG segment is repeated approximately 22 times within the gene, but it can be repeated up to 31 times without causing any health problems. Individuals with 32 or more CAG repeats in the ATXN2 gene develop SCA2. People with 32 or 33 repeats tend to first experience signs and symptoms of SCA2 in late adulthood, while people with more than 45 repeats usually have signs and symptoms by their teens. It is unclear how the abnormally long CAG segment affects the function of the ataxin-2 protein. The abnormal protein apparently leads to cell death, as people with SCA2 show loss of brain cells in different parts of the brain. Over time, the loss of brain cells causes the movement problems characteristic of SCA2.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Cone-rod dystrophy amelogenesis imperfecta ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Cone-rod dystrophy amelogenesis imperfecta? The Human Phenotype Ontology provides the following list of signs and symptoms for Cone-rod dystrophy amelogenesis imperfecta. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of color vision 90% Abnormality of dental color 90% Abnormality of dental enamel 90% Abnormality of retinal pigmentation 90% Nystagmus 90% Photophobia 90% Visual impairment 90% Optic atrophy 50% Amelogenesis imperfecta - Autosomal recessive inheritance - Carious teeth - Cone/cone-rod dystrophy - Monochromacy - Nyctalopia - Optic disc pallor - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Kallmann syndrome inherited ?"}, {"role": "assistant", "content": "Kallmann syndrome 1 (caused by ANOS1 gene mutations) has an X-linked recessive pattern of inheritance. The ANOS1 gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation must be present in both copies of the gene to cause the disorder. Males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. Most cases of Kallmann syndrome 1 are described as simplex, which means only one person in a family is affected. Some affected people inherit a ANOS1 gene mutation from their mothers, who carry a single mutated copy of the gene in each cell. Other people have the condition as a result of a new mutation in the ANOS1 gene. Other forms of Kallmann syndrome can be inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family. In several families, Kallmann syndrome has shown an autosomal recessive pattern of inheritance. Autosomal recessive inheritance means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "how can botulism be prevented?"}, {"role": "assistant", "content": "Many cases of botulism are preventable. Foodborne botulism has often been from home-canned foods with low acid content, such as asparagus, green beans, beets and corn and is caused by failure to follow proper canning methods. However, seemingly unlikely or unusual sources are found every decade, with the common problem of improper handling during manufacture, at retail, or by consumers; some examples are chopped garlic in oil, canned cheese sauce, chile peppers, tomatoes, carrot juice, and baked potatoes wrapped in foil. In Alaska, foodborne botulism is caused by fermented fish and other aquatic game foods. Persons who do home canning should follow strict hygienic procedures to reduce contamination of foods, and carefully follow instructions on safe home canning including the use of pressure canners/cookers as recommended through county extension services or from the US Department of Agriculture. Oils infused with garlic or herbs should be refrigerated. Potatoes which have been baked while wrapped in aluminum foil should be kept hot until served or refrigerated. Because the botulinum toxin is destroyed by high temperatures, persons who eat home-canned foods should consider boiling the food for 10 minutes before eating it to ensure safety. Wound botulism can be prevented by promptly seeking medical care for infected wounds and by not using injectable street drugs. Most infant botulism cases cannot be prevented because the bacteria that causes this disease is in soil and dust. The bacteria can be found inside homes on floors, carpet, and countertops even after cleaning. Honey can contain the bacteria that causes infant botulism so, children less than 12 months old should not be fed honey. Honey is safe for persons 1 year of age and older.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Parasites - Toxoplasmosis (Toxoplasma infection) ?"}, {"role": "assistant", "content": "Healthy people (nonpregnant)\n \nMost healthy people recover from toxoplasmosis without treatment. Persons who are ill can be treated with a combination of drugs such as pyrimethamine and sulfadiazine, plus folinic acid.\n \n \n Pregnant women, newborns, and infants\n \nPregnant women, newborns, and infants can be treated, although the parasite is not eliminated completely. The parasites can remain within tissue cells in a less active phase; their location makes it difficult for the medication to completely eliminate them.\n \n \n Persons with ocular disease\n \nPersons with ocular toxoplasmosis are sometimes prescribed medicine to treat active disease by their ophthalmologist. Whether or not medication is recommended depends on the size of the eye lesion, the location, and the characteristics of the lesion (acute active, versus chronic not progressing).\n \n \n Persons with compromised immune systems\n \nPersons with compromised immune systems need to be treated until they have improvement in their condition. For AIDS patients, continuation of medication for the rest of their lives may be necessary, or for as long as they are immunosuppressed.\n \nMore on: Resources for Health Professionals: Treatment", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Laryngeal cleft ?"}, {"role": "assistant", "content": "How might laryngeal cleft be treated? Medical and feeding therapies are often the first treatments for patients with laryngeal cleft (particularly type I and type II).[4126] Prevention of gastroesophageal reflux is also important in all types of clefts. Type I clefts often correct themselves over time with growth. During infancy, nursing in the upright position or thickening of formula may be necessary. If these treatments are not enough, surgery may be recommended. Different surgical approaches have been proposed for the management of laryngeal cleft. The timing and approach of surgery may differ depending upon the severity of symptoms, associated abnormalities, and type of cleft.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to prevent Diabetes ?"}, {"role": "assistant", "content": "The two most common forms of diabetes are type 1 and type 2. Currently, there is no way to delay or prevent type 1 diabetes. However, research has shown that making modest lifestyle changes can prevent or delay type 2 diabetes in people at risk for the disease. In the Diabetes Prevention Program (DPP), a landmark study by the National Institute of Diabetes and Digestive and Kidney Diseases, researchers found that adults at high risk for type 2 diabetes were able to cut their risk in half by losing a modest amount of weight and being active almost every day. This means losing 5 to 7 percent of body weight (that's 10 pounds if you weigh 200 pounds) and getting 150 minutes of physical activity a week. The DPP study also showed that modest weight loss (achieved by following a low calorie, low-fat diet) and moderate physical activity were especially effective in preventing or delaying the development of diabetes in older people. In fact, people over the age of 60 were able to reduce their risk for developing type 2 diabetes by 71 percent. (Watch the video to learn more about preventing type 2 diabetes. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.)", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to permanent neonatal diabetes mellitus ?"}, {"role": "assistant", "content": "Permanent neonatal diabetes mellitus may be caused by mutations in several genes. About 30 percent of individuals with permanent neonatal diabetes mellitus have mutations in the KCNJ11 gene. An additional 20 percent of people with permanent neonatal diabetes mellitus have mutations in the ABCC8 gene. These genes provide instructions for making parts (subunits) of the ATP-sensitive potassium (K-ATP) channel. Each K-ATP channel consists of eight subunits, four produced from the KCNJ11 gene and four from the ABCC8 gene. K-ATP channels are found across cell membranes in the insulin-secreting beta cells of the pancreas. These channels open and close in response to the amount of glucose in the bloodstream. Closure of the channels in response to increased glucose triggers the release of insulin out of beta cells and into the bloodstream, which helps control blood sugar levels. Mutations in the KCNJ11 or ABCC8 gene that cause permanent neonatal diabetes mellitus result in K-ATP channels that do not close, leading to reduced insulin secretion from beta cells and impaired blood sugar control. Mutations in the INS gene, which provides instructions for making insulin, have been identified in about 20 percent of individuals with permanent neonatal diabetes mellitus. Insulin is produced in a precursor form called proinsulin, which consists of a single chain of protein building blocks (amino acids). The proinsulin chain is cut (cleaved) to form individual pieces called the A and B chains, which are joined together by connections called disulfide bonds to form insulin. Mutations in the INS gene are believed to disrupt the cleavage of the proinsulin chain or the binding of the A and B chains to form insulin, leading to impaired blood sugar control. Permanent neonatal diabetes mellitus can also be caused by mutations in other genes, some of which have not been identified.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is trimethylaminuria inherited ?"}, {"role": "assistant", "content": "Most cases of trimethylaminuria appear to be inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but typically do not show signs and symptoms of the condition. Carriers of an FMO3 mutation, however, may have mild symptoms of trimethylaminuria or experience temporary episodes of strong body odor.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy ?"}, {"role": "assistant", "content": "Mutations in the TREM2 gene or the TYROBP gene (also called DAP12) can cause PLOSL. The proteins produced from these two genes work together to activate certain kinds of cells. These proteins appear to be particularly important in osteoclasts, which are specialized cells that break down and remove (resorb) bone tissue that is no longer needed. These cells are involved in bone remodeling, which is a normal process that replaces old bone tissue with new bone. The TREM2 and TYROBP proteins are also critical for the normal function of microglia, which are a type of immune cell in the brain and spinal cord (central nervous system). Although these proteins play essential roles in osteoclasts and microglia, their exact function in these cells is unclear. Mutations in the TREM2 or TYROBP gene disrupt normal bone growth and lead to progressive brain abnormalities in people with PLOSL. Researchers believe that the bone changes seen with this disorder are related to malfunctioning osteoclasts, which are less able to resorb bone tissue during bone remodeling. In the central nervous system, TREM2 or TYROBP mutations cause widespread abnormalities of microglia. Researchers are working to determine how these abnormalities lead to the progressive neurological problems associated with PLOSL.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Laryngeal Cancer ?"}, {"role": "assistant", "content": "Key Points\n - Laryngeal cancer is a disease in which malignant (cancer) cells form in the tissues of the larynx. - Use of tobacco products and drinking too much alcohol can affect the risk of laryngeal cancer. - Signs and symptoms of laryngeal cancer include a sore throat and ear pain. - Tests that examine the throat and neck are used to help detect (find), diagnose, and stage laryngeal cancer. - Certain factors affect prognosis (chance of recovery) and treatment options.\n \n \n Laryngeal cancer is a disease in which malignant (cancer) cells form in the tissues of the larynx.\n The larynx is a part of the throat, between the base of the tongue and the trachea. The larynx contains the vocal cords, which vibrate and make sound when air is directed against them. The sound echoes through the pharynx, mouth, and nose to make a person's voice. There are three main parts of the larynx: - Supraglottis: The upper part of the larynx above the vocal cords, including the epiglottis. - Glottis: The middle part of the larynx where the vocal cords are located. - Subglottis: The lower part of the larynx between the vocal cords and the trachea (windpipe). Most laryngeal cancers form in squamous cells, the thin, flat cells lining the inside of the larynx. Laryngeal cancer is a type of head and neck cancer.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Cerebellar degeneration ?"}, {"role": "assistant", "content": "What causes cerebellar degeneration? Cerebellar degeneration can be caused by a variety of different conditions. Neurological diseases that can lead to cerebellar degeneration include: Acute and hemorrhagic stroke can result in a lack of blood flow or oxygen to the brain, leading to the death of neurons in the cerebellum and other brain structures. Cerebellar cortical atrophy, multisystem atrophy and olivopontocerebellar degeneration are progressive degenerative disorders that affect various parts of the nervous system, including the cerebellum. Spinocerebellar ataxias, including Friedreich ataxia, are caused by inherited changes (mutations) in many different genes and are characterized by cell death in the cerebellum, brain stem, and spinal cord. Transmissible spongiform encephalopathies (such as 'Mad Cow Disease' and Creutzfeldt-Jakob disease) are associated with inflammation of the brain, particularly in the cerebellum, that is caused by abnormal proteins. Multiple sclerosis occurs when the insulating membrane (myelin) that wraps around and protects nerve cells (including those of the cerebellum) become damaged. Other conditions that can lead to temporary or permanent cerebellar damage include chronic alcohol abuse and paraneoplastic disorders.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to prevent Am I at Risk for Type 2 Diabetes? Taking Steps to Lower Your Risk of Getting Diabetes ?"}, {"role": "assistant", "content": "Yes. The results of the Diabetes Prevention Program (DPP) proved that weight loss through moderate diet changes and physical activity can delay or prevent type 2 diabetes. The DPP was a federally funded study of 3,234 people at high risk for diabetes. This study showed that a 5-to 7-percent weight loss, which for a 200-pound person would be 10 to 14 pounds, slowed development of type 2 diabetes.\n \nPeople at High Risk for Diabetes\n \nDPP study participants were overweight and had higher than normal levels of blood glucose, a condition called prediabetes. Many had family members with type 2 diabetes. Prediabetes, obesity, and a family history of diabetes are strong risk factors for type 2 diabetes. About half of the DPP participants were from minority groups with high rates of diabetes, including African Americans, Alaska Natives, American Indians, Asian Americans, Hispanics/Latinos, and Pacific Islander Americans.\n \nDPP participants also included others at high risk for developing type 2 diabetes, such as women with a history of gestational diabetes and people age 60 and older.\n \nApproaches to Preventing Diabetes\n \nThe DPP tested three approaches to preventing diabetes:\n \n- Making lifestyle changes. People in the lifestyle change group exercised, usually by walking 5 days a week for about 30 minutes a day, and lowered their intake of fat and calories. - Taking the diabetes medicine metformin. Those who took metformin also received information about physical activity and diet. - Receiving education about diabetes. The third group only received information about physical activity and diet and took a placeboa pill without medicine in it.\n \nPeople in the lifestyle change group showed the best outcomes. But people who took metformin also benefited. The results showed that by losing an average of 15 pounds in the first year of the study, people in the lifestyle change group reduced their risk of developing type 2 diabetes by 58 percent over 3 years. Lifestyle change was even more effective in those age 60 and older. People in this group reduced their risk by 71 percent. But people in the metformin group also benefited, reducing their risk by 31 percent. More information about the DPP, funded under National Institutes of Health (NIH) clinical trial number NCT00004992, is available at www.bsc.gwu.edu/dpp.\n \nLasting Results\n \nThe Diabetes Prevention Program Outcomes Study (DPPOS) has shown that the benefits of weight loss and metformin last for at least 10 years. The DPPOS has continued to follow most DPP participants since the DPP ended in 2001. The DPPOS showed that 10 years after enrolling in the DPP,\n \n- people in the lifestyle change group reduced their risk for developing diabetes by 34 percent - those in the lifestyle change group age 60 or older had even greater benefit, reducing their risk of developing diabetes by 49 percent - participants in the lifestyle change group also had fewer heart and blood vessel disease risk factors, including lower blood pressure and triglyceride levels, even though they took fewer medicines to control their heart disease risk - the metformin group reduced the risk of developing diabetes by 18 percent\n \nEven though controlling your weight with lifestyle changes is challenging, it produces long-term health rewards by lowering your risk for type 2 diabetes, lowering your blood glucose levels, and reducing other heart disease risk factors. More information about the DPPOS, funded under NIH clinical trial number NCT00038727, can be found at www.bsc.gwu.edu/dpp.\n \n\n \nOther Types of Diabetes In addition to type 2, the other main types of diabetes are type 1 diabetes and gestational diabetes. Type 1 Diabetes Type 1 diabetes, formerly called juvenile diabetes, is usually first diagnosed in children, teenagers, and young adults. In this type of diabetes, your pancreas can no longer make insulin because your bodys immune system has attacked and destroyed the cells that make it. Treatment for type 1 diabetes includes taking insulin shots or using an insulin pump, making wise food choices, being physically active on a regular basis, controlling blood pressure and cholesterol, and, for some, taking aspirin daily. Gestational Diabetes Gestational diabetes is a type of diabetes that develops only during pregnancy. Hormones produced by your placenta and other pregnancy-related factors contribute to insulin resistance, which occurs in all women during late pregnancy. Insulin resistance increases the amount of insulin needed to control blood glucose levels. If your pancreas cant produce enough insulin, gestational diabetes occurs. As with type 2 diabetes, excess weight is linked to gestational diabetes. Overweight or obese women are at particularly high risk for gestational diabetes because they start pregnancy with a higher need for insulin due to insulin resistance. Excessive weight gain during pregnancy may also increase risk. Gestational diabetes occurs more often in some ethnic groups and among women with a family history of diabetes. Although gestational diabetes usually goes away after the baby is born, a woman who has had gestational diabetes is more likely to develop type 2 diabetes later in life. Babies born to mothers who had gestational diabetes are also more likely to develop obesity and type 2 diabetes as they grow up.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Cardiogenic Shock ?"}, {"role": "assistant", "content": "Cardiogenic shock is life threatening and requires emergency medical treatment. The condition usually is diagnosed after a person has been admitted to a hospital for a heart attack. If the person isn't already in a hospital, emergency treatment can start as soon as medical personnel arrive.\n \nThe first goal of emergency treatment for cardiogenic shock is to improve the flow of blood and oxygen to the bodys organs.\n \nSometimes both the shock and its cause are treated at the same time. For example, doctors may quickly open a blocked blood vessel that's damaging the heart. Often, this can get the patient out of shock with little or no additional treatment.\n \nEmergency Life Support\n \nEmergency life support treatment is needed for any type of shock. This treatment helps get oxygen-rich blood flowing to the brain, kidneys, and other organs.\n \nRestoring blood flow to the organs keeps the patient alive and may prevent long-term damage to the organs. Emergency life support treatment includes:\n \nGiving the patient extra oxygen to breathe so that more oxygen reaches the lungs, the heart, and the rest of the body.\n \nProviding breathing support if needed. A ventilator might be used to protect the airway and provide the patient with extra oxygen. A ventilator is a machine that supports breathing.\n \nGiving the patient fluids, including blood and blood products, through a needle inserted in a vein (when the shock is due to blood loss). This can help get more blood to major organs and the rest of the body. This treatment usually isnt used for cardiogenic shock because the heart can't pump the blood that's already in the body. Also, too much fluid is in the lungs, making it hard to breathe.\n \nMedicines\n \nDuring and after emergency life support treatment, doctors will try to find out whats causing the shock. If the reason for the shock is that the heart isn't pumping strongly enough, then the diagnosis is cardiogenic shock.\n \nTreatment for cardiogenic shock will depend on its cause. Doctors may prescribe medicines to:\n \nPrevent blood clots from forming\n \nIncrease the force with which the heart muscle contracts\n \nTreat a heart attack\n \nMedical Devices\n \nMedical devices can help the heart pump and improve blood flow. Devices used to treat cardiogenic shock may include:\n \nAn intra-aortic balloon pump. This device is placed in the aorta, the main blood vessel that carries blood from the heart to the body. A balloon at the tip of the device is inflated and deflated in a rhythm that matches the hearts pumping rhythm. This allows the weakened heart muscle to pump as much blood as it can, which helps get more blood to vital organs, such as the brain and kidneys.\n \nA left ventricular assist device (LVAD). This device is a battery-operated pump that takes over part of the hearts pumping action. An LVAD helps the heart pump blood to the body. This device may be used if damage to the left ventricle, the hearts main pumping chamber, is causing shock.\n \nMedical Procedures and Surgery\n \nSometimes medicines and medical devices aren't enough to treat cardiogenic shock.\n \nMedical procedures and surgery can restore blood flow to the heart and the rest of the body, repair heart damage, and help keep a patient alive while he or she recovers from shock.\n \nSurgery also can improve the chances of long-term survival. Surgery done within 6 hours of the onset of shock symptoms has the greatest chance of improving survival.\n \nThe types of procedures and surgery used to treat underlying causes of cardiogenic shock include:\n \nPercutaneous coronary intervention (PCI) and stents. PCI,also known as coronary angioplasty,is a procedure used to open narrowed or blocked coronary (heart) arteries and treat an ongoing heart attack. A stent is a small mesh tube that's placed in a coronary artery during PCI to help keep it open.\n \nCoronary artery bypass grafting. For this surgery, arteries or veins from other parts of the body are used to bypass (that is, go around) narrowed coronary arteries. This creates a new passage for oxygen-rich blood to reach the heart.\n \nSurgery to repair damaged heart valves.\n \nSurgery to repair a break in the wall that separates the hearts chambers. This break is called a septal rupture.\n \nHeart transplant. This type of surgery rarely is done during an emergency situation like cardiogenic shock because of other available options. Also, doctors need to do very careful testing to make sure a patient will benefit from a heart transplant and to find a matching heart from a donor. Still, in some cases, doctors may recommend a transplant if they feel it's the best way to improve a patient's chances of long-term survival.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Viral Hepatitis: A through E and Beyond ?"}, {"role": "assistant", "content": "Viral hepatitis is inflammation of the liver caused by a virus. Several different viruses, named the hepatitis A, B, C, D, and E viruses, cause viral hepatitis.\n \nAll of these viruses cause acute, or short-term, viral hepatitis. The hepatitis B, C, and D viruses can also cause chronic hepatitis, in which the infection is prolonged, sometimes lifelong. Chronic hepatitis can lead to cirrhosis, liver failure, and liver cancer.\n \nResearchers are looking for other viruses that may cause hepatitis, but none have been identified with certainty. Other viruses that less often affect the liver include cytomegalovirus; Epstein-Barr virus, also called infectious mononucleosis; herpesvirus; parvovirus; and adenovirus.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Knee Replacement ?"}, {"role": "assistant", "content": "You can learn more about knee replacement from the following resources. National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) Information Clearinghouse National Institutes of Health 1 AMS Circle Bethesda, MD 20892-3675 Phone: 301-495-4484 Toll Free: 877-22-NIAMS (226-4267) TTY: 301-565-2966 Fax: 301-718-6366 Email: NIAMSinfo@mail.nih.gov Website: http://www.niams.nih.gov American Physical Therapy Association Website: http://www.apta.org Arthritis Foundation Website: http://www.arthritis.org The Knee Society Website: http://www.kneesociety.org MedlinePlus Website: http://www.nlm.nih.gov/medlineplus/kneereplacement.html", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by Feingold syndrome ?"}, {"role": "assistant", "content": "Feingold syndrome appears to be a rare condition, although its exact prevalence is unknown.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Autoimmune atrophic gastritis ?"}, {"role": "assistant", "content": "How might autoimmune atrophic gastritis be treated? The treatment of autoimmune atrophic gastritis is generally focused on preventing and/or alleviating signs and symptoms of the condition. For example, management is focused on preventing vitamin B12, folate and iron deficiencies in the early stages of the condition. With adequate supplementation of these vitamins and minerals, anemia and other health problems may be avoided. If pernicious anemia is already present at the time of diagnosis, replacement of vitamin B12 is generally recommended via injections. In some cases, endoscopic surveillance may also be recommended due to the increased risk of certain types of cancer. While surgery may be appropriate for the treatment of related cancers, we are not aware of surgical management options or recommendations otherwise. Symptoms of gastritis in general may be managed with prescription or over-the-counter medications (besides antibiotics for H. pylori-associated gastritis) that block or reduce acid production and promote healing. Proton pump inhibitors reduce acid by blocking the action of the parts of cells that produce acid. Examples may include omeprazole, lansoprazole, rabeprazole, esomeprazole, dexlansoprazole and pantoprazole. Histamine (H-2) blockers reduce the amount of acid released into the digestive tract, which relieves gastritis pain and promotes healing. Examples include ranitidine, famotidine, cimetidine and nizatidine. Antacids that neutralize stomach acid and provide pain relief may also be used. We are not aware of dietary guidelines or recommendations for autoimmune atrophic gastritis. Much of the literature on dietary management of gastritis is specific to H. Pylori-associated gastritis. However, people with gastritis in general may find some relief by eating smaller, more-frequent meals; avoiding irritating foods; avoiding alcohol; switching pain relievers; and managing stress.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Do you have information about Germs and Hygiene"}, {"role": "assistant", "content": "Summary : When you cough or sneeze, you send tiny germ-filled droplets into the air. Colds and flu usually spread that way. You can help stop the spread of germs by - Covering your mouth and nose when you sneeze or cough. Sneeze or cough into your elbow, not your hands. - Cleaning your hands often - always before you eat or prepare food, and after you use the bathroom or change a diaper - Avoiding touching your eyes, nose or mouth Hand washing is one of the most effective and most overlooked ways to stop disease. Soap and water work well to kill germs. Wash for at least 20 seconds and rub your hands briskly. Disposable hand wipes or gel sanitizers also work well.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is rippling muscle disease inherited ?"}, {"role": "assistant", "content": "Rippling muscle disease is usually inherited in an autosomal dominant pattern, but it is occasionally inherited in an autosomal recessive pattern. Autosomal dominant inheritance means that one copy of an altered CAV3 gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with rippling muscle disease or another caveolinopathy. Rare cases result from new mutations in the gene and occur in people with no history of caveolinopathies in their family. Autosomal recessive inheritance means that both copies of the CAV3 gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. People with autosomal recessive rippling muscle disease generally have more severe signs and symptoms than do people with the autosomal dominant form.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) surfactant dysfunction ?"}, {"role": "assistant", "content": "Surfactant dysfunction is a lung disorder that causes breathing problems. This condition results from abnormalities in the composition or function of surfactant, a mixture of certain fats (called phospholipids) and proteins that lines the lung tissue and makes breathing easy. Without normal surfactant, the tissue surrounding the air sacs in the lungs (the alveoli) sticks together (because of a force called surface tension) after exhalation, causing the alveoli to collapse. As a result, filling the lungs with air on each breath becomes very difficult, and the delivery of oxygen to the body is impaired. The signs and symptoms of surfactant dysfunction can vary in severity. The most severe form of this condition causes respiratory distress syndrome in newborns. Affected babies have extreme difficulty breathing and are unable to get enough oxygen. The lack of oxygen can damage the baby's brain and other organs. This syndrome leads to respiratory failure, and most babies with this form of the condition do not survive more than a few months. Less severe forms of surfactant dysfunction cause gradual onset of breathing problems in children or adults. Signs and symptoms of these milder forms are abnormally rapid breathing (tachypnea); low concentrations of oxygen in the blood (hypoxemia); and an inability to grow or gain weight at the expected rate (failure to thrive). There are several types of surfactant dysfunction, which are identified by the genetic cause of the condition. One type, called SP-B deficiency, causes respiratory distress syndrome in newborns. Other types, known as SP-C dysfunction and ABCA3 deficiency, have signs and symptoms that range from mild to severe.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to prevent Thrombocytopenia ?"}, {"role": "assistant", "content": "Whether you can prevent thrombocytopenia depends on its specific cause. Usually the condition can't be prevented. However, you can take steps to prevent health problems associated with thrombocytopenia. For example:\n \nAvoid heavy drinking. Alcohol slows the production of platelets.\n \nTry to avoid contact with toxic chemicals. Chemicals such as pesticides, arsenic, and benzene can slow the production of platelets.\n \nAvoid medicines that you know have decreased your platelet count in the past.\n \nBe aware of medicines that may affect your platelets and raise your risk of bleeding. Two examples of such medicines are aspirin and ibuprofen. These medicines may thin your blood too much.\n \nTalk with your doctor about getting vaccinated for viruses that can affect your platelets. You may need vaccines for mumps, measles, rubella, and chickenpox. You may want to have your child vaccinated for these viruses as well. Talk with your child's doctor about these vaccines.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to microphthalmia with linear skin defects syndrome ?"}, {"role": "assistant", "content": "Mutations in the HCCS gene or a deletion of genetic material that includes the HCCS gene cause microphthalmia with linear skin defects syndrome. The HCCS gene carries instructions for producing an enzyme called holocytochrome c-type synthase. This enzyme is active in many tissues of the body and is found in the mitochondria, the energy-producing centers within cells. Within the mitochondria, the holocytochrome c-type synthase enzyme helps produce a molecule called cytochrome c. Cytochrome c is involved in a process called oxidative phosphorylation, by which mitochondria generate adenosine triphosphate (ATP), the cell's main energy source. It also plays a role in the self-destruction of cells (apoptosis). HCCS gene mutations result in a holocytochrome c-type synthase enzyme that cannot perform its function. A deletion of genetic material that includes the HCCS gene prevents the production of the enzyme. A lack of functional holocytochrome c-type synthase enzyme can damage cells by impairing their ability to generate energy. In addition, without the holocytochrome c-type synthase enzyme, the damaged cells may not be able to undergo apoptosis. These cells may instead die in a process called necrosis that causes inflammation and damages neighboring cells. During early development this spreading cell damage may lead to the eye abnormalities and other signs and symptoms of microphthalmia with linear skin defects syndrome.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for progressive external ophthalmoplegia ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of progressive external ophthalmoplegia: - Gene Review: Gene Review: Mitochondrial DNA Deletion Syndromes - Gene Review: Gene Review: POLG-Related Disorders - Genetic Testing Registry: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 - Genetic Testing Registry: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 - Genetic Testing Registry: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 - Genetic Testing Registry: Progressive external ophthalmoplegia - United Mitochondrial Disease Foundation: Diagnosis of Mitochondrial Disease These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by spinocerebellar ataxia type 3 ?"}, {"role": "assistant", "content": "The prevalence of SCA3 is unknown. This condition is thought to be the most common type of spinocerebellar ataxia; however, all types of spinocerebellar ataxia are relatively rare.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for spastic paraplegia type 4 ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of spastic paraplegia type 4: - Gene Review: Gene Review: Hereditary Spastic Paraplegia Overview - Gene Review: Gene Review: Spastic Paraplegia 4 - Genetic Testing Registry: Spastic paraplegia 4, autosomal dominant - Spastic Paraplegia Foundation, Inc.: Treatments and Therapies These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Pneumonia ?"}, {"role": "assistant", "content": "Pneumonia is an infection in one or both of the lungs. Many germs, such as bacteria, viruses, and fungi, can cause pneumonia. You can also get pneumonia by inhaling a liquid or chemical. People most at risk are older than 65 or younger than 2 years of age, or already have health problems. Symptoms of pneumonia vary from mild to severe. See your doctor promptly if you - Have a high fever - Have shaking chills - Have a cough with phlegm that doesn't improve or gets worse - Develop shortness of breath with normal daily activities - Have chest pain when you breathe or cough - Feel suddenly worse after a cold or the flu Your doctor will use your medical history, a physical exam, and lab tests to diagnose pneumonia. Treatment depends on what kind you have. If bacteria are the cause, antibiotics should help. If you have viral pneumonia, your doctor may prescribe an antiviral medicine to treat it. Preventing pneumonia is always better than treating it. Vaccines are available to prevent pneumococcal pneumonia and the flu. Other preventive measures include washing your hands frequently and not smoking. NIH: National Heart, Lung, and Blood Institute", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Diabetic Retinopathy ?"}, {"role": "assistant", "content": "Preventing Disease Progression During the first three stages of diabetic retinopathy, no treatment is needed, unless you have macular edema. To prevent progression of diabetic retinopathy, people with diabetes should control their levels of blood sugar, blood pressure, and blood cholesterol. Treatment for Macular Edema Research found that that prompt treatment of macular edema with anti-VEGF drugs, with or without laser treatment, resulted in better vision than laser treatment alone or steroid injections. When injected into the eye, these drugs reduce fluid leakage and interfere with the growth of new blood vessels in the retina. In some cases, focal laser treatment is used along with the eye injections. Your doctor places up to several hundred small laser burns in the areas of the retina around the macula that are leaking. These burns slow the leakage of fluid and reduce the amount of fluid in the retina. The surgery is usually completed in one session. Further treatment may be needed. Treatment for Diabetic Retinopathy Proliferative retinopathy is treated with laser surgery. This procedure is called scatter laser treatment. Scatter laser treatment helps to shrink the abnormal blood vessels. Your doctor places 1,000 to 2,000 laser burns in the areas of the retina away from the macula, causing the abnormal blood vessels to shrink. Because a high number of laser burns are necessary, two or more sessions usually are required to complete treatment. Although you may notice some loss of your side vision, scatter laser treatment can save the rest of your sight. Scatter laser treatment may slightly reduce your color vision and night vision. Scatter laser treatment works better before the fragile, new blood vessels have started to bleed. That is why it is important to have regular, comprehensive dilated eye exams. Even if bleeding has started, scatter laser treatment may still be possible, depending on the amount of bleeding. Learn more about laser treatment. Vitrectomy If the bleeding is severe, you may need a surgical procedure called a vitrectomy. During a vitrectomy, blood is removed from the center of your eye. Scatter laser treatment and vitrectomy are effective in treating proliferative retinopathy and in reducing vision loss. Once you have proliferative retinopathy, you always will be at risk for new bleeding. You may need treatment more than once to protect your sight. Learn more about a vitrectomy. Have Dilated Eye Exams The National Eye Institute (NEI) urges everyone with diabetes to have a comprehensive dilated eye exam at least once a year. If you have diabetic retinopathy, you may need an exam more often. People with proliferative retinopathy can reduce their risk of blindness by 95 percent with timely treatment and appropriate follow-up care. Watch an animation to see what a comprehensive dilated eye exam includes. Research The National Eye Institute, or NEI, is conducting and supporting research that seeks better ways to detect, treat, and prevent vision loss in people with diabetes. This research is conducted through studies in the laboratory and with patients. For example, researchers are studying drugs for the treatment of proliferative retinopathy that may reduce the need for laser surgery. A major study has shown that better control of blood sugar levels slows the onset and progression of retinopathy. The people with diabetes who kept their blood sugar levels as close to normal as possible also had much less kidney and nerve disease. Better control also reduces the need for sight-saving laser surgery.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) What I need to know about Hirschsprung Disease ?"}, {"role": "assistant", "content": "Hirschsprung* disease (HD) is a disease of the large intestine that causes severe constipation or intestinal obstruction. Constipation means stool moves through the intestines slower than usual. Bowel movements occur less often than normal and stools are difficult to pass. Some children with HD cant pass stool at all, which can result in the complete blockage of the intestines, a condition called intestinal obstruction. People with HD are born with it and are usually diagnosed when they are infants. Less severe cases are sometimes diagnosed when a child is older. An HD diagnosis in an adult is rare.\n \n*See Pronunciation Guide for tips on how to say the words in bold type.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is the outlook for Syncope ?"}, {"role": "assistant", "content": "Syncope is a dramatic event and can be life-threatening if not treated properly. Generally, however, people recover completely within minutes to hours. If syncope is symptomatic of an underlying condition, then the prognosis will reflect the course of the disorder.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Adrenal Insufficiency and Addison's Disease ?"}, {"role": "assistant", "content": "Adrenal crisis is treated with adrenal hormones. People with adrenal crisis need immediate treatment. Any delay can cause death. When people with adrenal crisis are vomiting or unconscious and cannot take their medication, the hormones can be given as an injection.\n \nA person with adrenal insufficiency should carry a corticosteroid injection at all times and make sure that others know how and when to administer the injection, in case the person becomes unconscious.\n \nThe dose of corticosteroid needed may vary with a persons age or size. For example, a child younger than 2 years of age can receive 25 milligrams (mg), a child between 2 and 8 years of age can receive 50 mg, and a child older than 8 years should receive the adult dose of 100 mg.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for High Blood Pressure ?"}, {"role": "assistant", "content": "Based on your diagnosis, health care providers develop treatment plans for high blood pressure that include lifelong lifestyle changes and medicines to control high blood pressure; lifestyle changes such as weight loss can be highly effective in treating high blood pressure.\n \n\n \nTreatment Plans\n \nHealth care providers work with you to develop a treatment plan based on whether you were diagnosed with primary or secondary high blood pressure and if there is a suspected or known cause. Treatment plans may evolve until blood pressure control is achieved.\n \nIf your health care provider diagnoses you with secondary high blood pressure, he or she will work to treat the other condition or change the medicine suspected of causing your high blood pressure. If high blood pressure persists or is first diagnosed as primary high blood pressure, your treatment plan will include lifestyle changes. When lifestyle changes alone do not control or lower blood pressure, your health care provider may change or update your treatment plan by prescribing medicines to treat the disease. Health care providers prescribe children and teens medicines at special doses that are safe and effective in children.\n \nIf your health care provider prescribes medicines as a part of your treatment plan, keep up your healthy lifestyle habits. The combination of the medicines and the healthy lifestyle habits helps control and lower your high blood pressure.\n \nSome people develop resistant or uncontrolled high blood pressure. This can happen when the medications they are taking do not work well for them or another medical condition is leading to uncontrolled blood pressure. Health care providers treat resistant or uncontrolled high blood pressure with an intensive treatment plan that can include a different set of blood pressure medications or other special treatments.\n \nTo achieve the best control of your blood pressure, follow your treatment plan and take all medications as prescribed. Following your prescribed treatment plan is important because it can prevent or delay complications that high blood pressure can cause and can lower your risk for other related problems.\n \n\n \nHealthy Lifestyle Changes\n \nHealthy lifestyle habits can help you control high blood pressure. These habits include:\n \nHealthy eating\n \nBeing physically active\n \nMaintaining a healthy weight\n \nLimiting alcohol intake\n \nManaging and coping with stress\n \nTo help make lifelong lifestyle changes, try making one healthy lifestyle change at a time and add another change when you feel that you have successfully adopted the earlier changes. When you practice several healthy lifestyle habits, you are more likely to lower your blood pressure and maintain normal blood pressure readings.\n \n\n \nHealthy Eating\n \nTo help treat high blood pressure, health care providers recommend that you limit sodium and salt intake, increase potassium, and eat foods that are heart healthy.\n \nLimiting Sodium and Salt\n \nA low-sodium diet can help you manage your blood pressure. You should try to limit the amount of sodium that you eat. This means choosing and preparing foods that are lower in salt and sodium. Try to use low-sodium and no added salt foods and seasonings at the table or while cooking. Food labels tell you what you need to know about choosing foods that are lower in sodium. Try to eat no more than 2,300 mg sodium a day. If you have high blood pressure, you may need to restrict your sodium intake even more.\n \nYour health care provider may recommend the Dietary Approaches to Stop Hypertension (DASH) eating plan if you have high blood pressure. The DASH eating plan focuses on fruits, vegetables, whole grains, and other foods that are heart healthy and low in fat, cholesterol, and salt.\n \nThe DASH eating plan is a good heart-healthy eating plan, even for those who dont have high blood pressure. Read more about the DASH eating plan.\n \nHeart-Healthy Eating\n \nYour health care provider also may recommend heart-healthy eating, which should include:\n \nWhole grains\n \nFruits, such as apples, bananas, oranges, pears, and prunes\n \nVegetables, such as broccoli, cabbage, and carrots\n \nLegumes, such as kidney beans, lentils, chick peas, black-eyed peas, and lima beans\n \nFat-free or low-fat dairy products, such as skim milk\n \nFish high in omega-3 fatty acids, such as salmon, tuna, and trout, about twice a week\n \nWhen following a heart-healthy diet, you should avoid eating:\n \nA lot of red meat\n \nPalm and coconut oils\n \nSugary foods and beverages\n \nIn the National Heart, Lung, and Blood Institute (NHLBI)-sponsored Hispanic Community Health Study/Study of Latinos, which studied Hispanics living in the United States, Cubans ate more sodium and Mexicans ate less sodium than other Hispanic groups in the study. All Hispanic Americans should follow these healthy eating recommendations even when cooking traditional Latino dishes. Try some of these popular Hispanic American heart-healthy recipes.\n \n\n \nBeing Physically Active\n \nRoutine physical activity can lower high blood pressure and reduce your risk for other health problems. Talk with your health care provider before you start a new exercise plan. Ask him or her how much and what kinds of physical activity are safe for you.\n \nEveryone should try to participate in moderate-intensity aerobic exercise at least 2 hours and 30minutes per week, or vigorous-intensity aerobic exercise for 1 hour and 15 minutes per week. Aerobic exercise, such as brisk walking, is any exercise in which your heart beats harder and you use more oxygen than usual. The more active you are, the more you will benefit. Participate in aerobic exercise for at least 10 minutes at a time, spread throughout the week.\n \nRead more about physical activity:\n \nPhysical Activity and Your Heart\n \nU.S. Department of Health and Human Services'2008 Physical Activity Guidelines for Americans\n \n\n \nMaintaining a Healthy Weight\n \nMaintaining a healthy weight can help you control high blood pressure and reduce your risk for other health problems. If youre overweight or obese, try to lose weight. A loss of just 3 to 5 percent can lower your risk for health problems. Greater amounts of weight loss can improve blood pressure readings, lowerLDL cholesterol, and increase HDL cholesterol. However, research shows that no matter your weight, it is important to control high blood pressure to maintain good health.\n \nA useful measure of overweight and obesity is body mass index (BMI). BMI measures your weight in relation to your height. To figure out your BMI, check out NHLBIs online BMI calculator or talk to yourhealth care provider.\n \nA BMI:\n \nBelow 18.5 is a sign that you are underweight.\n \nBetween 18.5 and 24.9 is in the healthy range.\n \nBetween 25 and 29.9 is considered overweight.\n \nOf 30 or more is considered obese.\n \nA general goal to aim for is a BMI below 25. Your health care provider can help you set an appropriate BMI goal.\n \nMeasuring waist circumference helps screen for possible health risks. If most of your fat is around your waist rather than at your hips, youre at a higher risk for heart disease and type 2 diabetes. This risk may be high with a waist size that is greater than 35 inches for women or greater than 40 inches for men. To learn how to measure your waist, visit Assessing Your Weight and Health Risk. For more information about losing weight or maintaining your weight, go to Aim for a Healthy Weight.\n \n\n \nLimiting Alcohol Intake\n \nLimit alcohol intake. Too much alcohol will raise your blood pressure and triglyceride levels, a type of fat found in the blood. Alcohol also adds extra calories, which may cause weight gain.\n \nMen should have no more than two drinks containing alcohol a day. Women should have no more than one drink containing alcohol a day. One drink is:\n \n12 ounces of beer\n \n5 ounces of wine\n \n1 ounces of liquor\n \nManaging and Coping With Stress\n \nLearning how to manage stress, relax, and cope with problems can improve your emotional and physical health and can lower high blood pressure. Stress management techniques include:\n \nBeing physically active\n \nListening to music or focusing on something calm or peaceful\n \nPerforming yoga or tai chi\n \nMeditating\n \n\n \nMedicines\n \nBlood pressure medicines work in different ways to stop or slow some of the bodys functions that cause high blood pressure. Medicines to lower blood pressure include:\n \nDiuretics (Water or Fluid Pills): Flush excess sodium from your body, which reduces the amount of fluid in your blood and helps to lower your blood pressure. Diuretics are often used with other high blood pressure medicines, sometimes in one combined pill.\n \nBeta Blockers: Help your heart beat slower and with less force. As a result, your heart pumps less blood through your blood vessels, which can help to lower your blood pressure.\n \nAngiotensin-Converting Enzyme (ACE) Inhibitors: Angiotensin-II is a hormone that narrows blood vessels, increasing blood pressure. ACE converts Angiotensin I to Angiotensin II. ACE inhibitors block this process, which stops the production of Angiotensin II, lowering blood pressure.\n \nAngiotensin II Receptor Blockers (ARBs): Block angiotensin II hormone from binding with receptors in the blood vessels. When angiotensin II is blocked, the blood vessels do not constrict or narrow, which can lower your blood pressure.\n \nCalcium Channel Blockers: Keep calcium from entering the muscle cells of your heart and blood vessels. This allows blood vessels to relax, which can lower your blood pressure.\n \nAlpha Blockers: Reduce nerve impulses that tighten blood vessels. This allows blood to flow more freely, causing blood pressure to go down.\n \nAlpha-Beta Blockers: Reduce nerve impulses the same way alpha blockers do. However, like beta blockers, they also slow the heartbeat. As a result, blood pressure goes down.\n \nCentral Acting Agents: Act in the brain to decrease nerve signals that narrow blood vessels, which can lower blood pressure.\n \nVasodilators: Relax the muscles in blood vessel walls, which can lower blood pressure.\n \nTo lower and control blood pressure, many people take two or more medicines. If you have side effects from your medicines, dont stop taking your medicines. Instead, talk with your health care provider about the side effects to see if the dose can be changed or a new medicine prescribed.\n \nFuture Treatments\n \nScientists, doctors, and researchers continue to study the changes that cause high blood pressure, to develop new medicines and treatments to control high blood pressure. Possible future treatments under investigation include new combination medicines, vaccines, and interventions aimed at the sympathetic nervous system, such as kidney nerve ablation.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Lennox-Gastaut syndrome ?"}, {"role": "assistant", "content": "Lennox-Gastaut syndrome is a form of severe epilepsy that begins in childhood. It is characterized by multiple types of seizures and intellectual disability. People with Lennox-Gastaut syndrome begin having frequent seizures in early childhood, usually between ages 3 and 5. More than three-quarters of affected individuals have tonic seizures, which cause the muscles to stiffen (contract) uncontrollably. These seizures occur most often during sleep. Also common are atypical absence seizures, which cause a partial or complete loss of consciousness. Additionally, many affected individuals have drop attacks, which are sudden episodes of weak muscle tone. Drop attacks can result in falls that cause serious or life-threatening injuries. Other types of seizures have been reported less frequently in people with Lennox-Gastaut syndrome. Most of the seizures associated with Lennox-Gastaut syndrome are very brief. However, more than two-thirds of affected individuals experience at least one prolonged period of seizure activity known as nonconvulsive status epilepticus. These episodes can cause confusion and a loss of alertness lasting from hours to weeks. Almost all children with Lennox-Gastaut syndrome develop learning problems and intellectual disability associated with their frequent seizures. Because the seizures associated with this condition are difficult to control with medication, the intellectual disability tends to worsen with time. Some affected children develop additional neurological abnormalities and behavioral problems. Many also have delayed development of motor skills such as sitting and crawling. As a result of their seizures and progressive intellectual disability, most people with Lennox-Gastaut syndrome require help with some or all of the usual activities of daily living. However, a small percentage of affected adults live independently. People with Lennox-Gastaut syndrome have an increased risk of death compared to their peers of the same age. Although the increased risk is not fully understood, it is partly due to poorly controlled seizures and injuries from falls.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is VACTERL association inherited ?"}, {"role": "assistant", "content": "Most cases of VACTERL association are sporadic, which means they occur in people with no history of the condition in their family. Rarely, families have multiple people affected with VACTERL association. A few affected individuals have family members with one or two features, but not enough signs to be diagnosed with the condition. In these families, the features of VACTERL association often do not have a clear pattern of inheritance. Multiple genetic and environmental factors likely play a part in determining the risk of developing this condition and how severe the condition will be in an individual.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Globozoospermia ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Globozoospermia? The Human Phenotype Ontology provides the following list of signs and symptoms for Globozoospermia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Globozoospermia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Paget disease of bone inherited ?"}, {"role": "assistant", "content": "In 15 to 40 percent of all cases of classic Paget disease of bone, the disorder has an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means that having one copy of an altered gene in each cell is sufficient to cause the disorder. In the remaining cases, the inheritance pattern of classic Paget disease of bone is unclear. Many affected people have no family history of the disease, although it sometimes clusters in families. Studies suggest that close relatives of people with classic Paget disease of bone are 7 to 10 times more likely to develop the disease than people without an affected relative. Early-onset Paget disease of bone is inherited in an autosomal dominant pattern. In people with this form of the disorder, having one altered copy of the TNFRSF11A gene in each cell is sufficient to cause the disease.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Morquio syndrome B ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Morquio syndrome B? The Human Phenotype Ontology provides the following list of signs and symptoms for Morquio syndrome B. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aortic valve stenosis - Autosomal recessive inheritance - Carious teeth - Cervical myelopathy - Cervical subluxation - Coarse facial features - Constricted iliac wings - Coxa valga - Decreased beta-galactosidase activity - Disproportionate short-trunk short stature - Epiphyseal deformities of tubular bones - Flaring of rib cage - Genu valgum - Grayish enamel - Hearing impairment - Hepatomegaly - Hyperlordosis - Hypoplasia of the odontoid process - Inguinal hernia - Intimal thickening in the coronary arteries - Joint laxity - Juvenile onset - Keratan sulfate excretion in urine - Kyphosis - Mandibular prognathia - Metaphyseal widening - Opacification of the corneal stroma - Osteoporosis - Ovoid vertebral bodies - Platyspondyly - Pointed proximal second through fifth metacarpals - Prominent sternum - Recurrent upper respiratory tract infections - Restrictive lung disease - Scoliosis - Ulnar deviation of the wrist - Wide mouth - Widely spaced teeth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Aneurysm ?"}, {"role": "assistant", "content": "The force of blood pushing against the walls of an artery combined with damage or injury to the arterys walls can cause an aneurysm.\n \nMany conditions and factors can damage and weaken the walls of the aorta and cause aortic aneurysms. Examples include aging, smoking, high blood pressure, and atherosclerosis (ath-er-o-skler-O-sis). Atherosclerosis is the hardening and narrowing of the arteries due to the buildup of a waxy substance called plaque (plak).\n \nRarely, infectionssuch as untreated syphilis (a sexually transmitted infection)can cause aortic aneurysms. Aortic aneurysms also can occur as a result of diseases that inflame the blood vessels, such as vasculitis (vas-kyu-LI-tis).\n \nA family history of aneurysms also may play a role in causing aortic aneurysms.\n \nIn addition to the factors above, certain genetic conditions may cause thoracic aortic aneurysms (TAAs). Examples of these conditions include Marfan syndrome, Loeys-Dietz syndrome, Ehlers-Danlos syndrome (the vascular type), and Turner syndrome.\n \nThese genetic conditions can weaken the bodys connective tissues and damage the aorta. People who have these conditions tend to develop aneurysms at a younger age than other people. Theyre also at higher risk for rupture and dissection.\n \nTrauma, such as a car accident, also can damage the walls of the aorta and lead to TAAs.\n \nResearchers continue to look for other causes of aortic aneurysms. For example, theyre looking for genetic mutations (changes in the genes) that may contribute to or cause aneurysms.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Dystonia 1 ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Dystonia 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Dystonia 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Gait disturbance 90% Hypertonia 90% Abnormality of the voice 50% Incomplete penetrance 30% Abnormal posturing - Autosomal dominant inheritance - Blepharospasm - Dysarthria - Hyperlordosis - Kyphosis - Muscular hypotonia - Scoliosis - Torsion dystonia - Torticollis - Tremor - Writer's cramp - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) primary sclerosing cholangitis ?"}, {"role": "assistant", "content": "Primary sclerosing cholangitis is a condition that affects the bile ducts. These ducts carry bile (a fluid that helps to digest fats) from the liver, where bile is produced, to the gallbladder, where it is stored, and to the small intestine, where it aids in digestion. Primary sclerosing cholangitis occurs because of inflammation in the bile ducts (cholangitis) that leads to scarring (sclerosis) and narrowing of the ducts. As a result, bile cannot be released to the gallbladder and small intestine, and it builds up in the liver. Primary sclerosing cholangitis is usually diagnosed around age 40, and for unknown reasons, it affects men twice as often as women. Many people have no signs or symptoms of the condition when they are diagnosed, but routine blood tests reveal liver problems. When apparent, the earliest signs and symptoms of primary sclerosing cholangitis include extreme tiredness (fatigue), discomfort in the abdomen, and severe itchiness (pruritus). As the condition worsens, affected individuals may develop yellowing of the skin and whites of the eyes (jaundice) and an enlarged spleen (splenomegaly). Eventually, the buildup of bile damages the liver cells, causing chronic liver disease (cirrhosis) and liver failure. Without bile available to digest them, fats pass through the body. As a result, weight loss and shortages of vitamins that are absorbed with and stored in fats (fat-soluble vitamins) can occur. A fat-soluble vitamin called vitamin D helps absorb calcium and helps bones harden, and lack of this vitamin can cause thinning of the bones (osteoporosis) in people with primary sclerosing cholangitis. Primary sclerosing cholangitis is often associated with another condition called inflammatory bowel disease, which is characterized by inflammation of the intestines that causes open sores (ulcers) in the intestines and abdominal pain. However, the reason for this link is unclear. Approximately 70 percent of people with primary sclerosing cholangitis have inflammatory bowel disease, most commonly a form of the condition known as ulcerative colitis. In addition, people with primary sclerosing cholangitis are more likely to have an autoimmune disorder, such as type 1 diabetes, celiac disease, or thyroid disease, than people without the condition. Autoimmune disorders occur when the immune system malfunctions and attacks the body's tissues and organs. People with primary sclerosing cholangitis also have an increased risk of developing cancer, particularly cancer of the bile ducts (cholangiocarcinoma).", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Plasma cell leukemia ?"}, {"role": "assistant", "content": "Plasma cell leukemia (PCL) is a rare and aggressive form of multiple myeloma that involves high levels of plasma cells circulating in the peripheral blood. The signs and symptoms of PCL include aggressive clinical features, such as extramedullary disease, bone marrow failure, advanced stage disease and expression of distinct immunophenotypic markers. Different types of treatments are available for patients with PCL. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. For detailed information on the available treatment options, please visit the following link. http://www.cancer.gov/cancertopics/pdq/treatment/myeloma/Patient/page4", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by primary hyperoxaluria ?"}, {"role": "assistant", "content": "Primary hyperoxaluria is estimated to affect 1 in 58,000 individuals worldwide. Type 1 is the most common form, accounting for approximately 80 percent of cases. Types 2 and 3 each account for about 10 percent of cases.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the complications of Inguinal Hernia ?"}, {"role": "assistant", "content": "Inguinal hernias can cause the following complications:\n \n- Incarceration. An incarcerated hernia happens when part of the fat or small intestine from inside the abdomen becomes stuck in the groin or scrotum and cannot go back into the abdomen. A health care provider is unable to massage the hernia back into the abdomen. - Strangulation. When an incarcerated hernia is not treated, the blood supply to the small intestine may become obstructed, causing strangulation of the small intestine. This lack of blood supply is an emergency situation and can cause the section of the intestine to die.\n \n\n \nSeek Immediate Care People who have symptoms of an incarcerated or a strangulated hernia should seek emergency medical help immediately. A strangulated hernia is a life-threatening condition. Symptoms of an incarcerated or a strangulated hernia include - extreme tenderness or painful redness in the area of the bulge in the groin - sudden pain that worsens quickly and does not go away - the inability to have a bowel movement and pass gas - nausea and vomiting - fever", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by spondyloenchondrodysplasia with immune dysregulation ?"}, {"role": "assistant", "content": "SPENCDI appears to be a rare condition, although its prevalence is unknown.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Denys-Drash syndrome inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Miyoshi myopathy ?"}, {"role": "assistant", "content": "Miyoshi myopathy is a muscle disorder that primarily affects muscles away from the center of the body (distal muscles), such as those in the legs. During early to mid-adulthood, affected individuals typically begin to experience muscle weakness and wasting (atrophy) in one or both calves. If only one leg is affected, the calves appear different in size (asymmetrical). Calf weakness can make it difficult to stand on tiptoe. As Miyoshi myopathy slowly progresses, the muscle weakness and atrophy spread up the leg to the muscles in the thigh and buttock. Eventually, affected individuals may have difficulty climbing stairs or walking for an extended period of time. Some people with Miyoshi myopathy may eventually need wheelchair assistance. Rarely, the upper arm or shoulder muscles are mildly affected in Miyoshi myopathy. In a few cases, abnormal heart rhythms (arrhythmias) have developed. Individuals with Miyoshi myopathy have highly elevated levels of an enzyme called creatine kinase (CK) in their blood, which often indicates muscle disease.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Silicosis ?"}, {"role": "assistant", "content": "Silicosis is a respiratory disease caused by breathing in (inhaling) silica dust. There are three types of silicosis: Simple chronic silicosis, the most common type of silicosis, results from long-term exposure (usually more than 20 years) to low amounts of silica dust. Simple chronic silicosis may cause people to have difficulty breathing. Accelerated silicosis occurs after 5 to 15 years of exposure of higher levels of silica. Swelling of the lungs and other symptoms occur faster in this type of silicosis than in the simple chronic form. Acute silicosis results from short-term exposure (weeks or months) of large amounts of silica. The lungs become very inflamed and can fill with fluid, causing severe shortness of breath and low blood oxygen levels. A cough, weight loss, and fatigue may also be present. Acute silicosis progresses rapidly and can be fatal within months. People who work in jobs where they are exposed to silica dust (mining, quarrying, construction, sand blasting, stone cutting) are at risk of developing this condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Osteogenesis imperfecta type V ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Osteogenesis imperfecta type V? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteogenesis imperfecta type V. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Blue sclerae 5% Dentinogenesis imperfecta 5% Joint hypermobility 5% Abnormality of metabolism/homeostasis - Abnormality of pelvic girdle bone morphology - Anterior radial head dislocation - Autosomal dominant inheritance - Biconcave vertebral bodies - Hyperplastic callus formation - Limited pronation/supination of forearm - Osteopenia - Platyspondyly - Recurrent fractures - Short stature - Triangular face - Vertebral wedging - Wormian bones - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Spastic diplegia cerebral palsy ?"}, {"role": "assistant", "content": "How might spastic diplegia cerebral palsy be treated? Treatment of spastic diplegia cerebral palsy varies based on the signs and symptoms present in each person and the severity of the condition. Affected people are often cared for by a team of healthcare providers who specialize in a variety of different medical fields (i.e. neurologists, rehabilitation physicians, social workers, physical therapists, etc). Orthotic devices (such as a walker, wheelchair or leg braces), physical therapy, and occupational therapy can help improve independent mobility. Certain medications may be prescribed to relax stiff, contracted, or overactive muscles. Orthopedic surgery is often recommended for severely affected people who have symptoms that make walking and moving difficult or painful. For more information on the treatment of spastic diplegia cerebral palsy and other forms of cerebral palsy, please click here.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Charcot-Marie-Tooth disease type 1F ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Charcot-Marie-Tooth disease type 1F? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 1F. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Areflexia - Autosomal dominant inheritance - Autosomal recessive inheritance - Clusters of axonal regeneration - Decreased motor nerve conduction velocity - Decreased number of peripheral myelinated nerve fibers - Distal amyotrophy - Distal muscle weakness - Distal sensory impairment - Hyporeflexia - Juvenile onset - Motor delay - Myelin outfoldings - Onion bulb formation - Pes cavus - Segmental peripheral demyelination/remyelination - Variable expressivity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Aplasia cutis congenita ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Aplasia cutis congenita? The Human Phenotype Ontology provides the following list of signs and symptoms for Aplasia cutis congenita. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Skull defect 90% Spinal dysraphism 90% Skin ulcer 50% Abnormality of bone mineral density 7.5% Abnormality of coagulation 7.5% Facial palsy 7.5% Aplasia cutis congenita over the scalp vertex - Autosomal dominant inheritance - Autosomal recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for familial male-limited precocious puberty ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of familial male-limited precocious puberty: - Boston Children's Hospital: Precocious Puberty - Genetic Testing Registry: Gonadotropin-independent familial sexual precocity These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by alternating hemiplegia of childhood ?"}, {"role": "assistant", "content": "Alternating hemiplegia of childhood is a rare condition that affects approximately 1 in 1 million people.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of IMAGe syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of IMAGe syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for IMAGe syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the adrenal glands 90% Abnormality of the upper urinary tract 90% Cryptorchidism 90% Depressed nasal bridge 90% Displacement of the external urethral meatus 90% Frontal bossing 90% Intrauterine growth retardation 90% Low-set, posteriorly rotated ears 90% Micromelia 90% Muscular hypotonia 90% Macrocephaly 5% Adrenal hypoplasia - Autosomal dominant inheritance - Delayed skeletal maturation - Epiphyseal dysplasia - Growth hormone deficiency - Hypercalcemia - Hypercalciuria - Hypospadias - Low-set ears - Metaphyseal dysplasia - Micropenis - Postnatal growth retardation - Prominent forehead - Short nose - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Chromosome 4q deletion ?"}, {"role": "assistant", "content": "How might chromosome 4q deletion be treated? Because chromosome 4q deletion affects many different systems of the body, medical management is often provided by a team of doctors and other healthcare professionals. Treatment for this deletion varies based on the signs and symptoms present in each person. For example, babies with congenital heart defects and certain skeletal abnormalities may require surgery. Children with bone or muscle problems and/or delayed motor milestones (i.e. walking) may be referred for physical or occupational therapy. Certain medications may be prescribed to treat seizures. Special education services are often necessary for children with intellectual disability. Please speak to your healthcare provider if you have any questions about your personal medical management plan.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Attention Deficit-Hyperactivity Disorder ?"}, {"role": "assistant", "content": "Attention deficit-hyperactivity disorder (ADHD) is a neurobehavioral disorder that affects 3-5 percent of all American children. It interferes with a person's ability to stay on a task and to exercise age-appropriate inhibition (cognitive alone or both cognitive and behavioral). Some of the warning signs of ADHD include failure to listen to instructions, inability to organize oneself and school work, fidgeting with hands and feet, talking too much, leaving projects, chores and homework unfinished, and having trouble paying attention to and responding to details. There are several types of ADHD: a predominantly inattentive subtype, a predominantly hyperactive-impulsive subtype, and a combined subtype. ADHD is usually diagnosed in childhood, although the condition can continue into the adult years.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by congenital generalized lipodystrophy ?"}, {"role": "assistant", "content": "Congenital generalized lipodystrophy has an estimated prevalence of 1 in 10 million people worldwide. Between 300 and 500 people with the condition have been described in the medical literature. Although this condition has been reported in populations around the world, it appears to be more common in certain regions of Lebanon and Brazil.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Anxiety Disorders ?"}, {"role": "assistant", "content": "Anxiety disorders are a collection of disorders that include generalized anxiety disorder (GAD), social phobia, and panic disorder.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Problems with Smell ?"}, {"role": "assistant", "content": "Smell is part of our chemical sensing system. Our sense of smell is the ability to detect odors in our environment through our nose, like the fragrance of flowers or the smell of baking bread. Smell is also the ability to detect food odors or aromas released in our mouths when we chew, which then flow from the roof of the throat region to the nose. Congestion blocks this flow and impacts our appreciation of the flavor of food.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Autosomal recessive hyper IgE syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Autosomal recessive hyper IgE syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal recessive hyper IgE syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Asthma 90% Cellular immunodeficiency 90% Decreased antibody level in blood 90% Eczema 90% Otitis media 90% Sinusitis 90% Skin ulcer 90% Verrucae 90% Atopic dermatitis - Autosomal recessive inheritance - Cerebral vasculitis - Eosinophilia - Hemiplegia - Infantile onset - Neoplasm - Recurrent bacterial infections - Recurrent fungal infections - Recurrent sinopulmonary infections - Recurrent viral infections - Subarachnoid hemorrhage - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Neuroacanthocytosis ?"}, {"role": "assistant", "content": "How might neuroacanthocytosis be treated? There is currently no cure for neuroacanthocytosis. Management generally focuses on the specific symptoms that are present in each individual and may require the coordination of various specialists. Psychiatric symptoms and chorea may be treated with certain antipsychotic medications known as dopamine-receptor blocking drugs. Other antipsychotic medications as well as antidepressants and/or sedatives may also be used to treat some affected individuals. Seizures may be treated with anti-convulsants, which may also help to treat psychiatric symptoms. Anti-seizure medications that can can worsen involuntary movements are generally avoided. Dystonia has been treated with botulinum toxin to relax the muscles and reduce spasms. Because of feeding difficulties in some cases, individuals may need to have their nutrition monitored. Nutritional support, supplementation and/or a feeding tube may be necessary in some cases. Additional therapies that may be used to treat affected individuals may include speech therapy, physical therapy and occupational therapy. Mechanical devices, such as braces or a wheelchair, may benefit some people. Computer-assisted speech devices may be necessary in some cases. More detailed information about treatment for neuroacanthocytosis is available on eMedicine's Web site and can be viewed by clicking here.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Febrile Ulceronecrotic Mucha-Habermann disease ?"}, {"role": "assistant", "content": "How is febrile ulceronecrotic Mucha-Habermann disease definitively diagnosed? FUMHD is diagnosed based upon the clinical symptoms in the patient, with confirmation by skin biopsy. Skin biopsy findings suggestive of FUMHD are outlined below. Because this information is technical we recommend that you review it with a health care provider: Epidermis - Findings include focal confluent parakeratosis, spongiosis, dyskeratosis, mild to moderate acanthosis, vacuolization of basal layer with necrotic keratino-cytes, occasional intraepidermal vesicles, extensive epidermal necrosis. In advanced disease findings may also include extension of infiltrate into epidermis, invasion of erythrocytes, widespread epidermal necrosis, and nuclear debris in necrotic areas Dermis Swelling, moderately dense lymphohistiocytic perivascular inflammatory infiltrate usually without atypia, extravasation of lymphocytes and erythrocytes with epidermal invasion, subepidermal vesicles in later lesions, dermal sclerosis in older lesions Vascular changes Dilation and engorgement of blood vessels in papillary dermis with endothelial proliferation, vascular congestion, occlusion, dermal hemorrhage, and extravasation of erythrocytes Vasculitis Fibronoid necrosis of vessel walls with leukocytoclassic vasculitis In the majority of patients, blood tests indicate leukocytosis, anemia, elevated C-reactive protein, and elevated liver enzymes. An association of FUMHD with elevated blood levels of TNF-alpha has also been described.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is the outlook for Colpocephaly ?"}, {"role": "assistant", "content": "The prognosis for individuals with colpocephaly depends on the severity of the associated conditions and the degree of abnormal brain development. Some children benefit from special education.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Alpha-thalassemia x-linked intellectual disability syndrome ?"}, {"role": "assistant", "content": "Alpha-thalassemia x-linked intellectual disability (ATRX) syndrome is a genetic condition that causes intellectual disability, muscle weakness (hypotonia), short height, a particular facial appearance, genital abnormalities, and possibly other symptoms. It is caused by mutations in the ATRX gene and is inherited in an x-linked way. Treatment includes regular visits to the doctor to monitor growth and intellectual development, early intervention and special education programs, and special formula to help with feeding and nutrition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by 3-methylglutaconyl-CoA hydratase deficiency ?"}, {"role": "assistant", "content": "3-methylglutaconyl-CoA hydratase deficiency is a rare disorder; at least 20 cases have been reported in the scientific literature.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Kidney Failure: Choosing a Treatment That's Right for You ?"}, {"role": "assistant", "content": "What should I know about kidney transplantation?\n \nThe purpose of kidney transplantation is to surgically place a healthy kidney from a donora person who has just died or a living person, most often a family memberinto your body. A kidney from someone who has just died is a deceased donor kidney. A kidney from a living person is a living donor kidney. A functioning kidney transplant does a better job of filtering wastes and keeping you healthy than dialysis.\n \nHow Kidney Transplantation Works\n \nSurgeonsdoctors who specialize in surgeryplace most transplanted kidneys in the lower front part of your abdomen. The kidney is connected to an artery, which brings unfiltered blood into the kidney, and a vein, which takes filtered blood out of the kidney. The surgeon also transplants the ureter from the donor to let urine from the new kidney flow to your bladder. Unless your damaged kidneys cause problems such as infection, they can remain in their normal position. The transplanted kidney takes over the job of filtering your blood. Your body normally attacks anything it sees as foreign, so to keep your body from attacking the kidney you need to take medicines called immunosuppressants for as long as the transplanted kidney functions.\n \nPros and Cons of Kidney Transplantation\n \nFollowing is a list of the pros and cons of kidney transplantation.\n \nKidney Transplantation\n \nPros\n \n- A transplanted kidney works like a healthy kidney. - If you have a living donor, you can choose the time of your operation. - You may feel healthier and have an improved quality of life. - You have fewer dietary restrictions. - You wont need dialysis. - People who receive a donated kidney have a greater chance of living a longer life than those who stay on dialysis.\n \nCons\n \n- Transplantation requires surgery. - You will go through extensive medical testing at the transplant clinic. - You may need to wait years for a deceased donor kidney. - Your body may reject the new kidney, so one transplant may not last a lifetime. - Youll need to take immunosuppressants, which may cause other health problems, for as long as the transplanted kidney functions.\n \nQuestions to Ask My Doctor\n \nYou may want to ask your doctor these questions:\n \n- Is transplantation the best treatment choice for me? Why? - What are my chances of having a successful transplant? - How do I find out whether a family member or friend can donate? - What are the risks to a family member or friend who donates? - If a family member or friend does not donate, who will place me on a waiting list for a kidney? How long will I have to wait? - How will I know if my donor kidney is working? - How long does a transplanted kidney function? - What side effects do immunosuppressants cause? - Who will be on my transplant team? How can the members of my transplant team help me? - With whom can I talk about finances, sex, or family concerns? - How/where can I talk with other people who have faced this decision?\n \nMore information about Transplantation is provided in the NIDDK health topic, Treatment Methods for Kidney Failure: Transplantation. See also the Kidney Failure Treatment Comparison Chart, which compares peritoneal dialysis, hemodialysis, and transplantation.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to multiple familial trichoepithelioma ?"}, {"role": "assistant", "content": "Multiple familial trichoepithelioma can be caused by mutations in the CYLD gene. This gene provides instructions for making a protein that helps regulate nuclear factor-kappa-B. Nuclear factor-kappa-B is a group of related proteins that help protect cells from self-destruction (apoptosis) in response to certain signals. In regulating the action of nuclear factor-kappa-B, the CYLD protein allows cells to respond properly to signals to self-destruct when appropriate, such as when the cells become abnormal. By this mechanism, the CYLD protein acts as a tumor suppressor, which means that it helps prevent cells from growing and dividing too fast or in an uncontrolled way. People with CYLD-related multiple familial trichoepithelioma are born with a mutation in one of the two copies of the CYLD gene in each cell. This mutation prevents the cell from making functional CYLD protein from the altered copy of the gene. However, enough protein is usually produced from the other, normal copy of the gene to regulate cell growth effectively. For tumors to develop, a second mutation or deletion of genetic material involving the other copy of the CYLD gene must occur in certain cells during a person's lifetime. When both copies of the CYLD gene are mutated in a particular cell, that cell cannot produce any functional CYLD protein. The loss of this protein allows the cell to grow and divide in an uncontrolled way to form a tumor. In people with multiple familial trichoepithelioma, a second CYLD mutation typically occurs in multiple cells over an affected person's lifetime. The loss of CYLD protein in these cells leads to the growth of skin appendage tumors. Some researchers consider multiple familial trichoepithelioma and two related conditions called familial cylindromatosis and Brooke-Spiegler syndrome, which are also caused by CYLD gene mutations, to be different forms of the same disorder. It is unclear why mutations in the CYLD gene cause different patterns of skin appendage tumors in each of these conditions, or why the tumors are generally confined to the skin in these disorders. Some people with multiple familial trichoepithelioma do not have mutations in the CYLD gene. Scientists are working to identify the genetic cause of the disorder in these individuals.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is hereditary fructose intolerance inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Hydatidiform mole ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Hydatidiform mole? The Human Phenotype Ontology provides the following list of signs and symptoms for Hydatidiform mole. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the menstrual cycle 90% Anemia 90% Nausea and vomiting 90% Spontaneous abortion 90% Toxemia of pregnancy 90% Hyperthyroidism 7.5% Abnormality of the genitourinary system - Autosomal recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is the outlook for Kearns-Sayre Syndrome ?"}, {"role": "assistant", "content": "KSS is a slowly progressive disorder. The prognosis for individuals with KSS varies depending on the severity and the number of organs involved. Early diagnosis and periodic electrocardiogram (ECG) are important since heart block can cause death in 20 percent of patients. Early pacemaker implantation can be of great benefit and offer a longer life expectancy in many patients.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Persistence of mullerian derivatives with lymphangiectasia and postaxial polydactyly ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Persistence of mullerian derivatives with lymphangiectasia and postaxial polydactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Persistence of mullerian derivatives with lymphangiectasia and postaxial polydactyly. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cryptorchidism 90% Hepatic failure 90% Abnormality of the palate 50% Hypocalcemia 50% Long philtrum 50% Low-set, posteriorly rotated ears 50% Polyhydramnios 50% Short neck 50% Thickened nuchal skin fold 50% Underdeveloped supraorbital ridges 50% Abnormality of the intestine 7.5% Adducted thumb 7.5% Anteverted nares 7.5% Epicanthus 7.5% Hernia of the abdominal wall 7.5% Hypoplasia of penis 7.5% Kyphosis 7.5% Prominent metopic ridge 7.5% Renal hypoplasia/aplasia 7.5% Ventriculomegaly 7.5% Abdominal distention - Alveolar ridge overgrowth - Ascites - Autosomal recessive inheritance - Cleft palate - Death in infancy - Flat midface - Flat occiput - Hepatomegaly - High palate - Hydronephrosis - Hypertelorism - Hypertrichosis - Hypoproteinemia - Inguinal hernia - Low-set ears - Lymphedema - Malar flattening - Micropenis - Muscular hypotonia - Narrow chest - Pancreatic lymphangiectasis - Postaxial hand polydactyly - Proptosis - Protein-losing enteropathy - Pulmonary lymphangiectasia - Redundant neck skin - Smooth philtrum - Splenomegaly - Thyroid lymphangiectasia - Ventricular septal defect - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to catecholaminergic polymorphic ventricular tachycardia ?"}, {"role": "assistant", "content": "CPVT can result from mutations in two genes, RYR2 and CASQ2. RYR2 gene mutations cause about half of all cases, while mutations in the CASQ2 gene account for 1 percent to 2 percent of cases. In people without an identified mutation in one of these genes, the genetic cause of the disorder is unknown. The RYR2 and CASQ2 genes provide instructions for making proteins that help maintain a regular heartbeat. For the heart to beat normally, heart muscle cells called myocytes must tense (contract) and relax in a coordinated way. Both the RYR2 and CASQ2 proteins are involved in handling calcium within myocytes, which is critical for the regular contraction of these cells. Mutations in either the RYR2 or CASQ2 gene disrupt the handling of calcium within myocytes. During exercise or emotional stress, impaired calcium regulation in the heart can lead to ventricular tachycardia in people with CPVT.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Mitochondrial DNA-associated Leigh syndrome ?"}, {"role": "assistant", "content": "Mitochondrial DNA-associated Leigh syndrome is a progressive brain disorder that usually appears in infancy or early childhood. Affected children may experience vomiting, seizures, delayed development, muscle weakness, and problems with movement. Heart disease, kidney problems, and difficulty breathing can also occur in people with this disorder. Mitochondrial DNA-associated Leigh syndrome is a subtype of Leigh syndrome and is caused by changes in mitochondrial DNA. Mutations in at least 11 mitochondrial genes have been found to cause mtDNA-associated Leigh syndrome. This condition has an inheritance pattern known as maternal or mitochondrial inheritance. Because mitochondria can be passed from one generation to the next only through egg cells (not through sperm cells), only females pass mitochondrial DNA-associated Leigh syndrome to their children.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by Li-Fraumeni syndrome ?"}, {"role": "assistant", "content": "The exact prevalence of Li-Fraumeni is unknown. One U.S. registry of Li-Fraumeni syndrome patients suggests that about 400 people from 64 families have this disorder.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Who is at risk for Childhood Craniopharyngioma? ?"}, {"role": "assistant", "content": "There are no known risk factors for childhood craniopharyngioma. Craniopharyngiomas are rare in children younger than 2 years of age and are most often diagnosed in children aged 5 to 14 years. It is not known what causes these tumors.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Cystic Fibrosis ?"}, {"role": "assistant", "content": "The signs and symptoms of cystic fibrosis (CF) vary from person to person and over time. Sometimes you'll have few symptoms. Other times, your symptoms may become more severe.\n \nOne of the first signs of CF that parents may notice is that their baby's skin tastes salty when kissed, or the baby doesn't pass stool when first born.\n \nMost of the other signs and symptoms of CF happen later. They're related to how CF affects the respiratory, digestive, or reproductive systems of the body.\n \nCystic Fibrosis\n \n\n \nRespiratory System Signs and Symptoms\n \nPeople who have CF have thick, sticky mucus that builds up in their airways. This buildup of mucus makes it easier for bacteria to grow and cause infections. Infections can block the airways and cause frequent coughing that brings up thick sputum (spit) or mucus that's sometimes bloody.\n \nPeople who have CF tend to have lung infections caused by unusual germs that don't respond to standard antibiotics. For example, lung infections caused by bacteria called mucoid Pseudomonas are much more common in people who have CF than in those who don't. An infection caused by these bacteria may be a sign of CF.\n \nPeople who have CF have frequent bouts of sinusitis (si-nu-SI-tis), an infection of the sinuses. The sinuses are hollow air spaces around the eyes, nose, and forehead. Frequent bouts of bronchitis (bron-KI-tis) and pneumonia (nu-MO-ne-ah) also can occur. These infections can cause long-term lung damage.\n \nAs CF gets worse, you may have more serious problems, such as pneumothorax (noo-mo-THOR-aks) or bronchiectasis (brong-ke-EK-ta-sis).\n \nSome people who have CF also develop nasal polyps (growths in the nose) that may require surgery.\n \nDigestive System Signs and Symptoms\n \nIn CF, mucus can block tubes, or ducts, in your pancreas (an organ in your abdomen). These blockages prevent enzymes from reaching your intestines.\n \nAs a result, your intestines can't fully absorb fats and proteins. This can cause ongoing diarrhea or bulky, foul-smelling, greasy stools. Intestinal blockages also may occur, especially in newborns. Too much gas or severe constipation in the intestines may cause stomach pain and discomfort.\n \nA hallmark of CF in children is poor weight gain and growth. These children are unable to get enough nutrients from their food because of the lack of enzymes to help absorb fats and proteins.\n \nAs CF gets worse, other problems may occur, such as:\n \nPancreatitis (PAN-kre-ah-TI-tis). This is a condition in which the pancreas become inflamed, which causes pain.\n \nRectal prolapse. Frequent coughing or problems passing stools may cause rectal tissue from inside you to move out of your rectum.\n \nLiver disease due to inflamed or blocked bile ducts.\n \nDiabetes.\n \nGallstones.\n \nReproductive System Signs and Symptoms\n \nMen who have CF are infertile because they're born without a vas deferens. The vas deferens is a tube that delivers sperm from the testes to the penis.\n \nWomen who have CF may have a hard time getting pregnant because of mucus blocking the cervix or other CF complications.\n \nOther Signs, Symptoms, and Complications\n \nOther signs and symptoms of CF are related to an upset of the balance of minerals in your blood.\n \nCF causes your sweat to become very salty. As a result, your body loses large amounts of salt when you sweat. This can cause dehydration (a lack of fluid in your body), increased heart rate, fatigue (tiredness), weakness, decreased blood pressure, heat stroke, and, rarely, death.\n \nCF also can cause clubbing and low bone density. Clubbing is the widening and rounding of the tips of your fingers and toes. This sign develops late in CF because your lungs aren't moving enough oxygen into your bloodstream.\n \nLow bone density also tends to occur late in CF. It can lead to bone-thinning disorders called osteoporosis and osteopenia.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Who is at risk for Glaucoma? ?"}, {"role": "assistant", "content": "Encourage them to have a comprehensive dilated eye exam at least once every two years. Remember -- lowering eye pressure in glaucoma's early stages slows progression of the disease and helps save vision. Get tips on finding an eye care professional.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to rhizomelic chondrodysplasia punctata ?"}, {"role": "assistant", "content": "Rhizomelic chondrodysplasia punctata results from mutations in one of three genes. Mutations in the PEX7 gene, which are most common, cause RCDP1. Changes in the GNPAT gene lead to RCDP2, while AGPS gene mutations result in RCDP3. The genes associated with rhizomelic chondrodysplasia punctata are involved in the formation and function of structures called peroxisomes. Peroxisomes are sac-like compartments within cells that contain enzymes needed to break down many different substances, including fatty acids and certain toxic compounds. They are also important for the production of fats (lipids) used in digestion and in the nervous system. Within peroxisomes, the proteins produced from the PEX7, GNPAT, and AGPS genes play roles in the formation (synthesis) of lipid molecules called plasmalogens. Plasmalogens are found in cell membranes throughout the body, although little is known about their function. Mutations in the PEX7, GNPAT, or AGPS genes prevent peroxisomes from making plasmalogens. Researchers are working to determine how problems with plasmalogen synthesis lead to the specific signs and symptoms of rhizomelic chondrodysplasia punctata.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Knee Replacement ?"}, {"role": "assistant", "content": "Treatments your doctor will likely recommend before knee replacement include - exercises to strengthen the muscles around the knee and improve flexibility - weight loss, if needed, to reduce the load the knee must bear - walking aids such as canes to reduce stress on the joint - shoe inserts to improve the knees alignment - medicines to relieve pain. exercises to strengthen the muscles around the knee and improve flexibility weight loss, if needed, to reduce the load the knee must bear walking aids such as canes to reduce stress on the joint shoe inserts to improve the knees alignment medicines to relieve pain.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Lynch syndrome inherited ?"}, {"role": "assistant", "content": "Lynch syndrome cancer risk is inherited in an autosomal dominant pattern, which means one inherited copy of the altered gene in each cell is sufficient to increase cancer risk. It is important to note that people inherit an increased risk of cancer, not the disease itself. Not all people who inherit mutations in these genes will develop cancer.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Mandibulofacial dysostosis with microcephaly ?"}, {"role": "assistant", "content": "What causes mandibulofacial dysostosis with microcephaly? Mandibulofacial dysostosis with microcephaly (MFDM) is caused by mutations in the EFTUD2 gene. This gene gives the body instructions for making part of spliceosomes, which help process a type of RNA- a chemical cousin of DNA that serves as a genetic blueprint for making proteins. Mutations in EFTUD2 impair the production or function of the enzyme from the gene, which impairs the processing of mRNA. However, at this time, it is not clear how this process causes the specific symptoms of MFDM.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Porencephaly ?"}, {"role": "assistant", "content": "Porencephaly is a rare condition that affects the central nervous system. People with porencephaly develop fluid-filled cysts or cavities in the brain either before or shortly after birth. The severity of the condition and the associated signs and symptoms vary significantly based on the size, location, and number of cysts. Common features include developmental delay, reduced muscle tone (hypotonia), seizures, macrocephaly (unusually large head size), spastic hemiplegia, speech problems, delayed growth, and intellectual disability. Porencephaly is usually the result of damage from infection or stroke after birth. In these cases, the condition occurs sporadically in people with no family history of the condition. There is an inherited form of the condition called familial porencephaly, which is caused by changes (mutations) in the COL4A1 or COL4A2 genes and is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person and may include physical therapy and medication for seizures.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Von Hippel-Lindau disease ?"}, {"role": "assistant", "content": "Von Hippel-Lindau (VHL) disease is an inherited disorder characterized by the abnormal growth of both benign and cancerous tumors and cysts in many parts of the body. Tumors usually first appear in young adulthood. The types of tumors associated with VHL disease include hemangioblastomas (slow-growing tumors of the central nervous system); kidney cysts and clear cell renal cell carcinoma; pancreatic neuroendocrine tumors; pheochromocytomas (noncancerous tumors of the adrenal glands); and endolymphatic sac tumors. VHL disease is caused by a mutation in the VHL gene and is inherited in an autosomal dominant manner. Early detection and treatment of VHL disease is important, and usually involves surgical removal of tumors.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Wiskott-Aldrich syndrome ?"}, {"role": "assistant", "content": "Wiskott-Aldrich syndrome is characterized by abnormal immune system function (immune deficiency) and a reduced ability to form blood clots. This condition primarily affects males. Individuals with Wiskott-Aldrich syndrome have microthrombocytopenia, which is a decrease in the number and size of blood cells involved in clotting (platelets). This platelet abnormality, which is typically present from birth, can lead to easy bruising or episodes of prolonged bleeding following minor trauma. Wiskott-Aldrich syndrome causes many types of white blood cells, which are part of the immune system, to be abnormal or nonfunctional, leading to an increased risk of several immune and inflammatory disorders. Many people with this condition develop eczema, an inflammatory skin disorder characterized by abnormal patches of red, irritated skin. Affected individuals also have an increased susceptibility to infection. People with Wiskott-Aldrich syndrome are at greater risk of developing autoimmune disorders, which occur when the immune system malfunctions and attacks the body's own tissues and organs. The chance of developing some types of cancer, such as cancer of the immune system cells (lymphoma), is also greater in people with Wiskott-Aldrich syndrome.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Dystonia 3, torsion, X-linked ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Dystonia 3, torsion, X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Dystonia 3, torsion, X-linked. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Adult onset - Chorea - Myoclonus - Parkinsonism with favorable response to dopaminergic medication - Torsion dystonia - Tremor - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for glutathione synthetase deficiency ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of glutathione synthetase deficiency: - Baby's First Test - Genetic Testing Registry: Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to - Genetic Testing Registry: Gluthathione synthetase deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Bronchiolitis obliterans ?"}, {"role": "assistant", "content": "Bronchiolitis obliterans is an inflammatory obstruction of the lung's tiniest airways, the bronchioles. The bronchioles may become damaged and inflamed after inhalation of toxic fumes, as a result of respiratory infections, in association with connective tissue disorders, or after bone marrow or heart-lung transplants. This leads to extensive scarring that blocks the airways, leading to a dry cough, shortness of breath, fatigue and wheezing in the absence of a cold or asthma. While there is no way to reverse the disease, treatments are available to stabilize or slow the progression. Another similarly named disease, bronchiolitis obliterans organizing pneumonia, is a completely different disease.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Do you have information about Bone Grafts"}, {"role": "assistant", "content": "Summary : A bone graft transplants bone tissue. Surgeons use bone grafts to repair and rebuild diseased bones in your hips, knees, spine, and sometimes other bones and joints. Grafts can also repair bone loss caused by some types of fractures or cancers. Once your body accepts the bone graft, it provides a framework for growth of new, living bone. If the transplanted bone comes from another person, it is called an allograft. Most allograft bone comes from donors who have died. Tissue banks screen these donors and disinfect and test the donated bone to make sure it is safe to use. If the transplanted bone comes from another part of your own body, it is called an autograft. Autograft bone often comes from your ribs, hips or a leg.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Parkinson disease ?"}, {"role": "assistant", "content": "Parkinson disease belongs to a group of conditions called movement disorders. The four main symptoms are tremor, or trembling in hands, arms, legs, jaw, or head; rigidity, or stiffness of the limbs and trunk; bradykinesia, or slowness of movement; and postural instability, or impaired balance. These symptoms usually begin gradually and worsen with time. As they become more pronounced, patients may have difficulty walking, talking, or completing other simple tasks. Not everyone with one or more of these symptoms has Parkinson disease, as the symptoms sometimes appear in other diseases as well. Parkinson disease affects about 1 to 2 percent of people over the age of 60 years and the chance of developing Parkinson disease increases as we age. Although some Parkinson disease cases appear to be hereditary most cases are sporadic and occur in people with no apparent history of the disorder in their family. When three or more people are affected in a family, especially if they are diagnosed at an early age (under 50 years) there may be a gene making this family more likely to develop the condition. Currently, seven genes that cause some form of Parkinson's disease have been identified. Mutations (changes) in three known genes called SNCA (PARK1),UCHL1 (PARK 5), and LRRK2 (PARK8) and another mapped gene (PARK3) have been reported in families with dominant inheritance. Mutations in three known genes, PARK2 (PARK2), PARK7 (PARK7), and PINK1 (PARK6) have been found in affected individuals who had siblings with the condition but whose parents did not have Parkinson's disease (recessive inheritance). There is some research to suggest that these genes are also involved in early-onset Parkinson's disease (diagnosed before the age of 30) or in dominantly inherited Parkinson's disease but it is too early yet to be certain. However, in most cases inheriting a mutation will not cause someone to develop Parkinson's disease because there may be additional genes and environmental factors determining who will get the condition, when they get it and how it affects them.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Cushing disease ?"}, {"role": "assistant", "content": "Cushing disease is a condition caused by elevated levels of a hormone called cortisol. It is part of a group of diseases known as Cushings syndrome. The signs and symptoms include weight gain around the trunk and in the face, stretch marks, easy bruising, a hump on the upper back, muscle weakness, tiredness, thin bones that are prone to fracture (osteoporosis), mood disorders and memory problems. Patients also have an increased risk of infections, high blood pressure and diabetes. Women may have irregular menses and a lot of hair in the body (hirsutism). Cushing disease occurs when a benign pituitary tumor (adenoma) or pituitary hyperplasia causes the adrenal glands to produce large amounts of cortisol. The genetic cause of Cushing disease is often unknown but some cases are caused by somatic mutations in genes involved in hormonal activity. Most cases occur sporadically in people with no family history of the condition. Rarely, Cushing disease can be inherited, either as an isolated condition or as part of a genetic syndrome (such as multiple endocrine neoplasia type 1 (MEN1) and familial isolated pituitary adenoma). Treatment generally involves surgery to remove the tumor and medications to decrease cortisol levels.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Gallstones ?"}, {"role": "assistant", "content": "A health care provider will usually order an ultrasound exam to diagnose gallstones. Other imaging tests may also be used.\n \n- Ultrasound exam. Ultrasound uses a device, called a transducer, that bounces safe, painless sound waves off organs to create an image of their structure. A specially trained technician performs the procedure in a health care providers offi ce, outpatient center, or hospital, and a radiologista doctor who specializes in medical imaginginterprets the images. Anesthesia is not needed. If gallstones are present, they will be visible in the image. Ultrasound is the most accurate method to detect gallstones. - Computerized tomography (CT) scan. A CT scan is an x ray that produces pictures of the body. A CT scan may include the injection of a special dye, called contrast medium. CT scans use a combination of x rays and computer technology to create three-dimensional (3-D) images. CT scans require the person to lie on a table that slides into a tunnel-shaped device where the x rays are taken. An x-ray technician performs the procedure in an outpatient center or hospital, and a radiologist interprets the images. Anesthesia is not needed. CT scans can show gallstones or complications, such as infection and blockage of the gallbladder or bile ducts. However, CT scans can miss gallstones that are present. - Magnetic resonance imaging (MRI). MRI machines use radio waves and magnets to produce detailed pictures of the bodys internal organs and soft tissues without using x rays. A specially trained technician performs the procedure in an outpatient center or hospital, and a radiologist interprets the images. Anesthesia is not needed, though people with a fear of confi ned spaces may receive light sedation. An MRI may include the injection of contrast medium. With most MRI machines, the person lies on a table that slides into a tunnel-shaped device that may be open ended or closed at one end; some newer machines allow the person to lie in a more open space. MRIs can show gallstones in the ducts of the biliary system. - Cholescintigraphy. Cholescintigraphyalso called a hydroxyl iminodiacetic acid scan, HIDA scan, or hepatobiliary scanuses an unharmful radioactive material to produce pictures of the biliary system. In cholescintigraphy, the person lies on an exam table and a health care provider injects a small amount of unharmful radioactive material into a vein in the persons arm. The health care provider may also inject a substance that causes the gallbladder to contract. A special camera takes pictures of the radioactive material as it moves through the biliary system. A specially trained technician performs the procedure in an outpatient center or hospital, and a radiologist interprets the images. Anesthesia is not needed. Cholescintigraphy is used to diagnose abnormal contractions of the gallbladder or obstruction of the bile ducts. - Endoscopic retrograde cholangiopancreatography (ERCP). ERCP uses an x ray to look into the bile and pancreatic ducts. After lightly sedating the person, the health care provider inserts an endoscopea small, flexible tube with a light and a camera on the endthrough the mouth into the duodenum and bile ducts. The endoscope is connected to a computer and video monitor. The health care provider injects contrast medium through the tube into the bile ducts, which makes the ducts show up on the monitor. The health care provider performs the procedure in an outpatient center or hospital. ERCP helps the health care provider locate the affected bile duct and the gallstone. The stone is captured in a tiny basket attached to the endoscope and removed. This test is more invasive than other tests and is used selectively.\n \nHealth care providers also use blood tests to look for signs of infection or in flammation of the bile ducts, gallbladder, pancreas, or liver. A blood test involves drawing blood at a health care providers offi ce or commercial facility and sending the sample to a lab for analysis.\n \nGallstone symptoms may be similar to those of other conditions, such as appendicitis, ulcers, pancreatitis, and gastroesophageal refl ux disease.\n \nSometimes, silent gallstones are found when a person does not have any symptoms. For example, a health care provider may notice gallstones when performing ultrasound for a different reason.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Moyamoya disease ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Moyamoya disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Moyamoya disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the cerebral vasculature 50% Cognitive impairment 50% Seizures 50% Ventriculomegaly 50% Autosomal recessive inheritance - Inflammatory arteriopathy - Telangiectasia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Shingles ?"}, {"role": "assistant", "content": "Shingles (herpes zoster) is an outbreak of rash or blisters on the skin that is caused by the same virus that causes chickenpox the varicella-zoster virus. The first sign of shingles is often burning or tingling pain (which can be severe), or sometimes numbness or itch,generally on one side of the body. After several days or a week, a rash of fluid-filled blisters, similar to chickenpox, appears in one area on one side of the body. Shingles pain can be mild or intense. Some people have mostly itching; some feel pain from the gentlest touch or breeze. The most common location for shingles is a band, called a dermatome, spanning one side of the trunk around the waistline. Anyone who has had chickenpox is at risk for shingles. Scientists think that some of the virus particles from the original exposure to the varicella-zoster virus,leave the skin blisters and move into the nervous system. When the varicella-zoster virus reactivates, the virus moves back down the long nerve fibers that extend from the sensory cell bodies to the skin. The viruses multiply, the tell-tale rash erupts, and the person now has shingles.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Pontocerebellar hypoplasia type 1 inherited ?"}, {"role": "assistant", "content": "How is pontocerebellar hypoplasia type 1 inherited? Pontocerebellar hypoplasia type 1 (PCH1) is inherited in an autosomal recessive pattern, which means both copies of the associated gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. This means that parents who are carriers of this condition have a 25% chance of having an affected child.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Progressive myoclonic epilepsy ?"}, {"role": "assistant", "content": "Progressive myoclonus epilepsy (PME) refers to a group of inherited conditions involving the central nervous system and representing more than a dozen different diseases. These diseases share certain features, including a worsening of symptoms over time and the presence of both muscle contractions (myoclonus) and seizures (epilepsy). PME is different from myoclonic epilepsy. Other features include dementia, dystonia, and trouble walking or speaking. These rare disorders often get worse over time and sometimes are fatal. Many of these PME diseases begin in childhood or adolescence.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) anencephaly ?"}, {"role": "assistant", "content": "Anencephaly is a condition that prevents the normal development of the brain and the bones of the skull. This condition results when a structure called the neural tube fails to close during the first few weeks of embryonic development. The neural tube is a layer of cells that ultimately develops into the brain and spinal cord. Because anencephaly is caused by abnormalities of the neural tube, it is classified as a neural tube defect. Because the neural tube fails to close properly, the developing brain and spinal cord are exposed to the amniotic fluid that surrounds the fetus in the womb. This exposure causes the nervous system tissue to break down (degenerate). As a result, people with anencephaly are missing large parts of the brain called the cerebrum and cerebellum. These brain regions are necessary for thinking, hearing, vision, emotion, and coordinating movement. The bones of the skull are also missing or incompletely formed. Because these nervous system abnormalities are so severe, almost all babies with anencephaly die before birth or within a few hours or days after birth.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by Mowat-Wilson syndrome ?"}, {"role": "assistant", "content": "The prevalence of Mowat-Wilson syndrome is unknown. More than 200 people with this condition have been reported in the medical literature.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for succinate-CoA ligase deficiency ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of succinate-CoA ligase deficiency: - Gene Review: Gene Review: SUCLA2-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, with Mild Methylmalonic Aciduria - Genetic Testing Registry: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) - Genetic Testing Registry: Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria) - MedlinePlus Encyclopedia: Hypotonia - MedlinePlus Encyclopedia: Lactic Acidosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Pili torti ?"}, {"role": "assistant", "content": "Are there new therapies for treatment of pili torti? In acquired pili torti, treatment involves stopping the exposure to the causative agent (e.g., to oral retinoids) or condition (e.g., improving diet). There is no specific treatment for the inherited form of pili torti. It may improve spontaneously after puberty. If pili torti is detected, further evaluation to investigate possible neurological disorders, problems with hair, teeth or nails (ectodermal disturbances) and hearing loss is mandatory. It is generally recommended that people with pili torti try to avoid trauma to the hair. Suggestions include, sleeping on a satin pillowcase, avoiding excessive grooming, braiding, heat treatments, dying and coloring, reducing exposure to sunlight (wear a hat), using gentle shampoos diluted in warm water, adding conditioner to freshly washed hair, avoiding use of a hair dryer (or using it on cool setting), and avoiding oral retinoids (e.g., isotretinoin, acitretin) if possible. Some individuals with pili torti choose to wear a wig.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by warfarin resistance ?"}, {"role": "assistant", "content": "Warfarin resistance is thought to be a rare condition, although its prevalence is unknown.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to chronic atrial and intestinal dysrhythmia ?"}, {"role": "assistant", "content": "CAID is caused by mutations in the SGO1 gene. This gene provides instructions for making part of a protein complex called cohesin. This protein complex helps control the placement of chromosomes during cell division. Before cells divide, they must copy all of their chromosomes. The copied DNA from each chromosome is arranged into two identical structures, called sister chromatids, which are attached to one another during the early stages of cell division. Cohesin holds the sister chromatids together, and in doing so helps maintain the stability of chromosomal structure during cell division. Researchers suggest that SGO1 gene mutations may result in a cohesin complex that is less able to hold sister chromatids together, resulting in decreased chromosomal stability during cell division. This instability is thought to cause early aging (senescence) of cells in the intestinal muscle and in the SA node, resulting in problems maintaining proper rhythmic movements of the heart and intestines and leading to the signs and symptoms of CAID. It is unclear why SGO1 gene mutations specifically affect the heart and intestines in CAID. Researchers suggest that the activity (expression) of the SGO1 gene in certain embryonic tissues or a particular function of the SGO1 protein in the SA node and in cells that help control peristalsis may account for the features of the disorder.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Waardenburg syndrome type 2 ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Waardenburg syndrome type 2? In general, Waardenburg syndrome is characterized by varying degrees of hearing loss and changes in skin and hair color (pigmentation). Those with Waardenburg syndrome type 2, do not have a wide space between the inner corners of their eyes or other facial abnormalities. Most have a hearing impairment or are deaf and also have heterochromia of the iris (two different colored eyes). Other features of Waardenburg syndrome, including white forelock, premature graying of the hair, and irregular depigmentation of the skin, are less common in this type. The Human Phenotype Ontology provides the following list of signs and symptoms for Waardenburg syndrome type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Heterochromia iridis 90% Premature graying of hair 90% Sensorineural hearing impairment 90% Hypopigmented skin patches 50% White forelock 50% Abnormality of the kidney 7.5% Abnormality of the pulmonary artery 7.5% Aganglionic megacolon 7.5% Ptosis 7.5% Telecanthus 7.5% Albinism - Autosomal dominant inheritance - Congenital sensorineural hearing impairment - Heterogeneous - Hypoplastic iris stroma - Partial albinism - Synophrys - Underdeveloped nasal alae - Variable expressivity - White eyebrow - White eyelashes - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for osteoporosis-pseudoglioma syndrome ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of osteoporosis-pseudoglioma syndrome: - Genetic Testing Registry: Osteoporosis with pseudoglioma - Lucile Packard Children's Hospital at Stanford: Juvenile Osteoporosis - MedlinePlus Encyclopedia: Bone Mineral Density Test - Merck Manual Home Health Edition: Osteoporosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) holocarboxylase synthetase deficiency ?"}, {"role": "assistant", "content": "Holocarboxylase synthetase deficiency is an inherited disorder in which the body is unable to use the vitamin biotin effectively. This disorder is classified as a multiple carboxylase deficiency, a group of disorders characterized by impaired activity of certain enzymes that depend on biotin. The signs and symptoms of holocarboxylase synthetase deficiency typically appear within the first few months of life, but the age of onset varies. Affected infants often have difficulty feeding, breathing problems, a skin rash, hair loss (alopecia), and a lack of energy (lethargy). Immediate treatment and lifelong management with biotin supplements may prevent many of these complications. If left untreated, the disorder can lead to delayed development, seizures, and coma. These medical problems may be life-threatening in some cases.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by 18q deletion syndrome ?"}, {"role": "assistant", "content": "18q deletion syndrome occurs in an estimated 1 in 40,000 newborns. This condition is found in people of all ethnic backgrounds.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the stages of Skin Cancer ?"}, {"role": "assistant", "content": "Key Points\n - After nonmelanoma skin cancer has been diagnosed, tests are done to find out if cancer cells have spread within the skin or to other parts of the body. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. - Staging of nonmelanoma skin cancer depends on whether the tumor has certain \"high-risk\" features and if the tumor is on the eyelid. - The following stages are used for nonmelanoma skin cancer that is not on the eyelid: - Stage 0 (Carcinoma in Situ) - Stage I Stage I nonmelanoma skin cancer. The tumor is no more than 2 centimeters. - Stage II Stage II nonmelanoma skin cancer. The tumor is more than 2 centimeters wide. - Stage III - Stage IV - The following stages are used for nonmelanoma skin cancer on the eyelid: - Stage 0 (Carcinoma in Situ) - Stage I - Stage II - Stage III - Stage IV - Treatment is based on the type of nonmelanoma skin cancer or other skin condition diagnosed: - Basal cell carcinoma - Squamous cell carcinoma - Actinic keratosis\n \n \n After nonmelanoma skin cancer has been diagnosed, tests are done to find out if cancer cells have spread within the skin or to other parts of the body.\n The process used to find out if cancer has spread within the skin or to other parts of the body is called staging. The information gathered from the staging process determines the stage of the disease. It is important to know the stage in order to plan treatment. The following tests and procedures may be used in the staging process: - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body. This procedure is also called nuclear magnetic resonance imaging (NMRI). - Lymph node biopsy : For squamous cell carcinoma, the lymph nodes may be removed and checked to see if cancer has spread to them.\n \n \n There are three ways that cancer spreads in the body.\n Cancer can spread through tissue, the lymph system, and the blood: - Tissue. The cancer spreads from where it began by growing into nearby areas. - Lymph system. The cancer spreads from where it began by getting into the lymph system. The cancer travels through the lymph vessels to other parts of the body. - Blood. The cancer spreads from where it began by getting into the blood. The cancer travels through the blood vessels to other parts of the body.\n \n \n Cancer may spread from where it began to other parts of the body.\n When cancer spreads to another part of the body, it is called metastasis. Cancer cells break away from where they began (the primary tumor) and travel through the lymph system or blood. - Lymph system. The cancer gets into the lymph system, travels through the lymph vessels, and forms a tumor (metastatic tumor) in another part of the body. - Blood. The cancer gets into the blood, travels through the blood vessels, and forms a tumor (metastatic tumor) in another part of the body. The metastatic tumor is the same type of cancer as the primary tumor. For example, if skin cancer spreads to the lung, the cancer cells in the lung are actually skin cancer cells. The disease is metastatic skin cancer, not lung cancer.\n \n \n Staging of nonmelanoma skin cancer depends on whether the tumor has certain \"high-risk\" features and if the tumor is on the eyelid.\n Staging for nonmelanoma skin cancer that is on the eyelid is different from staging for nonmelanoma skin cancer that affects other parts of the body. The following are high-risk features for nonmelanoma skin cancer that is not on the eyelid: - The tumor is thicker than 2 millimeters. - The tumor is described as Clark level IV (has spread into the lower layer of the dermis) or Clark level V (has spread into the layer of fat below the skin). - The tumor has grown and spread along nerve pathways. - The tumor began on an ear or on a lip that has hair on it. - The tumor has cells that look very different from normal cells under a microscope.\n \n \n The following stages are used for nonmelanoma skin cancer that is not on the eyelid:\n Stage 0 (Carcinoma in Situ) In stage 0, abnormal cells are found in the squamous cell or basal cell layer of the epidermis (topmost layer of the skin). These abnormal cells may become cancer and spread into nearby normal tissue. Stage 0 is also called carcinoma in situ. Stage I In stage I, cancer has formed. The tumor is not larger than 2 centimeters at its widest point and may have one high-risk feature. Stage II In stage II, the tumor is either: - larger than 2 centimeters at its widest point; or - any size and has two or more high-risk features. Stage III In stage III: - The tumor has spread to the jaw, eye socket, or side of the skull. Cancer may have spread to one lymph node on the same side of the body as the tumor. The lymph node is not larger than 3 centimeters. or - Cancer has spread to one lymph node on the same side of the body as the tumor. The lymph node is not larger than 3 centimeters and one of the following is true: - the tumor is not larger than 2 centimeters at its widest point and may have one high-risk feature; or - the tumor is larger than 2 centimeters at its widest point; or - the tumor is any size and has two or more high-risk features. Stage IV In stage IV, one of the following is true: - The tumor is any size and may have spread to the jaw, eye socket, or side of the skull. Cancer has spread to one lymph node on the same side of the body as the tumor and the affected node is larger than 3 centimeters but not larger than 6 centimeters, or cancer has spread to more than one lymph node on one or both sides of the body and the affected nodes are not larger than 6 centimeters; or - The tumor is any size and may have spread to the jaw, eye socket, skull, spine, or ribs. Cancer has spread to one lymph node that is larger than 6 centimeters; or - The tumor is any size and has spread to the base of the skull, spine, or ribs. Cancer may have spread to the lymph nodes; or - Cancer has spread to other parts of the body, such as the lung.\n \n \n The following stages are used for nonmelanoma skin cancer on the eyelid:\n Stage 0 (Carcinoma in Situ) In stage 0, abnormal cells are found in the epidermis (topmost layer of the skin). These abnormal cells may become cancer and spread into nearby normal tissue. Stage 0 is also called carcinoma in situ. Stage I Stage I is divided into stages IA, IB, and IC. - Stage IA: The tumor is 5 millimeters or smaller and has not spread to the connective tissue of the eyelid or to the edge of the eyelid where the lashes are. - Stage IB: The tumor is larger than 5 millimeters but not larger than 10 millimeters or has spread to the connective tissue of the eyelid, or to the edge of the eyelid where the lashes are. - Stage IC: The tumor is larger than 10 millimeters but not larger than 20 millimeters or has spread through the full thickness of the eyelid. Stage II In stage II, one of the following is true: - The tumor is larger than 20 millimeters. - The tumor has spread to nearby parts of the eye or eye socket. - The tumor has spread to spaces around the nerves in the eyelid. Stage III Stage III is divided into stages IIIA, IIIB, and IIIC. - Stage IIIA: To remove all of the tumor, the whole eye and part of the optic nerve must be removed. The bone, muscles, fat, and connective tissue around the eye may also be removed. - Stage IIIB: The tumor may be anywhere in or near the eye and has spread to nearby lymph nodes. - Stage IIIC: The tumor has spread to structures around the eye or in the face, or to the brain, and cannot be removed in surgery. Stage IV The tumor has spread to distant parts of the body.\n \n \n Treatment is based on the type of nonmelanoma skin cancer or other skin condition diagnosed:\n Basal cell carcinoma Basal cell carcinoma is the most common type of skin cancer. It usually occurs on areas of the skin that have been in the sun, most often the nose. Often this cancer appears as a raised bump that looks smooth and pearly. Another type looks like a scar and is flat and firm and may be white, yellow, or waxy. Basal cell carcinoma may spread to tissues around the cancer, but it usually does not spread to other parts of the body. Squamous cell carcinoma Squamous cell carcinoma occurs on areas of the skin that have been in the sun, such as the ears, lower lip, and the back of the hands. Squamous cell carcinoma may also appear on areas of the skin that have been burned or exposed to chemicals or radiation. Often this cancer appears as a firm red bump. The tumor may feel scaly, bleed, or form a crust. Squamous cell tumors may spread to nearby lymph nodes. Squamous cell carcinoma that has not spread can usually be cured. Actinic keratosis Actinic keratosis is a skin condition that is not cancer, but sometimes changes into squamous cell carcinoma. It usually occurs in areas that have been exposed to the sun, such as the face, the back of the hands, and the lower lip. It looks like rough, red, pink, or brown scaly patches on the skin that may be flat or raised, or the lower lip cracks and peels and is not helped by lip balm or petroleum jelly.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Breast Cancer ?"}, {"role": "assistant", "content": "Breast cancer affects one in eight women during their lives. Breast cancer kills more women in the United States than any cancer except lung cancer. No one knows why some women get breast cancer, but there are a number of risk factors. Risks that you cannot change include - Age - the chance of getting breast cancer rises as a woman gets older - Genes - there are two genes, BRCA1 and BRCA2, that greatly increase the risk. Women who have family members with breast or ovarian cancer may wish to be tested. - Personal factors - beginning periods before age 12 or going through menopause after age 55 Other risks include being overweight, using hormone replacement therapy (also called menopausal hormone therapy), taking birth control pills, drinking alcohol, not having children or having your first child after age 35 or having dense breasts. Symptoms of breast cancer may include a lump in the breast, a change in size or shape of the breast or discharge from a nipple. Breast self-exam and mammography can help find breast cancer early when it is most treatable. Treatment may consist of radiation, lumpectomy, mastectomy, chemotherapy and hormone therapy. Men can have breast cancer, too, but the number of cases is small. NIH: National Cancer Institute", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by phosphoribosylpyrophosphate synthetase superactivity ?"}, {"role": "assistant", "content": "PRS superactivity is believed to be a rare disorder. Approximately 30 families with the condition have been reported. More than two thirds of these families are affected by the milder form of the disease.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) globozoospermia ?"}, {"role": "assistant", "content": "Globozoospermia is a condition that affects only males. It is characterized by abnormal sperm and leads to an inability to father biological children (infertility). Normal sperm cells have an oval-shaped head with a cap-like covering called the acrosome. The acrosome contains enzymes that break down the outer membrane of an egg cell, allowing the sperm to fertilize the egg. The sperm cells of males with globozoospermia, however, have a round head and no acrosome. The abnormal sperm are unable to fertilize an egg cell, leading to infertility.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Weaver syndrome ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of Weaver syndrome: - Genetic Testing Registry: Weaver syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is laryngo-onycho-cutaneous syndrome inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Dermatoosteolysis Kirghizian type ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Dermatoosteolysis Kirghizian type? The Human Phenotype Ontology provides the following list of signs and symptoms for Dermatoosteolysis Kirghizian type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal diaphysis morphology 90% Abnormality of temperature regulation 90% Abnormality of the fingernails 90% Abnormality of the metaphyses 90% Abnormality of the toenails 90% Abnormality of the wrist 90% Aplasia/Hypoplasia of the skin 90% Arthralgia 90% Brachydactyly syndrome 90% Inflammatory abnormality of the eye 90% Nyctalopia 90% Osteoarthritis 90% Osteolysis 90% Reduced number of teeth 90% Scoliosis 90% Skin ulcer 90% Tarsal synostosis 90% Upper limb phocomelia 90% Ankle swelling - Autosomal recessive inheritance - Blindness - Broad foot - Fever - Flexion contracture - Infantile onset - Joint contracture of the hand - Keratitis - Nail dysplasia - Nail dystrophy - Oligodontia - Split hand - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for hystrix-like ichthyosis with deafness ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of hystrix-like ichthyosis with deafness: - Foundation for Ichthyosis and Related Skin Types: Ichthyosis Hystrix - Genetic Testing Registry: Hystrix-like ichthyosis with deafness These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for antiphospholipid syndrome ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of antiphospholipid syndrome: - Genetic Testing Registry: Antiphospholipid syndrome - Hughes Syndrome Foundation: Diagnosis: How To Get Tested - Hughes Syndrome Foundation: Treatment and Medication: Current Advice and Information - National Heart Lung and Blood Institute: How Is Antiphospholipid Antibody Syndrome Treated? These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Nonalcoholic Steatohepatitis ?"}, {"role": "assistant", "content": "Currently, no specific therapies for NASH exist. The most important recommendations given to persons with this disease are to\n \n- reduce their weight (if obese or overweight) - follow a balanced and healthy diet - increase physical activity - avoid alcohol - avoid unnecessary medications\n \nThese are standard recommendations, but they can make a difference. They are also helpful for other conditions, such as heart disease, diabetes, and high cholesterol.\n \nA major attempt should be made to lower body weight into the healthy range. Weight loss can improve liver tests in patients with NASH and may reverse the disease to some extent. Research at present is focusing on how much weight loss improves the liver in patients with NASH and whether this improvement lasts over a period of time.\n \nPeople with NASH often have other medical conditions, such as diabetes, high blood pressure, or elevated cholesterol. These conditions should be treated with medication and adequately controlled; having NASH or elevated liver enzymes should not lead people to avoid treating these other conditions.\n \nExperimental approaches under evaluation in patients with NASH include antioxidants, such as vitamin E, selenium, and betaine. These medications act by reducing the oxidative stress that appears to increase inside the liver in patients with NASH. Whether these substances actually help treat the disease is not known, but the results of clinical trials should become available in the next few years.\n \nAnother experimental approach to treating NASH is the use of newer antidiabetic medicationseven in persons without diabetes. Most patients with NASH have insulin resistance, meaning that the insulin normally present in the bloodstream is less effective for them in controlling blood glucose and fatty acids in the blood than it is for people who do not have NASH. The newer antidiabetic medications make the body more sensitive to insulin and may help reduce liver injury in patients with NASH. Studies of these medicationsincluding metformin, rosiglitazone, and pioglitazoneare being sponsored by the National Institutes of Health and should answer the question of whether these medications are beneficial in NASH.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Crouzon syndrome ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of Crouzon syndrome: - Gene Review: Gene Review: FGFR-Related Craniosynostosis Syndromes - Genetic Testing Registry: Crouzon syndrome - MedlinePlus Encyclopedia: Craniosynostosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Inflammatory Myopathies ?"}, {"role": "assistant", "content": "The chronic inflammatory myopathies cant be cured in most adults but many of the symptoms can be treated. Options include medication, physical therapy, exercise, heat therapy (including microwave and ultrasound), orthotics and assistive devices, and rest. Polymyositis and dermatomyositis are first treated with high doses of prednisone or another corticosteroid drug. This is most often given as an oral medication but can be delivered intravenously. Immunosuppressant drugs, such as azathioprine and methotrexate, may reduce inflammation in people who do not respond well to prednisone. IBM has no standard course of treatment. The disease is generally unresponsive to corticosteroids and immunosuppressive drugs.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by ataxia with vitamin E deficiency ?"}, {"role": "assistant", "content": "Ataxia with vitamin E deficiency is a rare condition; however, its prevalence is unknown.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Hereditary lymphedema type II ?"}, {"role": "assistant", "content": "Hereditary lymphedema type II is a primary lymphedema that results from abnormal transport of lymph fluid. Individuals with this condition usually develop swelling in the lower legs and feet during puberty. Some affected individuals develop a non-contagious skin infection called cellulitis, which can further damage the lymphatic vessels (the thin tubes that carry lymph fluid). While the cause of hereditary lymphedema type II is unknown, it is thought to be genetic because it tends to run in families. It appears to have an autosomal dominant pattern of inheritance.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Phacomatosis pigmentovascularis ?"}, {"role": "assistant", "content": "What causes phacomatosis pigmentovascularis? Phacomatosis pigmentovascularis (PPV) is thought to occur as a result of a change in the arrangement of a small piece of genetic material in a developing embryo. Because of this change some of the baby's body cells carry two copies of recessive gene mutations while the majority of his or her body cells carry only one. Having two copies of the recessive gene mutations result in a diseased cell (and symptoms of PPV). This phenomenon is called twin spotting. PPV occurs by chance, it is not inherited, and affects only a subset of the body's cells. As a result risk to future offspring is very small.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Robinow syndrome inherited ?"}, {"role": "assistant", "content": "How is Robinow syndrome inherited? Robinow syndrome may be inherited in an autosomal recessive or autosomal dominant manner. Autosomal recessive (AR) inheritance means both copies of the responsible gene in each cell must have a mutation for a person to be affected. The parents of a person with AR Robinow syndrome usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically are unaffected. When two carriers of AR Robinow syndrome have children together, each child has a 25% (1 in 4) chance to be affected, a 50% (1 in 2) chance to be an unaffected carrier like each parent, and a 25% chance to be unaffected and not a carrier. Autosomal dominant (AD) inheritance means that having only one mutated copy of the responsible gene in each cell is enough to cause features of the condition. Some people with AD Robinow syndrome inherit the mutated gene from an affected parent. In other cases, the mutation that causes the condition occurs for the first time in the affected person. When a person with AD Robinow syndrome has children, each child has a 50% chance to inherit the mutated gene.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by McLeod neuroacanthocytosis syndrome ?"}, {"role": "assistant", "content": "McLeod neuroacanthocytosis syndrome is rare; approximately 150 cases have been reported worldwide.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Congenital disorders of glycosylation ?"}, {"role": "assistant", "content": "Congenital disorders of glycosylation (CDG) are a group of inherited metabolic disorders that affect a process called glycosylation. Glycosylation is the complex process by which all human cells build long sugar chains that are attached to proteins, which are called glycoproteins. There are many steps involved in this process, and each step is triggered by a type of protein called an enzyme. Individuals with a CDG are missing one of the enzymes that is required for glycosylation. The type of CDG that a person has depends on which enzyme is missing. Currently, there are 19 identified types of CDG. CDG type IA is the most common form. The symptoms of CDG vary widely among affected individuals. Some people have severe developmental delay, failure to thrive, and multiple organ problems, while others have diarrhea, low blood sugar (hypoglycemia), liver problems, and normal developmental potential.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of IgA Nephropathy ?"}, {"role": "assistant", "content": "In its early stages, IgA nephropathy may have no symptoms; it can be silent for years or even decades. Once symptoms appear, the most common one is hematuria, or blood in the urine. Hematuria can be a sign of damaged glomeruli. Blood in the urine may appear during or soon after a cold, sore throat, or other respiratory infection. The amount of blood may be\n \n- visible with the naked eye. The urine may turn pink or the color of tea or cola. Sometimes a person may have dark or bloody urine. - so small that it can only be detected using special medical tests.\n \nAnother symptom of IgA nephropathy is albuminuriawhen a persons urine contains an increased amount of albumin, a protein typically found in the blood, or large amounts of protein in the urine. Albumin is the main protein in the blood. Healthy kidneys keep most proteins in the blood from leaking into the urine. However, when the glomeruli are damaged, large amounts of protein leak out of the blood into the urine.\n \nWhen albumin leaks into the urine, the blood loses its capacity to absorb extra fluid from the body. Too much fluid in the body may cause edema, or swelling, usually in the legs, feet, or ankles and less often in the hands or face. Foamy urine is another sign of albuminuria. Some people with IgA nephropathy have both hematuria and albuminuria.\n \nAfter 10 to 20 years with IgA nephropathy, about 20 to 40 percent of adults develop end-stage kidney disease.5 Signs and symptoms of end-stage kidney disease may include\n \n- high blood pressure - little or no urination - edema - feeling tired - drowsiness - generalized itching or numbness - dry skin - headaches - weight loss - appetite loss - nausea - vomiting - sleep problems - trouble concentrating - darkened skin - muscle cramps", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "what research (or clinical trials) is being done for Olivopontocerebellar Atrophy ?"}, {"role": "assistant", "content": "The NINDS supports and conducts a broad range of basic and clinical research on cerebellar degeneration, including work aimed at finding the cause(s) of OPCA and ways to treat, cure, and, ultimately, prevent the disease. There has been great progress recently since the genes for several of the hereditary forms of OPCA have been found.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Gerstmann-Straussler-Scheinker disease ?"}, {"role": "assistant", "content": "How might Gerstmann-Straussler-Scheinker disease be treated? The treatment of Gerstmann-Straussler-Scheinker disease (GSS) is based on the signs and symptoms present in each person. There is currently no cure for the condition and no known treatments to slow its progression. GeneReviews' Web site offers more specific information about the treatment and management of GSS and other genetic prion diseases. Please click on the link to access this resource.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Tangier disease ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of Tangier disease: - Genetic Testing Registry: Tangier disease These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Mondini dysplasia ?"}, {"role": "assistant", "content": "Is genetic testing available for Mondini dysplasia? Genetic testing may be available for Mondini dysplasia if it is associated with a specific syndrome for which genetic testing is available, or if a mutation has previously been identified in an affected individual in the family. Unfortunately, for many cases of isolated Mondini dysplasia, there is no clinical genetic testing available. GeneTests lists the names of laboratories that are performing genetic testing for many conditions that may be associated with Mondini dysplasia. Please note that most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Balance Problems ?"}, {"role": "assistant", "content": "Some balance disorders are caused by problems in the inner ear. The part of the inner ear that is responsible for balance is the vestibular system, often refered to as the labyrinth. When the labyrinth becomes infected or swollen -- a condition called labyrinthitis -- it is typically accompanied by vertigo and imbalance. Upper respiratory infections, other viral infections, and, less commonly, bacterial infections, can lead to labyrinthitis. Other balance disorders may involve another part of the body, such as the brain or the heart. For example, diseases of the circulatory system, such as stroke, can cause dizziness and other balance problems. Smoking and diabetes can increase the risk of stroke. Low blood pressure also can cause dizziness. Aging, infections, head injury, and many medicines may also result in a balance problem.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Diverticulosis and Diverticulitis ?"}, {"role": "assistant", "content": "Diverticula are small pouches that bulge outward through the colon, or large intestine. If you have these pouches, you have a condition called diverticulosis. It becomes more common as people age. About half of all people over age 60 have it. Doctors believe the main cause is a low-fiber diet. Most people with diverticulosis don't have symptoms. Sometimes it causes mild cramps, bloating or constipation. Diverticulosis is often found through tests ordered for something else. For example, it is often found during a colonoscopy to screen for cancer. A high-fiber diet and mild pain reliever will often relieve symptoms. If the pouches become inflamed or infected, you have a condition called diverticulitis. The most common symptom is abdominal pain, usually on the left side. You may also have fever, nausea, vomiting, chills, cramping, and constipation. In serious cases, diverticulitis can lead to bleeding, tears, or blockages. Your doctor will do a physical exam and imaging tests to diagnose it. Treatment may include antibiotics, pain relievers, and a liquid diet. A serious case may require a hospital stay or surgery. NIH: National Institute of Diabetes and Digestive and Kidney Diseases", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by Crouzonodermoskeletal syndrome ?"}, {"role": "assistant", "content": "Crouzonodermoskeletal syndrome is rare; this condition is seen in about 1 person per million.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) dentatorubral-pallidoluysian atrophy ?"}, {"role": "assistant", "content": "Dentatorubral-pallidoluysian atrophy, commonly known as DRPLA, is a progressive brain disorder that causes involuntary movements, mental and emotional problems, and a decline in thinking ability. The average age of onset of DRPLA is 30 years, but this condition can appear anytime from infancy to mid-adulthood. The signs and symptoms of DRPLA differ somewhat between affected children and adults. When DRPLA appears before age 20, it most often involves episodes of involuntary muscle jerking or twitching (myoclonus), seizures, behavioral changes, intellectual disability, and problems with balance and coordination (ataxia). When DRPLA begins after age 20, the most frequent signs and symptoms are ataxia, uncontrollable movements of the limbs (choreoathetosis), psychiatric symptoms such as delusions, and deterioration of intellectual function (dementia).", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Parenting ?"}, {"role": "assistant", "content": "If you're a parent, you get plenty of suggestions on how to raise your child. From experts to other parents, people are always ready to offer advice. Parenting tips, parents' survival guides, dos, don'ts, shoulds and shouldn'ts - new ones come out daily. The truth is there is more than one \"right\" way to be a good parent. Good parenting includes - Keeping your child safe - Showing affection and listening to your child - Providing order and consistency - Setting and enforcing limits - Spending time with your child - Monitoring your child's friendships and activities - Leading by example NIH: National Institute of Child Health and Human Development", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by PDGFRA-associated chronic eosinophilic leukemia ?"}, {"role": "assistant", "content": "PDGFRA-associated chronic eosinophilic leukemia is a rare condition; however, the exact prevalence is unknown.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes ARDS ?"}, {"role": "assistant", "content": "Many conditions or factors can directly or indirectly injure the lungs and lead to ARDS. Some common ones are:\n \nSepsis. This is a condition in which bacteria infect the bloodstream.\n \nPneumonia. This is an infection in the lungs.\n \nSevere bleeding caused by an injury to the body.\n \nAn injury to the chest or head, like a severe blow.\n \nBreathing in harmful fumes or smoke.\n \nInhaling vomited stomach contents from the mouth.\n \nIt's not clear why some very sick or seriously injured people develop ARDS and others don't. Researchers are trying to find out why ARDS develops and how to prevent it.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to rheumatoid arthritis ?"}, {"role": "assistant", "content": "Rheumatoid arthritis probably results from a combination of genetic and environmental factors, many of which are unknown. Rheumatoid arthritis is classified as an autoimmune disorder, one of a large group of conditions that occur when the immune system attacks the body's own tissues and organs. In people with rheumatoid arthritis, the immune system triggers abnormal inflammation in the membrane that lines the joints (the synovium). When the synovium is inflamed, it causes pain, swelling, and stiffness of the joint. In severe cases, the inflammation also affects the bone, cartilage, and other tissues within the joint, causing more serious damage. Abnormal immune reactions also underlie the features of rheumatoid arthritis affecting other parts of the body. Variations in dozens of genes have been studied as risk factors for rheumatoid arthritis. Most of these genes are known or suspected to be involved in immune system function. The most significant genetic risk factors for rheumatoid arthritis are variations in human leukocyte antigen (HLA) genes, especially the HLA-DRB1 gene. The proteins produced from HLA genes help the immune system distinguish the body's own proteins from proteins made by foreign invaders (such as viruses and bacteria). Changes in other genes appear to have a smaller impact on a person's overall risk of developing the condition. Other, nongenetic factors are also believed to play a role in rheumatoid arthritis. These factors may trigger the condition in people who are at risk, although the mechanism is unclear. Potential triggers include changes in sex hormones (particularly in women), occupational exposure to certain kinds of dust or fibers, and viral or bacterial infections. Long-term smoking is a well-established risk factor for developing rheumatoid arthritis; it is also associated with more severe signs and symptoms in people who have the disease.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for atelosteogenesis type 2 ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of atelosteogenesis type 2: - Gene Review: Gene Review: Atelosteogenesis Type 2 - Genetic Testing Registry: Atelosteogenesis type 2 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Milroy disease ?"}, {"role": "assistant", "content": "Milroy disease is a condition that affects the normal function of the lymphatic system. The lymphatic system produces and transports fluids and immune cells throughout the body. Impaired transport with accumulation of lymph fluid can cause swelling (lymphedema). Individuals with Milroy disease typically have lymphedema in their lower legs and feet at birth or develop it in infancy. The lymphedema typically occurs on both sides of the body and may worsen over time. Milroy disease is associated with other features in addition to lymphedema. Males with Milroy disease are sometimes born with an accumulation of fluid in the scrotum (hydrocele). Males and females may have upslanting toenails, deep creases in the toes, wart-like growths (papillomas), and prominent leg veins. Some individuals develop non-contagious skin infections called cellulitis that can damage the thin tubes that carry lymph fluid (lymphatic vessels). Episodes of cellulitis can cause further swelling in the lower limbs.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Xeroderma pigmentosum type 7 ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Xeroderma pigmentosum type 7? The Human Phenotype Ontology provides the following list of signs and symptoms for Xeroderma pigmentosum type 7. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Ataxia 5% Cataract 5% Growth delay 5% Microcephaly 5% Microphthalmia 5% Pes cavus 5% Spasticity 5% Tremor 5% Autosomal recessive inheritance - Cutaneous photosensitivity - Defective DNA repair after ultraviolet radiation damage - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Spondylocostal dysostosis 2 ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Spondylocostal dysostosis 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondylocostal dysostosis 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal form of the vertebral bodies 90% Abnormality of immune system physiology 90% Abnormality of the intervertebral disk 90% Abnormality of the ribs 90% Intrauterine growth retardation 90% Respiratory insufficiency 90% Scoliosis 90% Short neck 90% Short stature 90% Short thorax 90% Vertebral segmentation defect 90% Kyphosis 50% Restrictive respiratory insufficiency 44% Abnormality of female internal genitalia 7.5% Abnormality of the ureter 7.5% Anomalous pulmonary venous return 7.5% Anteverted nares 7.5% Broad forehead 7.5% Camptodactyly of finger 7.5% Cleft palate 7.5% Cognitive impairment 7.5% Congenital diaphragmatic hernia 7.5% Cryptorchidism 7.5% Depressed nasal bridge 7.5% Displacement of the external urethral meatus 7.5% Finger syndactyly 7.5% Long philtrum 7.5% Low-set, posteriorly rotated ears 7.5% Macrocephaly 7.5% Meningocele 7.5% Microcephaly 7.5% Prominent occiput 7.5% Spina bifida occulta 7.5% Umbilical hernia 7.5% Urogenital fistula 7.5% Autosomal recessive inheritance - Disproportionate short-trunk short stature - Recurrent respiratory infections - Rib fusion - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Langerhans Cell Histiocytosis ?"}, {"role": "assistant", "content": "These and other signs and symptoms may be caused by LCH or by other conditions. Check with your doctor if you or your child have any of the following: Skin and nails LCH in infants may affect the skin only. In some cases, skin-only LCH may get worse over weeks or months and become a form called high-risk multisystem LCH. In infants, signs or symptoms of LCH that affects the skin may include: - Flaking of the scalp that may look like cradle cap. - Raised, brown or purple skin rash anywhere on the body. In children and adults, signs or symptoms of LCH that affects the skin and nails may include: - Flaking of the scalp that may look like dandruff. - Raised, red or brown, crusted rash in the groin area, abdomen, back, or chest, that may be itchy. - Bumps or ulcers on the scalp. - Ulcers behind the ears, under the breasts, or in the groin area. - Fingernails that fall off or have discolored grooves that run the length of the nail. Mouth Signs or symptoms of LCH that affects the mouth may include: - Swollen gums. - Sores on the roof of the mouth, inside the cheeks, or on the tongue or lips. - Teeth that become uneven. - Tooth loss. Bone Signs or symptoms of LCH that affects the bone may include: - Swelling or a lump over a bone, such as the skull, ribs, spine, thigh bone, upper arm bone, elbow, eye socket, or bones around the ear. - Pain where there is swelling or a lump over a bone. Children with LCH lesions in bones around the ears or eyes have a high risk for diabetes insipidus and other central nervous system disease. Lymph nodes and thymus Signs or symptoms of LCH that affects the lymph nodes or thymus may include: - Swollen lymph nodes. - Trouble breathing. - Superior vena cava syndrome. This can cause coughing, trouble breathing, and swelling of the face, neck, and upper arms. Endocrine system Signs or symptoms of LCH that affects the pituitary gland may include: - Diabetes insipidus. This can cause a strong thirst and frequent urination. - Slow growth. - Early or late puberty. - Being very overweight. Signs or symptoms of LCH that affects the thyroid may include: - Swollen thyroid gland. - Hypothyroidism. This can cause tiredness, lack of energy, being sensitive to cold, constipation, dry skin, thinning hair, memory problems, trouble concentrating, and depression. In infants, this can also cause a loss of appetite and choking on food. In children and adolescents, this can also cause behavior problems, weight gain, slow growth, and late puberty. - Trouble breathing. Central nervous system (CNS) Signs or symptoms of LCH that affects the CNS (brain and spinal cord) may include: - Loss of balance, uncoordinated body movements, and trouble walking. - Trouble speaking. - Trouble seeing. - Headaches. - Changes in behavior or personality. - Memory problems. These signs and symptoms may be caused by lesions in the CNS or by CNS neurodegenerative syndrome. Liver and spleen Signs or symptoms of LCH that affects the liver or spleen may include: - Swelling in the abdomen caused by a buildup of extra fluid. - Trouble breathing. - Yellowing of the skin and whites of the eyes. - Itching. - Easy bruising or bleeding. - Feeling very tired. Lung Signs or symptoms of LCH that affects the lung may include: - Collapsed lung. This condition can cause chest pain or tightness, trouble breathing, feeling tired, and a bluish color to the skin. - Trouble breathing, especially in adults who smoke. - Dry cough. - Chest pain. Bone marrow Signs or symptoms of LCH that affects the bone marrow may include: - Easy bruising or bleeding. - Fever. - Frequent infections.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Severe combined immunodeficiency inherited ?"}, {"role": "assistant", "content": "How is severe combined immunodeficiency inherited? Severe combined immunodeficiency (SCID) can be inherited in an X-linked recessive or autosomal recessive manner depending on the genetic cause of the condition. X-linked SCID is the most common type of SCID and is inherited in an X-linked recessive manner. A condition is X-linked if the changed (mutated) gene responsible for the condition is located on the X chromosome. The X chromosome is one of the two sex chromosomes; females have two X chromosomes and males have one X chromosome and one Y chromosome. In males, one mutated copy of the responsible gene causes signs and symptoms of the condition because they don't have another X chromosome with a working copy of the gene. In females, having one mutated copy of the gene would make them an unaffected carrier; a mutation would have to occur in both copies of the gene to cause the condition. This is why X-linked recessive disorders, including X-linked SCID, occur much more frequently in males. Because fathers only pass their Y chromosome on to their sons, fathers cannot pass X-linked conditions on to their sons. The other, less common causes of SCID are inherited in an autosomal recessive manner. These types are due to mutations in responsible genes on other chromosomes (not the sex chromosomes). In autosomal recessive conditions, a person must have mutations in both copies of the responsible gene in order to have signs or symptoms of the condition. In most cases, the affected person inherits one mutated copy of the gene from each of the parents, who are typically unaffected carriers.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Achondrogenesis ?"}, {"role": "assistant", "content": "What causes achondrogenesis? Research has shown that changes (mutations) in the SLC26A2 and COL2A1 genes cause achondrogenesis types 1B and 2, respectively. The genetic cause of achondrogenesis type 1A remains unknown. The SLC26A2 gene provides instructions for making a protein that is important for the normal development of cartilage and for the conversion of cartilage to bone. The COL2A1 gene provides instructions for making a protein that forms a type of collagen found mostly in cartilage and in the clear gel that fills the eyeball (vitreous). Mutations in these genes result in the production of proteins that are unable to properly perform their jobs within the body.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Geniospasm ?"}, {"role": "assistant", "content": "How might hereditary geniospasm be treated? Hereditary geniospasm, which may also be referred to as hereditary essential chin myoclonus, is generally considered a benign disorder although in some cases it can cause anxiety and social embarrassment. Significant improvement with age has been reported. Several drugs are used to treat myoclonus, such as benzodiazepines and anticonvulsants. However, individuals may not respond to a single medication and may experience significant side effects if a combination of drugs is used. It has also been suggested that botulinum toxin be considered as a primary treatment because it has been shown to be effective and well tolerated.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Amyotonia congenita ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Amyotonia congenita? The Human Phenotype Ontology provides the following list of signs and symptoms for Amyotonia congenita. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Skeletal muscle atrophy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "what research (or clinical trials) is being done for Locked-In Syndrome ?"}, {"role": "assistant", "content": "The NINDS supports research on neurological disorders that can cause locked-in syndrome. The goals of this research are to find ways to prevent, treat, and cure these disorders.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Adult Non-Hodgkin Lymphoma ?"}, {"role": "assistant", "content": "Key Points\n - Adult non-Hodgkin lymphoma is a disease in which malignant (cancer) cells form in the lymph system. - The major types of lymphoma are Hodgkin lymphoma and non-Hodgkin lymphoma. - Non-Hodgkin lymphoma can be indolent or aggressive. - Age, gender, and a weakened immune system can affect the risk of adult non-Hodgkin lymphoma. - Signs and symptoms of adult non-Hodgkin lymphoma include swelling in the lymph nodes, fever, night sweats, weight loss, and fatigue. - Tests that examine the body and lymph system are used to help detect (find) and diagnose adult non-Hodgkin lymphoma. - Certain factors affect prognosis (chance of recovery) and treatment options.\n \n \n Adult non-Hodgkin lymphoma is a disease in which malignant (cancer) cells form in the lymph system.\n Non-Hodgkin lymphoma is a type of cancer that forms in the lymph system, which is part of the body's immune system. The immune system protects the body from foreign substances, infection, and diseases. The lymph system is made up of the following: - Lymph: Colorless, watery fluid that carries white blood cells called lymphocytes through the lymph system. Lymphocytes protect the body against infection and the growth of tumors. There are three types of lymphocytes: - B lymphocytes that make antibodies to help fight infection. Also called B cells. Most types of non-Hodgkin lymphoma begin in B lymphocytes. - T lymphocytes that help B lymphocytes make the antibodies that help fight infection. Also called T cells. - Natural killer cells that attack cancer cells and viruses. Also called NK cells. Non-Hodgkin lymphoma can begin in B lymphocytes, T lymphocytes, or natural killer cells. Lymphocytes can also be found in the blood and also collect in the lymph nodes, spleen, and thymus. - Lymph vessels: A network of thin tubes that collect lymph from different parts of the body and return it to the bloodstream. - Lymph nodes: Small, bean-shaped structures that filter lymph and store white blood cells that help fight infection and disease. Lymph nodes are located along the network of lymph vessels found throughout the body. Clusters of lymph nodes are found in the neck, underarm, abdomen, pelvis, and groin. - Spleen: An organ that makes lymphocytes, filters the blood, stores blood cells, and destroys old blood cells. It is on the left side of the abdomen near the stomach. - Thymus: An organ in which lymphocytes grow and multiply. The thymus is in the chest behind the breastbone. - Tonsils: Two small masses of lymph tissue at the back of the throat. The tonsils make lymphocytes. - Bone marrow: The soft, spongy tissue in the center of large bones. Bone marrow makes white blood cells, red blood cells, and platelets. Lymph tissue is also found in other parts of the body such as the stomach, thyroid gland, brain, and skin. Cancer can spread to the liver and lungs. Non-Hodgkin lymphoma during pregnancy is rare. Non-Hodgkin lymphoma in pregnant women is the same as the disease in nonpregnant women of childbearing age. However, treatment is different for pregnant women. This summary includes information on the treatment of non-Hodgkin lymphoma during pregnancy (see the Treatment Options for Non-Hodgkin Lymphoma During Pregnancy section for more information). Non-Hodgkin lymphoma can occur in both adults and children. Treatment for adults is different than treatment for children. (See the PDQ summary on Childhood Non-Hodgkin Lymphoma Treatment for more information.)\n \n \n The major types of lymphoma are Hodgkin lymphoma and non-Hodgkin lymphoma.\n Lymphomas are divided into two general types: Hodgkin lymphoma and non-Hodgkin lymphoma. This summary is about the treatment of adult non-Hodgkin lymphoma. For information about certain types of lymphoma, see the following PDQ summaries: - Adult Acute Lymphoblastic Leukemia Treatment (lymphoblastic lymphoma) - Adult Hodgkin Lymphoma Treatment - AIDS-Related Lymphoma Treatment - Chronic Lymphocytic Leukemia Treatment (small lymphocytic lymphoma) - Mycosis Fungoides and the Szary Syndrome Treatment (cutaneous T-cell lymphoma) - Primary CNS Lymphoma Treatment\n \n \n Non-Hodgkin lymphoma can be indolent or aggressive.\n Non-Hodgkin lymphoma grows and spreads at different rates and can be indolent or aggressive. Indolent lymphoma tends to grow and spread slowly, and has few signs and symptoms. Aggressive lymphoma grows and spreads quickly, and has signs and symptoms that can be severe. The treatments for indolent and aggressive lymphoma are different. This summary is about the following types of non-Hodgkin lymphoma: Indolent non-Hodgkin lymphomas - Follicular lymphoma. Follicular lymphoma is the most common type of indolent non-Hodgkin lymphoma. It is a very slow-growing type of non-Hodgkin lymphoma that begins in B lymphocytes. It affects the lymph nodes and may spread to the bone marrow or spleen. Most patients with follicular lymphoma are age 50 years and older when they are diagnosed. Follicular lymphoma may go away without treatment. The patient is closely watched for signs or symptoms that the disease has come back. Treatment is needed if signs or symptoms occur after the cancer disappeared or after initial cancer treatment. Sometimes follicular lymphoma can become a more aggressive type of lymphoma, such as diffuse large B-cell lymphoma. - Lymphoplasmacytic lymphoma. In most cases of lymphoplasmacytic lymphoma, B lymphocytes that are turning into plasma cells make large amounts of a protein called monoclonal immunoglobulin M (IgM) antibody. High levels of IgM antibody in the blood cause the blood plasma to thicken. This may cause signs or symptoms such as trouble seeing or hearing, heart problems, shortness of breath, headache, dizziness, and numbness or tingling of the hands and feet. Sometimes there are no signs or symptoms of lymphoplasmacytic lymphoma. It may be found when a blood test is done for another reason. Lymphoplasmacytic lymphoma often spreads to the bone marrow, lymph nodes, and spleen. It is also called Waldenstrm macroglobulinemia. - Marginal zone lymphoma. This type of non-Hodgkin lymphoma begins in B lymphocytes in a part of lymph tissue called the marginal zone. There are five different types of marginal zone lymphoma. They are grouped by the type of tissue where the lymphoma formed: - Nodal marginal zone lymphoma. Nodal marginal zone lymphoma forms in lymph nodes. This type of non-Hodgkin lymphoma is rare. It is also called monocytoid B-cell lymphoma. - Gastric mucosa-associated lymphoid tissue (MALT) lymphoma. Gastric MALT lymphoma usually begins in the stomach. This type of marginal zone lymphoma forms in cells in the mucosa that help make antibodies. Patients with gastric MALT lymphoma may also have Helicobacter gastritis or an autoimmune disease, such as Hashimoto thyroiditis or Sjgren syndrome. - Extragastric MALT lymphoma. Extragastric MALT lymphoma begins outside of the stomach in almost every part of the body including other parts of the gastrointestinal tract, salivary glands, thyroid, lung, skin, and around the eye. This type of marginal zone lymphoma forms in cells in the mucosa that help make antibodies. Extragastric MALT lymphoma may come back many years after treatment. - Mediterranean abdominal lymphoma. This is a type of MALT lymphoma that occurs in young adults in eastern Mediterranean countries. It often forms in the abdomen and patients may also be infected with bacteria called Campylobacter jejuni. This type of lymphoma is also called immunoproliferative small intestinal disease. - Splenic marginal zone lymphoma. This type of marginal zone lymphoma begins in the spleen and may spread to the peripheral blood and bone marrow. The most common sign of this type of splenic marginal zone lymphoma is a spleen that is larger than normal. - Primary cutaneous anaplastic large cell lymphoma. This type of non-Hodgkin lymphoma is in the skin only. It can be a benign (not cancer) nodule that may go away on its own or it can spread to many places on the skin and need treatment. Aggressive non-Hodgkin lymphomas - Diffuse large B-cell lymphoma. Diffuse large B-cell lymphoma is the most common type of non-Hodgkin lymphoma. It grows quickly in the lymph nodes and often the spleen, liver, bone marrow, or other organs are also affected. Signs and symptoms of diffuse large B-cell lymphoma may include fever, recurring night sweats, and weight loss. These are also called B symptoms. Primary mediastinal large B-cell lymphoma is a type of diffuse large B-cell lymphoma. - Primary mediastinal large B-cell lymphoma. This type of non-Hodgkin lymphoma is marked by the overgrowth of fibrous (scar-like) lymph tissue. A tumor most often forms behind the breastbone. It may press on the airways and cause coughing and trouble breathing. Most patients with primary mediastinal large B-cell lymphoma are women who are age 30 to 40 years. - Follicular large cell lymphoma, stage III. Follicular large cell lymphoma, stage III, is a very rare type of non-Hodgkin lymphoma. It is more like diffuse large B-cell lymphoma than other types of follicular lymphoma. - Anaplastic large cell lymphoma. Anaplastic large cell lymphoma is a type of non-Hodgkin lymphoma that usually begins in T lymphocytes. The cancer cells also have a marker called CD30 on the surface of the cell. There are two types of anaplastic large cell lymphoma: - Cutaneous anaplastic large cell lymphoma. This type of anaplastic large cell lymphoma mostly affects the skin, but other parts of the body may also be affected. Signs of cutaneous anaplastic large cell lymphoma include one or more bumps or ulcers on the skin. - Systemic anaplastic large cell lymphoma. This type of anaplastic large cell lymphoma begins in the lymph nodes and may affect other parts of the body. Patients may have a lot of anaplastic lymphoma kinase (ALK) protein inside the lymphoma cells. These patients have a better prognosis than patients who do not have extra ALK protein. Systemic anaplastic large cell lymphoma is more common in children than adults. (See the PDQ summary on Childhood Non-Hodgkin Lymphoma Treatment for more information.) - Extranodal NK -/T-cell lymphoma. Extranodal NK-/T-cell lymphoma usually begins in the area around the nose. It may also affect the paranasal sinus (hollow spaces in the bones around the nose), roof of the mouth, trachea, skin, stomach, and intestines. Most cases of extranodal NK-/T-cell lymphoma have Epstein-Barr virus in the tumor cells. Sometimes hemophagocytic syndrome occurs (a serious condition in which there are too many active histiocytes and T cells that cause severe inflammation in the body). Treatment to suppress the immune system is needed. This type of non-Hodgkin lymphoma is not common in the United States. - Lymphomatoid granulomatosis. Lymphomatoid granulomatosis mostly affects the lungs. It may also affect the paranasal sinuses (hollow spaces in the bones around the nose), skin, kidneys, and central nervous system. In lymphomatoid granulomatosis, cancer invades the blood vessels and kills tissue. Because the cancer may spread to the brain, intrathecal chemotherapy or radiation therapy to the brain is given. - Angioimmunoblastic T-cell lymphoma. This type of non-Hodgkin lymphoma begins in T cells. Swollen lymph nodes are a common sign. Other signs may include a skin rash, fever, weight loss, or night sweats. There may also be high levels of gamma globulin (antibodies) in the blood. Patients may also have opportunistic infections because their immune systems are weakened. - Peripheral T-cell lymphoma. Peripheral T-cell lymphoma begins in mature T lymphocytes. This type of T lymphocyte matures in the thymus gland and travels to other lymphatic sites in the body such as the lymph nodes, bone marrow, and spleen. There are three subtypes of peripheral T-cell lymphoma: - Hepatosplenic T-cell lymphoma. This is an uncommon type of peripheral T-cell lymphoma that occurs mostly in young men. It begins in the liver and spleen and the cancer cells also have a T-cell receptor called gamma/delta on the surface of the cell. - Subcutaneous panniculitis-like T-cell lymphoma. Subcutaneous panniculitis-like T-cell lymphoma begins in the skin or mucosa. It may occur with hemophagocytic syndrome (a serious condition in which there are too many active histiocytes and T cells that cause severe inflammation in the body). Treatment to suppress the immune system is needed. - Enteropathy-type intestinal T-cell lymphoma. This type of peripheral T-cell lymphoma occurs in the small bowel of patients with untreated celiac disease (an immune response to gluten that causes malnutrition). Patients who are diagnosed with celiac disease in childhood and stay on a gluten-free diet rarely develop enteropathy-type intestinal T-cell lymphoma. - Intravascular large B-cell lymphoma. This type of non-Hodgkin lymphoma affects blood vessels, especially the small blood vessels in the brain, kidney, lung, and skin. Signs and symptoms of intravascular large B-cell lymphoma are caused by blocked blood vessels. It is also called intravascular lymphomatosis. - Burkitt lymphoma. Burkitt lymphoma is a type of B-cell non-Hodgkin lymphoma that grows and spreads very quickly. It may affect the jaw, bones of the face, bowel, kidneys, ovaries, or other organs. There are three main types of Burkitt lymphoma (endemic, sporadic, and immunodeficiency related). Endemic Burkitt lymphoma commonly occurs in Africa and is linked to the Epstein-Barr virus, and sporadic Burkitt lymphoma occurs throughout the world. Immunodeficiency-related Burkitt lymphoma is most often seen in patients who have AIDS. Burkitt lymphoma may spread to the brain and spinal cord and treatment to prevent its spread may be given. Burkitt lymphoma occurs most often in children and young adults (See the PDQ summary on Childhood Non-Hodgkin Lymphoma Treatment for more information.) Burkitt lymphoma is also called diffuse small noncleaved-cell lymphoma. - Lymphoblastic lymphoma. Lymphoblastic lymphoma may begin in T cells or B cells, but it usually begins in T cells. In this type of non-Hodgkin lymphoma, there are too many lymphoblasts (immature white blood cells) in the lymph nodes and the thymus gland. These lymphoblasts may spread to other places in the body, such as the bone marrow, brain, and spinal cord. Lymphoblastic lymphoma is most common in teenagers and young adults. It is a lot like acute lymphoblastic leukemia (lymphoblasts are mostly found in the bone marrow and blood). (See the PDQ summary on Adult Acute Lymphoblastic Leukemia Treatment for more information.) - Adult T-cell leukemia/lymphoma. Adult T-cell leukemia/lymphoma is caused by the human T-cell leukemia virus type 1 (HTLV-1). Signs include bone and skin lesions, high blood calcium levels, and lymph nodes, spleen, and liver that are larger than normal. - Mantle cell lymphoma. Mantle cell lymphoma is a type of B-cell non-Hodgkin lymphoma that usually occurs in middle-aged or older adults. It begins in the lymph nodes and spreads to the spleen, bone marrow, blood, and sometimes the esophagus, stomach, and intestines. Patients with mantle cell lymphoma have too much of a protein called cyclin-D1 or a certain gene change in the lymphoma cells. In some patients who do not have signs or symptoms of lymphoma delaying the start of treatment does not affect the prognosis. - Posttransplantation lymphoproliferative disorder. This disease occurs in patients who have had a heart, lung, liver, kidney, or pancreas transplant and need lifelong immunosuppressive therapy. Most posttransplant lymphoproliferative disorders affect the B cells and have Epstein-Barr virus in the cells. Lymphoproliferative disorders are often treated like cancer. - True histiocytic lymphoma. This is a rare, very aggressive type of lymphoma. It is not known whether it begins in B cells or T cells. It does not respond well to treatment with standard chemotherapy. - Primary effusion lymphoma. Primary effusion lymphoma begins in B cells that are found in an area where there is a large build-up of fluid, such as the areas between the lining of the lung and chest wall (pleural effusion), the sac around the heart and the heart (pericardial effusion), or in the abdominal cavity. There is usually no tumor that can be seen. This type of lymphoma often occurs in patients who have AIDS. - Plasmablastic lymphoma. Plasmablastic lymphoma is a type of large B-cell non-Hodgkin lymphoma that is very aggressive. It is most often seen in patients with HIV infection.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Diarrhea ?"}, {"role": "assistant", "content": "Diarrhea may be accompanied by cramping, abdominal pain, nausea, an urgent need to use the bathroom, or loss of bowel control. Some infections that cause diarrhea can also cause a fever and chills or bloody stools.\n \nDehydration\n \nDiarrhea can cause dehydration. Loss of electrolytes through dehydration affects the amount of water in the body, muscle activity, and other important functions.\n \nDehydration is particularly dangerous in children, older adults, and people with weakened immune systems. Dehydration must be treated promptly to avoid serious health problems, such as organ damage, shock, or comaa sleeplike state in which a person is not conscious.\n \nSigns of dehydration in adults include\n \n- thirst - less frequent urination than usual - dark-colored urine - dry skin - fatigue - dizziness - light-headedness\n \nSigns of dehydration in infants and young children include\n \n- dry mouth and tongue - no tears when crying - no wet diapers for 3 hours or more - sunken eyes, cheeks, or soft spot in the skull - high fever - listlessness or irritability\n \nAlso, when people are dehydrated, their skin does not flatten back to normal right away after being gently pinched and released.\n \nAnyone with signs of dehydration should see a health care provider immediately. Severe dehydration may require hospitalization.\n \nAlthough drinking plenty of water is important in preventing dehydration, water does not contain electrolytes. Adults can prevent dehydration by also drinking liquids that contain electrolytes, such as fruit juices, sports drinks, caffeine-free soft drinks, and broths. Children with diarrhea should be given oral rehydration solutions such as Pedialyte, Naturalyte, Infalyte, and CeraLyte to prevent dehydration.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is WAGR syndrome inherited ?"}, {"role": "assistant", "content": "Most cases of WAGR syndrome are not inherited. They result from a chromosomal deletion that occurs as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. Affected people typically have no history of the disorder in their family. Some affected individuals inherit a chromosome 11 with a deleted segment from an unaffected parent. In these cases, the parent carries a chromosomal rearrangement called a balanced translocation, in which no genetic material is gained or lost. Balanced translocations usually do not cause any health problems; however, they can become unbalanced as they are passed to the next generation. Children who inherit an unbalanced translocation can have a chromosomal rearrangement with extra or missing genetic material. Individuals with WAGR syndrome who inherit an unbalanced translocation are missing genetic material from the short arm of chromosome 11, which results in an increased risk of Wilms tumor, aniridia, genitourinary anomalies, and intellectual disability.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) abetalipoproteinemia ?"}, {"role": "assistant", "content": "Abetalipoproteinemia is an inherited disorder that affects the absorption of dietary fats, cholesterol, and fat-soluble vitamins. People affected by this disorder are not able to make certain lipoproteins, which are particles that carry fats and fat-like substances (such as cholesterol) in the blood. Specifically, people with abetalipoproteinemia are missing a group of lipoproteins called beta-lipoproteins. An inability to make beta-lipoproteins causes severely reduced absorption (malabsorption) of dietary fats and fat-soluble vitamins (vitamins A, D, E, and K) from the digestive tract into the bloodstream. Sufficient levels of fats, cholesterol, and vitamins are necessary for normal growth, development, and maintenance of the body's cells and tissues, particularly nerve cells and tissues in the eye. The signs and symptoms of abetalipoproteinemia appear in the first few months of life. They can include failure to gain weight and grow at the expected rate (failure to thrive); diarrhea; abnormal star-shaped red blood cells (acanthocytosis); and fatty, foul-smelling stools (steatorrhea). Other features of this disorder may develop later in childhood and often impair the function of the nervous system. Disturbances in nerve function may cause affected people to eventually develop poor muscle coordination and difficulty with balance and movement (ataxia). Individuals with this condition may also develop an eye disorder called retinitis pigmentosa, in which progressive degeneration of the light-sensitive layer (retina) at the back of the eye can cause vision loss. Adults in their thirties or forties may have increasing difficulty with balance and walking. Many of the signs and symptoms of abetalipoproteinemia result from a severe vitamin deficiency, especially a deficiency of vitamin E.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Hernia ?"}, {"role": "assistant", "content": "A hernia happens when part of an internal organ or tissue bulges through a weak area of muscle. Most hernias are in the abdomen. There are several types of hernias, including - Inguinal, in the groin. This is the the most common type. - Umbilical, around the belly button - Incisional, through a scar - Hiatal, a small opening in the diaphragm that allows the upper part of the stomach to move up into the chest. - Congenital diaphragmatic, a birth defect that needs surgery Hernias are common. They can affect men, women, and children. A combination of muscle weakness and straining, such as with heavy lifting, might contribute. Some people are born with weak abdominal muscles and may be more likely to get a hernia. Treatment is usually surgery to repair the opening in the muscle wall. Untreated hernias can cause pain and health problems.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Hashimoto thyroiditis inherited ?"}, {"role": "assistant", "content": "The inheritance pattern of Hashimoto thyroiditis is unclear because many genetic and environmental factors appear to be involved. However, the condition can cluster in families, and having a close relative with Hashimoto thyroiditis or another autoimmune disorder likely increases a person's risk of developing the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Congenital myasthenic syndrome associated with acetylcholine receptor deficiency ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Congenital myasthenic syndrome associated with acetylcholine receptor deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital myasthenic syndrome associated with acetylcholine receptor deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the immune system - Autosomal recessive inheritance - Decreased fetal movement - Decreased muscle mass - Decreased size of nerve terminals - Dental malocclusion - Dysarthria - Dysphagia - Easy fatigability - EMG: decremental response of compound muscle action potential to repetitive nerve stimulation - Facial palsy - Feeding difficulties - Gowers sign - High palate - Infantile onset - Long face - Mandibular prognathia - Motor delay - Muscle cramps - Muscular hypotonia - Nonprogressive - Ophthalmoparesis - Ptosis - Respiratory insufficiency due to muscle weakness - Skeletal muscle atrophy - Strabismus - Type 2 muscle fiber atrophy - Variable expressivity - Weak cry - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Swallowing Disorders ?"}, {"role": "assistant", "content": "If you have a swallowing disorder, you may have difficulty or pain when swallowing. Some people cannot swallow at all. Others may have trouble swallowing liquids, foods, or saliva. This makes it hard to eat. Often, it can be difficult to take in enough calories and fluids to nourish your body. Anyone can have a swallowing disorder, but it is more likely in the elderly. It often happens because of other conditions, including - Nervous system disorders, such as Parkinson's disease and cerebral palsy - Problems with your esophagus, including GERD (gastroesophageal reflux disease) - Stroke - Head or spinal cord injury - Cancer of the head, neck, or esophagus Medicines can help some people, while others may need surgery. Swallowing treatment with a speech-language pathologist can help. You may find it helpful to change your diet or hold your head or neck in a certain way when you eat. In very serious cases, people may need feeding tubes. NIH: National Institute on Deafness and Other Communication Disorders", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Who is at risk for Heart Attack? ?"}, {"role": "assistant", "content": "You can lower your risk of having a heart attack, even if you have already had a heart attack or have been told that your chances of having a heart attack are high. To prevent a heart attack, you will need to make lifestyle changes. You may also need to get treatment for conditions that raise your risk. Lifestyle changes you can make to lower your risk for heart attack include the following: - If you smoke, quit. - Maintain a healthy weight. Lose weight gradually if you are overweight or obese. If you smoke, quit. Maintain a healthy weight. Lose weight gradually if you are overweight or obese. - Follow a heart healthy diet -- such as one low in salt, saturated fat and trans fat, and calories -- to prevent or reduce high blood pressure and high blood cholesterol and maintain a healthy weight. - Be as physically active as you can. Follow a heart healthy diet -- such as one low in salt, saturated fat and trans fat, and calories -- to prevent or reduce high blood pressure and high blood cholesterol and maintain a healthy weight. Be as physically active as you can. Get treatment for related conditions that might make having a heart attack more likely. - If you have high blood cholesterol, follow your doctor's advice about lowering it. Take medications to lower your cholesterol as directed. - If you have high blood pressure, follow your doctor's advice about keeping it under control. Take blood pressure medications as directed. - If you have diabetes, sometimes called high blood sugar, follow your doctor's advice about keeping blood sugar levels under control. Take your medicines as directed. If you have high blood cholesterol, follow your doctor's advice about lowering it. Take medications to lower your cholesterol as directed. If you have high blood pressure, follow your doctor's advice about keeping it under control. Take blood pressure medications as directed. If you have diabetes, sometimes called high blood sugar, follow your doctor's advice about keeping blood sugar levels under control. Take your medicines as directed.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Hepatoblastoma ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Hepatoblastoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Hepatoblastoma. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Hepatocellular carcinoma - Micronodular cirrhosis - Somatic mutation - Subacute progressive viral hepatitis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Hydatidiform mole ?"}, {"role": "assistant", "content": "Molar pregnancy is a condition in which the placenta does not develop properly. The symptoms of molar pregnancy, which may include vaginal bleeding, severe morning sickness, stomach cramps, and high blood pressure, typically begin around the 10th week of pregnancy. Because the embryo does not form or is malformed in molar pregnancies, and because there is a small risk of developing a cancer called choriocarcinoma, a D&C is usually performed.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Do you have information about Alcohol"}, {"role": "assistant", "content": "Summary : If you are like many Americans, you drink alcohol at least occasionally. For many people, moderate drinking is probably safe. It may even have health benefits, including reducing your risk of certain heart problems. For most women and for most people over 65, moderate drinking is no more than three drinks a day or seven drinks per week. For men under 65, it is no more than four drinks a day or 14 drinks per week. Some people should not drink at all, including alcoholics, children, pregnant women, people taking certain medicines, and people with certain medical conditions. If you have questions about whether it is safe for you to drink, speak with your health care provider. Anything more than moderate drinking can be risky. Heavy drinking can lead to alcoholism and alcohol abuse, as well as injuries, liver disease, heart disease, cancer, and other health problems. It can also cause problems at home, at work, and with friends. NIH: National Institute on Alcohol Abuse and Alcoholism", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Am I at Risk for Type 2 Diabetes? Taking Steps to Lower Your Risk of Getting Diabetes ?"}, {"role": "assistant", "content": "The signs and symptoms of type 2 diabetes can be so mild that you might not even notice them. Nearly 7 million people in the United States have type 2 diabetes and dont know they have the disease. Many have no signs or symptoms. Some people have symptoms but do not suspect diabetes.\n \nSymptoms include\n \n- increased thirst - increased hunger - fatigue - increased urination, especially at night - unexplained weight loss - blurred vision - numbness or tingling in the feet or hands - sores that do not heal\n \nMany people do not find out they have the disease until they have diabetes problems, such as blurred vision or heart trouble. If you find out early that you have diabetes, you can get treatment to prevent damage to your body.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Macular dystrophy, atypical vitelliform ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Macular dystrophy, atypical vitelliform? The Human Phenotype Ontology provides the following list of signs and symptoms for Macular dystrophy, atypical vitelliform. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Reduced visual acuity 5% Visual field defect 5% Visual impairment 5% Autosomal dominant inheritance - Late onset - Macular dystrophy - Vitelliform-like macular lesions - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by epidermal nevus ?"}, {"role": "assistant", "content": "Epidermal nevi affect approximately 1 in 1,000 people.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Do you have information about Mammography"}, {"role": "assistant", "content": "Summary : A mammogram is an x-ray picture of the breast. It can be used to check for breast cancer in women who have no signs or symptoms of the disease. It can also be used if you have a lump or other sign of breast cancer. Screening mammography is the type of mammogram that checks you when you have no symptoms. It can help reduce the number of deaths from breast cancer among women ages 40 to 70. But it can also have drawbacks. Mammograms can sometimes find something that looks abnormal but isn't cancer. This leads to further testing and can cause you anxiety. Sometimes mammograms can miss cancer when it is there. It also exposes you to radiation. You should talk to your doctor about the benefits and drawbacks of mammograms. Together, you can decide when to start and how often to have a mammogram. Mammograms are also recommended for younger women who have symptoms of breast cancer or who have a high risk of the disease. When you have a mammogram, you stand in front of an x-ray machine. The person who takes the x-rays places your breast between two plastic plates. The plates press your breast and make it flat. This may be uncomfortable, but it helps get a clear picture. You should get a written report of your mammogram results within 30 days. NIH: National Cancer Institute", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) cranioectodermal dysplasia ?"}, {"role": "assistant", "content": "Cranioectodermal dysplasia is a disorder that affects many parts of the body. The most common features involve bone abnormalities and abnormal development of certain tissues known as ectodermal tissues, which include the skin, hair, nails, and teeth. The signs and symptoms of this condition vary among affected individuals, even among members of the same family. Distinctive abnormalities of the skull and face are common in people with cranioectodermal dysplasia. Most affected individuals have a prominent forehead (frontal bossing) and an elongated head (dolichocephaly) due to abnormal fusion of certain skull bones (sagittal craniosynostosis). A variety of facial abnormalities can occur in people with this condition; these include low-set ears that may also be rotated backward, an increased distance between the inner corners of the eyes (telecanthus), and outside corners of the eyes that point upward or downward (upslanting or downslanting palpebral fissures) among others. Development of bones in the rest of the skeleton is also affected in this condition. Abnormalities in the long bones of the arms and legs (metaphyseal dysplasia) lead to short limbs and short stature. In addition, affected individuals often have short fingers (brachydactyly). Some people with this condition have short rib bones and a narrow rib cage, which can cause breathing problems, especially in affected newborns. Abnormal development of ectodermal tissues in people with cranioectodermal dysplasia can lead to sparse hair, small or missing teeth, short fingernails and toenails, and loose skin. Cranioectodermal dysplasia can affect additional organs and tissues in the body. A kidney disorder known as nephronophthisis occurs in many people with this condition, and it can lead to a life-threatening failure of kidney function known as end-stage renal disease. Abnormalities of the liver, heart, or eyes also occur in people with cranioectodermal dysplasia.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to xeroderma pigmentosum ?"}, {"role": "assistant", "content": "Xeroderma pigmentosum is caused by mutations in genes that are involved in repairing damaged DNA. DNA can be damaged by UV rays from the sun and by toxic chemicals such as those found in cigarette smoke. Normal cells are usually able to fix DNA damage before it causes problems. However, in people with xeroderma pigmentosum, DNA damage is not repaired normally. As more abnormalities form in DNA, cells malfunction and eventually become cancerous or die. Many of the genes related to xeroderma pigmentosum are part of a DNA-repair process known as nucleotide excision repair (NER). The proteins produced from these genes play a variety of roles in this process. They recognize DNA damage, unwind regions of DNA where the damage has occurred, snip out (excise) the abnormal sections, and replace the damaged areas with the correct DNA. Inherited abnormalities in the NER-related genes prevent cells from carrying out one or more of these steps. The POLH gene also plays a role in protecting cells from UV-induced DNA damage, although it is not involved in NER; mutations in this gene cause the variant type of xeroderma pigmentosum. The major features of xeroderma pigmentosum result from a buildup of unrepaired DNA damage. When UV rays damage genes that control cell growth and division, cells can either die or grow too fast and in an uncontrolled way. Unregulated cell growth can lead to the development of cancerous tumors. Neurological abnormalities are also thought to result from an accumulation of DNA damage, although the brain is not exposed to UV rays. Researchers suspect that other factors damage DNA in nerve cells. It is unclear why some people with xeroderma pigmentosum develop neurological abnormalities and others do not. Inherited mutations in at least eight genes have been found to cause xeroderma pigmentosum. More than half of all cases in the United States result from mutations in the XPC, ERCC2, or POLH genes. Mutations in the other genes generally account for a smaller percentage of cases.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Wilson disease ?"}, {"role": "assistant", "content": "What causes Wilson disease? Wilson disease is caused by changes (mutations) in the ATP7B gene. This gene encodes a protein that plays an important role in the transport of copper from the liver to the rest of the body. It also helps remove excess copper from the body. Mutations in the ATP7B gene prevent this protein from working properly, which can lead to an accumulation of copper in the body. Because high levels of copper are toxic, this buildup can damage tissues and organs and cause the many signs and symptoms of Wilson disease.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Achalasia ?"}, {"role": "assistant", "content": "What causes achalasia? The lower esophageal sphincter, the ring-shaped muscle at the bottom of the esophagus, normally relaxes during swallowing. In people with achalasia, this muscle ring does not relax as well. The reason for this problem is damage to the nerves of the esophagus. In some people, this problem appears to be inherited. There is additionally a suspected autoimmune component involved in the development of achalasia as individuals with achalasia are more likely to have a concomitant autoimmune disease than the general population.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Ovarian carcinosarcoma ?"}, {"role": "assistant", "content": "How might ovarian carcinosarcoma be treated? Because ovarian carcinosarcoma is rare, there are no established treatment guidelines. Treatment decisions are based on the unique features of each individual's diagnosis. The National Comprehensive Cancer Network (NCCN), a group of physicians and researchers who strive to improve cancer care, recommends that women with ovarian carcinosarcoma be treated similarly to women with ovarian carcinoma (also called epithelial ovarian cancer), which is the most common type of ovarian cancer. Currently, treatment for ovarian carcinosarcoma usually begins with surgery to remove as much of the cancer as possible. Chemotherapy may be used to destroy any cancer cells that could be in the body after surgery. Medications that contain platinum (such as the drug cisplatin) seem to be the most effective chemotherapies for ovarian carcinosarcoma. Recent evidence suggests that another medication called ifosfamide may increase the effectiveness of treatment when used in combination with platinum-based medications.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Wiedemann-Steiner syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Wiedemann-Steiner syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Wiedemann-Steiner syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Constipation 5% Delayed skeletal maturation 5% Long eyelashes 5% Muscular hypotonia 5% Sacral dimple 5% Seizures 5% Tapered finger 5% Aggressive behavior - Blepharophimosis - Broad-based gait - Clinodactyly of the 5th finger - Delayed speech and language development - Epicanthus - Failure to thrive - Flat face - High palate - Hypertelorism - Intellectual disability - Long philtrum - Low-set ears - Short middle phalanx of finger - Short stature - Short toe - Strabismus - Synophrys - Thick eyebrow - Wide nose - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "what research (or clinical trials) is being done for Shingles ?"}, {"role": "assistant", "content": "The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge of the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. The NINDS supports research on viral proteins and virus defense mechanisms in neurons to understand why the varicella-zoster virus establishes latency uniquely in neurons and not in other cell types. Other studies focus on how VZV travels along sensory nerve fibers, or axons, and its role in latency and viral reactivation. Scientists also hope to identify molecular mechanisms that regulate the expression of latent viral genes, which may lead to targeted therapy to prevent reactivation. Other studies hope to better understand cellular changes that lead to persistent pain.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by Bloom syndrome ?"}, {"role": "assistant", "content": "Bloom syndrome is a rare disorder. Only a few hundred affected individuals have been described in the medical literature, about one-third of whom are of Central and Eastern European (Ashkenazi) Jewish background.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Atrial Fibrillation ?"}, {"role": "assistant", "content": "Atrial fibrillation (A-tre-al fi-bri-LA-shun), or AF, is the most common type of arrhythmia (ah-RITH-me-ah). An arrhythmia is a problem with the rate or rhythm of the heartbeat. During an arrhythmia, the heart can beat too fast, too slow, or with an irregular rhythm.\n \nAF occurs if rapid, disorganized electrical signals cause the heart's two upper chamberscalled the atria (AY-tree-uh)to fibrillate. The term \"fibrillate\" means to contract very fast and irregularly.\n \nIn AF, blood pools in the atria. It isn't pumped completely into the heart's two lower chambers, called the ventricles (VEN-trih-kuls). As a result, the heart's upper and lower chambers don't work together as they should.\n \nPeople who have AF may not feel symptoms. However, even when AF isn't noticed, it can increase the risk of stroke. In some people, AF can cause chest pain or heart failure, especially if the heart rhythm is very rapid.\n \nAF may happen rarely or every now and then, or it may become an ongoing or long-term heart problem that lasts for years.\n \nUnderstanding the Heart's Electrical System\n \nTo understand AF, it helps to understand the heart's internal electrical system. The heart's electrical system controls the rate and rhythm of the heartbeat.\n \nWith each heartbeat, an electrical signal spreads from the top of the heart to the bottom. As the signal travels, it causes the heart to contract and pump blood.\n \nEach electrical signal begins in a group of cells called the sinus node or sinoatrial (SA) node. The SA node is located in the right atrium. In a healthy adult heart at rest, the SA node sends an electrical signal to begin a new heartbeat 60 to 100 times a minute. (This rate may be slower in very fit athletes.)\n \nFrom the SA node, the electrical signal travels through the right and left atria. It causes the atria to contract and pump blood into the ventricles.\n \nThe electrical signal then moves down to a group of cells called the atrioventricular (AV) node, located between the atria and the ventricles. Here, the signal slows down slightly, allowing the ventricles time to finish filling with blood.\n \nThe electrical signal then leaves the AV node and travels to the ventricles. It causes the ventricles to contract and pump blood to the lungs and the rest of the body. The ventricles then relax, and the heartbeat process starts all over again in the SA node.\n \nFor more information about the heart's electrical system and detailed animations, go to the Diseases and Conditions Index How the Heart Works article.\n \nUnderstanding the Electrical Problem in Atrial Fibrillation\n \nIn AF, the heart's electrical signals don't begin in the SA node. Instead, they begin in another part of the atria or in the nearby pulmonary veins. The signals don't travel normally. They may spread throughout the atria in a rapid, disorganized way. This can cause the atria to fibrillate.\n \nThe faulty signals flood the AV node with electrical impulses. As a result, the ventricles also begin to beat very fast. However, the AV node can't send the signals to the ventricles as fast as they arrive. So, even though the ventricles are beating faster than normal, they aren't beating as fast as the atria.\n \nThus, the atria and ventricles no longer beat in a coordinated way. This creates a fast and irregular heart rhythm. In AF, the ventricles may beat 100 to 175 times a minute, in contrast to the normal rate of 60 to 100 beats a minute.\n \nIf this happens, blood isn't pumped into the ventricles as well as it should be. Also, the amount of blood pumped out of the ventricles to the body is based on the random atrial beats.\n \nThe body may get rapid, small amounts of blood and occasional larger amounts of blood. The amount will depend on how much blood has flowed from the atria to the ventricles with each beat.\n \nMost of the symptoms of AF are related to how fast the heart is beating. If medicines or age slow the heart rate, the symptoms are minimized.\n \nAF may be brief, with symptoms that come and go and end on their own. Or, the condition may be ongoing and require treatment. Sometimes AF is permanent, and medicines or other treatments can't restore a normal heart rhythm.\n \nThe animation below shows atrial fibrillation. Click the \"start\" button to play the animation. Written and spoken explanations are provided with each frame. Use the buttons in the lower right corner to pause, restart, or replay the animation, or use the scroll bar below the buttons to move through the frames.\n \n\n \n\n \nThe animation shows how the heart's electrical signal can begin somewhere other than the sinoatrial node. This causes the atria to beat very fast and irregularly.\n \nOutlook\n \nPeople who have AF can live normal, active lives. For some people, treatment can restore normal heart rhythms.\n \nFor people who have permanent AF, treatment can help control symptoms and prevent complications. Treatment may include medicines, medical procedures, and lifestyle changes.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Chronic Fatigue Syndrome (CFS) ?"}, {"role": "assistant", "content": "Diagnostic Challenges\n \nFor doctors, diagnosing chronic fatigue syndrome (CFS) can be complicated by a number of factors:\n \n - There's no lab test or biomarker for CFS.\n - Fatigue and other symptoms of CFS are common to many illnesses.\n - For some CFS patients, it may not be obvious to doctors that they are ill.\n - The illness has a pattern of remission and relapse.\n - Symptoms vary from person to person in type, number, and severity.\n \n \nThese factors have contributed to a low diagnosis rate. Of the one to four million Americans who have CFS, less than 20% have been diagnosed.\n Exams and Screening Tests for CFS\n \nBecause there is no blood test, brain scan, or other lab test to diagnose CFS, the doctor should first rule out other possible causes.\n \nIf a patient has had 6 or more consecutive months of severe fatigue that is reported to be unrelieved by sufficient bed rest and that is accompanied by nonspecific symptoms, including flu-like symptoms, generalized pain, and memory problems, the doctor should consider the possibility that the patient may have CFS. Further exams and tests are needed before a diagnosis can be made:\n \n - A detailed medical history will be needed and should include a review of medications that could be causing the fatigue and symptoms\n - A thorough physical and mental status examination will also be needed\n - A battery of laboratory screening tests will be needed to help identify or rule out other possible causes of the symptoms that could be treated\n - The doctor may also order additional tests to follow up on results of the initial screening tests\n \n \nA CFS diagnosis requires that the patient has been fatigued for 6 months or more and has 4 of the 8 symptoms for CFS for 6 months or more. If, however, the patient has been fatigued for 6 months or more but does not have four of the eight symptoms, the diagnosis may be idiopathic fatigue.\n \nThe complete process for diagnosing CFS can be found here.\n \nAdditional information for healthcare professionals on use of tests can be found here.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Urinary Incontinence ?"}, {"role": "assistant", "content": "The first step in treating urinary incontinence is to see a health care provider. He or she will give you a physical exam and take your medical history. The provider will ask about your symptoms and the medicines you use. He or she will want to know if you have been sick recently or have had surgery. Your provider also may do a number of tests. These might include - urine tests - tests that measure how well you empty your bladder, usually by ultrasound. urine tests tests that measure how well you empty your bladder, usually by ultrasound. In addition, your health care provider may ask you to keep a daily diary of when you urinate and when you leak urine. Your family provider may also send you to a urologist or urogynecologist, a doctor who specializes in urinary tract problems. Learn more about how urinary incontinence is diagnosed in men and women.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Congenital rubella ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Congenital rubella? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital rubella. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cataract 90% Intrauterine growth retardation 90% Neurological speech impairment 90% Sensorineural hearing impairment 90% Abnormality of retinal pigmentation 50% Abnormality of the fontanelles or cranial sutures 50% Abnormality of the pulmonary artery 50% Anemia 50% Aplasia/Hypoplasia of the iris 50% Atria septal defect 50% Cognitive impairment 50% Glaucoma 50% Hepatomegaly 50% Hypertonia 50% Microcephaly 50% Muscular hypotonia 50% Nystagmus 50% Patent ductus arteriosus 50% Short stature 50% Skin rash 50% Splenomegaly 50% Strabismus 50% Thrombocytopenia 50% Ventricular septal defect 50% Visual impairment 50% Abnormality of the metaphyses 7.5% Opacification of the corneal stroma 7.5% Seizures 7.5% Type I diabetes mellitus 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Freeman-Sheldon syndrome ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of Freeman-Sheldon syndrome: - Genetic Testing Registry: Freeman-Sheldon syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Proximal symphalangism ?"}, {"role": "assistant", "content": "Is genetic testing available for Cushing's symphalangism? GeneTests lists the names of laboratories that are performing genetic testing for Cushing's symphalangism. To view the contact information for the clinical laboratories conducting testing, click here. Please note: Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional. Below, we provide a list of online resources that can assist you in locating a genetics professional near you.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Budd-Chiari syndrome ?"}, {"role": "assistant", "content": "Budd-Chiari syndrome is a rare disorder characterized by narrowing and obstruction of the veins of the liver. This narrowing or obstruction slows or prevents blood from flowing out of the liver and back to the heart which can lead to liver damage. While some people experience no symptoms, many experience fatigue, abdominal pain, nausea, and jaundice. Other associated findings include an accumulation of fluid in the abdomen (ascites), an enlarged spleen and/or liver, and severe bleeding in the esophagus. The severity of the disorder varies from case to case, depending on the site and number of affected veins. Drugs may be used to dissolve or decrease the size of the obstruction (if it is a clot). In some cases surgery is performed. In most cases, the cause of Budd-Chiari syndrome is unknown.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Menetrier disease ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Menetrier disease? Although some patients with Mntrier disease may not experience symptoms, most patients have stomach pain, diarrhea, weight loss, peripheral edema, and sometimes bleeding. The Human Phenotype Ontology provides the following list of signs and symptoms for Menetrier disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abdominal pain 90% Edema of the lower limbs 90% Nausea and vomiting 90% Anorexia 50% Gastrointestinal hemorrhage 50% Hypoproteinemia 50% Iron deficiency anemia 50% Weight loss 50% Sepsis 7.5% Giant hypertrophic gastritis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is collagen VI-related myopathy inherited ?"}, {"role": "assistant", "content": "Collagen VI-related myopathy can be inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Bethlem myopathy is typically inherited in an autosomal dominant manner, as are some cases of the intermediate form and a few rare instances of Ullrich congenital muscular dystrophy. Most cases result from new mutations in the gene and occur in people with no history of the disorder in their family. In other cases, an affected person inherits the mutation from one affected parent. Collagen VI-related myopathy can be inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Ullrich congenital muscular dystrophy is typically inherited in an autosomal recessive manner, as are some cases of the intermediate form and a few rare instances of Bethlem myopathy. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Wolfram syndrome inherited ?"}, {"role": "assistant", "content": "Is Wolfram syndrome inherited? Wolfram syndrome is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Gum (Periodontal) Disease ?"}, {"role": "assistant", "content": "In some studies, researchers have observed that people with periodontal disease (when compared to people without periodontal disease) were more likely to develop heart disease or have difficulty controlling their blood sugar. But so far, it has not been determined whether periodontal disease is the cause of these conditions. There may be other reasons people with periodontal disease sometimes develop additional health problems. For example, something else may be causing both the gum disease and the other condition, or it could be a coincidence that gum disease and other health problems are present together. More research is needed to clarify whether gum disease actually causes health problems beyond the mouth, and whether treating gum disease can keep other health conditions from developing. In the meantime, it's a fact that controlling periodontal disease can save your teeth -- a very good reason to take care of your teeth and gums.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for maternally inherited diabetes and deafness ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of MIDD: - Genetic Testing Registry: Diabetes-deafness syndrome maternally transmitted These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Mastocytic enterocolitis ?"}, {"role": "assistant", "content": "Mastocytic enterocolitis is a term describing the condition of chronic, intractable diarrhea in people with normal colon or duodenum biopsy results, but with an increased number of mast cells in the colonic mucosa (the innermost layer of the colon). The increase in mast cells is not associated with systemic or cutaneous mastocytosis. It is unclear whether the accumulation of mast cells is a response to, or cause of, the mucosal inflammation that causes the symptoms of the condition. Most individuals with this condition respond well to drugs affecting mast cell function.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to incontinentia pigmenti ?"}, {"role": "assistant", "content": "Mutations in the IKBKG gene cause incontinentia pigmenti. The IKBKG gene provides instructions for making a protein that helps regulate nuclear factor-kappa-B. Nuclear factor-kappa-B is a group of related proteins that helps protect cells from self-destructing (undergoing apoptosis) in response to certain signals. About 80 percent of affected individuals have a mutation that deletes some genetic material from the IKBKG gene. This deletion probably leads to the production of an abnormally small, nonfunctional version of the IKBKG protein. Other people with incontinentia pigmenti have mutations that prevent the production of any IKBKG protein. Without this protein, nuclear factor-kappa-B is not regulated properly, and cells are more sensitive to signals that trigger them to self-destruct. Researchers believe that this abnormal cell death leads to the signs and symptoms of incontinentia pigmenti.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Proud syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Proud syndrome? The most common signs and symptoms of Proud syndrome are: Agenesis of the corpus callosum Severe intellectual disability Seizures Stiff and/or rigid muscles (spasticity) Other features may include microcephaly (unusually small head), limb contractures, scoliosis, characteristic facial features, kidney malformations, and genital abnormalities (i.e. cryptorchidism, hypospadias). Proud syndrome usually occurs in males; when it occurs in females, the signs and symptoms are often less severe. The Human Phenotype Ontology provides the following list of signs and symptoms for Proud syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Microcephaly 90% Seizures 90% Short stature 90% Abnormality of the hip bone 50% Abnormality of the pinna 50% Coarse facial features 50% Hypertrichosis 50% Nystagmus 50% Scoliosis 50% Strabismus 50% Cerebral cortical atrophy 7.5% Displacement of the external urethral meatus 7.5% Hemiplegia/hemiparesis 7.5% Hernia of the abdominal wall 7.5% Renal hypoplasia/aplasia 7.5% Broad alveolar ridges - Cryptorchidism - High palate - Hirsutism - Hyperconvex nail - Hypospadias - Intellectual disability, progressive - Intellectual disability, severe - Large eyes - Limb joint contracture - Low anterior hairline - Neonatal hypotonia - Optic atrophy - Overlapping toe - Prominent supraorbital ridges - Protruding ear - Renal dysplasia - Spastic tetraplegia - Synophrys - Tapered finger - Tetraplegia - Visual impairment - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is glycogen storage disease type IX inherited ?"}, {"role": "assistant", "content": "GSD IX can have different inheritance patterns depending on the genetic cause of the condition. When caused by mutations in the PHKA1 or PHKA2 gene, GSD IX is inherited in an X-linked recessive pattern. These genes are located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. However, some women with one altered copy of the PHKA2 gene have signs and symptoms of GSD IX, such as mild hepatomegaly or short stature in childhood. These features are usually mild but can be more severe in rare cases. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. When the condition is caused by mutations in the PHKB or PHKG2 gene, it is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Who is at risk for Laryngeal Cancer? ?"}, {"role": "assistant", "content": "Use of tobacco products and drinking too much alcohol can affect the risk of laryngeal cancer.Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. Talk with your doctor if you think you may be at risk.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Macrothrombocytopenia progressive deafness ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Macrothrombocytopenia progressive deafness? The Human Phenotype Ontology provides the following list of signs and symptoms for Macrothrombocytopenia progressive deafness. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal bleeding - Abnormality of the eye - Abnormality of the urinary system - Autosomal dominant inheritance - Bruising susceptibility - Giant platelets - Progressive sensorineural hearing impairment - Prolonged bleeding time - Thrombocytopenia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to Baraitser-Winter syndrome ?"}, {"role": "assistant", "content": "Baraitser-Winter syndrome can result from mutations in either the ACTB or ACTG1 gene. These genes provide instructions for making proteins called beta ()-actin and gamma ()-actin, respectively. These proteins are active (expressed) in cells throughout the body. They are organized into a network of fibers called the actin cytoskeleton, which makes up the cell's structural framework. The actin cytoskeleton has several critical functions, including determining cell shape and allowing cells to move. Mutations in the ACTB or ACTG1 gene alter the function of -actin or -actin. The malfunctioning actin causes changes in the actin cytoskeleton that modify the structure and organization of cells and affect their ability to move. Because these two actin proteins are present in cells throughout the body and are involved in many cell activities, problems with their function likely impact many aspects of development, including neuronal migration. These changes underlie the variety of signs and symptoms associated with Baraitser-Winter syndrome.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to glycine encephalopathy ?"}, {"role": "assistant", "content": "Mutations in the AMT and GLDC genes cause glycine encephalopathy. About 80 percent of cases of glycine encephalopathy result from mutations in the GLDC gene, while AMT mutations cause 10 percent to 15 percent of all cases. In a small percentage of affected individuals, the cause of this condition is unknown. The AMT and GLDC genes provide instructions for making proteins that work together as part of a larger enzyme complex. This complex, known as glycine cleavage enzyme, is responsible for breaking down glycine into smaller pieces. Mutations in either the AMT or GLDC gene prevent the complex from breaking down glycine properly. When glycine cleavage enzyme is defective, excess glycine can build up to toxic levels in the body's organs and tissues. Damage caused by harmful amounts of this molecule in the brain and spinal cord is responsible for the intellectual disability, seizures, and breathing difficulties characteristic of glycine encephalopathy.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Gordon syndrome ?"}, {"role": "assistant", "content": "Gordon Syndrome is a rare, inherited type of distal arthrogryposis typically characterized by a combination of camptodactyly (a permanent fixation of several fingers in a flexed position), clubfoot (abnormal bending inward of the foot), and less frequently, cleft palate. Intelligence is usually normal. In some cases, additional abnormalities such as scoliosis or undescended testicles in males may be present. The range and severity of symptoms may vary from case to case. Gordon syndrome is thought to be inherited in an autosomal dominant or X-linked dominant manner. The exact cause remains unknown.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Who is at risk for Fecal Incontinence? ?"}, {"role": "assistant", "content": "Nearly 18 million U.S. adultsabout one in 12have fecal incontinence.1 People of any age can have a bowel control problem, though fecal incontinence is more common in older adults. Fecal incontinence is slightly more common among women. Having any of the following can increase the risk:\n \n- diarrhea, which is passing loose, watery stools three or more times a day - urgency, or the sensation of having very little time to get to the toilet for a bowel movement - a disease or injury that damages the nervous system - poor overall health from multiple chronic, or long lasting, illnesses - a difficult childbirth with injuries to the pelvic floorthe muscles, ligaments, and tissues that support the uterus, vagina, bladder, and rectum", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to Friedreich ataxia ?"}, {"role": "assistant", "content": "Mutations in the FXN gene cause Friedreich ataxia. This gene provides instructions for making a protein called frataxin. Although its role is not fully understood, frataxin appears to be important for the normal function of mitochondria, the energy-producing centers within cells. One region of the FXN gene contains a segment of DNA known as a GAA trinucleotide repeat. This segment is made up of a series of three DNA building blocks (one guanine and two adenines) that appear multiple times in a row. Normally, this segment is repeated 5 to 33 times within the FXN gene. In people with Friedreich ataxia, the GAA segment is repeated 66 to more than 1,000 times. The length of the GAA trinucleotide repeat appears to be related to the age at which the symptoms of Friedreich ataxia appear. People with GAA segments repeated fewer than 300 times tend to have a later appearance of symptoms (after age 25) than those with larger GAA trinucleotide repeats. The abnormally long GAA trinucleotide repeat disrupts the production of frataxin, which severely reduces the amount of this protein in cells. Certain nerve and muscle cells cannot function properly with a shortage of frataxin, leading to the characteristic signs and symptoms of Friedreich ataxia.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by gyrate atrophy of the choroid and retina ?"}, {"role": "assistant", "content": "More than 150 individuals with gyrate atrophy have been identified; approximately one third are from Finland.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) junctional epidermolysis bullosa ?"}, {"role": "assistant", "content": "Junctional epidermolysis bullosa (JEB) is one of the major forms of epidermolysis bullosa, a group of genetic conditions that cause the skin to be very fragile and to blister easily. Blisters and skin erosions form in response to minor injury or friction, such as rubbing or scratching. Researchers classify junctional epidermolysis bullosa into two main types: Herlitz JEB and non-Herlitz JEB. Although the types differ in severity, their features overlap significantly, and they can be caused by mutations in the same genes. Herlitz JEB is the more severe form of the condition. From birth or early infancy, affected individuals have blistering over large regions of the body. Blistering also affects the mucous membranes, such as the moist lining of the mouth and digestive tract, which can make it difficult to eat and digest food. As a result, many affected children have chronic malnutrition and slow growth. The extensive blistering leads to scarring and the formation of red, bumpy patches called granulation tissue. Granulation tissue bleeds easily and profusely, making affected infants susceptible to serious infections and loss of necessary proteins, minerals, and fluids. Additionally, a buildup of granulation tissue in the airway can lead to a weak, hoarse cry and difficulty breathing. Other complications of Herlitz JEB can include fusion of the fingers and toes, abnormalities of the fingernails and toenails, joint deformities (contractures) that restrict movement, and hair loss (alopecia). Because the signs and symptoms of Herlitz JEB are so severe, infants with this condition usually do not survive beyond the first year of life. The milder form of junctional epidermolysis bullosa is called non-Herlitz JEB. The blistering associated with non-Herlitz JEB may be limited to the hands, feet, knees, and elbows, and it often improves after the newborn period. Other characteristic features of this condition include alopecia, malformed fingernails and toenails, and irregular tooth enamel. Most affected individuals do not have extensive scarring or granulation tissue formation, so breathing difficulties and other severe complications are rare. Non-Herlitz JEB is typically associated with a normal lifespan.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Do you have information about Blood"}, {"role": "assistant", "content": "Summary : Your blood is living tissue made up of liquid and solids. The liquid part, called plasma, is made of water, salts, and protein. Over half of your blood is plasma. The solid part of your blood contains red blood cells, white blood cells, and platelets. Red blood cells (RBC) deliver oxygen from your lungs to your tissues and organs. White blood cells (WBC) fight infection and are part of your body's defense system. Platelets help blood to clot when you have a cut or wound. Bone marrow, the spongy material inside your bones, makes new blood cells. Blood cells constantly die and your body makes new ones. Red blood cells live about 120 days, and platelets live about 6 days. Some white blood cells live less than a day, but others live much longer. Blood tests show whether the levels of substances in your blood are within a normal range. They help doctors check for certain diseases and conditions. They also help check the function of your organs and show how well treatments are working.Some of the most common blood tests are blood count tests, which measure the number, size, and shape of cells and platelets in the blood. Problems with your blood may include bleeding disorders, excessive clotting and platelet disorders. If you lose too much blood, you may need a transfusion.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Gilbert syndrome ?"}, {"role": "assistant", "content": "Is genetic testing available for Gilbert syndrome? The Genetic Testing Registry provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference at http://ghr.nlm.nih.gov/handbook/consult. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral. The following online resources can help you find a genetics professional in your community: The National Society for Genetic Counselors provides a searchable directory of US and international genetic counseling services. The American College of Medical Genetics has a searchable database of US genetics clinics. The University of Kansas Medical Center provides a list of US and international genetic centers, clinics, and departments. The American Society of Human Genetics maintains a database of its members, which includes individuals who live outside of the United States. Visit the link to obtain a list of the geneticists in your country, some of whom may be researchers that do not provide medical care.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Necrotizing fasciitis ?"}, {"role": "assistant", "content": "Necrotizing fasciitis is a serious infection of the skin, subcutaneous tissue (tissue just beneath the skin) and fascia. The infection can arise suddenly and spread quickly. Necrotizing fasciitis can be caused by several different types of bacteria. Early signs include flu-like symptoms and redness and pain around the infection site. If the infection is not treated promptly, it can lead to multiple organ failure and death. As a result, prompt diagnosis and treatment is essential. Treatment typically includes intravenous antibiotics and surgery to remove infected and dead tissue.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by Miller syndrome ?"}, {"role": "assistant", "content": "Miller syndrome is a rare disorder; it is estimated to affect fewer than 1 in 1 million newborns. At least 30 cases have been reported in the medical literature.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Hypertrichosis lanuginosa congenita ?"}, {"role": "assistant", "content": "Hypertrichosis lanuginosa congenita is a congenital (present from birth) skin disease characterized by excessive lanugo (very fine, soft, unpigmented) hair covering the entire body, with the exception of the palms, soles, and mucous membranes. The hair can grow to be 3 to 5 cm in length. This condition appears to follow an autosomal dominant pattern of inheritance.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Causes of Diabetes ?"}, {"role": "assistant", "content": "Other types of diabetes have a variety of possible causes.\n \nGenetic Mutations Affecting Beta Cells, Insulin, and Insulin Action\n \nSome relatively uncommon forms of diabetes known as monogenic diabetes are caused by mutations, or changes, in a single gene. These mutations are usually inherited, but sometimes the gene mutation occurs spontaneously. Most of these gene mutations cause diabetes by reducing beta cells ability to produce insulin.\n \nThe most common types of monogenic diabetes are neonatal diabetes mellitus (NDM) and MODY. NDM occurs in the first 6 months of life. MODY is usually found during adolescence or early adulthood but sometimes is not diagnosed until later in life. More information about NDM and MODY is provided in the NIDDK health topic, Monogenic Forms of Diabetes.\n \nOther rare genetic mutations can cause diabetes by damaging the quality of insulin the body produces or by causing abnormalities in insulin receptors.\n \nOther Genetic Diseases\n \nDiabetes occurs in people with Down syndrome, Klinefelter syndrome, and Turner syndrome at higher rates than the general population. Scientists are investigating whether genes that may predispose people to genetic syndromes also predispose them to diabetes.\n \nThe genetic disorders cystic fibrosis and hemochromatosis are linked to diabetes. Cystic fibrosis produces abnormally thick mucus, which blocks the pancreas. The risk of diabetes increases with age in people with cystic fibrosis. Hemochromatosis causes the body to store too much iron. If the disorder is not treated, iron can build up in and damage the pancreas and other organs.\n \nDamage to or Removal of the Pancreas\n \nPancreatitis, cancer, and trauma can all harm the pancreatic beta cells or impair insulin production, thus causing diabetes. If the damaged pancreas is removed, diabetes will occur due to the loss of the beta cells.\n \nEndocrine Diseases\n \nEndocrine diseases affect organs that produce hormones. Cushings syndrome and acromegaly are examples of hormonal disorders that can cause prediabetes and diabetes by inducing insulin resistance. Cushings syndrome is marked by excessive production of cortisolsometimes called the stress hormone. Acromegaly occurs when the body produces too much growth hormone. Glucagonoma, a rare tumor of the pancreas, can also cause diabetes. The tumor causes the body to produce too much glucagon. Hyperthyroidism, a disorder that occurs when the thyroid gland produces too much thyroid hormone, can also cause elevated blood glucose levels.\n \nAutoimmune Disorders\n \nRare disorders characterized by antibodies that disrupt insulin action can lead to diabetes. This kind of diabetes is often associated with other autoimmune disorders such as lupus erythematosus. Another rare autoimmune disorder called stiff-man syndrome is associated with antibodies that attack the beta cells, similar to type 1 diabetes.\n \nMedications and Chemical Toxins\n \nSome medications, such as nicotinic acid and certain types of diuretics, anti-seizure drugs, psychiatric drugs, and drugs to treat human immunodeficiency virus (HIV), can impair beta cells or disrupt insulin action. Pentamidine, a drug prescribed to treat a type of pneumonia, can increase the risk of pancreatitis, beta cell damage, and diabetes. Also, glucocorticoidssteroid hormones that are chemically similar to naturally produced cortisolmay impair insulin action. Glucocorticoids are used to treat inflammatory illnesses such as rheumatoid arthritis, asthma, lupus, and ulcerative colitis.\n \nMany chemical toxins can damage or destroy beta cells in animals, but only a few have been linked to diabetes in humans. For example, dioxina contaminant of the herbicide Agent Orange, used during the Vietnam Warmay be linked to the development of type 2 diabetes. In 2000, based on a report from the Institute of Medicine, the U.S. Department of Veterans Affairs (VA) added diabetes to the list of conditions for which Vietnam veterans are eligible for disability compensation. Also, a chemical in a rat poison no longer in use has been shown to cause diabetes if ingested. Some studies suggest a high intake of nitrogen-containing chemicals such as nitrates and nitrites might increase the risk of diabetes. Arsenic has also been studied for possible links to diabetes.\n \nLipodystrophy\n \nLipodystrophy is a condition in which fat tissue is lost or redistributed in the body. The condition is associated with insulin resistance and type 2 diabetes.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Asbestos-Related Lung Diseases ?"}, {"role": "assistant", "content": "Your doctor will diagnose an asbestos-related lung disease based on your past exposure to asbestos, your symptoms, a physical exam, and test results.\n \nSpecialists Involved\n \nYour primary care doctor, such as a family doctor or internist, may provide ongoing care if you have an asbestos-related lung disease. Other specialists also may be involved in your care, including a:\n \nPulmonologist. This is a doctor who specializes in diagnosing and treating lung diseases.\n \nRadiologist. This is a doctor who is specially trained to supervise x-ray tests and look at x-ray pictures.\n \nSurgeon or oncologist. An oncologist is a doctor who specializes in diagnosing and treating cancer. The surgeon or oncologist may take a tissue sample from your lungs to study under a microscope.\n \nPathologist. A pathologist is a doctor who specializes in identifying diseases by studying cells and tissues under a microscope. A pathologist may study your tissue sample.\n \nExposure to Asbestos\n \nYour doctor will want to know about your history of asbestos exposure. He or she may ask about your work history and your spouse's or other family members work histories.\n \nYour doctor also may ask about your location and surroundings. For example, he or she may ask about areas of the country where you've lived.\n \nIf you know you were exposed to asbestos, your doctor may ask questions to find out:\n \nHow much asbestos you were exposed to. For example, were you surrounded by visible asbestos dust?\n \nHow long you were exposed to asbestos and how often during that time you were in direct contact with it.\n \nSymptoms\n \nYour doctor may ask whether you have any symptoms, such as shortness of breath or coughing. The symptoms of asbestos-related lung diseases vary. They depend on which disease you have and how much it has damaged your lungs.\n \nYour doctor also may ask whether you smoke. Smoking, along with asbestos exposure, raises your risk for lung cancer.\n \nPhysical Exam\n \nYour doctor will listen to your breathing with a stethoscope to find out whether your lungs are making any strange sounds.\n \nIf you have a pleural effusion with a lot of fluid buildup, your doctor might hear a dull sound when he or she taps on your chest. Or, he or she might have trouble hearing any breathing sounds. If you have asbestosis, your doctor may hear a crackling sound when you breathe in.\n \nYour doctor will check your legs for swelling, which may be a sign of lung-related problems. He or she also will check your fingers and toes for clubbing.\n \nClubbing is the widening and rounding of the fingertips and toes. Clubbing most often is linked to heart and lung diseases that cause lower-than-normal blood oxygen levels.\n \nChest X Ray\n \nA chest x ray is the most common test for detecting asbestos-related lung diseases. This painless test creates pictures of the structures inside your chest, such as the lungs.\n \nA chest x ray cant detect asbestos fibers in the lungs. However, it can show asbestos-related diseases, such as pleural plaque and pleural effusion. Pleural effusion also can be a sign of a more severe disease, such as mesothelioma.\n \nA chest x ray also can show asbestosis. Often the lung tissue will appear very white on the x-ray pictures. The size, shape, location, and degree of whiteness can help your doctor figure out how much lung damage you have. Severe asbestosis may affect the whole lung and have a honeycomb look on the x-ray pictures.\n \nIf you have lung cancer, a chest x ray may show masses or abnormal fluid.\n \nIf you have mesothelioma, a chest x ray will show thickening of the pleura. The pleura is the tissue around the lungs and diaphragm (the muscle below your lungs). The chest xray also will usually show signs of pleural effusion in people who have mesothelioma.\n \nOther Diagnostic Tests\n \nTo help confirm a chest x-ray finding, or to find out how much lung damage you have, you may have more tests.\n \nChest Computed Tomography Scan\n \nA chest computed tomography (to-MOG-ra-fee) scan, or chest CT scan, is a painless test that creates precise pictures of the structures inside your chest, such as your lungs. A CT scan is a type of x ray, but its pictures show more detail than standard chest x-ray pictures.\n \nA chest CT scan may be very helpful for finding asbestosis in its earliest stages, before a standard chest x ray can detect it.\n \nLung Function Tests\n \nLung function tests measure how much air you can breathe in and out, how fast you can breathe air out, and how well your lungs deliver oxygen to your blood.\n \nThese tests can show whether your lung function is impaired. They also can help your doctor track your disease over time.\n \nBiopsy\n \nThe only way to confirm a diagnosis of lung cancer or mesothelioma is for a pathologist to check samples of your lung cells or tissues. A pathologist is a doctor who identifies diseases by studying cells and tissues under a microscope.\n \nDoctors have many ways to collect tissue samples. One way is through bronchoscopy (bron-KOS-ko-pee). For this procedure, your doctor will pass a thin, flexible tube through your nose (or sometimes your mouth), down your throat, and into your airways. He or she will then take a sample of tissue from your lungs.\n \nIf your doctor thinks you have mesothelioma, you may have a thoracoscopy (thor-ah-KOS-ko-pee). For this procedure, you'll be given medicine so you don't feel any pain.\n \nYour doctor will make a small cut through your chest wall. He or she will put a thin tube with a light on it into your chest between two ribs. This allows your doctor to see inside your chest and get tissue samples.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Whiplash ?"}, {"role": "assistant", "content": "Whiplash-a soft tissue injury to the neck-is also called neck sprain or neck strain. It is characterized by a collection of symptoms that occur following damage to the neck, usually because of sudden extension and flexion. The disorder commonly occurs as the result of an automobile accident and may include injury to intervertebral joints, discs, and ligaments, cervical muscles, and nerve roots. Symptoms such as neck pain may be present directly after the injury or may be delayed for several days. In addition to neck pain, other symptoms may include neck stiffness, injuries to the muscles and ligaments (myofascial injuries), headache, dizziness, abnormal sensations such as burning or prickling (paresthesias), or shoulder or back pain. In addition, some people experience cognitive, somatic, or psychological conditions such as memory loss, concentration impairment, nervousness/irritability, sleep disturbances, fatigue, or depression.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "are certain people at risk of getting vancomycin-resistant enterococci?"}, {"role": "assistant", "content": "On this Page General Information What is vancomycin-resistant enterococci? What types of infections does vancomycin-resistant enterococci cause? Are certain people at risk of getting vancomycin-resistant enterococci? What is the treatment for vancomycin-resistant enterococci? How is vancomycin-resistant enterococci spread? How can patients prevent the spread of vancomycin-resistant enterococci? What should a patient do if they think they have vancomycin-resistant enterococci? Recommendations and Guidelines General Information For more images of this bacterium, search the Public Health Image Library What is vancomycin-resistant enterococci? Enteroccocci are bacteria that are normally present in the human intestines and in the female genital tract and are often found in the environment. These bacteria can sometimes cause infections. Vancomycin is an antibiotic that is used to treat some drug-resistant infections caused by enterococci. In some instances, enterococci have become resistant to this drug and thus are called vancomycin-resistant enterococci (VRE). Most VRE infections occur in hospitals. Top of page What types of infections does VRE cause? VRE can live in the human intestines and female genital tract without causing disease (often called colonization). However, sometimes it can cause infections of the urinary tract, the bloodstream, or of wounds associated with catheters or surgical procedures. Top of page Are certain people at risk of getting VRE? The following persons are at increased risk becoming infected with VRE: People who have been previously treated with the antibiotic vancomycin or other antibiotics for long periods of time. People who are hospitalized, particularly when they receive antibiotic treatment for long periods of time. People with weakened immune systems such as patients in intensive care units, or in cancer or transplant wards. People who have undergone surgical procedures such as abdominal or chest surgery. People with medical devices that stay in for some time such as urinary catheters or central intravenous (IV) catheters. People who are colonized with VRE. Top of page What is the treatment for VRE? People with colonized VRE (bacteria are present, but have no symptoms of an infection) do not need treatment. Most VRE infections can be treated with antibiotics other than vancomycin. Laboratory testing of the VRE can determine which antibiotics will work. For people who get VRE infections in their bladder and have urinary catheters, removal of the catheter when it is no longer needed can also help get rid of the infection. Top of page How is VRE spread? VRE is often passed from person to person by the contaminated hands of caregivers. VRE can get onto a caregiver's hands after they have contact with other people with VRE or after contact with contaminated surfaces. VRE can also be spread directly to people after they touch surfaces that are contaminated with VRE. VRE is not spread through the air by coughing or sneezing. Top of page How can patients prevent the spread of VRE? If a patient or someone in their household has VRE, the following are some things they can do to prevent the spread of VRE: Keep their hands clean. Always wash their hands thoroughly after using the bathroom and before preparing food. Clean their hands after contact with persons who have VRE. Wash with soap and water (particularly when visibly soiled) or use alcohol-based hand rubs. Frequently clean areas of the home, such as bathrooms, that may become contaminated with VRE. Wear gloves if hands may come in contact with body fluids that may contain VRE, such as stool or bandages from infected wounds. Always wash their hands after removing gloves. If someone has VRE, be sure to tell healthcare providers so that they are aware of the infection. Healthcare facilities use special precautions to help prevent the spread of VRE to others. Top of page What should patients do if they think they have vancomycin-resistant enterococci (VRE)? Anyone who thinks they have VRE must talk with their healthcare provider. Top of page Recommendations and Guidelines For more information about prevention and treatment of HAIs, see the resources below: Siegel JD, Rhinehart E, Jackson M, et al. The Healthcare Infection Control Practices Advisory Committee (HICPAC). Management of Multidrug-Resistant Organisms In Healthcare Settings, 2006", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) High Blood Pressure in Pregnancy ?"}, {"role": "assistant", "content": "If you are pregnant, high blood pressure can cause problems for you and your unborn baby. You may have had high blood pressure before you got pregnant. Or you may get it once you are pregnant - a condition called gestational hypertension. Either one can cause low birth weight or premature delivery of the baby. Controlling your blood pressure during pregnancy and getting regular prenatal care are important for the health of you and your baby. Treatments for high blood pressure in pregnancy may include close monitoring of the baby, lifestyle changes, and certain medicines. Some pregnant women with high blood pressure develop preeclampsia. It's a sudden increase in blood pressure after the 20th week of pregnancy. It can be life-threatening for both you and the unborn baby. There is no proven way to prevent it. Most women who have signs of preeclampsia are closely monitored to lessen or avoid complications. The only way to \"cure\" preeclampsia is to deliver the baby. NIH: National Heart, Lung, and Blood Institute", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Camptodactyly syndrome Guadalajara type 3 ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Camptodactyly syndrome Guadalajara type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Camptodactyly syndrome Guadalajara type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the pinna - Absent phalangeal crease - Autosomal dominant inheritance - Camptodactyly - Delayed skeletal maturation - Flat face - Hypertelorism - Intellectual disability, mild - Joint contracture of the hand - Malar flattening - Micropenis - Muscular hypotonia - Nevus - Retrognathia - Short neck - Small hypothenar eminence - Small thenar eminence - Spina bifida occulta - Telecanthus - Torticollis - Webbed neck - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for dermatofibrosarcoma protuberans ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of dermatofibrosarcoma protuberans: - American Cancer Society: How are Soft Tissue Sarcomas Diagnosed? - American Cancer Society: Treatment of Soft Tissue Sarcomas - Genetic Testing Registry: Dermatofibrosarcoma protuberans - National Cancer Institute: Adult Soft Tissue Sarcoma - National Cancer Institute: Targeted Cancer Therapies These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to carnitine palmitoyltransferase II deficiency ?"}, {"role": "assistant", "content": "Mutations in the CPT2 gene cause CPT II deficiency. This gene provides instructions for making an enzyme called carnitine palmitoyltransferase 2. This enzyme is essential for fatty acid oxidation, which is the multistep process that breaks down (metabolizes) fats and converts them into energy. Fatty acid oxidation takes place within mitochondria, which are the energy-producing centers in cells. A group of fats called long-chain fatty acids must be attached to a substance known as carnitine to enter mitochondria. Once these fatty acids are inside mitochondria, carnitine palmitoyltransferase 2 removes the carnitine and prepares them for fatty acid oxidation. Fatty acids are a major source of energy for the heart and muscles. During periods of fasting, fatty acids are also an important energy source for the liver and other tissues. Mutations in the CPT2 gene reduce the activity of carnitine palmitoyltransferase 2. Without enough of this enzyme, carnitine is not removed from long-chain fatty acids. As a result, these fatty acids cannot be metabolized to produce energy. Reduced energy production can lead to some of the features of CPT II deficiency, such as hypoketotic hypoglycemia, myalgia, and weakness. Fatty acids and long-chain acylcarnitines (fatty acids still attached to carnitine) may also build up in cells and damage the liver, heart, and muscles. This abnormal buildup causes the other signs and symptoms of the disorder.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Pelizaeus-Merzbacher disease ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of Pelizaeus-Merzbacher disease: - Gene Review: Gene Review: PLP1-Related Disorders - Genetic Testing Registry: Pelizaeus-Merzbacher disease These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Nonalcoholic Steatohepatitis ?"}, {"role": "assistant", "content": "NASH is usually a silent disease with few or no symptoms. Patients generally feel well in the early stages and only begin to have symptomssuch as fatigue, weight loss, and weaknessonce the disease is more advanced or cirrhosis develops. The progression of NASH can take years, even decades. The process can stop and, in some cases, reverse on its own without specific therapy. Or NASH can slowly worsen, causing scarring or fibrosis to appear and accumulate in the liver. As fibrosis worsens, cirrhosis develops; the liver becomes seriously scarred, hardened, and unable to function normally. Not every person with NASH develops cirrhosis, but once serious scarring or cirrhosis is present, few treatments can halt the progression. A person with cirrhosis experiences fluid retention, muscle wasting, bleeding from the intestines, and liver failure. Liver transplantation is the only treatment for advanced cirrhosis with liver failure, and transplantation is increasingly performed in people with NASH. NASH ranks as one of the major causes of cirrhosis in America, behind hepatitis C and alcoholic liver disease.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "what are the symptoms for Hantavirus ?"}, {"role": "assistant", "content": "Due to the small number of HPS cases, the \"incubation time\" is not positively known. However, on the basis of limited information, it appears that symptoms may develop between 1 and 5 weeks after exposure to fresh urine, droppings, or saliva of infected rodents.\n Early Symptoms\n \n \n \nEarly symptoms include fatigue, fever and muscle aches, especially in the large muscle groups\u2014thighs, hips, back, and sometimes shoulders. These symptoms are universal.\n \nThere may also be headaches, dizziness, chills, and abdominal problems, such as nausea, vomiting, diarrhea, and abdominal pain. About half of all HPS patients experience these symptoms.\n \n Late Symptoms\n \n \n \nFour to 10 days after the initial phase of illness, the late symptoms of HPS appear. These include coughing and shortness of breath, with the sensation of, as one survivor put it, a \"...tight band around my chest and a pillow over my face\" as the lungs fill with fluid.\n \n Is the Disease Fatal?\n \nYes. HPS can be fatal. It has a mortality rate of 38%.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Spastic paraplegia 2 ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Spastic paraplegia 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Gait disturbance 90% Hyperreflexia 90% Muscle weakness 90% Abnormal renal physiology 50% Abnormality of extrapyramidal motor function 50% Bowel incontinence 50% Cognitive impairment 50% Optic atrophy 50% Incoordination 7.5% Limitation of joint mobility 7.5% Neurological speech impairment 7.5% Nystagmus 7.5% Pulmonary embolism 7.5% Recurrent respiratory infections 7.5% Babinski sign - Degeneration of the lateral corticospinal tracts - Dysarthria - Dysmetria - Flexion contracture - Intellectual disability - Juvenile onset - Lower limb muscle weakness - Lower limb spasticity - Pes cavus - Phenotypic variability - Skeletal muscle atrophy - Spastic gait - Spastic paraparesis - Spastic paraplegia - Spinocerebellar tract degeneration - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Simple Kidney Cysts ?"}, {"role": "assistant", "content": "Simple kidney cysts are abnormal, fluid-filled sacs that form in the kidneys. Simple kidney cysts are different from the cysts that develop when a person has polycystic kidney disease (PKD), which is a genetic disorder. Simple kidney cysts do not enlarge the kidneys, replace their normal structure, or cause reduced kidney function like cysts do in people with PKD.\n \nSimple kidney cysts are more common as people age. An estimated 25 percent of people 40 years of age and 50 percent of people 50 years of age have simple kidney cysts.1", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Chronic Myelogenous Leukemia ?"}, {"role": "assistant", "content": "Signs and symptoms of chronic myelogenous leukemia include fever, night sweats, and tiredness. These and other signs and symptoms may be caused by CML or by other conditions. Check with your doctor if you have any of the following: - Feeling very tired. - Weight loss for no known reason. - Night sweats. - Fever. - Pain or a feeling of fullness below the ribs on the left side. Sometimes CML does not cause any symptoms at all.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Hemifacial Spasm ?"}, {"role": "assistant", "content": "Surgical treatment in the form of microvascular decompression, which relieves pressure on the facial nerve, will relieve hemifacial spasm in many cases. This intervention has significant potential side-effects, so risks and benefits have to be carefully balanced. Other treatments include injections of botulinum toxin into the affected areas, which is the most effective therapy and the only one used in most cases. Drug therapy is generally not effective.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Early Infantile Epileptic Encephalopathy ?"}, {"role": "assistant", "content": "Ohtahara syndrome is a neurological disorder characterized by seizures. The disorder affects newborns, usually within the first three months of life (most often within the first 10 days) in the form of epileptic seizures. Infants have primarily tonic seizures (which cause stiffening of muscles of the body, generally those in the back, legs, and arms), but may also experience partial seizures, and rarely, myoclonic seizures (which cause jerks or twitches of the upper body, arms, or legs). Ohtahara syndrome is most commonly caused by metabolic disorders or structural damage in the brain, although the cause or causes for many cases cant be determined. Most infants with the disorder show significant underdevelopment of part or all of the cerebral hemispheres. The EEGs of infants with Ohtahara syndrome reveal a characteristic pattern of high voltage spike wave discharge followed by little activity. This pattern is known as burst suppression. The seizures associated with Ohtahara syndrome are difficult to treat and the syndrome is severely progressive. Some children with this condition go on to develop other epileptic disorders such as West syndrome and Lennox-Gestaut syndrome.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Hailey-Hailey disease ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Hailey-Hailey disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Hailey-Hailey disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal blistering of the skin 90% Abnormality of the oral cavity 90% Acantholysis 90% Hyperkeratosis 90% Skin ulcer 90% Autosomal dominant inheritance - Erythema - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) androgenetic alopecia ?"}, {"role": "assistant", "content": "Androgenetic alopecia is a common form of hair loss in both men and women. In men, this condition is also known as male-pattern baldness. Hair is lost in a well-defined pattern, beginning above both temples. Over time, the hairline recedes to form a characteristic \"M\" shape. Hair also thins at the crown (near the top of the head), often progressing to partial or complete baldness. The pattern of hair loss in women differs from male-pattern baldness. In women, the hair becomes thinner all over the head, and the hairline does not recede. Androgenetic alopecia in women rarely leads to total baldness. Androgenetic alopecia in men has been associated with several other medical conditions including coronary heart disease and enlargement of the prostate. Additionally, prostate cancer, disorders of insulin resistance (such as diabetes and obesity), and high blood pressure (hypertension) have been related to androgenetic alopecia. In women, this form of hair loss is associated with an increased risk of polycystic ovary syndrome (PCOS). PCOS is characterized by a hormonal imbalance that can lead to irregular menstruation, acne, excess hair elsewhere on the body (hirsutism), and weight gain.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for X-linked thrombocytopenia ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of X-linked thrombocytopenia: - Gene Review: Gene Review: WAS-Related Disorders - Genetic Testing Registry: Thrombocytopenia, X-linked - National Heart Lung and Blood Institute: How is Thrombocytopenia Treated? These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by glycogen storage disease type IX ?"}, {"role": "assistant", "content": "GSD IX that affects the liver is estimated to occur in 1 in 100,000 people. The forms of the disease that affect muscles or both muscles and liver are much less common, although the prevalence is unknown.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by Renpenning syndrome ?"}, {"role": "assistant", "content": "Renpenning syndrome is a rare disorder; its prevalence is unknown. More than 60 affected individuals in at least 15 families have been identified.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Pigmented purpuric eruption ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Pigmented purpuric eruption? Pigmented purpuric eruption is characterized by reddish-brown patches on the skin. These patches result from tiny red dots, sometimes referred to as cayenne pepper spots, which group together to form a flat red patch. Over time, these patches become brown and then slowly fade away, over weeks to months. There have been no systemic symptoms reported with pigmented purpuric eruption. The Human Phenotype Ontology provides the following list of signs and symptoms for Pigmented purpuric eruption. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the skin - Autosomal dominant inheritance - Neonatal onset - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is glycine encephalopathy inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "what research (or clinical trials) is being done for Congenital Myopathy ?"}, {"role": "assistant", "content": "The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research related to congenital myopathies in their laboratories at the NIH and also support additional research through grants to major medical institutions across the country. Much of this research focuses on finding better ways to prevent, treat, and ultimately cure the disorders that make up the congenital myopathies.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of COACH syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of COACH syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for COACH syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia of the cerebellum 90% Apnea 90% Biliary tract abnormality 90% Cognitive impairment 90% Congenital hepatic fibrosis 90% Elevated hepatic transaminases 90% Hepatomegaly 90% Incoordination 90% Muscular hypotonia 90% Oculomotor apraxia 90% Chorioretinal coloboma 50% Feeding difficulties in infancy 50% Gait disturbance 50% Hyperreflexia 50% Iris coloboma 50% Long face 50% Narrow forehead 50% Nephropathy 50% Nystagmus 50% Optic nerve coloboma 50% Visual impairment 50% Abnormality of neuronal migration 7.5% Abnormality of the hypothalamus-pituitary axis 7.5% Abnormality of the oral cavity 7.5% Anteverted nares 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Chronic hepatic failure 7.5% Cirrhosis 7.5% Encephalocele 7.5% Hernia of the abdominal wall 7.5% Highly arched eyebrow 7.5% Hydrocephalus 7.5% Low-set, posteriorly rotated ears 7.5% Macrocephaly 7.5% Multicystic kidney dysplasia 7.5% Neoplasm of the liver 7.5% Oral cleft 7.5% Portal hypertension 7.5% Postaxial hand polydactyly 7.5% Prominent nasal bridge 7.5% Ptosis 7.5% Renal insufficiency 7.5% Scoliosis 7.5% Seizures 7.5% Splenomegaly 7.5% Strabismus 7.5% Tremor 7.5% Ataxia - Autosomal recessive inheritance - Cerebellar vermis hypoplasia - Coloboma - Growth delay - Hepatic fibrosis - Heterogeneous - Hypertelorism - Infantile onset - Intellectual disability, moderate - Molar tooth sign on MRI - Multiple small medullary renal cysts - Nephronophthisis - Occipital encephalocele - Round face - Spasticity - Wide mouth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by trichohepatoenteric syndrome ?"}, {"role": "assistant", "content": "Trichohepatoenteric syndrome is a rare condition with an estimated prevalence of about 1 in 1 million people. At least 44 cases have been reported in the medical literature.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Congenital adrenal hyperplasia ?"}, {"role": "assistant", "content": "Congenital adrenal hyperplasia (CAH) refers to a group of genetic conditions that affect the adrenal glands. These glands sit on top of the kidneys and are responsible for releasing various types of hormones that the body needs to function. Affected people lack an enzyme the adrenal glands need to make one or more of these hormones and often overproduce androgens (male hormones such as testosterone). The signs and symptoms present in each person depend on many factors including the type of CAH, the age of diagnosis, and the sex of the affected person. For example, females with a severe form of the condition may have ambiguous genitalia at birth and if not properly diagnosed, develop dehydration, poor feeding, diarrhea, vomiting and other health problems soon after. People with milder forms may not be diagnosed with the condition until adolescence or adulthood when they experience early signs of puberty or fertility problems. Treatment for CAH varies but may include medication and/or surgery.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is triple A syndrome inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Child Behavior Disorders ?"}, {"role": "assistant", "content": "All kids misbehave some times. And some may have temporary behavior problems due to stress. For example, the birth of a sibling, a divorce, or a death in the family may cause a child to act out. Behavior disorders are more serious. They involve a pattern of hostile, aggressive, or disruptive behaviors for more than 6 months. The behavior is also not appropriate for the child's age. Warning signs can include - Harming or threatening themselves, other people or pets - Damaging or destroying property - Lying or stealing - Not doing well in school, skipping school - Early smoking, drinking or drug use - Early sexual activity - Frequent tantrums and arguments - Consistent hostility towards authority figures If you see signs of a problem, ask for help. Poor choices can become habits. Kids who have behavior problems are at higher risk for school failure, mental health problems, and even suicide. Classes or family therapy may help parents learn to set and enforce limits. Talk therapy and behavior therapy for your child can also help.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is the outlook for Hypertonia ?"}, {"role": "assistant", "content": "The prognosis depends upon the severity of the hypertonia and its cause. In some cases, such as cerebral palsy, the hypertonia may not change over the course of a lifetime. in other cases, the hypertonia may worsen along with the underlying disease If the hypertonia is mild, it has little or no effect on a person's health. If there is moderate hypertonia, falls or joint contractures may have an impact on a person's health and safety. If the hypertonia is so severe that is caused immobility, potential consequences include increased bone fragility and fracture, infection, bed sores, and pneumonia.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) familial pityriasis rubra pilaris ?"}, {"role": "assistant", "content": "Familial pityriasis rubra pilaris is a rare genetic condition that affects the skin. The name of the condition reflects its major features: The term \"pityriasis\" refers to scaling; \"rubra\" means redness; and \"pilaris\" suggests the involvement of hair follicles in this disorder. Affected individuals have a salmon-colored skin rash covered in fine scales. This rash occurs in patches all over the body, with distinct areas of unaffected skin between the patches. Affected individuals also develop bumps called follicular keratoses that occur around hair follicles. The skin on the palms of the hands and soles of the feet often becomes thick, hard, and callused, a condition known as palmoplantar keratoderma. Researchers have distinguished six types of pityriasis rubra pilaris based on the features of the disorder and the age at which signs and symptoms appear. The familial form is usually considered part of type V, which is also known as the atypical juvenile type. People with familial pityriasis rubra pilaris typically have skin abnormalities from birth or early childhood, and these skin problems persist throughout life.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Aneurysm ?"}, {"role": "assistant", "content": "The signs and symptoms of an aortic aneurysm depend on the type and location of the aneurysm. Signs and symptoms also depend on whether the aneurysm has ruptured (burst) or is affecting other parts of the body.\n \nAneurysms can develop and grow for years without causing any signs or symptoms. They often don't cause signs or symptoms until they rupture, grow large enough to press on nearby body parts, or block blood flow.\n \nAbdominal Aortic Aneurysms\n \nMost abdominal aortic aneurysms (AAAs) develop slowly over years. They often don't cause signs or symptoms unless they rupture. If you have an AAA, your doctor may feel a throbbing mass while checking your abdomen.\n \nWhen symptoms are present, they can include:\n \nA throbbing feeling in the abdomen\n \nDeep pain in your back or the side of your abdomen\n \nSteady, gnawing pain in your abdomen that lasts for hours or days\n \nIf an AAA ruptures, symptoms may include sudden, severe pain in your lower abdomen and back; nausea (feeling sick to your stomach) and vomiting; constipation and problems with urination; clammy, sweaty skin; light-headedness; and a rapid heart rate when standing up.\n \nInternal bleeding from a ruptured AAA can send you into shock. Shock is a life-threatening condition in which blood pressure drops so low that the brain, kidneys, and other vital organs can't get enough blood to work well. Shock can be fatal if its not treated right away.\n \nThoracic Aortic Aneurysms\n \nA thoracic aortic aneurysm (TAA) may not cause symptoms until it dissects or grows large. If you have symptoms, they may include:\n \nPain in your jaw, neck, back, or chest\n \nCoughing and/or hoarseness\n \nShortness of breath and/or trouble breathing or swallowing\n \nA dissection is a split in one or more layers of the artery wall. The split causes bleeding into and along the layers of the artery wall.\n \nIf a TAA ruptures or dissects, you may feel sudden, severe, sharp or stabbing pain starting in your upper back and moving down into your abdomen. You may have pain in your chest and arms, and you can quickly go into shock.\n \nIf you have any symptoms of TAA or aortic dissection, call 911. If left untreated, these conditions may lead to organ damage or death.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for late-infantile neuronal ceroid lipofuscinosis ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of late-infantile neuronal ceroid lipofuscinosis: - Gene Review: Gene Review: Neuronal Ceroid-Lipofuscinoses - Genetic Testing Registry: Ceroid lipofuscinosis neuronal 5 - Genetic Testing Registry: Ceroid lipofuscinosis neuronal 6 - Genetic Testing Registry: Ceroid lipofuscinosis neuronal 7 - Genetic Testing Registry: Ceroid lipofuscinosis neuronal 8 - Genetic Testing Registry: Late-infantile neuronal ceroid lipofuscinosis - Genetic Testing Registry: Neuronal ceroid lipofuscinosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) mucopolysaccharidosis type II ?"}, {"role": "assistant", "content": "Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is a condition that affects many different parts of the body and occurs almost exclusively in males. It is a progressively debilitating disorder; however, the rate of progression varies among affected individuals. At birth, individuals with MPS II do not display any features of the condition. Between ages 2 and 4, they develop full lips, large rounded cheeks, a broad nose, and an enlarged tongue (macroglossia). The vocal cords also enlarge, which results in a deep, hoarse voice. Narrowing of the airway causes frequent upper respiratory infections and short pauses in breathing during sleep (sleep apnea). As the disorder progresses, individuals need medical assistance to keep their airway open. Many other organs and tissues are affected in MPS II. Individuals with this disorder often have a large head (macrocephaly), a buildup of fluid in the brain (hydrocephalus), an enlarged liver and spleen (hepatosplenomegaly), and a soft out-pouching around the belly-button (umbilical hernia) or lower abdomen (inguinal hernia). People with MPS II usually have thick skin that is not very stretchy. Some affected individuals also have distinctive white skin growths that look like pebbles. Most people with this disorder develop hearing loss and have recurrent ear infections. Some individuals with MPS II develop problems with the light-sensitive tissue in the back of the eye (retina) and have reduced vision. Carpal tunnel syndrome commonly occurs in children with this disorder and is characterized by numbness, tingling, and weakness in the hand and fingers. Narrowing of the spinal canal (spinal stenosis) in the neck can compress and damage the spinal cord. The heart is also significantly affected by MPS II, and many individuals develop heart valve problems. Heart valve abnormalities can cause the heart to become enlarged (ventricular hypertrophy) and can eventually lead to heart failure. Children with MPS II grow steadily until about age 5, and then their growth slows and they develop short stature. Individuals with this condition have joint deformities (contractures) that significantly affect mobility. Most people with MPS II also have dysostosis multiplex, which refers to multiple skeletal abnormalities seen on x-ray. Dysostosis multiplex includes a generalized thickening of most long bones, particularly the ribs. There are two types of MPS II, called the severe and mild types. While both types affect many different organs and tissues as described above, people with severe MPS II also experience a decline in intellectual function and a more rapid disease progression. Individuals with the severe form begin to lose basic functional skills (developmentally regress) between the ages of 6 and 8. The life expectancy of these individuals is 10 to 20 years. Individuals with mild MPS II also have a shortened lifespan, but they typically live into adulthood and their intelligence is not affected. Heart disease and airway obstruction are major causes of death in people with both types of MPS II.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the complications of Alagille Syndrome ?"}, {"role": "assistant", "content": "The complications of Alagille syndrome include liver failure, portal hypertension, and growth problems. People with Alagille syndrome usually have a combination of complications, and may not have every complication listed below.\n \nLiver failure. Over time, the decreased number of bile ducts may lead to chronic liver failure, also called end-stage liver disease. This condition progresses over months, years, or even decades. The liver can no longer perform important functions or effectively replace damaged cells. A person may need a liver transplant. A liver transplant is surgery to remove a diseased or an injured liver and replace it with a healthy whole liver or a segment of a liver from another person, called a donor.\n \nPortal hypertension. The spleen is the organ that cleans blood and makes white blood cells. White blood cells attack bacteria and other foreign cells. Blood flow from the spleen drains directly into the liver. When a person with Alagille syndrome has advanced liver disease, the blood flow backs up into the spleen and other blood vessels. This condition is called portal hypertension. The spleen may become larger in the later stages of liver disease. A person with an enlarged spleen should avoid contact sports to protect the organ from injury. Advanced portal hypertension can lead to serious bleeding problems.\n \nGrowth problems. Alagille syndrome can lead to poor growth in infants and children, as well as delayed puberty in older children. Liver disease can cause malabsorption, which can result in growth problems. Malabsorption is the inability of the small intestine to absorb nutrients from foods, which results in protein, calorie, and vitamin deficiencies. Serious heart problems, if present in Alagille syndrome, can also affect growth.\n \nMalabsorption. People with Alagille syndrome may have diarrhealoose, watery stoolsdue to malabsorption. The condition occurs because bile is necessary for the digestion of food. Malabsorption can lead to bone fractures, eye problems, blood-clotting problems, and learning delays.\n \nLong-term Outlook\n \nThe long-term outlook for people with Alagille syndrome depends on several factors, including the severity of liver damage and heart problems. Predicting who will experience improved bile flow and who will progress to chronic liver failure is difficult. Ten to 30 percent of people with Alagille syndrome will eventually need a liver transplant.3\n \nMany adults with Alagille syndrome whose symptoms improve with treatment lead normal, productive lives. Deaths in people with Alagille syndrome are most often caused by chronic liver failure, heart problems, and blood vessel problems.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is thiamine-responsive megaloblastic anemia syndrome inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Childbirth ?"}, {"role": "assistant", "content": "When you are ready to have your baby, you'll go through labor. Contractions let you know labor is starting. When contractions are five minutes apart, your body is ready to push the baby out. During the first stage of labor, your cervix slowly opens, or dilates, to about 4 inches wide. At the same time, it becomes thinner. This is called effacement. You shouldn't push until your uterus is fully effaced and dilated. When it is, the baby delivery stage starts. Crowning is when your baby's scalp comes into view. Shortly afterward, your baby is born. The placenta that nourished the baby follows. Mothers and babies are monitored closely during labor. Most women are healthy enough to have a baby through normal vaginal delivery, meaning that the baby comes down the birth canal without surgery. If there are complications, the baby may need to be delivered surgically by a Cesarean section. Dept. of Health and Human Services Office on Women's Health", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) childhood myocerebrohepatopathy spectrum ?"}, {"role": "assistant", "content": "Childhood myocerebrohepatopathy spectrum, commonly called MCHS, is part of a group of conditions called the POLG-related disorders. The conditions in this group feature a range of similar signs and symptoms involving muscle-, nerve-, and brain-related functions. MCHS typically becomes apparent in children from a few months to 3 years old. People with this condition usually have problems with their muscles (myo-), brain (cerebro-), and liver (hepato-). Common signs and symptoms of MCHS include muscle weakness (myopathy), developmental delay or a deterioration of intellectual function, and liver disease. Another possible sign of this condition is a toxic buildup of lactic acid in the body (lactic acidosis). Often, affected children are unable to gain weight and grow at the expected rate (failure to thrive). Additional signs and symptoms of MCHS can include a form of kidney disease called renal tubular acidosis, inflammation of the pancreas (pancreatitis), recurrent episodes of nausea and vomiting (cyclic vomiting), or hearing loss.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Spinocerebellar ataxia 34 ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Spinocerebellar ataxia 34? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 34. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Dry skin 90% Gait disturbance 90% Hypermelanotic macule 90% Hypohidrosis 90% Incoordination 90% Neurological speech impairment 90% Nystagmus 90% Urticaria 90% Abnormality of the musculature 7.5% Facial asymmetry 7.5% Strabismus 7.5% Fasciculations 5% Intention tremor 5% Autosomal dominant inheritance - Cerebellar atrophy - Dysarthria - Dysdiadochokinesis - Gait ataxia - Hyperkeratosis - Hyporeflexia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for craniometaphyseal dysplasia ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of craniometaphyseal dysplasia: - Gene Review: Gene Review: Craniometaphyseal Dysplasia, Autosomal Dominant - Genetic Testing Registry: Craniometaphyseal dysplasia, autosomal dominant - Genetic Testing Registry: Craniometaphyseal dysplasia, autosomal recessive type - MedlinePlus Encyclopedia: Facial Paralysis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Total Hypotrichosis, Mari type ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Total Hypotrichosis, Mari type? The Human Phenotype Ontology provides the following list of signs and symptoms for Total Hypotrichosis, Mari type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Woolly hair 5% Autosomal recessive inheritance - Hypotrichosis - Sparse eyebrow - Sparse eyelashes - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Pyelonephritis: Kidney Infection ?"}, {"role": "assistant", "content": "Symptoms of pyelonephritis can vary depending on a persons age and may include the following:\n \n- fever - vomiting - back, side, and groin pain - chills - nausea - frequent, painful urination\n \nChildren younger than 2 years old may only have a high fever without symptoms related to the urinary tract. Older people may not have any symptoms related to the urinary tract either; instead, they may exhibit confusion, disordered speech, or hallucinations.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Malignant hyperthermia susceptibility type 3 ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Malignant hyperthermia susceptibility type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Malignant hyperthermia susceptibility type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Alcohol-induced rhabdomyolysis - Anesthetic-induced rhabdomylosis - Elevated serum creatine phosphokinase - Exercise-induced rhabdomyolysis - Fever - Heterogeneous - Hyperkalemia - Hyperphosphatemia - Hypertonia - Lactic acidosis - Malignant hyperthermia - Myopathy - Viral infection-induced rhabdomyolysis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What to do for Pyelonephritis: Kidney Infection ?"}, {"role": "assistant", "content": "Eating, diet, and nutrition have not been shown to play a role in causing or preventing pyelonephritis.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by Meckel syndrome ?"}, {"role": "assistant", "content": "Meckel syndrome affects 1 in 13,250 to 1 in 140,000 people worldwide. It is more common in certain populations; for example, the condition affects about 1 in 9,000 people of Finnish ancestry and about 1 in 3,000 people of Belgian ancestry.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Joubert syndrome inherited ?"}, {"role": "assistant", "content": "Joubert syndrome typically has an autosomal recessive pattern of inheritance, which means both copies of a gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they usually do not show signs and symptoms of the condition. Rare cases of Joubert syndrome are inherited in an X-linked recessive pattern. In these cases, the causative gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Inflammatory breast cancer ?"}, {"role": "assistant", "content": "Inflammatory breast cancer (IBC) is a rare and aggressive type of breast cancer in which the cancer cells block the lymph vessels in the skin of the breast. This type of breast cancer is called inflammatory because the breast often looks swollen and red, or inflamed. The skin may also look dimpled like the skin of an orange. IBC can be difficult to diagnose because there is no lump to feel or detect on a mammogram. It is crucial to identify IBC right away because early diagnosis and treatment can greatly improve the outcome. Patients are often given a combination of treatments, including chemotherapy, surgery, and radiation therapy. Approximately one-third of individuals diagnosed with IBC will become long-term survivors. Like other types of breast cancer, IBC can occur in men, but usually at an older age than in women. Some studies have shown an association between family history of breast cancer and IBC, but more studies are needed to draw firm conclusions.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Cerebro-Oculo-Facio-Skeletal Syndrome (COFS) ?"}, {"role": "assistant", "content": "Treatment is supportive and symptomatic. Individuals with the disorder often require tube feeding. Because COFS is genetic, genetic counseling is available.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Banki syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Banki syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Banki syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the metacarpal bones 90% Brachydactyly syndrome 90% Clinodactyly of the 5th finger 90% Synostosis of carpal bones 90% Autosomal dominant inheritance - Clinodactyly - Radial deviation of finger - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Waldenstrm macroglobulinemia inherited ?"}, {"role": "assistant", "content": "Waldenstrm macroglobulinemia is usually not inherited, and most affected people have no history of the disorder in their family. The condition usually arises from mutations that are acquired during a person's lifetime (somatic mutations), which are not inherited. Some families seem to have a predisposition to the condition. Approximately 20 percent of people with Waldenstrm macroglobulinemia have a family member with the condition or another disorder involving abnormal B cells.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Holes in the Heart ?"}, {"role": "assistant", "content": "Doctors usually diagnose holes in the heart based on a physical exam and the results from tests and procedures. The exam findings for an atrial septal defect (ASD) often aren't obvious. Thus, the diagnosis sometimes isn't made until later in childhood or even in adulthood.\n \nVentricular septal defects (VSDs) cause a very distinct heart murmur. Because of this, a diagnosis usually is made in infancy.\n \nSpecialists Involved\n \nDoctors who specialize in diagnosing and treating heart problems are called cardiologists. Pediatric cardiologists take care of babies and children who have heart problems. Cardiac surgeons repair heart defects using surgery.\n \nPhysical Exam\n \nDuring a physical exam, your child's doctor will listen to your child's heart and lungs with a stethoscope. The doctor also will look for signs of a heart defect, such as a heart murmur or signs of heart failure.\n \nDiagnostic Tests and Procedures\n \nYour child's doctor may recommend several tests to diagnose an ASD or VSD. These tests also will help the doctor figure out the location and size of the defect.\n \nEchocardiography\n \nEchocardiography (echo) is a painless test that uses sound waves to create a moving picture of the heart. The sound waves (called ultrasound) bounce off the structures of the heart. A computer converts the sound waves into pictures on a screen.\n \nEcho allows the doctor to clearly see any problem with the way the heart is formed or the way it's working.\n \nEcho is an important test for both diagnosing a hole in the heart and following the problem over time. Echo can show problems with the heart's structure and how the heart is reacting to the problems. This test will help your child's cardiologist decide whether and when treatment is needed.\n \nEKG (Electrocardiogram)\n \nAn EKG is a simple, painless test that records the heart's electrical activity. The test shows how fast the heart is beating and its rhythm (steady or irregular). It also records the strength and timing of electrical signals as they pass through the heart.\n \nAn EKG can detect whether one of the heart's chambers is enlarged, which can help diagnose a heart problem.\n \nChest X Ray\n \nA chest x ray is a painless test that creates pictures of the structures in the chest, such as the heart, lungs, and blood vessels.\n \nThis test can show whether the heart is enlarged. A chest x ray also can show whether the lungs have extra blood flow or extra fluid, a sign of heart failure.\n \nPulse Oximetry\n \nPulse oximetry shows the level of oxygen in the blood. A small sensor is attached to a finger or ear. The sensor uses light to estimate how much oxygen is in the blood.\n \nCardiac Catheterization\n \nDuring cardiac catheterization (KATH-e-ter-i-ZA-shun), a thin, flexible tube called a catheter is put into a vein in the arm, groin (upper thigh), or neck. The tube is threaded to the heart.\n \nSpecial dye is injected through the catheter into a blood vessel or one of the heart's chambers. The dye allows the doctor to see the flow of blood through the heart and blood vessels on an x-ray image.\n \nThe doctor also can use cardiac catheterization to measure the pressure inside the heart chambers and blood vessels. This can help the doctor figure out whether blood is mixing between the two sides of the heart.\n \nDoctors also use cardiac catheterization to repair some heart defects. For more information, go to \"How Are Holes in the Heart Treated?\"", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by congenital bilateral absence of the vas deferens ?"}, {"role": "assistant", "content": "This condition is responsible for 1 percent to 2 percent of all infertility in men.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Do you have information about Child Dental Health"}, {"role": "assistant", "content": "Summary : Healthy teeth are important to your child's overall health. From the time your child is born, there are things you can do to promote healthy teeth and prevent cavities. For babies, you should clean teeth with a soft, clean cloth or baby's toothbrush. Avoid putting the baby to bed with a bottle and check teeth regularly for spots or stains. For all children, you should - Start using a pea-sized amount of fluoride toothpaste when they are two years old. You might start sooner, if a dentist or doctor suggests it. - Provide healthy foods and limit sweet snacks and drinks - Schedule regular dental check-ups Forming good habits at a young age can help your child have healthy teeth for life. NIH: National Institute of Dental and Craniofacial Research", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Dopamine beta hydroxylase deficiency ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Dopamine beta hydroxylase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Dopamine beta hydroxylase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - High palate - Neonatal hypoglycemia - Nocturia - Orthostatic hypotension - Ptosis - Retrograde ejaculation - Seizures - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Thrombocytopenia with elevated serum IgA and renal disease ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Thrombocytopenia with elevated serum IgA and renal disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Thrombocytopenia with elevated serum IgA and renal disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal bleeding - Glomerulonephritis - Hematuria - Increased IgA level - Thrombocytopenia - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by activated PI3K-delta syndrome ?"}, {"role": "assistant", "content": "The prevalence of activated PI3K-delta syndrome is unknown.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Townes-Brocks syndrome inherited ?"}, {"role": "assistant", "content": "Is Townes-Brocks syndrome genetic? Yes. Townes-Brocks syndrome is inherited in an autosomal dominant fashion, which means that one copy of the altered gene in each cell is sufficient to cause the disorder. In about 50% of cases, an affected person inherits the mutation from an affected parent. The other 50% have the condition as a result of a new (de novo) mutation.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Limited cutaneous systemic sclerosis ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Limited cutaneous systemic sclerosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Limited cutaneous systemic sclerosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Acrocyanosis 90% Autoimmunity 90% Dry skin 90% Hypopigmented skin patches 90% Chondrocalcinosis 50% Feeding difficulties in infancy 50% Mucosal telangiectasiae 50% Nausea and vomiting 50% Skin ulcer 50% Telangiectasia of the skin 50% Camptodactyly of toe 7.5% Pulmonary fibrosis 7.5% Pulmonary hypertension 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Glucose transporter type 1 deficiency syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Glucose transporter type 1 deficiency syndrome? The most common form of glucose transporter type 1 deficiency syndrome (GLUT1 deficiency syndrome), called the classic type, may be characterized by: Recurrent seizures (epilepsy) beginning in the first months of life Microcephaly (unusually small head size) that develops after birth Developmental delay Intellectual disability Speech and language impairment Movement abnormalities (i.e. involuntary eye movements, spasticity, ataxia, dystonia) Behavioral problems Other signs and symptoms may include headaches, confusion, loss of energy and/or myoclonus (muscle twitches). Approximately 10% of affected people have the non-epileptic form of GLUT1 deficiency syndrome. This form is associated with all the typical symptoms of the condition without seizures. The Human Phenotype Ontology provides the following list of signs and symptoms for Glucose transporter type 1 deficiency syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Seizures 75% Autosomal recessive inheritance 5% Abnormality of metabolism/homeostasis - Ataxia - Autosomal dominant inheritance - Babinski sign - Choreoathetosis - Confusion - Delayed speech and language development - Dysarthria - EEG abnormality - Hemiparesis - Hyperreflexia - Hypoglycorrhachia - Infantile onset - Intellectual disability - Myoclonus - Paralysis - Paroxysmal dystonia - Paroxysmal involuntary eye movements - Paroxysmal lethargy - Phenotypic variability - Postnatal microcephaly - Sleep disturbance - Spasticity - Specific learning disability - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Miscarriage ?"}, {"role": "assistant", "content": "A miscarriage is the loss of pregnancy from natural causes before the 20th week of pregnancy. Most miscarriages occur very early in the pregnancy, often before a woman even knows she is pregnant. There are many different causes for a miscarriage. In most cases, there is nothing you can do to prevent a miscarriage. Factors that may contribute to miscarriage include - A genetic problem with the fetus. This is the most common cause in the first trimester. - Problems with the uterus or cervix. These contribute in the second trimester. - Polycystic ovary syndrome Signs of a miscarriage can include vaginal spotting or bleeding, abdominal pain or cramping, and fluid or tissue passing from the vagina. Although vaginal bleeding is a common symptom of miscarriage, many women have spotting early in their pregnancy but do not miscarry. But if you are pregnant and have bleeding or spotting, contact your health care provider immediately. Women who miscarry early in their pregnancy usually do not need any treatment. In some cases, you may need a procedure called a dilatation and curettage (D&C) to remove tissue remaining in the uterus. Counseling may help you cope with your grief. Later, if you do decide to try again, work closely with your health care provider to lower the risks. Many women who have a miscarriage go on to have healthy babies. NIH: National Institute of Child Health and Human Development", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Congenital radio-ulnar synostosis ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Congenital radio-ulnar synostosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital radio-ulnar synostosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Dislocated radial head - Limited elbow extension - Radioulnar synostosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "what research (or clinical trials) is being done for Normal Pressure Hydrocephalus ?"}, {"role": "assistant", "content": "The NINDS conducts and supports research on neurological disorders, including normal pressure hydrocephalus. Research on disorders such as normal pressure hydrocephalus focuses on increasing knowledge and understanding of the disorder, improving diagnostic techniques and neuroimaging, and finding improved treatments and preventions.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) hand-foot-genital syndrome ?"}, {"role": "assistant", "content": "Hand-foot-genital syndrome is a rare condition that affects the development of the hands and feet, the urinary tract, and the reproductive system. People with this condition have abnormally short thumbs and first (big) toes, small fifth fingers that curve inward (clinodactyly), short feet, and fusion or delayed hardening of bones in the wrists and ankles. The other bones in the arms and legs are normal. Abnormalities of the genitals and urinary tract can vary among affected individuals. Many people with hand-foot-genital syndrome have defects in the ureters, which are tubes that carry urine from each kidney to the bladder, or in the urethra, which carries urine from the bladder to the outside of the body. Recurrent urinary tract infections and an inability to control the flow of urine (urinary incontinence) have been reported. About half of males with this disorder have the urethra opening on the underside of the penis (hypospadias). People with hand-foot-genital syndrome are usually able to have children (fertile). In some affected females, problems in the early development of the uterus can later increase the risk of pregnancy loss, premature labor, and stillbirth.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Balance Problems ?"}, {"role": "assistant", "content": "Yes. Many prescription medications, such as those used to lower blood pressure, can make a person feel dizzy. Other medicines might damage the inner ear. These medicines, called ototoxic medicines, can make you feel off balance. Sometimes the damage lasts only as long as you take the drug. Other times it is permanent. Groups of drugs that are more likely to be ototoxic include - antidepressants - anti-seizure drugs (anticonvulsants) - hypertensive (high blood pressure) drugs - sedatives - tranquilizers - anxiolytics (anti-anxiety drugs) - aminoglycosides (a type of antibiotic) - diuretics - vasodilators - certain analgesics (painkillers) - certain chemotherapeutics (anti-cancer drugs). antidepressants anti-seizure drugs (anticonvulsants) hypertensive (high blood pressure) drugs sedatives tranquilizers anxiolytics (anti-anxiety drugs) aminoglycosides (a type of antibiotic) diuretics vasodilators certain analgesics (painkillers) certain chemotherapeutics (anti-cancer drugs).", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to Rett syndrome ?"}, {"role": "assistant", "content": "Classic Rett syndrome and some variant forms of the condition are caused by mutations in the MECP2 gene. This gene provides instructions for making a protein (MeCP2) that is critical for normal brain function. Although the exact function of the MeCP2 protein is unclear, it is likely involved in maintaining connections (synapses) between nerve cells (neurons). It may also be necessary for the normal function of other types of brain cells. The MeCP2 protein is thought to help regulate the activity of genes in the brain. This protein may also control the production of different versions of certain proteins in brain cells. Mutations in the MECP2 gene alter the MeCP2 protein or result in the production of less protein, which appears to disrupt the normal function of neurons and other cells in the brain. Specifically, studies suggest that changes in the MeCP2 protein may reduce the activity of certain neurons and impair their ability to communicate with one another. It is unclear how these changes lead to the specific features of Rett syndrome. Several conditions with signs and symptoms overlapping those of Rett syndrome have been found to result from mutations in other genes. These conditions, including FOXG1 syndrome, were previously thought to be variant forms of Rett syndrome. However, doctors and researchers have identified some important differences between the conditions, so they are now usually considered to be separate disorders.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Bronchitis ?"}, {"role": "assistant", "content": "The main goals of treating acute and chronic bronchitis are to relieve symptoms and make breathing easier.\n \nIf you have acute bronchitis, your doctor may recommend rest, plenty of fluids, and aspirin (for adults) or acetaminophen to treat fever.\n \nAntibiotics usually aren't prescribed for acute bronchitis. This is because they don't work against virusesthe most common cause of acute bronchitis. However, if your doctor thinks you have a bacterial infection, he or she may prescribe antibiotics.\n \nA humidifier or steam can help loosen mucus and relieve wheezing and limited air flow. If your bronchitis causes wheezing, you may need an inhaled medicine to open your airways. You take this medicine using an inhaler. This device allows the medicine to go straight to your lungs.\n \nYour doctor also may prescribe medicines to relieve or reduce your cough and treat your inflamed airways (especially if your cough persists).\n \nIf you have chronic bronchitis and also have been diagnosed with COPD (chronic obstructive pulmonary disease), you may need medicines to open your airways and help clear away mucus. These medicines include bronchodilators (inhaled) and steroids (inhaled or pill form).\n \nIf you have chronic bronchitis, your doctor may prescribe oxygen therapy. This treatment can help you breathe easier, and it provides your body with needed oxygen.\n \nOne of the best ways to treat acute and chronic bronchitis is to remove the source of irritation and damage to your lungs. If you smoke, it's very important to quit.\n \nTalk with your doctor about programs and products that can help you quit smoking. Try to avoid secondhand smoke and other lung irritants, such as dust, fumes, vapors, and air pollution.\n \nFor more information about how to quit smoking, go to the Diseases and Conditions Index Smoking and Your Heart article and the National Heart, Lung, and Blood Institute's \"Your Guide to a Healthy Heart.\" Although these resources focus on heart health, they include general information about how to quit smoking.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Fine-Lubinsky syndrome ?"}, {"role": "assistant", "content": "Fine-Lubinsky syndrome (FLS) is a very rare syndrome that affects various parts of the body. Signs and symptoms can vary and may include brachycephaly or plagiocephaly; structural brain abnormalities; abnormal EEG; intellectual disability; deafness; eye conditions (cataracts or glaucoma); distinctive facial features; and body asymmetry. The underlying cause of FLS remains unknown. Almost all cases have been sporadic (occurring in people with no family history of FLS) with the exception of 2 affected siblings, suggesting it was inherited in an autosomal recessive manner.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Sydenham Chorea ?"}, {"role": "assistant", "content": "Sydenham chorea (SD) is a neurological disorder of childhood resulting from infection via Group A beta-hemolytic streptococcus (GABHS), the bacterium that causes rheumatic fever. SD is characterized by rapid, irregular, and aimless involuntary movements of the arms and legs, trunk, and facial muscles. It affects girls more often than boys and typically occurs between 5 and 15 years of age. Some children will have a sore throat several weeks before the symptoms begin, but the disorder can also strike up to 6 months after the fever or infection has cleared. Symptoms can appear gradually or all at once, and also may include uncoordinated movements, muscular weakness, stumbling and falling, slurred speech, difficulty concentrating and writing, and emotional instability. The symptoms of SD can vary from a halting gait and slight grimacing to involuntary movements that are frequent and severe enough to be incapacitating. The random, writhing movements of chorea are caused by an auto-immune reaction to the bacterium that interferes with the normal function of a part of the brain (the basal ganglia) that controls motor movements. Due to better sanitary conditions and the use of antibiotics to treat streptococcal infections, rheumatic fever, and consequently SD, are rare in North America and Europe. The disease can still be found in developing nations.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Hypolipoproteinemia ?"}, {"role": "assistant", "content": "Are there other symptoms associated with hypolipoproteinemia? Some reports suggest that hypolipoproteinemia (low cholesterol levels) in general may increase the risk for development of fatty livers.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Von Hippel-Lindau disease ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Von Hippel-Lindau disease? Symptoms of Von Hippel-Lindau (VHL) disease vary among patients and depend on the size and location of the tumors. Hemangioblastomas that develop in the brain and spinal cord can cause headaches, vomiting, weakness, and a loss of muscle coordination (ataxia). Hemangioblastomas can also occur in the light-sensitive tissue that lines the back of the eye (the retina). These tumors, which are also called retinal angiomas, may cause vision loss. Pheochromocytomas affect the adrenal glands, which are small hormone-producing glands located on top of each kidney. These tumors often cause no symptoms, but in some cases they can produce an excess of hormones that cause dangerously high blood pressure. About 10 percent of people with VHL disease develop endolymphatic sac tumors, which are noncancerous tumors in the inner ear. These growths can cause hearing loss in one or both ears, as well as ringing in the ears (tinnitus) and problems with balance. Individuals with VHL disease are also at a higher risk than normal for certain types of cancer, especially kidney cancer. Renal cell carcinoma occurs in about 70% of individuals with VHL disease by age 60 and is the leading cause of mortality. The Human Phenotype Ontology provides the following list of signs and symptoms for Von Hippel-Lindau disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the cerebral vasculature 90% Abnormality of the retinal vasculature 90% Aplasia/Hypoplasia of the cerebellum 90% Arteriovenous malformation 90% Neurological speech impairment 90% Nystagmus 90% Pancreatic cysts 90% Renal neoplasm 90% Sensorineural hearing impairment 90% Visceral angiomatosis 90% Gait disturbance 50% Hemiplegia/hemiparesis 50% Hydrocephalus 50% Incoordination 50% Migraine 50% Multicystic kidney dysplasia 50% Nausea and vomiting 50% Telangiectasia of the skin 50% Visual impairment 50% Abnormality of the lymphatic system 7.5% Abnormality of the macula 7.5% Arrhythmia 7.5% Cataract 7.5% Glaucoma 7.5% Hyperhidrosis 7.5% Hypertensive crisis 7.5% Increased intracranial pressure 7.5% Neoplasm of the middle ear 7.5% Neuroendocrine neoplasm 7.5% Polycystic kidney dysplasia 7.5% Retinal detachment 7.5% Abnormality of the liver - Autosomal dominant inheritance - Cerebellar hemangioblastoma - Epididymal cyst - Hypertension - Multiple renal cysts - Neoplasm of the pancreas - Papillary cystadenoma of the epididymis - Paraganglioma - Phenotypic variability - Pheochromocytoma - Polycythemia - Pulmonary capillary hemangiomatosis - Renal cell carcinoma - Retinal capillary hemangioma - Spinal hemangioblastoma - Tinnitus - Vertigo - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Tietz syndrome ?"}, {"role": "assistant", "content": "Tietz syndrome is a rare condition that affects the development of melanocytes, the cells in our body that produce and contain melanin (the pigment that gives color to skin, hair, and eyes). Signs and symptoms of this condition are present from birth and usually include sensorineural hearing loss, fair skin, and light-colored hair. It is caused by changes (mutations) in the MITF gene and inherited in an autosomal dominant manner. The goal of treatment is to improve hearing; cochlear implantation may be considered.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Stratton-Garcia-Young syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Stratton-Garcia-Young syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Stratton-Garcia-Young syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the mitral valve 90% Abnormality of the palate 90% Abnormality of the shoulder 90% Brachydactyly syndrome 90% Cognitive impairment 90% Convex nasal ridge 90% Hernia of the abdominal wall 90% Long thorax 90% Micromelia 90% Reduced number of teeth 90% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Multiple endocrine neoplasia type 1 ?"}, {"role": "assistant", "content": "Multiple endocrine neoplasia, type 1 (MEN1) is an inherited condition that causes tumors of the endocrine system (the body's network of hormone-producing glands). People affected by MEN1 typically develop tumors of the parathyroid gland, the pituitary gland, and the pancreas, although other glands may be involved as well. These tumors are often \"functional\" and secrete excess hormones, which can cause a variety of health problems. The most common signs and symptoms of MEN1 are caused by hyperparathyroidism (overactive parathyroid gland) and may include kidney stones; thinning of bones; nausea and vomiting; high blood pressure (hypertension); weakness; and fatigue. MEN1 is caused by changes (mutations) in the MEN1 gene and is inherited in an autosomal dominant manner. Management for MEN1 usually includes regular screening to allow for early diagnosis and treatment of endocrine tumors.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Polycystic Kidney Disease ?"}, {"role": "assistant", "content": "An early sign of autosomal recessive PKD is an enlarged kidney, seen in a fetus or an infant using ultrasound. Kidney function is crucial for early physical development, so children with autosomal recessive PKD and decreased kidney function are usually smaller-than-average size, a condition called growth failure.\n \nSome people with autosomal recessive PKD do not develop signs or symptoms until later in childhood or even adulthood.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Bile Duct Cancer ?"}, {"role": "assistant", "content": "Your liver makes a digestive juice called bile. Your gallbladder stores it between meals. When you eat, your gallbladder pushes the bile into tubes called bile ducts. They carry the bile to your small intestine. The bile helps break down fat. It also helps the liver get rid of toxins and wastes. Bile duct cancer is rare. It can happen in the parts of the bile ducts that are outside or inside the liver. Cancer of the bile duct outside of the liver is much more common. Risk factors include having inflammation of the bile duct, ulcerative colitis, and some liver diseases. Symptoms can include - Jaundice - Itchy skin - Fever - Abdominal pain Tests to diagnose bile duct cancer may include a physical exam, imaging tests of the liver and bile ducts, blood tests, and a biopsy. Treatments include surgery, radiation therapy, and chemotherapy. NIH: National Cancer Institute", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Lactose Intolerance ?"}, {"role": "assistant", "content": "Lactose is a sugar found in milk and milk products. The small intestinethe organ where most food digestion and nutrient absorption take placeproduces an enzyme called lactase. Lactase breaks down lactose into two simpler forms of sugar: glucose and galactose. The body then absorbs these simpler sugars into the bloodstream.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Spasticity ?"}, {"role": "assistant", "content": "Spasticity is a condition in which there is an abnormal increase in muscle tone or stiffness of muscle, which might interfere with movement, speech, or be associated with discomfort or pain. Spasticity is usually caused by damage to nerve pathways within the brain or spinal cord that control muscle movement. It may occur in association with spinal cord injury, multiple sclerosis, cerebral palsy, stroke, brain or head trauma, amyotrophic lateral sclerosis, hereditary spastic paraplegias, and metabolic diseases such as adrenoleukodystrophy, phenylketonuria, and Krabbe disease. Symptoms may include hypertonicity (increased muscle tone), clonus (a series of rapid muscle contractions), exaggerated deep tendon reflexes, muscle spasms, scissoring (involuntary crossing of the legs), and fixed joints (contractures). The degree of spasticity varies from mild muscle stiffness to severe, painful, and uncontrollable muscle spasms. Spasticity can interfere with rehabilitation in patients with certain disorders, and often interferes with daily activities.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Pelizaeus-Merzbacher Disease ?"}, {"role": "assistant", "content": "Pelizaeus-Merzbacher disease (PMD) is a rare, progressive, degenerative central nervous system disorder in which coordination, motor abilities, and intellectual function deteriorate. The disease is one of a group of gene-linked disorders known as the leukodystrophies, which affect growth of the myelin sheath -- the fatty covering that wraps around and protects nerve fibers in the brain. The disease is caused by a mutation in the gene that controls the production of a myelin protein called proteolipid protein-1 (PLP1). PMD is inherited as an X-linked recessive trait; the affected individuals are male and the mothers are carriers of the PLP1 mutation. Severity and onset of the disease ranges widely, depending on the type of PLP1 mutation. PMD is one of a spectrum of diseases associated with PLP1, which also includes Spastic Paraplegia Type 2 (SPG2). The PLP1-related disorders span a continuum of neurologic symptoms that range from severe central nervous system involvement (PMD) to progressive weakness and stiffness of the legs (SPG2). There are four general classifications within this spectrum of diseases. In order of severity, they are:\n \n- Connatal PMD, which is the most severe type and involves delayed mental and physical development and severe neurological symptoms; - Classic PMD, in which the early symptoms include muscle weakness, involuntary movements of the eyes (nystagmus), and delays in motor development within the first year of life; - Complicated SPG2, which features motor development issues and brain involvement, and, - Pure SPG2, which includes cases of PMD that do not have neurologic complications.\n \nNoticeable changes in the extent of myelination can be detected by MRI analyses of the brain. Additional symptoms of PMD may include slow growth, tremor, failure to develop normal control of head movement, and deteriorating speech and cognitive function.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Where to find support for people with Alcohol Use and Older Adults ?"}, {"role": "assistant", "content": "Many people with alcohol problems find it helpful to talk with others who have faced similar problems. Mutual help groups, such as Alcoholics Anonymous (AA) 12-step programs, help people recover from alcohol use disorder. AA meetings are open to anyone who wants to stop drinking. Attending mutual-help groups is beneficial for many people who want to stop drinking. Many people continue to go to support/mutual help groups even after medical treatment for their alcohol problems ends. There are other mutual help groups available such as Smart Recovery, Life Ring, and Moderation Management. Learn more about available types of treatment for alcohol problems.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Osteomesopyknosis inherited ?"}, {"role": "assistant", "content": "How is osteomesopyknosis inherited? Osteomesopyknosis is inherited in an autosomal dominant manner. This means that having only one mutated copy of the responsible gene (which has not yet been identified) is enough to cause signs or symptoms of the disorder. When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) risk to be affected. There have been reported cases where both parents of an affected person did not appear to have the condition. The chance of having signs and symptoms when the responsible mutation is present (penetrance), and potential nature of signs and symptoms (expressivity), is not clear.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Acrodermatitis enteropathica ?"}, {"role": "assistant", "content": "Acrodermatitis enteropathica (AE) is a disorder of zinc metabolism that can either be inherited or acquired. Both forms lead to the inability to absorb zinc from the intestine. The lack of zinc can cause skin inflammation with a rash (pustular dermatitis) around the mouth and/or anus; diarrhea; and abnormal nails (nail dystrophy). Irritability and emotional disturbances can also occur. The inherited form is caused by mutations in the SLC39A4 gene and inherited in an autosomal recessive pattern. The acquired form can result from diets lacking the appropriate amount of zinc. Supplemental zinc usually eliminates the symptoms of acrodermatitis enteropathica.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Itching ?"}, {"role": "assistant", "content": "Itching is skin tingling or irritation that makes you want to scratch the itchy area. It's a symptom of many health conditions. Common causes are - Allergic reactions - Eczema - Dry skin - Insect bites and stings - Irritating chemicals - Parasites such as pinworms, scabies, head and body lice - Pregnancy - Rashes - Reactions to medicines To soothe itchy skin, you can try cold compresses, lotions and lukewarm baths. Avoid scratching, wearing irritating fabrics and high heat and humidity. Most itching is not serious. However, if you itch all over, have hives that keep coming back or have itching without an apparent cause, you might require medical attention.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) What I need to know about Kidney Failure and How Its Treated ?"}, {"role": "assistant", "content": "Kidney failure means your kidneys no longer filter your blood well enough to keep you healthy. Failing kidneys do a poor job of removing wastes and extra fluid from your blood. Wastes and extra fluid begin to build up. The buildup of wastes can make you sick. You may have the following symptoms:\n \n- ankle, face, or belly swelling - stomach sickness - throwing up - loss of appetite - loss of sense of taste - feeling tired - weakness - confusion - headaches", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by biotin-thiamine-responsive basal ganglia disease ?"}, {"role": "assistant", "content": "Biotin-thiamine-responsive basal ganglia disease is a rare disorder; its prevalence is unknown. Approximately 48 cases have been reported in the medical literature; most of these are individuals from Arab populations.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Fukuyama congenital muscular dystrophy inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of MORM syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of MORM syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for MORM syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Cataract - Childhood-onset truncal obesity - Delayed speech and language development - Intellectual disability, moderate - Micropenis - Retinal dystrophy - Truncal obesity - Visual impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Childhood Ependymoma ?"}, {"role": "assistant", "content": "The signs and symptoms of childhood ependymoma are not the same in every child. Signs and symptoms depend on the following: - The child's age. - Where the tumor has formed. Signs and symptoms may be caused by childhood ependymoma or by other conditions. Check with your child's doctor if your child has any of the following: - Frequent headaches. - Seizures. - Nausea and vomiting. - Pain or stiffness in the neck. - Loss of balance or trouble walking. - Weakness in the legs. - Blurry vision. - Back pain. - A change in bowel function. - Trouble urinating. - Confusion or irritability.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Leigh syndrome ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of Leigh syndrome: - Gene Review: Gene Review: Mitochondrial DNA-Associated Leigh Syndrome and NARP - Gene Review: Gene Review: Nuclear Gene-Encoded Leigh Syndrome Overview - Genetic Testing Registry: Leigh Syndrome (mtDNA mutation) - Genetic Testing Registry: Leigh Syndrome (nuclear DNA mutation) - Genetic Testing Registry: Leigh syndrome - Genetic Testing Registry: Leigh syndrome, French Canadian type These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by acral peeling skin syndrome ?"}, {"role": "assistant", "content": "Acral peeling skin syndrome is a rare condition, with several dozen cases reported in the medical literature. However, because its signs and symptoms tend to be mild and similar to those of other skin disorders, the condition is likely underdiagnosed.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Hemolytic Uremic Syndrome in Children ?"}, {"role": "assistant", "content": "The kidneys are two bean-shaped organs, each about the size of a fist. They are located just below the rib cage, one on each side of the spine. Every day, the two kidneys filter about 120 to 150 quarts of blood to produce about 1 to 2 quarts of urine, composed of wastes and extra fluid. Children produce less urine than adults and the amount produced depends on their age. The urine flows from the kidneys to the bladder through tubes called ureters. The bladder stores urine. When the bladder empties, urine flows out of the body through a tube called the urethra, located at the bottom of the bladder.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is spinocerebellar ataxia type 2 inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. An affected person usually inherits the altered gene from one affected parent. However, some people with SCA2 do not have a parent with the disorder. Individuals who have an increase in the number of CAG repeats in the ATXN2 gene, but do not develop SCA2, are at risk of having children who will develop the disorder. As the altered ATXN2 gene is passed down from one generation to the next, the length of the CAG trinucleotide repeat often increases. A larger number of repeats is usually associated with an earlier onset of signs and symptoms. This phenomenon is called anticipation. Anticipation tends to be more prominent when the ATXN2 gene is inherited from a person's father (paternal inheritance) than when it is inherited from a person's mother (maternal inheritance).", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for polycythemia vera ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of polycythemia vera: - Genetic Testing Registry: Polycythemia vera - MPN Research Foundation: Diagnosis - MedlinePlus Encyclopedia: Polycythemia Vera These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is X-linked infantile nystagmus inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an X-linked pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes in each cell. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two copies of the X chromosome), one altered copy of the gene in each cell can cause the condition, although affected females may experience less severe symptoms than affected males. Approximately half of the females with only one altered copy of the FRMD7 gene in each cell have no symptoms of this condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of COPD ?"}, {"role": "assistant", "content": "The most common symptoms of COPD are a cough that does not go away and coughing up a lot of sputum (mucus). These symptoms may occur years before lung damage has reduced the flow of air in and out of the lungs. Other symptoms of COPD include shortness of breath, especially with exercise; wheezing (a whistling sound when you breathe); and tightness in the chest.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Do you have information about Iron"}, {"role": "assistant", "content": "Summary : Iron is a mineral that our bodies need for many functions. For example, iron is part of hemoglobin, a protein which carries oxygen from our lungs throughout our bodies. It helps our muscles store and use oxygen. Iron is also part of many other proteins and enzymes. Your body needs the right amount of iron. If you have too little iron, you may develop iron deficiency anemia. Causes of low iron levels include blood loss, poor diet, or an inability to absorb enough iron from foods. People at higher risk of having too little iron are young children and women who are pregnant or have periods. Too much iron can damage your body. Taking too many iron supplements can cause iron poisoning. Some people have an inherited disease called hemochromatosis. It causes too much iron to build up in the body. Centers for Disease Control and Prevention", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to prevent Problems with Taste ?"}, {"role": "assistant", "content": "Problems with taste that occur with aging cannot be prevented. However you may be able to protect yourself against other causes of taste loss with these steps. - Prevent upper respiratory infections such as colds and the flu. Wash your hands frequently, especially during the winter months, and get a flu shot every year. - Avoid Head Injuries. Always wear seatbelts when riding in a car and a helmet when bicycling. - Avoid Exposure to Toxic Chemicals. Avoid contact with chemicals that might cause smell problems such as paints, insecticides, and solvents, or wear a respirator if you cannot avoid contact. - Review Your Medications. If you are taking antibiotics or antihistamines or other medications and notice a change in your sense of taste, talk to your doctor. You may be able to adjust or change your medicine to one that will not cause a problem with taste. Do not stop taking your medications unless directed by your doctor. - Dont Smoke. It can impair the sense of taste. For free help to quit smoking, visit Smokefree.gov Prevent upper respiratory infections such as colds and the flu. Wash your hands frequently, especially during the winter months, and get a flu shot every year. Avoid Head Injuries. Always wear seatbelts when riding in a car and a helmet when bicycling. Avoid Exposure to Toxic Chemicals. Avoid contact with chemicals that might cause smell problems such as paints, insecticides, and solvents, or wear a respirator if you cannot avoid contact. Review Your Medications. If you are taking antibiotics or antihistamines or other medications and notice a change in your sense of taste, talk to your doctor. You may be able to adjust or change your medicine to one that will not cause a problem with taste. Do not stop taking your medications unless directed by your doctor. Dont Smoke. It can impair the sense of taste. For free help to quit smoking, visit Smokefree.gov", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Respiratory Distress Syndrome ?"}, {"role": "assistant", "content": "Signs and symptoms of respiratory distress syndrome (RDS) usually occur at birth or within the first few hours that follow. They include:\n \nRapid, shallow breathing\n \nSharp pulling in of the chest below and between the ribs with each breath\n \nGrunting sounds\n \nFlaring of the nostrils\n \nThe infant also may have pauses in breathing that last for a few seconds. This condition is called apnea (AP-ne-ah).\n \nRespiratory Distress Syndrome Complications\n \nDepending on the severity of an infant's RDS, he or she may develop other medical problems.\n \nLung Complications\n \nLung complications may include a collapsed lung (atelectasis), leakage of air from the lung into the chest cavity (pneumothorax), and bleeding in the lung (hemorrhage).\n \nSome of the life-saving treatments used for RDS may cause bronchopulmonary dysplasia, another breathing disorder.\n \nBlood and Blood Vessel Complications\n \nInfants who have RDS may develop sepsis, an infection of the bloodstream. This infection can be life threatening.\n \nLack of oxygen may prevent a fetal blood vessel called the ductus arteriosus from closing after birth as it should. This condition is called patent ductus arteriosus, or PDA.\n \nThe ductus arteriosus connects a lung artery to a heart artery. If it remains open, it can strain the heart and increase blood pressure in the lung arteries.\n \nOther Complications\n \nComplications of RDS also may include blindness and other eye problems and a bowel disease called necrotizing enterocolitis (EN-ter-o-ko-LI-tis). Infants who have severe RDS can develop kidney failure.\n \nSome infants who have RDS develop bleeding in the brain. This bleeding can delay mental development. It also can cause mental retardation or cerebral palsy.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to prevent Asthma ?"}, {"role": "assistant", "content": "You cant prevent asthma. However, you can take steps to control the disease and prevent its symptoms. For example:\n \nLearn about your asthma and ways to control it.\n \nFollow your written asthma action plan. (For a sample plan, go to the National Heart, Lung, and Blood Institute's \"Asthma Action Plan.\")\n \nUse medicines as your doctor prescribes.\n \nIdentify and try to avoid things that make your asthma worse (asthma triggers). However, one trigger you should not avoid is physical activity. Physical activity is an important part of a healthy lifestyle. Talk with your doctor about medicines that can help you stay active.\n \nKeep track of your asthma symptoms and level of control.\n \nGet regular checkups for your asthma.\n \nFor more details about how to prevent asthma symptoms and attacks, go to \"How Is Asthma Treated and Controlled?\"", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Do you have information about Motor Vehicle Safety"}, {"role": "assistant", "content": "Summary : Every year thousands of people in the U.S. die from motor vehicle crashes. Trying to prevent these crashes is one part of motor vehicle safety. Here are some things you can do to be safer on the road: - Make sure your vehicle is safe and in working order - Use car seats for children - Wear your seat belt - Don't speed or drive aggressively - Don't drive impaired Safety also involves being aware of others. Share the road with bicycles and motorcycles, and watch for pedestrians.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is anencephaly inherited ?"}, {"role": "assistant", "content": "Most cases of anencephaly are sporadic, which means they occur in people with no history of the disorder in their family. A small percentage of cases have been reported to run in families; however, the condition does not have a clear pattern of inheritance. For parents who have had a child with anencephaly, the risk of having another affected child is increased compared with the risk in the general population.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Parathyroid Cancer ?"}, {"role": "assistant", "content": "Key Points\n - Parathyroid cancer is a rare disease in which malignant (cancer) cells form in the tissues of a parathyroid gland. - Having certain inherited disorders can increase the risk of developing parathyroid cancer. - Signs and symptoms of parathyroid cancer include weakness, feeling tired, and a lump in the neck. - Tests that examine the neck and blood are used to detect (find) and diagnose parathyroid cancer. - Certain factors affect prognosis (chance of recovery) and treatment options.\n \n \n Parathyroid cancer is a rare disease in which malignant (cancer) cells form in the tissues of a parathyroid gland.\n The parathyroid glands are four pea-sized organs found in the neck near the thyroid gland. The parathyroid glands make parathyroid hormone (PTH or parathormone). PTH helps the body use and store calcium to keep the calcium in the blood at normal levels. A parathyroid gland may become overactive and make too much PTH, a condition called hyperparathyroidism. Hyperparathyroidism can occur when a benign tumor (noncancer), called an adenoma, forms on one of the parathyroid glands, and causes it to grow and become overactive. Sometimes hyperparathyroidism can be caused by parathyroid cancer, but this is very rare. The extra PTH causes: - The calcium stored in the bones to move into the blood. - The intestines to absorb more calcium from the food we eat. This condition is called hypercalcemia (too much calcium in the blood). The hypercalcemia caused by hyperparathyroidism is more serious and life-threatening than parathyroid cancer itself and treating hypercalcemia is as important as treating the cancer.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to 22q11.2 deletion syndrome ?"}, {"role": "assistant", "content": "Most people with 22q11.2 deletion syndrome are missing a sequence of about 3 million DNA building blocks (base pairs) on one copy of chromosome 22 in each cell. This region contains 30 to 40 genes, many of which have not been well characterized. A small percentage of affected individuals have shorter deletions in the same region. This condition is described as a contiguous gene deletion syndrome because it results from the loss of many genes that are close together. Researchers are working to identify all of the genes that contribute to the features of 22q11.2 deletion syndrome. They have determined that the loss of a particular gene on chromosome 22, TBX1, is probably responsible for many of the syndrome's characteristic signs (such as heart defects, a cleft palate, distinctive facial features, hearing loss, and low calcium levels). Some studies suggest that a deletion of this gene may contribute to behavioral problems as well. The loss of another gene, COMT, in the same region of chromosome 22 may also help explain the increased risk of behavioral problems and mental illness. The loss of additional genes in the deleted region likely contributes to the varied features of 22q11.2 deletion syndrome.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for von Hippel-Lindau syndrome ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of von Hippel-Lindau syndrome: - Brigham and Women's Hospital - Gene Review: Gene Review: Von Hippel-Lindau Syndrome - Genetic Testing Registry: Von Hippel-Lindau syndrome - Genomics Education Programme (UK) - MD Anderson Cancer Center - MedlinePlus Encyclopedia: Pheochromocytoma - MedlinePlus Encyclopedia: Renal Cell Carcinoma - National Cancer Institute: Genetic Testing for Hereditary Cancer Syndromes These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Cephalic Disorders ?"}, {"role": "assistant", "content": "Cephalic disorders are congenital conditions that stem from damage to or abnormal development of the budding nervous system. Most cephalic disorders are caused by a disturbance that occurs very early in the development of the fetal nervous system. Damage to the developing nervous system is a major cause of chronic, disabling disorders, and sometimes death in infants, children, and even adults. Cephalic disorders may be influenced by hereditary or genetic conditions or by environmental exposures during pregnancy (e.g., medication taken by the mother, maternal infection, exposure to radiation). Some cephalic disorders occur when the cranial sutures (the fibrous joints that connect the bones of the skull) join prematurely. Understanding the normal development of the human nervous system may lead to a better understanding of cephalic disorders.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Wolff-Parkinson-White syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Wolff-Parkinson-White syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Wolff-Parkinson-White syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Arrhythmia 90% Cardiomyopathy - Palpitations - Paroxysmal atrial fibrillation - Paroxysmal supraventricular tachycardia - Prolonged QRS complex - Shortened PR interval - Stroke - Sudden cardiac death - Ventricular preexcitation with multiple accessory pathways - Wolff-Parkinson-White syndrome - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by inherited thyroxine-binding globulin deficiency ?"}, {"role": "assistant", "content": "The complete form of inherited thyroxine-binding globulin deficiency, TBG-CD, affects about 1 in 15,000 newborns worldwide. The partial form, TBG-PD, affects about 1 in 4,000 newborns. These conditions appear to be more common in the Australian Aborigine population and in the Bedouin population of southern Israel.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "what are public health agencies doing to prevent or control yersiniosis for Yersinia ?"}, {"role": "assistant", "content": "The Centers for Disease Control and Prevention (CDC) monitors the frequency of Y. enterocolitica infections through the foodborne disease active surveillance network (FoodNet). In addition, CDC conducts investigations of outbreaks of yersiniosis to control them and to learn more about how to prevent these infections. CDC has collaborated in an educational campaign to increase public awareness about prevention of Y. enterocolitica infections. The U.S. Food and Drug Administration inspects imported foods and milk pasteurization plants and promotes better food preparation techniques in restaurants and food processing plants. The U.S. Department of Agriculture monitors the health of food animals and is responsible for the quality of slaughtered and processed meat. The U.S. Environmental Protection Agency regulates and monitors the safety of our drinking water supplies.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for vitamin D-dependent rickets ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of vitamin D-dependent rickets: - Genetic Testing Registry: Vitamin D-dependent rickets, type 1 - Genetic Testing Registry: Vitamin D-dependent rickets, type 2 - Genetic Testing Registry: Vitamin d-dependent rickets, type 2b, with normal vitamin d receptor These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Seow Najjar syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Seow Najjar syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Seow Najjar syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aqueductal stenosis - Dental crowding - Headache - Hypoplasia of dental enamel - Shovel-shaped maxillary central incisors - Sporadic - Subcapsular cataract - Ventriculomegaly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Urinary Retention ?"}, {"role": "assistant", "content": "Urinary retention can result from\n \n- obstruction of the urethra - nerve problems - medications - weakened bladder muscles\n \nObstruction of the Urethra\n \nObstruction of the urethra causes urinary retention by blocking the normal urine flow out of the body. Conditions such as benign prostatic hyperplasiaalso called BPHurethral stricture, urinary tract stones, cystocele, rectocele, constipation, and certain tumors and cancers can cause an obstruction.\n \nBenign prostatic hyperplasia. For men in their 50s and 60s, urinary retention is often caused by prostate enlargement due to benign prostatic hyperplasia. Benign prostatic hyperplasia is a medical condition in which the prostate gland is enlarged and not cancerous. The prostate is a walnut-shaped gland that is part of the male reproductive system. The gland surrounds the urethra at the neck of the bladder. The bladder neck is the area where the urethra joins the bladder. The prostate goes through two main periods of growth. The first occurs early in puberty, when the prostate doubles in size. The second phase of growth begins around age 25 and continues during most of a mans life. Benign prostatic hyperplasia often occurs with the second phase of growth.\n \nAs the prostate enlarges, the gland presses against and pinches the urethra. The bladder wall becomes thicker. Eventually, the bladder may weaken and lose the ability to empty completely, leaving some urine in the bladder.\n \nMore information is provided in the NIDDK health topic, Prostate Enlargement: Benign Prostatic Hyperplasia.\n \nUrethral stricture. A urethral stricture is a narrowing or closure of the urethra. Causes of urethral stricture include inflammation and scar tissue from surgery, disease, recurring UTIs, or injury. In men, a urethral stricture may result from prostatitis, scarring after an injury to the penis or perineum, or surgery for benign prostatic hyperplasia and prostate cancer. Prostatitis is a frequently painful condition that involves inflammation of the prostate and sometimes the areas around the prostate. The perineum is the area between the anus and the sex organs. Since men have a longer urethra than women, urethral stricture is more common in men than women.1\n \nMore information is provided in the NIDDK health topic, Prostatitis: Inflammation of the Prostate.\n \nSurgery to correct pelvic organ prolapse, such as cystocele and rectocele, and urinary incontinence can also cause urethral stricture. The urethral stricture often gets better a few weeks after surgery.\n \nUrethral stricture and acute or chronic urinary retention may occur when the muscles surrounding the urethra do not relax. This condition happens mostly in women.\n \nUrinary tract stones. Urinary tract stones develop from crystals that form in the urine and build up on the inner surfaces of the kidneys, ureters, or bladder. The stones formed or lodged in the bladder may block the opening to the urethra.\n \nCystocele. A cystocele is a bulging of the bladder into the vagina. A cystocele occurs when the muscles and supportive tissues between a womans bladder and vagina weaken and stretch, letting the bladder sag from its normal position and bulge into the vagina. The abnormal position of the bladder may cause it to press against and pinch the urethra.\n \nMore information is provided in the NIDDK health topic, Cystocele.\n \nRectocele. A rectocele is a bulging of the rectum into the vagina. A rectocele occurs when the muscles and supportive tissues between a womans rectum and vagina weaken and stretch, letting the rectum sag from its normal position and bulge into the vagina. The abnormal position of the rectum may cause it to press against and pinch the urethra.\n \nConstipation. Constipation is a condition in which a person has fewer than three bowel movements a week or has bowel movements with stools that are hard, dry, and small, making them painful or difficult to pass. A person with constipation may feel bloated or have pain in the abdomen the area between the chest and hips. Some people with constipation often have to strain to have a bowel movement. Hard stools in the rectum may push against the bladder and urethra, causing the urethra to be pinched, especially if a rectocele is present.\n \nMore information is provided in the NIDDK health topic, Constipation.\n \nTumors and cancers. Tumors and cancerous tissues in the bladder or urethra can gradually expand and obstruct urine flow by pressing against and pinching the urethra or by blocking the bladder outlet. Tumors may be cancerous or noncancerous.\n \nNerve Problems\n \nUrinary retention can result from problems with the nerves that control the bladder and sphincters. Many events or conditions can interfere with nerve signals between the brain and the bladder and sphincters. If the nerves are damaged, the brain may not get the signal that the bladder is full. Even when a person has a full bladder, the bladder muscles that squeeze urine out may not get the signal to push, or the sphincters may not get the signal to relax. People of all ages can have nerve problems that interfere with bladder function. Some of the most common causes of nerve problems include\n \n- vaginal childbirth - brain or spinal cord infections or injuries - diabetes - stroke - multiple sclerosis - pelvic injury or trauma - heavy metal poisoning\n \nIn addition, some children are born with defects that affect the coordination of nerve signals among the bladder, spinal cord, and brain. Spina bifida and other birth defects that affect the spinal cord can lead to urinary retention in newborns.\n \nMore information is provided in the NIDDK health topics, Nerve Disease and Bladder Control and Urine Blockage in Newborns.\n \nMany patients have urinary retention right after surgery. During surgery, anesthesia is often used to block pain signals in the nerves, and fluid is given intravenously to compensate for possible blood loss. The combination of anesthesia and intravenous (IV) fluid may result in a full bladder with impaired nerve function, causing urinary retention. Normal bladder nerve function usually returns once anesthesia wears off. The patient will then be able to empty the bladder completely.\n \nMedications\n \nVarious classes of medications can cause urinary retention by interfering with nerve signals to the bladder and prostate. These medications include\n \n- antihistamines to treat allergies - cetirizine (Zyrtec) - chlorpheniramine (Chlor-Trimeton) - diphenhydramine (Benadryl) - fexofenadine (Allegra) - anticholinergics/antispasmodics to treat stomach cramps, muscle spasms, and urinary incontinence - hyoscyamine (Levbid) - oxybutynin (Ditropan) - propantheline (Pro-Banthine) - tolterodine (Detrol) - tricyclic antidepressants to treat anxiety and depression - amitriptyline (Elavil) - doxepin (Adapin) - imipramine (Tofranil) - nortriptyline (Pamelor)\n \nOther medications associated with urinary retention include\n \n- decongestants - ephedrine - phenylephrine - pseudoephedrine - nifedipine (Procardia), a medication to treat high blood pressure and chest pain - carbamazepine (Tegretol), a medication to control seizures in people with epilepsy - cyclobenzaprine (Flexeril), a muscle relaxant medication - diazepam (Valium), a medication used to relieve anxiety, muscle spasms, and seizures - nonsteroidal anti-inflammatory drugs - amphetamines - opioid analgesics\n \nOver-the-counter cold and allergy medications that contain decongestants, such as pseudoephedrine, and antihistamines, such as diphenhydramine, can increase symptoms of urinary retention in men with prostate enlargement.\n \nWeakened Bladder Muscles\n \nAging is a common cause of weakened bladder muscles. Weakened bladder muscles may not contract strongly enough or long enough to empty the bladder completely, resulting in urinary retention.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) lysinuric protein intolerance ?"}, {"role": "assistant", "content": "Lysinuric protein intolerance is a disorder caused by the body's inability to digest and use certain protein building blocks (amino acids), namely lysine, arginine, and ornithine. Because the body cannot effectively break down these amino acids, which are found in many protein-rich foods, nausea and vomiting are typically experienced after ingesting protein. People with lysinuric protein intolerance have features associated with protein intolerance, including an enlarged liver and spleen (hepatosplenomegaly), short stature, muscle weakness, impaired immune function, and progressively brittle bones that are prone to fracture (osteoporosis). A lung disorder called pulmonary alveolar proteinosis may also develop. This disorder is characterized by protein deposits in the lungs, which interfere with lung function and can be life-threatening. An accumulation of amino acids in the kidneys can cause end-stage renal disease (ESRD) in which the kidneys become unable to filter fluids and waste products from the body effectively. A lack of certain amino acids can cause elevated levels of ammonia in the blood. If ammonia levels are too high for too long, they can cause coma and intellectual disability. The signs and symptoms of lysinuric protein intolerance typically appear after infants are weaned and receive greater amounts of protein from solid foods.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Osteoporosis ?"}, {"role": "assistant", "content": "Who Should Be Tested? The United States Preventive Service Task Force recommends that women aged 65 and older be screened (tested) for osteoporosis, as well as women aged 60 and older who are at increased risk for an osteoporosis-related fracture. However, the decision of whether or not to have a bone density test is best made between a patient and his or her physician. Medicare will usually cover the cost of a bone density test, and a follow up test every 2 years, for female beneficiaries. It also will cover screening and follow up of any male Medicare recipients who have significant risk factors for osteoporosis. When To Talk With a Doctor Consider talking to your doctor about being evaluated for osteoporosis if - you are a man or woman over age 50 or a postmenopausal woman and you break a bone - you are a woman age 65 or older - you are a woman younger than 65 and at high risk for fractures - you have lost height, developed a stooped or hunched posture, or experienced sudden back pain with no apparent cause - you have been taking glucocorticoid medications such as prednisone, cortisone, or dexamethasone for 2 months or longer or are taking other medications known to cause bone loss - you have a chronic illness or are taking a medication that is known to cause bone loss - you have anorexia nervosa or a history of this eating disorder. - you are a premenopausal woman, not pregnant, and your menstrual periods have stopped, are irregular, or never started when you reached puberty. you are a man or woman over age 50 or a postmenopausal woman and you break a bone you are a woman age 65 or older you are a woman younger than 65 and at high risk for fractures you have lost height, developed a stooped or hunched posture, or experienced sudden back pain with no apparent cause you have been taking glucocorticoid medications such as prednisone, cortisone, or dexamethasone for 2 months or longer or are taking other medications known to cause bone loss you have a chronic illness or are taking a medication that is known to cause bone loss you have anorexia nervosa or a history of this eating disorder. you are a premenopausal woman, not pregnant, and your menstrual periods have stopped, are irregular, or never started when you reached puberty. Diagnosing Osteoporosis Diagnosing osteoporosis involves several steps, starting with a physical exam and a careful medical history, blood and urine tests, and possibly a bone mineral density assessment. When recording information about your medical history, your doctor will ask questions to find out whether you have risk factors for osteoporosis and fractures. The doctor may ask about - any fractures you have had - your lifestyle (including diet, exercise habits, and whether you smoke) - current or past health problems - medications that could contribute to low bone mass and increased fracture risk - your family history of osteoporosis and other diseases - for women, your menstrual history. any fractures you have had your lifestyle (including diet, exercise habits, and whether you smoke) current or past health problems medications that could contribute to low bone mass and increased fracture risk your family history of osteoporosis and other diseases for women, your menstrual history. The doctor will also do a physical exam that should include checking for loss of height and changes in posture and may include checking your balance and gait (the way you walk). Bone Density Tests The test used to diagnose osteoporosis is called a bone density test. This test is a measure of how strong -- or dense -- your bones are and can help your doctor predict your risk for having a fracture. Bone density tests are painless, safe, and require no preparation on your part. Bone density tests compare your bone density to the bones of an average healthy young adult. The test result, known as a T-score, tells you how strong your bones are, whether you have osteoporosis or osteopenia (low bone mass that is not low enough to be diagnosed as osteoporosis), and your risk for having a fracture. Some bone density tests measure the strength of the hip, spine, and/or wrist, which are the bones that break most often in people with osteoporosis. Other tests measure bone in the heel or hand. Although no bone density test is 100 percent accurate, it is the single most important diagnostic test to predict whether a person will have a fracture in the future. The most widely recognized bone density test is a central DXA (dual-energy x-ray absorptiometry) scan of the hip and spine. This test shows if you have normal bone density, low bone mass, or osteoporosis. It is also used to monitor bone density changes as a person ages or in response to treatment.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for hereditary myopathy with early respiratory failure ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of HMERF: - Gene Review: Gene Review: Hereditary Myopathy with Early Respiratory Failure (HMERF) - Genetic Testing Registry: Hereditary myopathy with early respiratory failure - National Heart, Lung, and Blood Institute: How Is Respiratory Failure Diagnosed? - National Heart, Lung, and Blood Institute: How Is Respiratory Failure Treated? These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Psoriasis ?"}, {"role": "assistant", "content": "There are many types of treatments. Many are medicines and other treatments your doctor will have to prescribe. But there are other types of treatments you can buy without a prescription or try on your own. Some treatments for psoriasis are applied to the directly to the skin. Some use light to treat skin lesions. Others are taken by mouth or injected.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Who is at risk for Parasites - Toxoplasmosis (Toxoplasma infection)? ?"}, {"role": "assistant", "content": "Toxoplasmosis is caused by the protozoan parasite Toxoplasma gondii. In the United States it is estimated that 22.5% of the population 12 years and older have been infected with Toxoplasma. In various places throughout the world, it has been shown that up to 95% of some populations have been infected with Toxoplasma. Infection is often highest in areas of the world that have hot, humid climates and lower altitudes. \n \nToxoplasmosis is not passed from person-to-person, except in instances of mother-to-child (congenital) transmission and blood transfusion or organ transplantation. People typically become infected by three principal routes of transmission. \n \n \n \n \n \n \n \n \n Foodborne transmission \n \nThe tissue form of the parasite (a microscopic cyst consisting of bradyzoites) can be transmitted to humans by food. People become infected by: \n \n - Eating undercooked, contaminated meat (especially pork, lamb, and venison) \n - Accidental ingestion of undercooked, contaminated meat after handling it and not washing hands thoroughly (Toxoplasma cannot be absorbed through intact skin) \n - Eating food that was contaminated by knives, utensils, cutting boards, or other foods that had contact with raw, contaminated meat \n \n \n \n Animal-to-human (zoonotic) transmission \n \nCats play an important role in the spread of toxoplasmosis. They become infected by eating infected rodents, birds, or other small animals. The parasite is then passed in the cat's feces in an oocyst form, which is microscopic. \n \nKittens and cats can shed millions of oocysts in their feces for as long as 3 weeks after infection. Mature cats are less likely to shed Toxoplasma if they have been previously infected. A Toxoplasma-infected cat that is shedding the parasite in its feces contaminates the litter box. If the cat is allowed outside, it can contaminate the soil or water in the environment as well. \n \n \n \n \n \nPeople can accidentally swallow the oocyst form of the parasite. People can be infected by: \n \n - Accidental ingestion of oocysts after cleaning a cat's litter box when the cat has shed Toxoplasma in its feces \n - Accidental ingestion of oocysts after touching or ingesting anything that has come into contact with a cat's feces that contain Toxoplasma \n - Accidental ingestion of oocysts in contaminated soil (e.g., not washing hands after gardening or eating unwashed fruits or vegetables from a garden) \n - Drinking water contaminated with the Toxoplasma parasite \n \n \n \n Mother-to-child (congenital) transmission \n \nA woman who is newly infected with Toxoplasma during pregnancy can pass the infection to her unborn child (congenital infection). The woman may not have symptoms, but there can be severe consequences for the unborn child, such as diseases of the nervous system and eyes. \n \n \n Rare instances of transmission \n \nOrgan transplant recipients can become infected by receiving an organ from a Toxoplasma-positive donor. Rarely, people can also become infected by receiving infected blood via transfusion. Laboratory workers who handle infected blood can also acquire infection through accidental inoculation.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Acromesomelic dysplasia ?"}, {"role": "assistant", "content": "Acromesomelic dysplasia describes a group of extremely rare, inherited, progressive skeletal conditions that result in a particular form of short stature, called short-limb dwarfism. The short stature is the result of unusually short forearms and forelegs (mesomelia) and abnormal shortening of the bones in the hands and feet (acromelia). At birth, the hands and feet may appear abnormally short and broad. Over time, the apparent disproportion becomes even more obvious, especially during the first years of life. Additional features may include: limited extension of the elbows and arms; progressive abnormal curvature of the spine; an enlarged head; and a slightly flattened midface. Acromesomelic dysplasia is inherited as an autosomal recessive trait. There are different types of acromesomelic dysplasia, which are distinguished by their genetic cause. To read more about the different types, click on the links below. Acromesomelic dysplasia, Maroteaux type Acromesomelic dysplasia, Hunter-Thompson type Acromesomelic dysplasia, Grebe type", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Inguinal Hernia ?"}, {"role": "assistant", "content": "An inguinal hernia happens when contents of the abdomenusually fat or part of the small intestinebulge through a weak area in the lower abdominal wall. The abdomen is the area between the chest and the hips. The area of the lower abdominal wall is also called the inguinal or groin region.\n \nTwo types of inguinal hernias are\n \n- indirect inguinal hernias, which are caused by a defect in the abdominal wall that is congenital, or present at birth - direct inguinal hernias, which usually occur only in male adults and are caused by a weakness in the muscles of the abdominal wall that develops over time\n \nInguinal hernias occur at the inguinal canal in the groin region.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) X-linked dystonia-parkinsonism ?"}, {"role": "assistant", "content": "X-linked dystonia-parkinsonism is a movement disorder that has been found only in people of Filipino descent. This condition affects men much more often than women. Parkinsonism is usually the first sign of X-linked dystonia-parkinsonism. Parkinsonism is a group of movement abnormalities including tremors, unusually slow movement (bradykinesia), rigidity, an inability to hold the body upright and balanced (postural instability), and a shuffling gait that can cause recurrent falls. Later in life, many affected individuals also develop a pattern of involuntary, sustained muscle contractions known as dystonia. The dystonia associated with X-linked dystonia-parkinsonism typically starts in one area, most often the eyes, jaw, or neck, and later spreads to other parts of the body. The continuous muscle cramping and spasms can be disabling. Depending on which muscles are affected, widespread (generalized) dystonia can cause difficulty with speaking, swallowing, coordination, and walking. The signs and symptoms of X-linked dystonia-parkinsonism vary widely. In the mildest cases, affected individuals have slowly progressive parkinsonism with little or no dystonia. More severe cases involve dystonia that rapidly becomes generalized. These individuals become dependent on others for care within a few years after signs and symptoms appear, and they may die prematurely from breathing difficulties, infections (such as aspiration pneumonia), or other complications.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) isolated Pierre Robin sequence ?"}, {"role": "assistant", "content": "Pierre Robin sequence is a set of abnormalities affecting the head and face, consisting of a small lower jaw (micrognathia), a tongue that is placed further back than normal (glossoptosis), and an opening in the roof of the mouth (a cleft palate). This condition is described as a \"sequence\" because one of its features, an underdeveloped lower jaw (mandible), sets off a sequence of events before birth that cause the other signs and symptoms. Specifically, having an abnormally small jaw affects placement of the tongue and formation of the palate, leading to glossoptosis and cleft palate. The combination of features characteristic of Pierre Robin sequence can lead to difficulty breathing and problems eating early in life. As a result, some affected babies have an inability to grow and gain weight at the expected rate (failure to thrive). In some children with Pierre Robin sequence, growth of the mandible catches up, and these individuals have normal-sized chins. Some people have Pierre Robin sequence as part of a syndrome that affects other organs and tissues in the body, such as campomelic dysplasia or Stickler syndrome. These instances are described as syndromic. When Pierre Robin sequence occurs by itself, it is described as nonsyndromic or isolated. Approximately 20 to 40 percent of cases of Pierre Robin sequence are isolated.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the stages of Childhood Soft Tissue Sarcoma ?"}, {"role": "assistant", "content": "Key Points\n - After childhood soft tissue sarcoma has been diagnosed, tests are done to find out if cancer cells have spread to other parts of the body. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body.\n \n \n After childhood soft tissue sarcoma has been diagnosed, tests are done to find out if cancer cells have spread to other parts of the body.\n The process used to find out if cancer has spread within the soft tissue or to other parts of the body is called staging. There is no standard staging system for childhood soft tissue sarcoma. In order to plan treatment, it is important to know the type of soft tissue sarcoma, whether the tumor can be removed by surgery, and whether cancer has spread to other parts of the body. The following procedures may be used to find out if cancer has spread: - Sentinel lymph node biopsy: A sentinel lymph node biopsy is done to check if cancer has spread to the lymph nodes. The sentinel lymph node is the first lymph node to receive lymphatic drainage from a tumor. It is the first lymph node the cancer is likely to spread to from the tumor. A small amount of a radioactive substance and/or blue dye is injected near the tumor. The radioactive substance or dye flows through the lymph ducts to the lymph nodes. The first lymph node to receive the substance or dye is removed. A pathologist views the tissue under a microscope to look for cancer cells. If cancer cells are not found, it may not be necessary to remove more lymph nodes. This procedure is used for epithelioid and clear cell sarcoma. - PET scan: A PET scan is a procedure to find malignant tumor cells in the body. A small amount of radioactive glucose (sugar) is injected into a vein. The PET scanner rotates around the body and makes a picture of where glucose is being used in the body. Malignant tumor cells show up brighter in the picture because they are more active and take up more glucose than normal cells do. This procedure is also called positron emission tomography (PET) scan. - PET-CT scan: A procedure that combines the pictures from a PET scan and a computed tomography (CT) scan. The PET and CT scans are done at the same time on the same machine. The pictures from both scans are combined to make a more detailed picture than either test would make by itself.\n \n \n There are three ways that cancer spreads in the body.\n Cancer can spread through tissue, the lymph system, and the blood: - Tissue. The cancer spreads from where it began by growing into nearby areas. - Lymph system. The cancer spreads from where it began by getting into the lymph system. The cancer travels through the lymph vessels to other parts of the body. - Blood. The cancer spreads from where it began by getting into the blood. The cancer travels through the blood vessels to other parts of the body.\n \n \n Cancer may spread from where it began to other parts of the body.\n When cancer spreads to another part of the body, it is called metastasis. Cancer cells break away from where they began (the primary tumor) and travel through the lymph system or blood. - Lymph system. The cancer gets into the lymph system, travels through the lymph vessels, and forms a tumor (metastatic tumor) in another part of the body. - Blood. The cancer gets into the blood, travels through the blood vessels, and forms a tumor (metastatic tumor) in another part of the body. The metastatic tumor is the same type of cancer as the primary tumor. For example, if soft tissue sarcoma spreads to the lung, the cancer cells in the lung are soft tissue sarcoma cells. The disease is metastatic soft tissue sarcoma, not lung cancer.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Gordon syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Gordon syndrome? Gordon syndrome belongs to a group of conditions known as the distal arthrogryposes, which are characterized by stiffness and impaired mobility of certain joints of the lower arms and legs including the wrists, elbows, knees and/or ankles. The range and severity of features in affected individuals can vary. Most infants with Gordon syndrome have several fingers that are permanently fixed in a flexed position (camptodactyly), which may result in limited range of motion and compromised manual dexterity. Affected infants may also have clubfoot. Approximately 20-30% have cleft palate (incomplete closure of the roof of the mouth). Other signs and symptoms in some individuals may include a bifid uvula (abnormal splitting of the soft hanging tissue at the back of the throat); short stature; dislocation of the hip; abnormal backward curvature of the upper spine (lordosis); and/or kyphoscoliosis. In addition, some affected individuals may have drooping of the eyelids (ptosis); epicanthal folds; syndactyly (webbing of the fingers and/or toes); abnormal skin patterns on the hands and feet (dermatoglyphics); and/or a short, webbed neck (pterygium colli). Some affected males have undescended testes (cryptorchidism). Cognitive development is typically normal. The Human Phenotype Ontology provides the following list of signs and symptoms for Gordon syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Camptodactyly of finger 90% Talipes 90% Skeletal muscle atrophy 50% Cleft palate 7.5% Clinodactyly of the 5th finger 7.5% Cryptorchidism 7.5% Facial asymmetry 7.5% Finger syndactyly 7.5% Hearing impairment 7.5% Limitation of joint mobility 7.5% Pectus excavatum 7.5% Scoliosis 7.5% Short stature 7.5% Ophthalmoplegia 5% Abnormality of the rib cage - Autosomal dominant inheritance - Bifid uvula - Camptodactyly of toe - Congenital hip dislocation - Cutaneous finger syndactyly - Decreased hip abduction - Distal arthrogryposis - Down-sloping shoulders - Epicanthus - High palate - Knee flexion contracture - Kyphoscoliosis - Lumbar hyperlordosis - Overlapping toe - Ptosis - Short neck - Short phalanx of finger - Single transverse palmar crease - Submucous cleft hard palate - Talipes equinovarus - Thoracolumbar scoliosis - Ulnar deviation of the hand or of fingers of the hand - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Weissenbacher-Zweymuller syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Weissenbacher-Zweymuller syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Weissenbacher-Zweymuller syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of pelvic girdle bone morphology - Autosomal dominant inheritance - Cleft palate - Coronal cleft vertebrae - Depressed nasal bridge - Dumbbell-shaped long bone - Enlarged epiphyses - Hypertelorism - Pierre-Robin sequence - Proptosis - Rhizomelia - Sensorineural hearing impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Asperger syndrome inherited ?"}, {"role": "assistant", "content": "Is Asperger syndrome inherited? Autism spectrum disorders including Asperger syndrome sometimes \"run in families,\" but no specific inheritance pattern has been recognized. The condition is likely caused by a combination of genetic and environmental factors, which means that not all people with a genetic predisposition will be affected. A consultation with a genetics professional is recommended for those with specific questions about genetic risks to themselves or family members.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Cerebellar Hypoplasia ?"}, {"role": "assistant", "content": "There is no standard course of treatment for cerebellar hypoplasia. Treatment depends upon the underlying disorder and the severity of symptoms. Generally, treatment is symptomatic and supportive.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Colorectal Cancer ?"}, {"role": "assistant", "content": "Here are some of the tools used to detect colorectal cancer. - A fecal occult blood test, or FOBT, is a test used to check for hidden blood in the stool. Sometimes cancers or polyps can bleed, and FOBT can detect small amounts of bleeding. Newer, genetically-based stool tests are proving to be more accurate than older tests. A fecal occult blood test, or FOBT, is a test used to check for hidden blood in the stool. Sometimes cancers or polyps can bleed, and FOBT can detect small amounts of bleeding. Newer, genetically-based stool tests are proving to be more accurate than older tests. - A sigmoidoscopy is an examination of the rectum and lower colon -- or sigmoid colon -- using a lighted instrument called a sigmoidoscope. A sigmoidoscopy is an examination of the rectum and lower colon -- or sigmoid colon -- using a lighted instrument called a sigmoidoscope. - A colonoscopy is an examination of the rectum and the large intestine (but not the small intestine) using a lighted instrument called a colonoscope. A colonoscopy is an examination of the rectum and the large intestine (but not the small intestine) using a lighted instrument called a colonoscope. - A virtual colonoscopy, which requires the same preparation as a standard colonoscopy, is done with an external scanning machine as opposed to a device inserted into the colon. The colon does need to be inflated with gas for proper scanning. A virtual colonoscopy, which requires the same preparation as a standard colonoscopy, is done with an external scanning machine as opposed to a device inserted into the colon. The colon does need to be inflated with gas for proper scanning.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Polyarteritis nodosa ?"}, {"role": "assistant", "content": "How might polyarteritis nodosa be treated? Few people with polyarteritis nodosa have mild disease that remains stable with nonaggressive therapy; because of the risk for serious health complications, aggressive therapy is often recommended. Treatment may include prednisone in divided doses. Additional therapy, such as cyclophosphamide, chlorambucil, azathioprine, methotrexate, dapsone, cyclosporine, or plasma exchange, may also be recommended. The goal of therapy is remission (to have no active disease) within 6 months or so. At this point the person may be maintained on cyclophosphamide (or other therapy) for a year, before it is tapered and withdrawn over the course of 3 to 6 months.It is very important that people undergoing treatment for polyarteritis nodosa be monitored closely for toxic effects of the drugs or for signs of worsening disease. This monitoring may involve blood counts, urinalyses, serum chemistries, and the ESR on at least monthly intervals.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Williams syndrome ?"}, {"role": "assistant", "content": "What causes Williams syndrome? Williams syndrome is caused by the deletion of genetic material from a specific region of chromosome 7. The deleted region includes more than 25 genes, and researchers believe that a loss of several of these genes probably contributes to the characteristic features of this disorder. CLIP2, ELN, GTF2I, GTF2IRD1, and LIMK1 are among the genes that are typically deleted in people with Williams syndrome. Researchers have found that the loss of the ELN gene is associated with the connective tissue abnormalities and cardiovascular disease (specifically supravalvular aortic stenosis) found in many people with this condition. Studies suggest that deletions of CLIP2, GTF2I, GTF2IRD1, LIMK1, and perhaps other genes may help explain the characteristic difficulties with visual-spatial tasks, unique behavioral characteristics, and other cognitive difficulties seen in people with Williams syndrome. Loss of the GTF2IRD1 gene may also contribute to the distinctive facial features often associated with this condition. Researchers believe that the presence or absence of the NCF1 gene on chromosome 7 is related to the risk of developing hypertension in people with Williams syndrome. When the NCF1 gene is included in the part of the chromosome that is deleted, affected individuals are less likely to develop hypertension. Therefore, the loss of this gene appears to be a protective factor. People with Williams syndrome whose NCF1 gene is not deleted have a higher risk of developing hypertension. The relationship between other genes in the deleted region of chromosome 7 and the signs and symptoms of Williams syndrome is unknown.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Hennekam syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Hennekam syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hennekam syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal facial shape 90% Abnormality of dental morphology 90% Cognitive impairment 90% Decreased antibody level in blood 90% Delayed eruption of teeth 90% Depressed nasal bridge 90% External ear malformation 90% Hypertelorism 90% Increased number of teeth 90% Low-set, posteriorly rotated ears 90% Lymphangioma 90% Lymphedema 90% Lymphopenia 90% Malabsorption 90% Malar flattening 90% Reduced number of teeth 90% Abnormality of the genital system 50% Ascites 50% Broad forehead 50% Epicanthus 50% Erysipelas 50% Gingival overgrowth 50% Lymphadenopathy 50% Narrow chest 50% Recurrent respiratory infections 50% Seizures 50% Splenomegaly 50% Abnormal localization of kidney 7.5% Abnormality of neuronal migration 7.5% Abnormality of the foot 7.5% Abnormality of the pericardium 7.5% Abnormality of the pleura 7.5% Arteriovenous malformation 7.5% Benign neoplasm of the central nervous system 7.5% Camptodactyly of finger 7.5% Conductive hearing impairment 7.5% Craniosynostosis 7.5% Finger syndactyly 7.5% Glaucoma 7.5% Hydrops fetalis 7.5% Hypocalcemia 7.5% Narrow mouth 7.5% Pyloric stenosis 7.5% Respiratory insufficiency 7.5% Short philtrum 7.5% Atria septal defect - Autosomal recessive inheritance - Bilateral single transverse palmar creases - Camptodactyly - Conical incisor - Coronal craniosynostosis - Cryptorchidism - Cutaneous finger syndactyly - Delayed skeletal maturation - Ectopic kidney - Flat face - Hirsutism - Horseshoe kidney - Hydronephrosis - Hyperactivity - Hypoalbuminemia - Hypoplastic iliac wing - Intellectual disability - Intestinal lymphangiectasia - Joint contracture of the hand - Low-set ears - Mild postnatal growth retardation - Narrow palate - Oligodontia - Pachygyria - Pectus excavatum - Pericardial effusion - Pericardial lymphangiectasia - Periorbital edema - Pleural effusion - Pleural lymphangiectasia - Protein-losing enteropathy - Rectal prolapse - Retrognathia - Scoliosis - Sensorineural hearing impairment - Short foot - Short palm - Small hand - Smooth philtrum - Spina bifida occulta - Talipes equinovarus - Thyroid lymphangiectasia - Umbilical hernia - Ventricular septal defect - Vesicoureteral reflux - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Parkinson disease ?"}, {"role": "assistant", "content": "Parkinson disease is a progressive disorder of the nervous system. The disorder affects several regions of the brain, especially an area called the substantia nigra that controls balance and movement. Often the first symptom of Parkinson disease is trembling or shaking (tremor) of a limb, especially when the body is at rest. Typically, the tremor begins on one side of the body, usually in one hand. Tremors can also affect the arms, legs, feet, and face. Other characteristic symptoms of Parkinson disease include rigidity or stiffness of the limbs and torso, slow movement (bradykinesia) or an inability to move (akinesia), and impaired balance and coordination (postural instability). These symptoms worsen slowly over time. Parkinson disease can also affect emotions and thinking ability (cognition). Some affected individuals develop psychiatric conditions such as depression and visual hallucinations. People with Parkinson disease also have an increased risk of developing dementia, which is a decline in intellectual functions including judgment and memory. Generally, Parkinson disease that begins after age 50 is called late-onset disease. The condition is described as early-onset disease if signs and symptoms begin before age 50. Early-onset cases that begin before age 20 are sometimes referred to as juvenile-onset Parkinson disease.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is the outlook for Alternating Hemiplegia ?"}, {"role": "assistant", "content": "Children with the benign form of alternating hemiplegia have a good prognosis. Those who experience the more severe form have a poor prognosis because intellectual and mental capacities do not respond to drug therapy, and balance and gait problems continue. Over time, walking unassisted becomes difficult or impossible.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of IPEX syndrome: - Gene Review: Gene Review: IPEX Syndrome - Genetic Testing Registry: Insulin-dependent diabetes mellitus secretory diarrhea syndrome - Seattle Children's Hospital These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) pyridoxine-dependent epilepsy ?"}, {"role": "assistant", "content": "Pyridoxine-dependent epilepsy is a condition that involves seizures beginning in infancy or, in some cases, before birth. Those affected typically experience prolonged seizures lasting several minutes (status epilepticus). These seizures involve muscle rigidity, convulsions, and loss of consciousness (tonic-clonic seizures). Additional features of pyridoxine-dependent epilepsy include low body temperature (hypothermia), poor muscle tone (dystonia) soon after birth, and irritability before a seizure episode. In rare instances, children with this condition do not have seizures until they are 1 to 3 years old. Anticonvulsant drugs, which are usually given to control seizures, are ineffective in people with pyridoxine-dependent epilepsy. Instead, people with this type of seizure are medically treated with large daily doses of pyridoxine (a type of vitamin B6 found in food). If left untreated, people with this condition can develop severe brain dysfunction (encephalopathy). Even though seizures can be controlled with pyridoxine, neurological problems such as developmental delay and learning disorders may still occur.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Odonto onycho dysplasia with alopecia ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Odonto onycho dysplasia with alopecia? The Human Phenotype Ontology provides the following list of signs and symptoms for Odonto onycho dysplasia with alopecia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the fingernails 90% Alopecia 90% Aplasia/Hypoplasia of the eyebrow 90% Hypoplastic toenails 90% Microdontia 90% Palmoplantar keratoderma 90% Reduced number of teeth 90% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Psoriasis ?"}, {"role": "assistant", "content": "The goals of psoriasis treatment are to change the course of the disease by interfering with the increased production of skin cells, and to remove scales and smooth rough skin.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Fraser like syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Fraser like syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Fraser like syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Contracture of the proximal interphalangeal joint of the 2nd finger - Ovarian cyst - Overlapping toe - Subglottic stenosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Nerve Disease and Bladder Control ?"}, {"role": "assistant", "content": "The treatment for a bladder control problem depends on the cause of the nerve damage and the type of voiding dysfunction that results.\n \nIn the case of overactive bladder, your doctor may suggest a number of strategies, including bladder training, electrical stimulation, drug therapy, and, in severe cases where all other treatments have failed, surgery.\n \nBladder training. Your doctor may ask you to keep a bladder diary-a record of your fluid intake, trips to the bathroom, and episodes of urine leakage. This record may indicate a pattern and suggest ways to avoid accidents by making a point of using the bathroom at certain times of the day-a practice called timed voiding. As you gain control, you can extend the time between trips to the bathroom. Bladder training also includes Kegel exercises to strengthen the muscles that hold in urine.\n \nElectrical stimulation. Mild electrical pulses can be used to stimulate the nerves that control the bladder and sphincter muscles. Depending on which nerves the doctor plans to treat, these pulses can be given through the vagina or anus, or by using patches on the skin. Another method is a minor surgical procedure to place the electric wire near the tailbone. This procedure involves two steps. First, the wire is placed under the skin and connected to a temporary stimulator, which you carry with you for several days. If your condition improves during this trial period, then the wire is placed next to the tailbone and attached to a permanent stimulator under your skin. The Food and Drug Administration (FDA) has approved this device, marketed as the InterStim system, to treat urge incontinence, urgency-frequency syndrome, and urinary retention in patients for whom other treatments have not worked.\n \nDrug therapy. Different drugs can affect the nerves and muscles of the urinary tract in different ways.\n \n- Drugs that relax bladder muscles and prevent bladder spasms include oxybutynin chloride (Ditropan), tolterodine (Detrol), hyoscyamine (Levsin), and propantheline bromide (Pro-Banthine), which belong to the class of drugs called anticholinergics. Their most common side effect is dry mouth, although large doses may cause blurred vision, constipation, a faster heartbeat, and flushing. A new patch delivery system for oxybutynin (Oxytrol) may decrease side effects. Ditropan XL and Detrol LA are timed-release formulations that deliver a low level of the drug continuously in the body. These drugs have the advantage of once-a-day administration. In 2004, the FDA approved trospium chloride (Sanctura), darifenacin (Enablex), and solifenacin succinate (VESIcare) for the treatment of overactive bladder. - Drugs for depression that also relax bladder muscles include imipramine hydrochloride (Tofranil), a tricyclic antidepressant. Side effects may include fatigue, dry mouth, dizziness, blurred vision, nausea, and insomnia.\n \nAdditional drugs are being evaluated for the treatment of overactive bladder and may soon receive FDA approval.\n \nSurgery. In extreme cases, when incontinence is severe and other treatments have failed, surgery may be considered. The bladder may be made larger through an operation known as augmentation cystoplasty, in which a part of the diseased bladder is replaced with a section taken from the patient's bowel. This operation may improve the ability to store urine but may make the bladder more difficult to empty, making regular catheterization necessary. Additional risks of surgery include the bladder breaking open and leaking urine into the body, bladder stones, mucus in the bladder, and infection.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Gum (Periodontal) Disease ?"}, {"role": "assistant", "content": "The dentist will ask about your medical history to identify any conditions or risk factors such as smoking that may contribute to gum disease. The dentist or hygienist will also - examine your gums and note any signs of inflammation. - use a tiny ruler called a 'probe' to check for and measure any periodontal pockets. In a healthy mouth, the depth of these pockets is usually between 1 and 3 millimeters. - take an x-ray to see whether there is any bone loss. examine your gums and note any signs of inflammation. use a tiny ruler called a 'probe' to check for and measure any periodontal pockets. In a healthy mouth, the depth of these pockets is usually between 1 and 3 millimeters. take an x-ray to see whether there is any bone loss. The dentist or hygienist may also - take an x-ray to see whether there is any bone loss and to examine the condition of the teeth and supporting tissues. - refer you to a periodontist. Periodontists are experts in the diagnosis and treatment of gum disease and may provide you with treatment options that are not offered by your dentist. take an x-ray to see whether there is any bone loss and to examine the condition of the teeth and supporting tissues. refer you to a periodontist. Periodontists are experts in the diagnosis and treatment of gum disease and may provide you with treatment options that are not offered by your dentist.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Peptic Ulcer ?"}, {"role": "assistant", "content": "A peptic ulcer is a sore in the lining of your stomach or your duodenum, the first part of your small intestine. A burning stomach pain is the most common symptom. The pain - Starts between meals or during the night - Briefly stops if you eat or take antacids - Lasts for minutes to hours - Comes and goes for several days or weeks Peptic ulcers happen when the acids that help you digest food damage the walls of the stomach or duodenum. The most common cause is infection with a bacterium called Helicobacter pylori. Another cause is the long-term use of nonsteroidal anti-inflammatory medicines (NSAIDs) such as aspirin and ibuprofen. Stress and spicy foods do not cause ulcers, but can make them worse. To see if you have an H. pylori infection, your doctor will test your blood, breath, or stool. Your doctor also may look inside your stomach and duodenum by doing an endoscopy or x-ray. Peptic ulcers will get worse if not treated. Treatment may include medicines to reduce stomach acids or antibiotics to kill H. pylori. Antacids and milk can't heal peptic ulcers. Not smoking and avoiding alcohol can help. You may need surgery if your ulcers don't heal. NIH: National Institute of Diabetes and Digestive and Kidney Diseases", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Doyne honeycomb retinal dystrophy ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Doyne honeycomb retinal dystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Doyne honeycomb retinal dystrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Reticular pigmentary degeneration - Retinal dystrophy - Visual impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Kennedy's Disease ?"}, {"role": "assistant", "content": "Currently there is no known cure for Kennedy's disease. Treatment is symptomatic and supportive. Physical therapy and rehabilitation to slow muscle weakness and atrophy may prove helpful.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Hennekam syndrome ?"}, {"role": "assistant", "content": "Hennekam syndrome is a rare condition that affects the lymphatic system. Signs and symptoms of the condition are generally noticeable at birth and vary significantly from person to person, even within the same family. Affected people generally experience lymphangiectasia (lymphatic vessels that are abnormally expanded), lymphedema, and distinctive facial features (i.e. a flattened appearance to the middle of the face, puffy eyelids, widely spaced eyes, small ears, and a small mouth). Other common features include intellectual disability, growth delay, respiratory problems, camptodactyly (permanently bent fingers and toes) and cutaneous syndactyly (fusion of the skin between the fingers and toes). Hennekam syndrome is caused by changes (mutations) in the CCBE1 or FAT4 genes and is inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Osteoarthritis ?"}, {"role": "assistant", "content": "Treatment Goals: Manage Pain, Improve Function Osteoarthritis treatment plans often include ways to manage pain and improve function. Such plans can include exercise, rest and joint care, pain relief, weight control, medicines, surgery, and non-traditional treatment approaches. Current treatments for osteoarthritis can relieve symptoms such as pain and disability, but right now there are no treatments that can cure osteoarthritis. Exercise: One of the Best Treatments Exercise is one of the best treatments for osteoarthritis. It can improve mood and outlook, decrease pain, increase flexibility, and help you maintain a healthy weight. The amount and form of exercise will depend on which joints are involved, how stable the joints are, whether or not the joint is swollen, and whether a joint replacement has already been done. Ask your doctor or physical therapist what exercises are best for you The following types of exercise are part of a well-rounded arthritis treatment plan. - Strengthening exercises. These exercises strengthen muscles that support joints affected by arthritis. They can be performed with weights or with exercise bands, inexpensive devices that add resistance. - Aerobic activities. These are exercises, such as brisk walking or low-impact aerobics, that get your heart pumping and can keep your lungs and circulatory system in shape. - Range-of-motion activities. These keep your joints limber. - Balance and agility exercises. These help you maintain your balance and reduce the risk of falling. Strengthening exercises. These exercises strengthen muscles that support joints affected by arthritis. They can be performed with weights or with exercise bands, inexpensive devices that add resistance. Aerobic activities. These are exercises, such as brisk walking or low-impact aerobics, that get your heart pumping and can keep your lungs and circulatory system in shape. Range-of-motion activities. These keep your joints limber. Balance and agility exercises. These help you maintain your balance and reduce the risk of falling. To see examples of exercises for older adults, see Exercises to Try or visit Go4Life, the National Institute on Agings exercise and physical activity program for older adults. Weight Control If you are overweight or obese, you should try to lose weight. Weight loss can reduce stress on weight-bearing joints, limit further injury, increase mobility, and reduce the risk of associated health problems. A dietitian can help you develop healthy eating habits. A healthy diet and regular exercise help reduce weight. Rest and Relief from Stress on Joints Treatment plans include regularly scheduled rest. You must learn to recognize the bodys signals, and know when to stop or slow down. This will prevent the pain caused by overexertion. Although pain can make it difficult to sleep, getting proper sleep is important for managing arthritis pain. If you have trouble sleeping, you may find that relaxation techniques, stress reduction, and biofeedback can help. Timing medications to provide maximum pain relief through the night can also help. If joint pain interferes with your ability to sleep or rest, consult your doctor. Some people find relief from special footwear and insoles that can reduce pain and improve walking or from using canes to take pressure off painful joints. They may use splints or braces to provide extra support for joints and/ or keep them in proper position during sleep or activity. Splints should be used only for limited periods of time because joints and muscles need to be exercised to prevent stiffness and weakness. If you need a splint, an occupational therapist or a doctor can help you get a properly fitted one. Non-drug Pain Relief and Alternative Therapies People with osteoarthritis may find many nondrug ways to relieve pain. Below are some examples. - Heat and cold. Heat or cold (or a combination of the two) can be useful for joint pain. Heat can be applied in a number of different ways -- with warm towels, hot packs, or a warm bath or shower -- to increase blood flow and ease pain and stiffness. In some cases, cold packs (bags of ice or frozen vegetables wrapped in a towel), which reduce inflammation, can relieve pain or numb the sore area. (Check with a doctor or physical therapist to find out if heat or cold is the best treatment.) Heat and cold. Heat or cold (or a combination of the two) can be useful for joint pain. Heat can be applied in a number of different ways -- with warm towels, hot packs, or a warm bath or shower -- to increase blood flow and ease pain and stiffness. In some cases, cold packs (bags of ice or frozen vegetables wrapped in a towel), which reduce inflammation, can relieve pain or numb the sore area. (Check with a doctor or physical therapist to find out if heat or cold is the best treatment.) - Transcutaneous electrical nerve stimulation (TENS). TENS is a technique that uses a small electronic device to direct mild electric pulses to nerve endings that lie beneath the skin in the painful area. TENS may relieve some arthritis pain. It seems to work by blocking pain messages to the brain and by modifying pain perception. Transcutaneous electrical nerve stimulation (TENS). TENS is a technique that uses a small electronic device to direct mild electric pulses to nerve endings that lie beneath the skin in the painful area. TENS may relieve some arthritis pain. It seems to work by blocking pain messages to the brain and by modifying pain perception. - Massage. In this pain-relief approach, a massage therapist will lightly stroke and/or knead the painful muscles. This may increase blood flow and bring warmth to a stressed area. However, arthritis-stressed joints are sensitive, so the therapist must be familiar with the problems of the disease. Massage. In this pain-relief approach, a massage therapist will lightly stroke and/or knead the painful muscles. This may increase blood flow and bring warmth to a stressed area. However, arthritis-stressed joints are sensitive, so the therapist must be familiar with the problems of the disease. - Acupuncture. Some people have found pain relief using acupuncture, a practice in which fine needles are inserted by a licensed acupuncture therapist at specific points on the skin. Scientists think the needles stimulate the release of natural, pain-relieving chemicals produced by the nervous system. A large study supported by the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) and the National Center for Complementary and Alternative Medicine (NCCAM) revealed that acupuncture relieves pain and improves function in knee osteoarthritis, and it serves as an effective complement to standard care. Acupuncture. Some people have found pain relief using acupuncture, a practice in which fine needles are inserted by a licensed acupuncture therapist at specific points on the skin. Scientists think the needles stimulate the release of natural, pain-relieving chemicals produced by the nervous system. A large study supported by the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) and the National Center for Complementary and Alternative Medicine (NCCAM) revealed that acupuncture relieves pain and improves function in knee osteoarthritis, and it serves as an effective complement to standard care. - Nutritional supplements, such as glucosamine and chondroitin sulfate have been reported to improve the symptoms of people with osteoarthritis, as have certain vitamins. Additional studies have been carried out to further evaluate these claims. It is unknown whether they might change the course of disease. Nutritional supplements, such as glucosamine and chondroitin sulfate have been reported to improve the symptoms of people with osteoarthritis, as have certain vitamins. Additional studies have been carried out to further evaluate these claims. It is unknown whether they might change the course of disease. - Folk remedies. These include the wearing of copper bracelets, following special diets, and rubbing WD-40 on joints to lubricate them. Although these practices may or may not be harmful, no scientific research to date shows that they are helpful in treating osteoarthritis. They can also be expensive, and using them may cause people to delay or even abandon useful medical treatment. Folk remedies. These include the wearing of copper bracelets, following special diets, and rubbing WD-40 on joints to lubricate them. Although these practices may or may not be harmful, no scientific research to date shows that they are helpful in treating osteoarthritis. They can also be expensive, and using them may cause people to delay or even abandon useful medical treatment. For general information on alternative therapies, see the Complementary Health Approaches topic. Medications Doctors consider a number of factors when choosing medicines for their patients. In particular, they look at the type of pain the patient may be having and any possible side effects from the drugs. For pain relief, doctors usually start with acetaminophen because the side effects are minimal. If acetaminophen does not relieve pain, then non-steroidal anti-inflammatory drugs such as ibuprofen and naproxen may be used. Some NSAIDs are available over the counter, while more than a dozen others, including a subclass called COX-2 inhibitors, are available only with a prescription. Other medications, including corticosteroids, hyaluronic acid, and topical creams are also used. Reduce the Risks of NSAID Use Most medicines used to treat osteoarthritis have side effects, so it is important for people to learn about the medicines they take. For example, people over age 65 and those with any history of ulcers or stomach bleeding should use non-steroidal anti-inflammatory drugs, or NSAIDs, with caution. There are measures you can take to help reduce the risk of side effects associated with NSAIDs. These include taking medications with food and avoiding stomach irritants such as alcohol, tobacco, and caffeine. In some cases, it may help to take another medication along with an NSAID to coat the stomach or block stomach acids. Although these measures may help, they are not always completely effective. For more tips on how older adults can avoid side effects, see Side Effects in the Taking Medicines topic. Surgery For many people, surgery helps relieve the pain and disability of osteoarthritis. Surgery may be performed to achieve one or more of the following goals. - Removal of loose pieces of bone and cartilage from the joint if they are causing symptoms of buckling or locking (arthroscopic debridement). - Repositioning of bones (osteotomy). - Resurfacing (smoothing out) bones (joint resurfacing). Removal of loose pieces of bone and cartilage from the joint if they are causing symptoms of buckling or locking (arthroscopic debridement). Repositioning of bones (osteotomy). Resurfacing (smoothing out) bones (joint resurfacing). Joint Replacement Surgeons may replace affected joints with artificial joints called prostheses. These joints can be made from metal alloys, high-density plastic, and ceramic material. Some prostheses are joined to bone surfaces with special cements. Others have porous surfaces and rely on the growth of bone into that surface (a process called biologic fixation) to hold them in place. Artificial joints can last 10 to 15 years or longer. Surgeons choose the design and components of prostheses according to their patients weight, sex, age, activity level, and other medical conditions. Joint replacement advances in recent years have included the ability, in some cases, to replace only the damaged part of the knee joint, leaving undamaged parts of the joint intact, and the ability to perform hip replacement through much smaller incisions than previously possible. For more on joint replacement see the Hip Replacement and Knee Replacement topics. Deciding on Surgery The decision to use surgery depends on several factors, including the patients age, occupation, level of disability, pain intensity, and the degree to which arthritis interferes with his or her lifestyle. After surgery and rehabilitation, the patient usually feels less pain and swelling and can move more easily.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of HurlerScheie syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of HurlerScheie syndrome ? The Human Phenotype Ontology provides the following list of signs and symptoms for HurlerScheie syndrome . If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal form of the vertebral bodies 90% Abnormality of the heart valves 90% Abnormality of the tonsils 90% Coarse facial features 90% Hepatomegaly 90% Hernia 90% Limitation of joint mobility 90% Opacification of the corneal stroma 90% Short stature 90% Sinusitis 90% Skeletal dysplasia 90% Splenomegaly 90% Abnormal pyramidal signs 50% Decreased nerve conduction velocity 50% Sensorineural hearing impairment 50% Spinal canal stenosis 50% Hypertrichosis 7.5% Hypertrophic cardiomyopathy 7.5% Aortic regurgitation - Autosomal recessive inheritance - Corneal opacity - Depressed nasal bridge - Dysostosis multiplex - Hirsutism - Joint stiffness - Kyphosis - Mitral regurgitation - Obstructive sleep apnea - Pulmonary hypertension - Recurrent respiratory infections - Scoliosis - Thick vermilion border - Tracheal stenosis - Umbilical hernia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Squamous cell carcinoma of the head and neck ?"}, {"role": "assistant", "content": "Cancers that are known collectively as head and neck cancers usually begin in the squamous cells that line the moist, mucosal surfaces inside the head and neck (for example, inside the mouth, the nose, and the throat). These squamous cell cancers are often referred to as squamous cell carcinomas of the head and neck. At least 75 % of head and neck cancers are caused by tobacco and alcohol use. Infection with cancer-causing types of human papillomavirus (HPV), especially HPV-16, is a risk factor for some types of head and neck cancers. The symptoms of head and neck cancers may include a lump or a sore that does not heal, a sore throat that does not go away, difficulty in swallowing, and a change or hoarseness in the voice. Treatment for head and neck cancer can include surgery, radiation therapy, chemotherapy, targeted therapy, or a combination of treatments.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Frontal fibrosing alopecia ?"}, {"role": "assistant", "content": "What causes frontal fibrosing alopecia? The exact underlying cause of frontal fibrosing alopecia (FFA) is unknown. FFA is thought to be an autoimmune condition in which an affected person's immune system mistakenly attacks the hair follicles (structures in the skin that make hair). Scientists also suspect that there may be a hormonal component since the condition most commonly affects post-menopausal women over age 50.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) adiposis dolorosa ?"}, {"role": "assistant", "content": "Adiposis dolorosa is a condition characterized by painful folds of fatty (adipose) tissue or the growth of multiple noncancerous (benign) fatty tumors called lipomas. This condition occurs most often in women who are overweight or obese, and signs and symptoms typically appear between ages 35 and 50. In people with adiposis dolorosa, abnormal fatty tissue or lipomas can occur anywhere on the body but are most often found on the torso, buttocks, and upper parts of the arms and legs. Lipomas usually feel like firm bumps (nodules) under the skin. The growths cause burning or aching that can be severe. In some people, the pain comes and goes, while in others it is continuous. Movement or pressure on adipose tissue or lipomas can make the pain worse. Other signs and symptoms that have been reported to occur with adiposis dolorosa include general weakness and tiredness (fatigue), depression, irritability, confusion, recurrent seizures (epilepsy), and a progressive decline in intellectual function (dementia). These problems do not occur in everyone with adiposis dolorosa, and it is unclear whether they are directly related to the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is prothrombin deficiency inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is McCune Albright syndrome inherited ?"}, {"role": "assistant", "content": "Is McCune Albright syndrome inherited? McCune Albright syndrome (MAS) is not inherited. It is caused by a random change (mutation) in the GNAS gene that occurs very early in development. As a result, some of the body's cells have a normal version of the GNAS gene, while other cells have the mutated version. This phenomenon is called mosaicism. The severity of this disorder and its specific features depend on the number and location of cells that have the mutated GNAS gene. This mutation is not passed on to any of the affected individual's children.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Costocoracoid ligament congenitally short ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Costocoracoid ligament congenitally short? The Human Phenotype Ontology provides the following list of signs and symptoms for Costocoracoid ligament congenitally short. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the shoulder 90% Narrow chest 90% Sprengel anomaly 90% Abnormality of the scapula - Abnormality of the shoulder girdle musculature - Autosomal dominant inheritance - Down-sloping shoulders - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is 7q11.23 duplication syndrome inherited ?"}, {"role": "assistant", "content": "7q11.23 duplication syndrome is considered to be an autosomal dominant condition, which means one copy of chromosome 7 with the duplication in each cell is sufficient to cause the disorder. Most cases result from a duplication that occurs during the formation of reproductive cells (eggs and sperm) or in early fetal development. These cases occur in people with no history of the disorder in their family. Less commonly, an affected person inherits the chromosome with a duplicated segment from a parent.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "what research (or clinical trials) is being done for Lambert-Eaton Myasthenic Syndrome ?"}, {"role": "assistant", "content": "The NINDS supports research on neuromuscular disorders such as LEMS with the ultimate goal of finding ways to treat, prevent, and cure them.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Lissencephaly X-linked ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Lissencephaly X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Lissencephaly X-linked. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Seizures 90% Hypertonia 50% Muscular hypotonia 50% Agenesis of corpus callosum - Ataxia - Death in infancy - Dysarthria - Incomplete penetrance - Infantile onset - Intellectual disability - Lissencephaly - Micropenis - Motor delay - Muscular hypotonia of the trunk - Nystagmus - Pachygyria - Postnatal growth retardation - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for congenital afibrinogenemia ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of congenital afibrinogenemia: - Genetic Testing Registry: Hereditary factor I deficiency disease These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is desmosterolosis inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Accessory deep peroneal nerve ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Accessory deep peroneal nerve? The Human Phenotype Ontology provides the following list of signs and symptoms for Accessory deep peroneal nerve. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the nervous system - Autosomal dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Hennekam syndrome ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of Hennekam syndrome: - Great Ormond Street Hospital for Children (UK): Primary Intestinal Lymphangiectasia Information - Johns Hopkins Medicine: Lymphedema Management - VascularWeb: Lymphedema These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by inclusion body myopathy 2 ?"}, {"role": "assistant", "content": "More than 200 people with inclusion body myopathy 2 have been reported. Most are of Iranian Jewish descent; the condition affects an estimated 1 in 1,500 people in this population. Additionally, at least 15 people in the Japanese population have been diagnosed with this disorder. Inclusion body myopathy 2 has also been found in several other ethnic groups worldwide.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is the outlook for Ataxia ?"}, {"role": "assistant", "content": "The prognosis for individuals with ataxia and cerebellar/spinocerebellar degeneration varies depending on its underlying cause.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for eosinophil peroxidase deficiency ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of eosinophil peroxidase deficiency: - Genetic Testing Registry: Eosinophil peroxidase deficiency - Tulane University Eosinophilic Disorder Center These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Kidney Disease ?"}, {"role": "assistant", "content": "Kidney disease -- also known as chronic kidney disease (CKD) -- occurs when kidneys can no longer remove wastes and extra water from the blood or perform other functions as they should. According to the Centers for Disease Control and Prevention, more than 20 million Americans may have kidney disease. Many more are at risk. (Watch the video to learn more about kidney disease. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.)", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to congenital hepatic fibrosis ?"}, {"role": "assistant", "content": "Syndromes of which congenital hepatic fibrosis is a feature may be caused by changes in many different genes. The gene changes that cause isolated congenital hepatic fibrosis are unknown. Congenital hepatic fibrosis is caused by problems in the development of the portal veins and bile ducts. These problems include malformation of embryonic structures called ductal plates. Each ductal plate is a cylinder of cells surrounding branches of the portal veins. During development before birth, the ductal plates normally develop into the network of bile ducts. In congenital hepatic fibrosis, the development of the ductal plates does not proceed normally, resulting in the persistence of immature bile ducts. Branching of the portal vein network also proceeds abnormally, and excess fibrous tissue develops in the portal tracts. The malformation of the portal veins and bile ducts disrupts the normal flow of blood and bile, which leads to the progressive signs and symptoms of congenital hepatic fibrosis.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Anemia in Chronic Kidney Disease ?"}, {"role": "assistant", "content": "The signs and symptoms of anemia in someone with CKD may include\n \n- weakness - fatigue, or feeling tired - headaches - problems with concentration - paleness - dizziness - difficulty breathing or shortness of breath - chest pain\n \nAnyone having difficulty breathing or with shortness of breath should seek immediate medical care. Anyone who has chest pain should call 911.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What to do for Vesicoureteral Reflux ?"}, {"role": "assistant", "content": "Eating, diet, and nutrition have not been shown to play a role in causing or preventing VUR.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Wilson disease ?"}, {"role": "assistant", "content": "Wilson disease is a rare inherited disorder that is characterized by the accumulation of copper in the body. Because high levels of copper are toxic to tissues and organs, this buildup can lead to damage of the liver, brain and eyes. Signs and symptoms of Wilson disease include chronic liver disease, central nervous system abnormalities, and psychiatric (mental health-related) disturbances. It is caused by a mutation of the ATP7B gene and is inherited in an autosomal recessive manner. Although there is no cure for Wilson disease, therapies exist that aim to reduce or control the amount of copper that accumulates in the body.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is spastic paraplegia type 11 inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is nonsyndromic hearing loss inherited ?"}, {"role": "assistant", "content": "As discussed above, nonsyndromic hearing loss has different patterns of inheritance. Between 75 and 80 percent of cases are inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Usually, each parent of an individual with autosomal recessive hearing loss carries one copy of the mutated gene but does not have hearing loss. Another 20 to 25 percent of nonsyndromic hearing loss has an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the condition. Most people with autosomal dominant hearing loss inherit an altered copy of the gene from a parent who also has hearing loss. Between 1 and 2 percent of cases have an X-linked pattern of inheritance. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes in each cell. Males with X-linked nonsyndromic hearing loss tend to develop more severe hearing loss earlier in life than females who inherit a copy of the same gene mutation. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. Mitochondrial forms of the condition, which result from changes to mtDNA, account for less than 1 percent of all nonsyndromic hearing loss in the United States. These cases are inherited in a mitochondrial pattern, which is also known as maternal inheritance. This pattern of inheritance applies to genes contained in mtDNA. Because egg cells, but not sperm cells, contribute mitochondria to the developing embryo, children can only inherit disorders resulting from mtDNA mutations from their mother. These disorders can appear in every generation of a family and can affect both males and females, but fathers do not pass traits associated with changes in mtDNA to their children. In some cases, hearing loss occurs in people with no history of the condition in their family. These cases are described as sporadic, and the cause of the hearing loss is often unknown. When hearing loss results from environmental factors, it is not inherited.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for craniofacial microsomia ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of craniofacial microsomia: - Children's Hospital and Medical Center of the University of Nebraska - Gene Review: Gene Review: Craniofacial Microsomia Overview - Genetic Testing Registry: Goldenhar syndrome - Seattle Children's Hospital - Virginia Commonwealth University These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is sensorineural deafness and male infertility inherited ?"}, {"role": "assistant", "content": "Sensorineural deafness and male infertility is inherited in an autosomal recessive pattern, which means both copies of chromosome 15 in each cell have a deletion. The parents of an individual with sensorineural deafness and male infertility each carry one copy of the chromosome 15 deletion, but they do not show symptoms of the condition. Males with two chromosome 15 deletions in each cell have sensorineural deafness and infertility. Females with two chromosome 15 deletions in each cell have sensorineural deafness as their only symptom because the CATSPER2 gene deletions affect sperm function, and women do not produce sperm.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to corticosteroid-binding globulin deficiency ?"}, {"role": "assistant", "content": "Mutations in the SERPINA6 gene cause corticosteroid-binding globulin deficiency. The SERPINA6 gene provides instructions for making a protein called corticosteroid-binding globulin (CBG), which is primarily produced in the liver. The CBG protein attaches (binds) to a hormone called cortisol. This hormone has numerous functions, such as maintaining blood sugar levels, protecting the body from stress, and suppressing inflammation. When cortisol is bound to CBG, the hormone is turned off (inactive). Normally, around 80 to 90 percent of the body's cortisol is bound to CBG. When cortisol is needed in the body, CBG delivers the cortisol where it is needed and releases it, causing cortisol to become active. In this manner, CBG regulates the amount of cortisol that is available for use in the body. The amount of total cortisol in the body consists of both bound (inactive) and unbound (active) cortisol. SERPINA6 gene mutations often decrease the CBG protein's ability to bind to cortisol; some severe mutations prevent the production of any CBG protein. With less functional CBG to bind cortisol, people with corticosteroid-binding globulin deficiency usually have increased unbound cortisol levels. Typically, the body decreases cortisol production to compensate, resulting in a reduction in total cortisol. It is unclear how a decrease in CBG protein and total cortisol leads to the signs and symptoms of corticosteroid-binding globulin deficiency. Since the CBG protein is needed to transport cortisol to specific tissues at certain times, it may be that while cortisol is available in the body, the cortisol is not getting to the tissues that require it. A decrease in cortisol may influence widening or narrowing of the blood vessels, contributing to abnormal blood pressure. Some researchers think the features of the disorder may influence each other and that fatigue could be a result of chronic pain rather than a symptom of the disorder itself. There may also be other genetic or environmental factors that influence whether an affected individual is more likely to develop pain or fatigue.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by isovaleric acidemia ?"}, {"role": "assistant", "content": "Isovaleric acidemia is estimated to affect at least 1 in 250,000 people in the United States.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is benign chronic pemphigus inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Immunodeficiency without anhidrotic ectodermal dysplasia ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Immunodeficiency without anhidrotic ectodermal dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Immunodeficiency without anhidrotic ectodermal dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) IgA deficiency - IgG deficiency - Immunodeficiency - Impaired memory B-cell generation - Increased IgM level - Recurrent mycobacterium avium complex infections - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Asbestos-Related Lung Diseases ?"}, {"role": "assistant", "content": "The signs and symptoms of asbestos-related lung diseases vary. They depend on which disease you have and how much it has damaged your lungs. Signs and symptoms may not appear for 10 to 40 or more years after exposure to asbestos.\n \nIf you have pleural plaque, you may not have any signs or symptoms. Pleural effusion may cause pain on one side of the chest. Both conditions often are found with a chest x ray. These conditions may occur earlier than other asbestos-related lung diseases.\n \nThe main symptom of asbestosis is shortness of breath with physical exertion. You also may have a dry cough and feel tired. If your doctor listens to your lungs with a stethoscope, he or she may hear a crackling sound when you breathe in.\n \nThe symptoms of lung cancer may include a worsening cough or a cough that won't go away, trouble breathing, ongoing chest pain, and coughing up blood. Other symptoms of lung cancer include frequent lung infections, fatigue (tiredness), and weight loss without a known cause.\n \nSymptoms of mesothelioma include shortness of breath and chest pain due to pleural effusion.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Birdshot chorioretinopathy ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Birdshot chorioretinopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Birdshot chorioretinopathy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Chorioretinal abnormality - Posterior uveitis - Retinal pigment epithelial atrophy - Visual impairment - Vitritis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Ornithine transcarbamylase deficiency ?"}, {"role": "assistant", "content": "What causes ornithine transcarbamylase (OTC) deficiency? Ornithine transcarbamylase (OTC) deficiency is caused by mutations in the OTC gene. OTC deficiency belongs to a class of genetic diseases called urea cycle disorders. The urea cycle is a sequence of reactions that occurs in liver cells. It processes excess nitrogen, generated when protein is used by the body, to make a compound called urea that is excreted by the kidneys. In OTC deficiency, the enzyme that starts a specific reaction within the urea cycle is damaged or missing. The urea cycle cannot proceed normally, and nitrogen accumulates in the bloodstream in the form of ammonia. Ammonia is especially damaging to the nervous system, so OTC deficiency causes neurological problems as well as eventual damage to the liver.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Glomerular Diseases ?"}, {"role": "assistant", "content": "The two kidneys are bean-shaped organs located just below the rib cage, one on each side of the spine. Everyday, the two kidneys filter about 120 to 150 quarts of blood to produce about 1 to 2 quarts of urine, composed of wastes and extra fluid.\n \nBlood enters the kidneys through arteries that branch inside the kidneys into tiny clusters of looping blood vessels. Each cluster is called a glomerulus, which comes from the Greek word meaning filter. The plural form of the word is glomeruli. There are approximately 1 million glomeruli, or filters, in each kidney. The glomerulus is attached to the opening of a small fluid-collecting tube called a tubule. Blood is filtered in the glomerulus, and extra fluid and wastes pass into the tubule and become urine. Eventually, the urine drains from the kidneys into the bladder through larger tubes called ureters.\n \nEach glomerulus-and-tubule unit is called a nephron. Each kidney is composed of about 1 million nephrons. In healthy nephrons, the glomerular membrane that separates the blood vessel from the tubule allows waste products and extra water to pass into the tubule while keeping blood cells and protein in the bloodstream.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) pantothenate kinase-associated neurodegeneration ?"}, {"role": "assistant", "content": "Pantothenate kinase-associated neurodegeneration (formerly called Hallervorden-Spatz syndrome) is a disorder of the nervous system. This condition is characterized by progressive difficulty with movement, typically beginning in childhood. Movement abnormalities include involuntary muscle spasms, rigidity, and trouble with walking that worsens over time. Many people with this condition also develop problems with speech (dysarthria), and some develop vision loss. Additionally, affected individuals may experience a loss of intellectual function (dementia) and psychiatric symptoms such as behavioral problems, personality changes, and depression. Pantothenate kinase-associated neurodegeneration is characterized by an abnormal buildup of iron in certain areas of the brain. A particular change called the eye-of-the-tiger sign, which indicates an accumulation of iron, is typically seen on magnetic resonance imaging (MRI) scans of the brain in people with this disorder. Researchers have described classic and atypical forms of pantothenate kinase-associated neurodegeneration. The classic form usually appears in early childhood, causing severe problems with movement that worsen rapidly. Features of the atypical form appear later in childhood or adolescence and progress more slowly. Signs and symptoms vary, but the atypical form is more likely than the classic form to involve speech defects and psychiatric problems. A condition called HARP (hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration), which was historically described as a separate syndrome, is now considered part of pantothenate kinase-associated neurodegeneration. Although HARP is much rarer than classic pantothenate kinase-associated neurodegeneration, both conditions involve problems with movement, dementia, and vision abnormalities.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Limb-girdle muscular dystrophy ?"}, {"role": "assistant", "content": "How might limb-girdle muscular dystrophy be treated? Unfortunately, no definitive treatments or effective medications for the limb-girdle muscular dystrophies (LGMDs) currently exist. Management depends on each individual and the specific type of LGMD that the individual has. However, a general approach to managing LGMD has been proposed, based on the typical progression and complications of affected individuals. This approach may include: weight control to avoid obesity; physical therapy and stretching exercises to promote mobility and prevent contractures (fixed tightening of the muscles); use of mechanical aids such as canes, walkers, orthotics, and wheelchairs as needed to help ambulation and mobility; monitoring and surgical intervention as needed for orthopedic complications such as foot deformity and scoliosis; monitoring respiratory function and use of respiratory aids when needed; monitoring for evidence of cardiomyopathy in the types of LGMD with known occurrence of cardiac involvement; and social and emotional support and stimulation to maximize a sense of social involvement and productivity, and to reduce the sense of social isolation common in these disorders.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Aceruloplasminemia ?"}, {"role": "assistant", "content": "Aceruloplasminemia is a disorder of iron metabolism. This disorder causes iron to build-up in the body. Signs and symptoms begin in adulthood. People with this disorder tend to develop anemia and diabetes in their 20's. As the condition progresses, movement problems are common, such as tremors, chorea, ataxia, eyelid twitching, and grimacing. Some experience psychiatric problems and dementia in their 40's and 50's. Eye examination may reveal changes in the retina, but these changes typically do not affect vision. Aceruloplasminemia is caused by mutations in the CP gene and are inherited in an autosomal recessive fashion.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Who is at risk for Osteoporosis? ?"}, {"role": "assistant", "content": "Some risk factors for osteoporosis cannot be changed. These include - Gender. Women are at higher risk for osteoporosis than men. They have smaller bones and lose bone more rapidly than men do because of hormone changes that occur after menopause. Therefore, if you are a woman, you are at higher risk for osteoporosis. - Age. Because bones become thinner with age, the older you are, the greater your risk of osteoporosis. - Ethnicity. Caucasian and Asian women are at the highest risk for osteoporosis. This is mainly due to differences in bone mass and density compared with other ethnic groups. African-American and Hispanic women are also at risk, but less so. - Family History. Osteoporosis tends to run in families. If a family member has osteoporosis or breaks a bone, there is a greater chance that you will too. - History of Previous Fracture. People who have had a fracture after the age of 50 are at high risk of having another. Gender. Women are at higher risk for osteoporosis than men. They have smaller bones and lose bone more rapidly than men do because of hormone changes that occur after menopause. Therefore, if you are a woman, you are at higher risk for osteoporosis. Age. Because bones become thinner with age, the older you are, the greater your risk of osteoporosis. Ethnicity. Caucasian and Asian women are at the highest risk for osteoporosis. This is mainly due to differences in bone mass and density compared with other ethnic groups. African-American and Hispanic women are also at risk, but less so. Family History. Osteoporosis tends to run in families. If a family member has osteoporosis or breaks a bone, there is a greater chance that you will too. History of Previous Fracture. People who have had a fracture after the age of 50 are at high risk of having another.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is hereditary sensory and autonomic neuropathy type IE inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Rickets ?"}, {"role": "assistant", "content": "Rickets is a condition that causes children to have soft, weak bones. It usually occurs when children do not get enough vitamin D, which helps growing bones absorb important nutrients. Vitamin D comes from sunlight and food. Skin produces vitamin D in response to the sun's rays. Some foods also contain vitamin D, including fortified dairy products and cereals, and some kinds of fish.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Heart Failure ?"}, {"role": "assistant", "content": "In heart failure, the heart cannot pump enough blood through the body. Heart failure develops over time as the pumping action of the heart gets weaker. Heart failure does not mean that the heart has stopped working or is about to stop working. When the heart is weakened by heart failure, blood and fluid can back up into the lungs and fluid builds up in the feet, ankles, and legs. People with heart failure often experience tiredness and shortness of breath.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for complement factor I deficiency ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of complement factor I deficiency: - MedlinePlus Encyclopedia: Complement These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Progeroid syndrome Petty type ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Progeroid syndrome Petty type? The Human Phenotype Ontology provides the following list of signs and symptoms for Progeroid syndrome Petty type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal dermatoglyphics 90% Abnormality of hair texture 90% Abnormality of the eyelashes 90% Abnormality of the fontanelles or cranial sutures 90% Anonychia 90% Broad forehead 90% Cutis laxa 90% Decreased skull ossification 90% Epicanthus 90% Hypertrichosis 90% Intrauterine growth retardation 90% Lipoatrophy 90% Low-set, posteriorly rotated ears 90% Mandibular prognathia 90% Prematurely aged appearance 90% Reduced number of teeth 90% Sacrococcygeal pilonidal abnormality 90% Shagreen patch 90% Short distal phalanx of finger 90% Short stature 90% Strabismus 90% Thick eyebrow 90% Umbilical hernia 90% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Progressive familial intrahepatic cholestasis type 2 ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Progressive familial intrahepatic cholestasis type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Progressive familial intrahepatic cholestasis type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Cirrhosis - Conjugated hyperbilirubinemia - Death in childhood - Diarrhea - Elevated alkaline phosphatase - Failure to thrive - Fat malabsorption - Hepatocellular carcinoma - Hepatomegaly - Infantile onset - Intermittent jaundice - Intrahepatic cholestasis - Pruritus - Short stature - Splenomegaly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Bile Duct Cancer (Cholangiocarcinoma) ?"}, {"role": "assistant", "content": "Key Points\n - Bile duct cancer is a rare disease in which malignant (cancer) cells form in the bile ducts. - Having colitis or certain liver diseases can increase the risk of bile duct cancer. - Signs of bile duct cancer include jaundice and pain in the abdomen. - Tests that examine the bile ducts and nearby organs are used to detect (find), diagnose, and stage bile duct cancer. - Different procedures may be used to obtain a sample of tissue and diagnose bile duct cancer. - Certain factors affect prognosis (chance of recovery) and treatment options.\n \n \n Bile duct cancer is a rare disease in which malignant (cancer) cells form in the bile ducts.\n A network of tubes, called ducts, connects the liver, gallbladder, and small intestine. This network begins in the liver where many small ducts collect bile (a fluid made by the liver to break down fats during digestion). The small ducts come together to form the right and left hepatic ducts, which lead out of the liver. The two ducts join outside the liver and form the common hepatic duct. The cystic duct connects the gallbladder to the common hepatic duct. Bile from the liver passes through the hepatic ducts, common hepatic duct, and cystic duct and is stored in the gallbladder. When food is being digested, bile stored in the gallbladder is released and passes through the cystic duct to the common bile duct and into the small intestine. Bile duct cancer is also called cholangiocarcinoma. There are two types of bile duct cancer: - Intrahepatic bile duct cancer : This type of cancer forms in the bile ducts inside the liver. Only a small number of bile duct cancers are intrahepatic. Intrahepatic bile duct cancers are also called intrahepatic cholangiocarcinomas. - Extrahepatic bile duct cancer : The extrahepatic bile duct is made up of the hilum region and the distal region. Cancer can form in either region: - Perihilar bile duct cancer: This type of cancer is found in the hilum region, the area where the right and left bile ducts exit the liver and join to form the common hepatic duct. Perihilar bile duct cancer is also called a Klatskin tumor or perihilar cholangiocarcinoma. - Distal extrahepatic bile duct cancer: This type of cancer is found in the distal region. The distal region is made up of the common bile duct which passes through the pancreas and ends in the small intestine. Distal extrahepatic bile duct cancer is also called extrahepatic cholangiocarcinoma.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Noonan syndrome 6 ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Noonan syndrome 6? The Human Phenotype Ontology provides the following list of signs and symptoms for Noonan syndrome 6. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Asymmetry of the thorax 100% Cryptorchidism 100% Curly hair 100% Generalized hypotonia 100% Hyperkeratosis 100% Hypertelorism 100% Low-set ears 100% Short stature 100% Webbed neck 100% Hypertrophic cardiomyopathy 3 of 4 Macrocephaly 3 of 4 Pulmonic stenosis 3 of 4 Intellectual disability, mild 2 of 4 Myopia 2 of 4 Delayed speech and language development 1 of 4 The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes 15q11.2 microdeletion ?"}, {"role": "assistant", "content": "What causes a 15q11.2 microdeletion? A 15q11.2 microdeletion may occur randomly for the first time in an affected person (a de novo mutation), or it may be inherited from a parent with the microdeletion. A blood test to look at the parents' chromosomes is needed to find out how the microdeletion occurred. When a 15q11.2 microdeletion occurs as a de novo mutation, it is due to a random error - either during the formation of a parent's egg or sperm cell, or very soon after conception (fertilization of the egg). A parent with the microdeletion has a 50% chance with each pregnancy to pass on the microdeletion. The features of 15q11.2 microdeletion occur because the deleted region of the chromosome contains several genes that are important for normal growth and development. It is not yet clear why there is a large range of features and severity among people with a 15q11.2 microdeletion, or why some people are unaffected.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is microvillus inclusion disease inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Tietz syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Tietz syndrome? The signs and symptoms of Tietz syndrome are usually present at birth and may include: Severe, bilateral (both ears) sensorineural hearing loss Fair skin Light-colored hair Blue eyes The Human Phenotype Ontology provides the following list of signs and symptoms for Tietz syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the anterior chamber 90% Aplasia/Hypoplasia of the eyebrow 90% Generalized hypopigmentation 90% Hypopigmentation of hair 90% Autosomal dominant inheritance - Bilateral sensorineural hearing impairment - Blue irides - Congenital sensorineural hearing impairment - Hypopigmentation of the fundus - White eyebrow - White eyelashes - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for CAV3-related distal myopathy ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of CAV3-related distal myopathy: - Gene Review: Gene Review: Caveolinopathies - Genetic Testing Registry: CAV3-Related Distal Myopathy - Genetic Testing Registry: Distal myopathy, Tateyama type - MedlinePlus Encyclopedia: Electromyography - MedlinePlus Encyclopedia: Muscle Biopsy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) peroxisomal acyl-CoA oxidase deficiency ?"}, {"role": "assistant", "content": "Peroxisomal acyl-CoA oxidase deficiency is a disorder that causes deterioration of nervous system functions (neurodegeneration) beginning in infancy. Newborns with peroxisomal acyl-CoA oxidase deficiency have weak muscle tone (hypotonia) and seizures. They may have unusual facial features, including widely spaced eyes (hypertelorism), a low nasal bridge, and low-set ears. Extra fingers or toes (polydactyly) or an enlarged liver (hepatomegaly) also occur in some affected individuals. Most babies with peroxisomal acyl-CoA oxidase deficiency learn to walk and begin speaking, but they experience a gradual loss of these skills (developmental regression), usually beginning between the ages of 1 and 3. As the condition gets worse, affected children develop exaggerated reflexes (hyperreflexia), increased muscle tone (hypertonia), more severe and recurrent seizures (epilepsy), and loss of vision and hearing. Most children with peroxisomal acyl-CoA oxidase deficiency do not survive past early childhood.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by episodic ataxia ?"}, {"role": "assistant", "content": "Episodic ataxia is uncommon, affecting less than 1 in 100,000 people. Only types 1 and 2 have been identified in more than one family, and type 2 is by far the most common form of the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Primary Hyperparathyroidism ?"}, {"role": "assistant", "content": "High PTH levels trigger the bones to release increased amounts of calcium into the blood, causing blood calcium levels to rise above normal. The loss of calcium from bones may weaken the bones. Also, the small intestine may absorb more calcium from food, adding to the excess calcium in the blood. In response to high blood calcium levels, the kidneys excrete more calcium in the urine, which can lead to kidney stones.\n \nHigh blood calcium levels might contribute to other problems, such as heart disease, high blood pressure, and difficulty with concentration. However, more research is needed to better understand how primary hyperparathyroidism affects the cardiovascular systemthe heart and blood vesselsand the central nervous systemthe brain and spinal cord.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Pseudohypoparathyroidism type 2 ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Pseudohypoparathyroidism type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Pseudohypoparathyroidism type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Elevated circulating parathyroid hormone (PTH) level - Hyperphosphatemia - Hypocalcemia - Pseudohypoparathyroidism - Sporadic - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Who is at risk for Breast Cancer? ?"}, {"role": "assistant", "content": "Risk factors are conditions or agents that increase a person's chances of getting a disease. Here are the most common risk factors for breast cancer. - Personal and family history. A personal history of breast cancer or breast cancer among one or more of your close relatives, such as a sister, mother, or daughter. - Estrogen levels in the body. High estrogen levels over a long time may increase the risk of breast cancer. Estrogen levels are highest during the years a woman is menstruating. - Never being pregnant or having your first child in your mid-30s or later. - Early menstruation. Having your first menstrual period before age 12. - Breast density. Women with very dense breasts have a higher risk of breast cancer than women with low or normal breast density. - Combination hormone replacement therapy/Hormone therapy. Estrogen, progestin, or both may be given to replace the estrogen no longer made by the ovaries in postmenopausal women or women who have had their ovaries removed. This is called hormone replacement therapy. (HRT) or hormone therapy (HT). Combination HRT/HT is estrogen combined with progestin. This type of HRT/HT can increase the risk of breast cancer. - Exposure to radiation. Radiation therapy to the chest for the treatment of cancer can increase the risk of breast cancer, starting 10 years after treatment. Radiation therapy to treat cancer in one breast does not appear to increase the risk of cancer in the other breast. - Obesity. Obesity increases the risk of breast cancer, especially in postmenopausal women who have not used hormone replacement therapy. - Alcohol. Drinking alcohol increases the risk of breast cancer. The level of risk rises as the amount of alcohol consumed rises. - Gaining weight after menopause, especially after natural menopause and/or after age 60. - Race. White women are at greater risk than black women. However, black women diagnosed with breast cancer are more likely to die of the disease. - Inherited gene changes. Women who have inherited certain changes in the genes named BRCA1 and BRCA2 have a higher risk of breast cancer, ovarian cancer and maybe colon cancer. The risk of breast cancer caused by inherited gene changes depends on the type of gene mutation, family history of cancer, and other factors. Men who have inherited certain changes in the BRCA2 gene have a higher risk of breast, prostate and pancreatic cancers, and lymphoma. Five percent to 10 percent of all breast cancers are thought to be inherited. Personal and family history. A personal history of breast cancer or breast cancer among one or more of your close relatives, such as a sister, mother, or daughter. Estrogen levels in the body. High estrogen levels over a long time may increase the risk of breast cancer. Estrogen levels are highest during the years a woman is menstruating. Never being pregnant or having your first child in your mid-30s or later. Early menstruation. Having your first menstrual period before age 12. Breast density. Women with very dense breasts have a higher risk of breast cancer than women with low or normal breast density. Combination hormone replacement therapy/Hormone therapy. Estrogen, progestin, or both may be given to replace the estrogen no longer made by the ovaries in postmenopausal women or women who have had their ovaries removed. This is called hormone replacement therapy. (HRT) or hormone therapy (HT). Combination HRT/HT is estrogen combined with progestin. This type of HRT/HT can increase the risk of breast cancer. Exposure to radiation. Radiation therapy to the chest for the treatment of cancer can increase the risk of breast cancer, starting 10 years after treatment. Radiation therapy to treat cancer in one breast does not appear to increase the risk of cancer in the other breast. Obesity. Obesity increases the risk of breast cancer, especially in postmenopausal women who have not used hormone replacement therapy. Alcohol. Drinking alcohol increases the risk of breast cancer. The level of risk rises as the amount of alcohol consumed rises. Gaining weight after menopause, especially after natural menopause and/or after age 60. Race. White women are at greater risk than black women. However, black women diagnosed with breast cancer are more likely to die of the disease. Inherited gene changes. Women who have inherited certain changes in the genes named BRCA1 and BRCA2 have a higher risk of breast cancer, ovarian cancer and maybe colon cancer. The risk of breast cancer caused by inherited gene changes depends on the type of gene mutation, family history of cancer, and other factors. Men who have inherited certain changes in the BRCA2 gene have a higher risk of breast, prostate and pancreatic cancers, and lymphoma. Five percent to 10 percent of all breast cancers are thought to be inherited. Get information about the BRCA1 and BRCA2 genetic mutations and testing for them. This chart shows what the approximate chances are of a woman getting invasive breast cancer in her lifetime.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Who is at risk for Coronary Heart Disease? ?"}, {"role": "assistant", "content": "In the United States, coronary heart disease (CHD) is a leading cause of death for both men and women. Each year, about 370,000 Americans die from coronary heart disease.\n \nCertain traits, conditions, or habits may raise your risk for CHD. The more risk factors you have, the more likely you are to develop the disease.\n \nYou can control many risk factors, which may help prevent or delay CHD.\n \nMajor Risk Factors\n \nUnhealthy blood cholesterol levels. This includes high LDL cholesterol (sometimes called bad cholesterol) and low HDL cholesterol (sometimes called good cholesterol).\n \nHigh blood pressure. Blood pressure is considered high if it stays at or above 140/90 mmHg over time. If you have diabetes or chronic kidney disease, high blood pressure is defined as 130/80 mmHg or higher. (The mmHg is millimeters of mercurythe units used to measure blood pressure.)\n \nSmoking. Smoking can damage and tighten blood vessels, lead to unhealthy cholesterol levels, and raise blood pressure. Smoking also can limit how much oxygen reaches the body's tissues.\n \nInsulin resistance. This condition occurs if the body can't use its own insulin properly. Insulin is a hormone that helps move blood sugar into cells where it's used for energy. Insulin resistance may lead to diabetes.\n \nDiabetes. With this disease, the body's blood sugar level is too high because the body doesn't make enough insulin or doesn't use its insulin properly.\n \nOverweight or obesity. The terms overweight and obesity refer to body weight thats greater than what is considered healthy for a certain height.\n \nMetabolic syndrome. Metabolic syndrome is the name for a group of risk factors that raises your risk for CHD and other health problems, such as diabetes and stroke.\n \nLack of physical activity. Being physically inactive can worsen other risk factors for CHD, such as unhealthy blood cholesterol levels, high blood pressure, diabetes, and overweight or obesity.\n \nUnhealthy diet. An unhealthy diet can raise your risk for CHD. Foods that are high in saturated and trans fats, cholesterol, sodium, and sugar can worsen other risk factors for CHD.\n \nOlder age. Genetic or lifestyle factors cause plaque to build up in your arteries as you age. In men, the risk for coronary heart disease increases starting at age 45. In women, the risk for coronary heart disease increases starting at age 55.\n \nA family history of early coronary heart disease is a risk factor for developing coronary heart disease, specifically if a father or brother is diagnosed before age 55, or a mother or sister is diagnosed before age 65.\n \nAlthough older age and a family history of early heart disease are risk factors, it doesn't mean that youll develop CHD if you have one or both. Controlling other risk factors often can lessen genetic influences and help prevent CHD, even in older adults.\n \nEmerging Risk Factors\n \nResearchers continue to study other possible risk factors for CHD.\n \nHigh levels of a protein called C-reactive protein (CRP) in the blood may raise the risk of CHD and heart attack. High levels of CRP are a sign of inflammation in the body.\n \nInflammation is the body's response to injury or infection. Damage to the arteries' inner walls may trigger inflammation and help plaque grow.\n \nResearch is under way to find out whether reducing inflammation and lowering CRP levels also can reduce the risk of CHD and heart attack.\n \nHigh levels of triglycerides in the blood also may raise the risk of CHD, especially in women. Triglycerides are a type of fat.\n \nOther Risks Related to Coronary Heart Disease\n \nOther conditions and factors also may contribute to CHD, including:\n \nSleep apnea. Sleep apnea is a common disorder in which you have one or more pauses in breathing or shallow breaths while you sleep. Untreated sleep apnea can increase your risk for high blood pressure, diabetes, and even a heart attack or stroke.\n \nStress. Research shows that the most commonly reported \"trigger\" for a heart attack is an emotionally upsetting event, especially one involving anger.\n \nAlcohol. Heavy drinking can damage the heart muscle and worsen other CHD risk factors. Men should have no more than two drinks containing alcohol a day. Women should have no more than one drink containing alcohol a day.\n \nPreeclampsia. This condition can occur during pregnancy. The two main signs of preeclampsia are a rise in blood pressure and excess protein in the urine. Preeclampsia is linked to an increased lifetime risk of heart disease, including CHD, heart attack, heart failure, and high blood pressure.\n \nFor more detailed information, go to the Health Topics Coronary Heart Disease Risk Factors article.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Factor V deficiency ?"}, {"role": "assistant", "content": "Factor V deficiency is an inherited blood disorder that involves abnormal blood clotting (coagulation). This disorder is caused by the deficiency of a blood protein called factor V. The reduced amount of factor V leads to episodes of abnormal bleeding that range from mild to severe. Factor V deficiency is inherited in an autosomal recessive manner, which means that both copies of the F5 gene in each cell have mutations.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for citrullinemia ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of citrullinemia: - Baby's First Test: Citrullinemia, Type I - Baby's First Test: Citrullinemia, Type II - Gene Review: Gene Review: Citrin Deficiency - Gene Review: Gene Review: Citrullinemia Type I - Gene Review: Gene Review: Urea Cycle Disorders Overview - Genetic Testing Registry: Citrullinemia type I - Genetic Testing Registry: Citrullinemia type II - Genetic Testing Registry: Neonatal intrahepatic cholestasis caused by citrin deficiency - MedlinePlus Encyclopedia: Hereditary Urea Cycle Abnormality These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Congenital sucrase-isomaltase deficiency ?"}, {"role": "assistant", "content": "How might congenital sucrase-isomaltase deficiency (CSID) be treated? CSID is typically treated by modifying a person's diet to reduce the amount of sucrose. Because many foods contain sucrose and other complex sugars, it can be difficult to completely remove sucrase from the diet. Sucraid is an oral medication containing the enzyme that does not work properly in people with this condition. By taking this medication, those with CSID can eat sucrose-containing foods because this enzyme will break down sucrose. This medication must be taken with each meal or snack.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Human T-cell leukemia virus type 1 ?"}, {"role": "assistant", "content": "What causes human T-cell leukemia virus, type 1? Human T-cell leukemia virus, type 1 (HTLV-1) occurs when a person is infected by the human T-cell leukemia retrovirus. HTLV-1 is spread by blood transfusions, sexual contact and sharing needles. It can also be spread from mother to child during birth or breast-feeding. It is unclear why some people with HTLV-1 develop adult T-cell leukemia (ATL), HTLV-1 associated myelopathy/tropical spastic paraparesis (HAM/TSP) or other medical conditions, while others remain asymptomatic (show no signs or symptoms) their entire lives.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to adiposis dolorosa ?"}, {"role": "assistant", "content": "The cause of adiposis dolorosa is unknown. The condition is thought to have a genetic component because a few families with multiple affected family members have been reported. However, no associated genes have been identified. Several other possible causes of adiposis dolorosa have been suggested, although none have been confirmed. They include the use of medications called corticosteroids, dysfunction of the endocrine system (which produces hormones), or changes in the deposition and breakdown of fat (adipose tissue metabolism). Researchers have also suggested that adiposis dolorosa could be an autoimmune disorder, which occurs when the immune system malfunctions and attacks the body's own tissues and organs. However, there is no firm evidence that the condition is related to abnormal inflammation or other immune system malfunction. It is unknown why adiposis dolorosa usually occurs in people who are overweight or obese, or why the signs and symptoms do not appear until mid-adulthood.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Parkinson's Disease ?"}, {"role": "assistant", "content": "Parkinson's disease is a brain disorder that leads to shaking, stiffness, and difficulty with walking, balance, and coordination. It currently affects about half a million people in the United States, although the numbers may be much higher. Parkinson's disease is both chronic, meaning it lasts for a long time, and progressive, meaning its symptoms grow worse over time. It is not contagious.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Spine Injuries and Disorders ?"}, {"role": "assistant", "content": "Your backbone, or spine, is made up of 26 bone discs called vertebrae. The vertebrae protect your spinal cord and allow you to stand and bend. A number of problems can change the structure of the spine or damage the vertebrae and surrounding tissue. They include - Infections - Injuries - Tumors - Conditions, such as ankylosing spondylitis and scoliosis - Bone changes that come with age, such as spinal stenosis and herniated disks Spinal diseases often cause pain when bone changes put pressure on the spinal cord or nerves. They can also limit movement. Treatments differ by disease, but sometimes they include back braces and surgery.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Glaucoma ?"}, {"role": "assistant", "content": "Glaucoma is a group of diseases that can damage the eye's optic nerve and result in vision loss and blindness. While glaucoma can strike anyone, the risk is much greater for people over 60. How Glaucoma Develops There are several different types of glaucoma. Most of these involve the drainage system within the eye. At the front of the eye there is a small space called the anterior chamber. A clear fluid flows through this chamber and bathes and nourishes the nearby tissues. (Watch the video to learn more about glaucoma. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.) In glaucoma, for still unknown reasons, the fluid drains too slowly out of the eye. As the fluid builds up, the pressure inside the eye rises. Unless this pressure is controlled, it may cause damage to the optic nerve and other parts of the eye and result in loss of vision. Open-angle Glaucoma The most common type of glaucoma is called open-angle glaucoma. In the normal eye, the clear fluid leaves the anterior chamber at the open angle where the cornea and iris meet. When fluid reaches the angle, it flows through a spongy meshwork, like a drain, and leaves the eye. Sometimes, when the fluid reaches the angle, it passes too slowly through the meshwork drain, causing the pressure inside the eye to build. If the pressure damages the optic nerve, open-angle glaucoma -- and vision loss -- may result. There is no cure for glaucoma. Vision lost from the disease cannot be restored. However, there are treatments that may save remaining vision. That is why early diagnosis is important. See this graphic for a quick overview of glaucoma, including how many people it affects, whos at risk, what to do if you have it, and how to learn more. See a glossary of glaucoma terms.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Dandy-Walker Syndrome ?"}, {"role": "assistant", "content": "Dandy-Walker Syndrome is a congenital brain malformation involving the cerebellum (an area of the back of the brain that coordinates movement) and the fluid-filled spaces around it. The key features of this syndrome are an enlargement of the fourth ventricle (a small channel that allows fluid to flow freely between the upper and lower areas of the brain and spinal cord), a partial or complete absence of the area of the brain between the two cerebellar hemispheres (cerebellar vermis), and cyst formation near the lowest part of the skull. An increase in the size and pressure of the fluid spaces surrounding the brain (hydrocephalus) may also be present. The syndrome can appear dramatically or develop unnoticed. Symptoms, which often occur in early infancy, include slow motor development and progressive enlargement of the skull. In older children, symptoms of increased intracranial pressure (pressure within the skull) such as irritability and vomiting, and signs of cerebellar dysfunction such as unsteadiness, lack of muscle coordination, or jerky movements of the eyes may occur. Other symptoms include increased head circumference, bulging at the back of the skull, abnormal breathing problems, and problems with the nerves that control the eyes, face and neck. Dandy-Walker Syndrome is sometimes associated with disorders of other areas of the central nervous system, including absence of the area made up of nerve fibers connecting the two cerebral hemispheres (corpus callosum) and malformations of the heart, face, limbs, fingers and toes.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "what research (or clinical trials) is being done for Pituitary Tumors ?"}, {"role": "assistant", "content": "The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research related to brain tumors, including pituitary tumors, in their laboratories at the NIH and also support research through grants to major medical institutions across the country. Much of this research focuses on finding better ways to prevent, treat, and ultimately cure pituitary tumors.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Andersen-Tawil syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Andersen-Tawil syndrome? Anderson-Tawil syndrome causes episodes of muscle weakness (periodic paralysis), changes in heart rhythm (arrhythmia), and developmental abnormalities. The most common changes affecting the heart are ventricular arrhythmia, which is a disruption in the rhythm of the heart's lower chambers, and long QT syndrome. Long QT syndrome is a heart condition that causes the heart muscle to take longer than usual to recharge between beats. If untreated, the irregular heartbeats can lead to discomfort, fainting, or cardiac arrest. Physical abnormalities associated with Andersen-Tawil syndrome typically affect the head, face, and limbs. These features often include a very small lower jaw (micrognathia), dental abnormalities, low-set ears, widely spaced eyes, and unusual curving of the fingers or toes (clinodactyly). Some affected people also have short stature and an abnormal curvature of the spine (scoliosis). The Human Phenotype Ontology provides the following list of signs and symptoms for Andersen-Tawil syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Specific learning disability 7.5% Antegonial notching of mandible - Autosomal dominant inheritance - Bidirectional ventricular ectopy - Blepharophimosis - Brachydactyly syndrome - Broad forehead - Bulbous nose - Cleft palate - Clinodactyly of the 5th finger - Clinodactyly of the 5th toe - Delayed eruption of permanent teeth - Delayed skeletal maturation - Facial asymmetry - Growth abnormality - High palate - Hypertelorism - Hypoplasia of dental enamel - Hypoplasia of the maxilla - Joint laxity - Low-set ears - Malar flattening - Microcephaly - Oligodontia - Palpitations - Periodic hypokalemic paresis - Persistence of primary teeth - Preauricular pit - Prolonged QT interval - Prominent frontal sinuses - Scapular winging - Scoliosis - Short foot - Short mandibular rami - Short metacarpal - Short metatarsal - Short palm - Short palpebral fissure - Short phalanx of finger - Slender long bone - Small hand - Syncope - Toe syndactyly - Triangular face - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "what research (or clinical trials) is being done for Uterine Sarcoma ?"}, {"role": "assistant", "content": "New types of treatment are being tested in clinical trials.\n Information about clinical trials is available from the NCI website.\n \n \n Patients may want to think about taking part in a clinical trial.\n For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward.\n \n \n Patients can enter clinical trials before, during, or after starting their cancer treatment.\n Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Poland syndrome ?"}, {"role": "assistant", "content": "When is Poland syndrome typically first diagnosed? The severity of Poland syndrome differs from person to person. As a result it is not often diagnosed or reported. Sometimes, a person does not realize they have the condition until puberty, when lopsided (asymmetrical) growth makes it more obvious.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Alzheimer's Disease ?"}, {"role": "assistant", "content": "Medications Can Treat Symptoms There is no known cure for Alzheimer's disease, but there are medicines that can treat symptoms of the disease. Most Alzheimers medicines work best for people in the mild or moderate stages of the disease. For example, they can keep memory loss from getting worse for a time. Other medicines may help behavioral symptoms, such as trouble sleeping or feeling worried or depressed. All of these medicines may have side effects and may not work for everyone. A person with Alzheimer's should be under a doctor's care. He or she may see a primary care doctor or a specialist, such as a neurologist, geriatric psychiatrist, or geriatrician. The doctor can treat the person's physical and behavioral problems, answer questions, and refer the patient and caregiver to other sources of help. Medications for Alzheimers Currently, no treatment can stop Alzheimer's disease. However, four medications are used to treat its symptoms. These medicines may help maintain thinking, memory, and speaking skills for a limited time. They work by regulating certain chemicals in the brain. Most of these medicines work best for people in the early or middle stages of the disease. For people with mild to moderate Alzheimers, donepezil (Aricept), rivastigmine (Exelon), or galantamine (Razadyne) may help. Donepezil is also approved to treat symptoms of moderate to severe Alzheimer's. Another drug, memantine (Namenda), is used to treat symptoms of moderate to severe Alzheimers, although it also has limited effects. All of these medicines have possible side effects, including nausea, vomiting, diarrhea, and loss of appetite. You should report any unusual symptoms to a doctor right away. It is important to follow a doctor's instructions when taking any medication. Scientists are testing many new drugs and other treatments to see if they can help slow, delay, or prevent Alzheimers disease. Learn how Alzheimers medications work, how to take them, and where to find more information. Managing Behavioral Symptoms Certain medicines and other approaches can help control the behavioral symptoms of Alzheimer's disease. These symptoms include sleeplessness, agitation, wandering, anxiety, anger, and depression. Treating these symptoms often makes people with Alzheimers disease more comfortable and makes their care easier for caregivers. See more about medications used to treat behavioral symptoms. Some medicines must be used with caution. Memory Aids Memory aids may help some people who have mild Alzheimers disease with day-to-day living. A calendar, list of daily plans, notes about simple safety measures, and written directions describing how to use common household items can be useful. Help for Caregivers Caring for a person with Alzheimers can have high physical, emotional, and financial costs. The demands of day-to-day care, changing family roles, and difficult decisions about placement in a care facility can be difficult. Sometimes, taking care of the person with Alzheimers makes caregivers feel good because they are providing love and comfort. At other times, it can be overwhelming. Changes in the person can be hard to understand and cope with. Here are some ways for caregivers of people with Alzheimers to get help. - Ask family and friends to help out in specific ways, like making a meal or visiting the person while they take a break. - Join a caregivers support group. - Use home health care, adult day care, and respite services. Ask family and friends to help out in specific ways, like making a meal or visiting the person while they take a break. Join a caregivers support group. Use home health care, adult day care, and respite services. For more information about caring for someone with Alzheimers disease, see Alzheimer's Caregiving.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Primary melanoma of the central nervous system ?"}, {"role": "assistant", "content": "What causes primary melanoma of the central nervous system? Although the exact cause of this condition is unknown, researchers have identified somatic mutations in the the GNAQ gene in 7 of 19 patients (37 percent) with primary malignant melanocytic tumors of the central nervous system. Somatic mutations are not inherited but occur during a person's lifetime. This mutation makes the Gnaq protein constantly active. The same mutation has been identified in approximately half of patients with intraocular melanoma.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for pseudohypoaldosteronism type 2 ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of pseudohypoaldosteronism type 2: - Gene Review: Gene Review: Pseudohypoaldosteronism Type II - Genetic Testing Registry: Pseudohypoaldosteronism, type 2 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Graves' disease ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Graves' disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Graves' disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis - Abnormality of the abdomen - Congestive heart failure - Goiter - Graves disease - Hyperactivity - Hyperhidrosis - Hyperreflexia - Irritability - Muscle weakness - Onycholysis - Polyphagia - Pretibial myxedema - Proptosis - Weight loss - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by rapid-onset dystonia parkinsonism ?"}, {"role": "assistant", "content": "Rapid-onset dystonia parkinsonism appears to be a rare disorder, although its prevalence is unknown. It has been diagnosed in individuals and families from the United States, Europe, and Korea.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Cytomegalovirus Infections ?"}, {"role": "assistant", "content": "Cytomegalovirus (CMV) is a virus found around the world. It is related to the viruses that cause chickenpox and infectious mononucleosis (mono). Between 50 percent and 80 percent of adults in the United States have had a CMV infection by age 40. Once CMV is in a person's body, it stays there for life. CMV is spread through close contact with body fluids. Most people with CMV don't get sick and don't know that they've been infected. But infection with the virus can be serious in babies and people with weak immune systems. If a woman gets CMV when she is pregnant, she can pass it on to her baby. Usually the babies do not have health problems. But some babies can develop lifelong disabilities. A blood test can tell whether a person has ever been infected with CMV. Most people with CMV don't need treatment. If you have a weakened immune system, your doctor may prescribe antiviral medicine. Good hygiene, including proper hand washing, may help prevent infections. Centers for Disease Control and Prevention", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) WAGR syndrome ?"}, {"role": "assistant", "content": "WAGR syndrome is a genetic syndrome in which there is a predisposition to several conditions, including certain malignancies, distinctive eye abnormalities, and/or mental retardation. WAGR is an acronym for Wilms tumor, Aniridia, Genitourinary anomalies (such as undescended testicles or hypospadias in males, or internal genital or urinary anomalies in females), mental Retardation syndrome. A combination of two or more of these conditions is usually present in most individuals with WAGR syndrome. The syndrome is due to a microdeletion in the 11p13 region of chromosome 11. In most cases, this genetic change occurs spontaneously during early embryonic development (de novo) for unknown reasons (sporadic). Only rarely is the mutation inherited.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Do you have information about Liver Transplantation"}, {"role": "assistant", "content": "Summary : Your liver is the largest organ inside your body. It helps your body digest food, store energy, and remove poisons. You cannot live without a liver that works. If your liver fails, your doctor may put you on a waiting list for a liver transplant. Doctors do liver transplants when other treatment cannot keep a damaged liver working. During a liver transplantation, the surgeon removes the diseased liver and replaces it with a healthy one. Most transplant livers come from a donor who has died. Sometimes there is a living donor. This is when a healthy person donates part of his or her liver for a specific patient. The most common reason for a transplant in adults is cirrhosis. This is scarring of the liver, caused by injury or long-term disease. The most common reason in children is biliary atresia, a disease of the bile ducts. If you have a transplant, you must take drugs the rest of your life to help keep your body from rejecting the new liver. NIH: National Institute of Diabetes and Digestive and Kidney Diseases", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Congenital Heart Defects ?"}, {"role": "assistant", "content": "A congenital heart defect is a problem with the structure of the heart. It is present at birth. Congenital heart defects are the most common type of birth defect. The defects can involve the walls of the heart, the valves of the heart, and the arteries and veins near the heart. They can disrupt the normal flow of blood through the heart. The blood flow can slow down, go in the wrong direction or to the wrong place, or be blocked completely. Doctors use a physical exam and special heart tests to diagnose congenital heart defects. They often find severe defects during pregnancy or soon after birth. Signs and symptoms of severe defects in newborns include - Rapid breathing - Cyanosis - a bluish tint to the skin, lips, and fingernails - Fatigue - Poor blood circulation Many congenital heart defects cause few or no signs and symptoms. They are often not diagnosed until children are older. Many children with congenital heart defects don't need treatment, but others do. Treatment can include medicines, catheter procedures, surgery, and heart transplants. The treatment depends on the type of the defect, how severe it is, and a child's age, size, and general health. NIH: National Heart, Lung, and Blood Institute", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) juvenile primary osteoporosis ?"}, {"role": "assistant", "content": "Juvenile primary osteoporosis is a skeletal disorder characterized by thinning of the bones (osteoporosis) that begins in childhood. Osteoporosis is caused by a shortage of calcium and other minerals in bones (decreased bone mineral density), which makes the bones brittle and prone to fracture. Affected individuals often have multiple fractures in the long bones of the arms and legs, especially in the regions where new bone forms (metaphyses). They also have fractures in the bones that form the spine (vertebrae), which can cause collapse of the affected vertebrae (compressed vertebrae). Multiple fractures can cause bone pain and lead to movement problems.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Partington syndrome inherited ?"}, {"role": "assistant", "content": "Is Partington syndrome inherited? Partington syndrome is inherited in an X-linked recessive manner. A condition is considered X-linked if the mutated gene that causes the condition is located on the X chromosome, one of the two sex chromosomes (the Y chromosome is the other sex chromosome). Women have two X chromosomes and men have an X and a Y chromosome. In X-linked recessive conditions, men develop the condition if they inherit one gene mutation (they have only one X chromosome). Females are generally only affected if they have two gene mutations (they have two X chromosomes), although some females may rarely have a mild form of the condition if they only inherit one mutation. A woman with an X-linked recessive condition will pass the mutation on to all of her sons and daughters. This means that all of her sons will have the condition and all of her daughters will be carriers. A man with an X-linked recessive condition will pass the mutation to all of his daughters (carriers) and none of his sons.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Okamoto syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Okamoto syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Okamoto syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the eyelashes 90% Abnormality of the hip bone 90% Anteverted nares 90% Cleft palate 90% Cognitive impairment 90% Depressed nasal bridge 90% Downturned corners of mouth 90% Low-set, posteriorly rotated ears 90% Malar flattening 90% Muscular hypotonia 90% Open mouth 90% Proptosis 90% Short nose 90% Abnormality of the cardiac septa 50% Abnormality of the fingernails 50% Epicanthus 50% Long philtrum 50% Synophrys 50% Webbed neck 50% Abnormality of female internal genitalia 7.5% Abnormality of the aortic valve 7.5% Abnormality of the pinna 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Finger syndactyly 7.5% Hypertelorism 7.5% Hypoplastic left heart 7.5% Intestinal malrotation 7.5% Microcephaly 7.5% Patent ductus arteriosus 7.5% Renal hypoplasia/aplasia 7.5% Splenomegaly 7.5% Tented upper lip vermilion 7.5% Urogenital fistula 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is narcolepsy inherited ?"}, {"role": "assistant", "content": "Most cases of narcolepsy are sporadic, which means they occur in people with no history of the disorder in their family. A small percentage of all cases have been reported to run in families; however, the condition does not have a clear pattern of inheritance. First-degree relatives (parents, siblings, and children) of people with narcolepsy with cataplexy have a 40 times greater risk of developing the condition compared with people in the general population.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Glutaric acidemia type I inherited ?"}, {"role": "assistant", "content": "How is glutaric acidemia type I inherited? Glutaric acidemia type I is inherited in an autosomal recessive manner. This means that both copies of the responsible gene in each cell must have mutations for a person to be affected. The parents of a person with an autosomal recessive condition typically each carry one mutated copy of the gene and are referred to as carriers. Carriers of an autosomal recessive condition typically are unaffected and have no signs or symptoms. When two carrier parents have children, each child has a 25% (1 in 4) chance to be affected, a 50% (1 in 2) chance to be an unaffected carrier like each parent, and a 25% chance to be unaffected and not be a carrier.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is carnitine palmitoyltransferase I deficiency inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Leber hereditary optic neuropathy with dystonia ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Leber hereditary optic neuropathy with dystonia? The Human Phenotype Ontology provides the following list of signs and symptoms for Leber hereditary optic neuropathy with dystonia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of eye movement - Athetosis - Bradykinesia - Dementia - Dysarthria - Dysphagia - Dystonia - Increased CSF lactate - Increased serum lactate - Intellectual disability - Leber optic atrophy - Mitochondrial inheritance - Optic atrophy - Peripheral neuropathy - Scoliosis - Skeletal muscle atrophy - Spasticity - Visual loss - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Diverticular Disease ?"}, {"role": "assistant", "content": "Diverticulitis can attack suddenly and cause complications, such as\n \n- an abscessa painful, swollen, pus-filled area just outside the colon wallcaused by infection - a perforationa small tear or hole in the diverticula - peritonitisinflammation of tissues inside the abdomen from pus and stool that leak through a perforation - a fistulaan abnormal passage, or tunnel, between two organs, or between an organ and the outside of the body - intestinal obstructionpartial or total blockage of movement of food or stool through the intestines\n \nThese complications need to be treated to prevent them from getting worse and causing serious illness. In some cases, surgery may be needed.\n \nAbscess, perforation, and peritonitis. Antibiotic treatment of diverticulitis usually prevents or treats an abscess. If the abscess is large or does not clear up with antibiotics, it may need to be drained. After giving the person numbing medication, a radiologist inserts a needle through the skin to the abscess and then drains the fluid through a catheter. The procedure is usually guided by an abdominal ultrasound or a CT scan. Ultrasound uses a device, called a transducer, that bounces safe, painless sound waves off organs to create an image of their structure.\n \nA person with a perforation usually needs surgery to repair the tear or hole. Sometimes, a person needs surgery to remove a small part of the intestine if the perforation cannot be repaired.\n \nA person with peritonitis may be extremely ill, with nausea, vomiting, fever, and severe abdominal tenderness. This condition requires immediate surgery to clean the abdominal cavity and possibly a colon resection at a later date after a course of antibiotics. A blood transfusion may be needed if the person has lost a significant amount of blood. Without prompt treatment, peritonitis can be fatal.\n \nFistula. Diverticulitis-related infection may lead to one or more fistulas. Fistulas usually form between the colon and the bladder, small intestine, or skin. The most common type of fistula occurs between the colon and the bladder. Fistulas can be corrected with a colon resection and removal of the fistula.\n \nIntestinal obstruction. Diverticulitis-related inflammation or scarring caused by past inflammation may lead to intestinal obstruction. If the intestine is completely blocked, emergency surgery is necessary, with possible colon resection. Partial blockage is not an emergency, so the surgery or other procedures to correct it can be scheduled.\n \nWhen urgent surgery with colon resection is necessary for diverticulitis, two procedures may be needed because it is not safe to rejoin the colon right away. During the colon resection, the surgeon performs a temporary colostomy, creating an opening, or stoma, in the abdomen. The end of the colon is connected to the opening to allow normal eating while healing occurs. Stool is collected in a pouch attached to the stoma on the abdominal wall. In the second surgery, several months later, the surgeon rejoins the ends of the colon and closes the stoma.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Nicolaides-Baraitser syndrome inherited ?"}, {"role": "assistant", "content": "Nicolaides-Baraitser syndrome follows an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the disorder. All cases of this condition result from new (de novo) mutations in the gene that occur during the formation of reproductive cells (eggs or sperm) or in early embryonic development. These cases occur in people with no history of the disorder in their family.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Dementia familial British ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Dementia familial British? The Human Phenotype Ontology provides the following list of signs and symptoms for Dementia familial British. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Cerebral amyloid angiopathy - Dementia - Hypertonia - Progressive neurologic deterioration - Rigidity - Spasticity - Tremor - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Creutzfeldt-Jakob disease ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Creutzfeldt-Jakob disease? Creutzfeldt-Jakob disease (CJD) is characterized by rapidly progressive dementia. Initially, patients experience problems with muscular coordination; personality changes, including impaired memory, judgment, and thinking; and impaired vision. People with the disease also may experience insomnia, depression, or unusual sensations. CJD does not cause a fever or other flu-like symptoms. As the illness progresses, the patients mental impairment becomes severe. They often develop involuntary muscle jerks called myoclonus, and they may go blind. They eventually lose the ability to move and speak and enter a coma. Pneumonia and other infections often occur in these patients and can lead to death. There are several known variants of CJD. These variants differ somewhat in the symptoms and course of the disease. For example, a variant form of the disease-called new variant or variant (nv-CJD, v-CJD), described in Great Britain and France-begins primarily with psychiatric symptoms, affects younger patients than other types of CJD, and has a longer than usual duration from onset of symptoms to death. Another variant, called the panencephalopathic form, occurs primarily in Japan and has a relatively long course, with symptoms often progressing for several years. Scientists are trying to learn what causes these variations in the symptoms and course of the disease. The Human Phenotype Ontology provides the following list of signs and symptoms for Creutzfeldt-Jakob disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Increased CSF protein 5% Anxiety - Apathy - Aphasia - Autosomal dominant inheritance - Confusion - Delusions - Dementia - Depression - Extrapyramidal muscular rigidity - Gait ataxia - Hallucinations - Hemiparesis - Irritability - Loss of facial expression - Memory impairment - Myoclonus - Personality changes - Rapidly progressive - Supranuclear gaze palsy - Visual impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Prinzmetal's variant angina ?"}, {"role": "assistant", "content": "What is the treatment for Prinzmetal's variant angina? The goal of treatment is to control chest pain and to prevent heart attack. Nitroglycerin or other nitrate medications may be prescribed to relieve chest pain. Calcium-channel blockers may be chronically needed. These medications widen the blood vessels to improve blood and oxygen flow. Medications may also include beta-blockers; however, in some individuals, beta-blockers may be harmful.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by aniridia ?"}, {"role": "assistant", "content": "Aniridia occurs in 1 in 50,000 to 100,000 newborns worldwide.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) central core disease ?"}, {"role": "assistant", "content": "Central core disease is a disorder that affects muscles used for movement (skeletal muscles). This condition causes muscle weakness that ranges from almost unnoticeable to very severe. Most people with central core disease experience persistent, mild muscle weakness that does not worsen with time. This weakness affects the muscles near the center of the body (proximal muscles), particularly muscles in the upper legs and hips. Muscle weakness causes affected infants to appear \"floppy\" and can delay the development of motor skills such as sitting, standing, and walking. In severe cases, affected infants experience profoundly weak muscle tone (hypotonia) and serious or life-threatening breathing problems. Central core disease is also associated with skeletal abnormalities such as abnormal curvature of the spine (scoliosis), hip dislocation, and joint deformities called contractures that restrict the movement of certain joints. Many people with central core disease also have an increased risk of developing a severe reaction to certain drugs used during surgery and other invasive procedures. This reaction is called malignant hyperthermia. Malignant hyperthermia occurs in response to some anesthetic gases, which are used to block the sensation of pain, and with a particular type of muscle relaxant. If given these drugs, people at risk for malignant hyperthermia may experience muscle rigidity, breakdown of muscle fibers (rhabdomyolysis), a high fever, increased acid levels in the blood and other tissues (acidosis), and a rapid heart rate. The complications of malignant hyperthermia can be life-threatening unless they are treated promptly. Central core disease gets its name from disorganized areas called cores, which are found in the center of muscle fibers in many affected individuals. These abnormal regions can only be seen under a microscope. Although the presence of cores can help doctors diagnose central core disease, it is unclear how they are related to muscle weakness and the other features of this condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Apert syndrome ?"}, {"role": "assistant", "content": "Apert syndrome is a genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. In addition, a varied number of fingers and toes are fused together (syndactyly). Many of the characteristic facial features of Apert syndrome result from the premature fusion of the skull bones. The head is unable to grow normally, which leads to a sunken appearance in the middle of the face, bulging and wide-set eyes, a beaked nose, and an underdeveloped upper jaw leading to crowded teeth and other dental problems. Shallow eye sockets can cause vision problems. Early fusion of the skull bones also affects the development of the brain, which can disrupt intellectual development. Cognitive abilities in people with Apert syndrome range from normal to mild or moderate intellectual disability. Individuals with Apert syndrome have webbed or fused fingers and toes. The severity of the fusion varies; at a minimum, three digits on each hand and foot are fused together. In the most severe cases, all of the fingers and toes are fused. Less commonly, people with this condition may have extra fingers or toes (polydactyly). Additional signs and symptoms of Apert syndrome can include hearing loss, unusually heavy sweating (hyperhidrosis), oily skin with severe acne, patches of missing hair in the eyebrows, fusion of spinal bones in the neck (cervical vertebrae), and recurrent ear infections that may be associated with an opening in the roof of the mouth (a cleft palate).", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by progressive pseudorheumatoid dysplasia ?"}, {"role": "assistant", "content": "PPRD has been estimated to occur in approximately 1 per million people in the United Kingdom. The condition is thought to be more common in Turkey and the Middle East, although its prevalence in these regions is unknown. The condition in all regions is likely underdiagnosed because it is often misdiagnosed as juvenile rheumatoid arthritis.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Foodborne Illnesses ?"}, {"role": "assistant", "content": "To diagnose foodborne illnesses, health care providers ask about symptoms, foods and beverages recently consumed, and medical history. Health care providers will also perform a physical examination to look for signs of illness.\n \nDiagnostic tests for foodborne illnesses may include a stool culture, in which a sample of stool is analyzed in a laboratory to check for signs of infections or diseases. A sample of vomit or a sample of the suspected food, if available, may also be tested. A health care provider may perform additional medical tests to rule out diseases and disorders that cause symptoms similar to the symptoms of foodborne illnesses.\n \nIf symptoms of foodborne illnesses are mild and last only a short time, diagnostic tests are usually not necessary.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Dehydrated hereditary stomatocytosis ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Dehydrated hereditary stomatocytosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Dehydrated hereditary stomatocytosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cholelithiasis 5% Hemoglobinuria 5% Hepatitis 5% Hepatomegaly 5% Increased serum ferritin 5% Jaundice 5% Pallor 5% Splenomegaly 5% Autosomal dominant inheritance - Exercise-induced hemolysis - Increased red cell hemolysis by shear stress - Reticulocytosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) 6q24-related transient neonatal diabetes mellitus ?"}, {"role": "assistant", "content": "6q24-related transient neonatal diabetes mellitus is a type of diabetes that occurs in infants. This form of diabetes is characterized by high blood sugar levels (hyperglycemia) resulting from a shortage of the hormone insulin. Insulin controls how much glucose (a type of sugar) is passed from the blood into cells for conversion to energy. People with 6q24-related transient neonatal diabetes mellitus experience very slow growth before birth (severe intrauterine growth retardation). Affected infants have hyperglycemia and an excessive loss of fluids (dehydration), usually beginning in the first week of life. Signs and symptoms of this form of diabetes are transient, which means that they gradually lessen over time and generally disappear between the ages of 3 months and 18 months. Diabetes may recur, however, especially during childhood illnesses or pregnancy. Up to half of individuals with 6q24-related transient neonatal diabetes mellitus develop permanent diabetes mellitus later in life. Other features of 6q24-related transient neonatal diabetes mellitus that occur in some affected individuals include an unusually large tongue (macroglossia); a soft out-pouching around the belly-button (an umbilical hernia); malformations of the brain, heart, or kidneys; weak muscle tone (hypotonia); deafness; and developmental delay.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) 2-methyl-3-hydroxybutyric aciduria ?"}, {"role": "assistant", "content": "2-methyl-3-hydroxybutyric aciduria is an inherited disorder in which the body cannot effectively process the amino acid isoleucine. Signs and symptoms of this condition usually develop in infancy or early childhood and include metabolic acidosis, hypoglycemia, hypotonia, seizures, movement problems, retinal degeneration, and hearing loss. Affected males have severe neurodegeneration with loss of developmental milestones, whereas females have mild to moderate developmental delay. 2-methyl-3-hydroxybutyric aciduria is caused by mutations in the HSD17B10 gene; it has an X-linked dominant pattern of inheritance.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) oculodentodigital dysplasia ?"}, {"role": "assistant", "content": "Oculodentodigital dysplasia is a condition that affects many parts of the body, particularly the eyes (oculo-), teeth (dento-), and fingers (digital). Common features in people with this condition are small eyes (microphthalmia) and other eye abnormalities that can lead to vision loss. Affected individuals also frequently have tooth abnormalities, such as small or missing teeth, weak enamel, multiple cavities, and early tooth loss. Other common features of this condition include a thin nose and webbing of the skin (syndactyly) between the fourth and fifth fingers. Less common features of oculodentodigital dysplasia include sparse hair growth (hypotrichosis), brittle nails, an unusual curvature of the fingers (camptodactyly), syndactyly of the toes, small head size (microcephaly), and an opening in the roof of the mouth (cleft palate). Some affected individuals experience neurological problems such as a lack of bladder or bowel control, difficulty coordinating movements (ataxia), abnormal muscle stiffness (spasticity), hearing loss, and impaired speech (dysarthria). A few people with oculodentodigital dysplasia also have a skin condition called palmoplantar keratoderma. Palmoplantar keratoderma causes the skin on the palms and the soles of the feet to become thick, scaly, and calloused. Some features of oculodentodigital dysplasia are evident at birth, while others become apparent with age.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Waardenburg syndrome type 3 ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Waardenburg syndrome type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Waardenburg syndrome type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Blepharophimosis 90% Finger syndactyly 90% Hearing impairment 90% Limitation of joint mobility 90% Microcephaly 90% Narrow nasal bridge 90% Synostosis of carpal bones 90% Tented upper lip vermilion 90% Thick eyebrow 90% Atelectasis 50% Hypopigmentation of hair 50% Telecanthus 50% Acrocyanosis 7.5% Atria septal defect 7.5% Camptodactyly of finger 7.5% Cognitive impairment 7.5% Hypertonia 7.5% Tracheomalacia 7.5% Aganglionic megacolon - Autosomal dominant contiguous gene syndrome - Autosomal recessive inheritance - Blue irides - Brachydactyly syndrome - Carpal synostosis - Clinodactyly - Cutaneous finger syndactyly - Heterochromia iridis - Hypopigmented skin patches - Intellectual disability - Mandibular prognathia - Partial albinism - Premature graying of hair - Prominent nasal bridge - Scapular winging - Sensorineural hearing impairment - Spastic paraplegia - Synophrys - Variable expressivity - White forelock - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Multiple system atrophy ?"}, {"role": "assistant", "content": "Multiple system atrophy (MSA) is a progressive neurodegenerative disorder characterized by symptoms of autonomic nervous system failure such as fainting spells and bladder control problems, combined with motor control symptoms such as tremor, rigidity, and loss of muscle coordination. MSA affects both men and women primarily in their 50s. The disease tends to advance rapidly over the course of 9 to 10 years, with progressive loss of motor skills, eventual confinement to bed, and death. The cause of multiple system atrophy is unknown, although environmental toxins, trauma, and genetic factors have been suggested. Most cases are sporadic, meaning they occur at random. A possible risk factor for the disease is variations in the synuclein gene SCNA, which provides instructions for the production of alpha-synuclein. A characteristic feature of MSA is the accumulation of the protein alpha-synuclein in glia, the cells that support nerve cells in the brain. These deposits of alpha-synuclein particularly occur in oligodendroglia, a type of cell that makes myelin (a coating on nerve cells that lets them conduct electrical signals rapidly). This protein also accumulates in Parkinsons disease, but in nerve cells. Because they both have a buildup of alpha-synuclein in cells, MSA and Parkinsons disease are sometimes referred to as synucleinopathies. There is no cure for this condition, and there is no known way to prevent the disease from getting worse. The goal of treatment is to control symptoms.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Lung adenocarcinoma ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Lung adenocarcinoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Lung adenocarcinoma. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Alveolar cell carcinoma - Autosomal recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for FG syndrome ?"}, {"role": "assistant", "content": "How might FG syndrome be treated? Treatment is aimed at addressing the individual symptoms present in each case. This often involves care by a team of providers which may include pediatricians, neurologists, cardiologists, surgeons, gastroenterologists, and psychologists. Early intervention and special education services should be initiated as soon as possible so that each child can reach his fullest potential. GeneReviews provides a detailed list of management strategies.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) X-linked spondyloepiphyseal dysplasia tarda ?"}, {"role": "assistant", "content": "X-linked spondyloepiphyseal dysplasia tarda is a condition that impairs bone growth and occurs almost exclusively in males. The name of the condition indicates that it affects the bones of the spine (spondylo-) and the ends (epiphyses) of long bones in the arms and legs. \"Tarda\" indicates that signs and symptoms of this condition are not present at birth, but appear later in childhood, typically between ages 6 and 10. Males with X-linked spondyloepiphyseal dysplasia tarda have skeletal abnormalities and short stature. Affected boys grow steadily until late childhood, when their growth slows. Male adult height ranges from 4 feet 10 inches to 5 feet 6 inches. Individuals with X-linked spondyloepiphyseal dysplasia tarda have a short trunk and neck, and their arms appear disproportionately long. Impaired growth of the spinal bones (vertebrae) causes the short stature seen in this disorder. The spinal abnormalities include flattened vertebrae (platyspondyly) with hump-shaped bulges, progressive thinning of the discs between vertebrae, and an abnormal curvature of the spine (scoliosis or kyphosis). Other skeletal features of X-linked spondyloepiphyseal dysplasia tarda include an abnormality of the hip joint that causes the upper leg bones to turn inward (coxa vara); a broad, barrel-shaped chest; and decreased mobility of the elbow and hip joints. Arthritis often develops in early adulthood, typically affecting the hip joints and spine.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Heart Failure ?"}, {"role": "assistant", "content": "Heart failure is caused by other diseases and conditions that damage the heart muscle. It is most commonly caused by coronary artery disease, including heart attack. Diabetes and high blood pressure also contribute to heart failure risk. People who have had a heart attack are at high risk of developing heart failure.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to dihydropyrimidine dehydrogenase deficiency ?"}, {"role": "assistant", "content": "Dihydropyrimidine dehydrogenase deficiency is caused by mutations in the DPYD gene. This gene provides instructions for making an enzyme called dihydropyrimidine dehydrogenase, which is involved in the breakdown of molecules called uracil and thymine. Uracil and thymine are pyrimidines, which are one type of nucleotide. Nucleotides are building blocks of DNA, its chemical cousin RNA, and molecules such as ATP and GTP that serve as energy sources in the cell. Mutations in the DPYD gene result in a lack (deficiency) of functional dihydropyrimidine dehydrogenase. Dihydropyrimidine dehydrogenase deficiency interferes with the breakdown of uracil and thymine, and results in excess quantities of these molecules in the blood, urine, and the fluid that surrounds the brain and spinal cord (cerebrospinal fluid). It is unclear how the excess uracil and thymine are related to the specific signs and symptoms of dihydropyrimidine dehydrogenase deficiency. Mutations that result in the absence (complete deficiency) of dihydropyrimidine dehydrogenase generally lead to more severe signs and symptoms than do mutations that lead to a partial deficiency of this enzyme. Because fluoropyrimidine drugs are also broken down by the dihydropyrimidine dehydrogenase enzyme, deficiency of this enzyme leads to the drug buildup that causes fluoropyrimidine toxicity.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is nonbullous congenital ichthyosiform erythroderma inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Osteomesopyknosis ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Osteomesopyknosis? Osteomesopyknosis may cause chronic, low-grade back pain in the thoracic (middle) and lumbar (lower) regions. It is considered a mild form of osteosclerosis and is usually found in young adults or teenagers. Height and intellect are not affected. Life expectancy in affected people is normal. There are cases of association with other findings such as ovarian sclerosis and lymphoma; however, it is uncertain whether they have been coincidental or features of the disorder. The Human Phenotype Ontology provides the following list of signs and symptoms for Osteomesopyknosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Increased bone mineral density 90% Abnormal form of the vertebral bodies 50% Kyphosis 50% Scoliosis 50% Abnormal cortical bone morphology 7.5% Abnormality of metabolism/homeostasis 7.5% Autosomal dominant inheritance - Infertility - Low back pain - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Muscular dystrophy, congenital, merosin-positive ?"}, {"role": "assistant", "content": "The congenital muscle dystrophies are currently classified according to the genetic defects. Historically, congenital muscular dystrophies were classified in two broad groups: Classic CMD (which included the Merosin-deficient CMD and the Merosin-positive CMD) and the CMD with central nervous system (CNS) abnormalities (Fukuyama CMD, muscle-eye-brain disease and Walker-Warburg syndrome). Therefore, merosin-positive congenital muscle dystrophy (CMD) is now considered an old term which refers to a group of diseases without structural brain abnormalities that are caused by a variety of gene mutations, resulting in protein defects that do not affect the merosin protein. It usually has a milder phenotype than the merosin-negative CMD dystrophy group and includes, among others: Classic CMD without distinguishing features Rigid spine syndrome associated with mutations in the selenoprotein N1 gene (SEPN1) CMD with hyperextensible distal joints (Ullrich type) CMD with intellectual disability or sensory abnormalities. The pattern of muscle weakness and wasting in the patients within this group of congenital muscular dystrophy conditions is worse in the proximal upper limb-girdle and trunk muscles. Lower limb muscles may be mildly involved. Muscle biopsy shows a dystrophic pattern with normal staining for dystrophin, laminin alpha-2 of merosin and the sarcoglycans.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to triple A syndrome ?"}, {"role": "assistant", "content": "Mutations in the AAAS gene cause triple A syndrome. This gene provides instructions for making a protein called ALADIN whose function is not well understood. Within cells, ALADIN is found in the nuclear envelope, the structure that surrounds the nucleus and separates it from the rest of the cell. Based on its location, ALADIN is thought to be involved in the movement of molecules into and out of the nucleus. Mutations in the AAAS gene change the structure of ALADIN in different ways; however, almost all mutations prevent this protein from reaching its proper location in the nuclear envelope. The absence of ALADIN in the nuclear envelope likely disrupts the movement of molecules across this membrane. Researchers suspect that DNA repair proteins may be unable to enter the nucleus if ALADIN is missing from the nuclear envelope. DNA damage that is not repaired can cause the cell to become unstable and lead to cell death. Although the nervous system is particularly vulnerable to DNA damage, it remains unknown exactly how mutations in the AAAS gene lead to the signs and symptoms of triple A syndrome. Some individuals with triple A syndrome do not have an identified mutation in the AAAS gene. The genetic cause of the disorder is unknown in these individuals.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Abetalipoproteinemia inherited ?"}, {"role": "assistant", "content": "How is abetalipoproteinemia inherited? Abetalipoproteinemia is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has a: 25% (1 in 4) chance to be affected 50% (1 in 2) chance to be an unaffected carrier like each parent 25% chance to be unaffected and not be a carrier", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Erdheim-Chester disease ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Erdheim-Chester disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Erdheim-Chester disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of epiphysis morphology 90% Abnormality of temperature regulation 90% Abnormality of the genital system 90% Abnormality of the metaphyses 90% Bone pain 90% Diabetes insipidus 90% Hyperhidrosis 90% Increased bone mineral density 90% Multiple lipomas 90% Osteolysis 90% Osteomyelitis 90% Proptosis 90% Weight loss 90% Abdominal pain 50% Abnormality of the aortic valve 50% Joint swelling 50% Abnormality of the pericardium 7.5% Abnormality of the pleura 7.5% Anemia 7.5% Aplasia/Hypoplasia of the cerebellum 7.5% Aseptic necrosis 7.5% Congestive heart failure 7.5% Hyperreflexia 7.5% Incoordination 7.5% Nausea and vomiting 7.5% Neurological speech impairment 7.5% Nystagmus 7.5% Ptosis 7.5% Pulmonary fibrosis 7.5% Renal insufficiency 7.5% Respiratory insufficiency 7.5% Skin rash 7.5% Visual impairment 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What to do for Solitary Kidney ?"}, {"role": "assistant", "content": "People with a solitary kidney do not need to eat a special diet. However, people with reduced kidney function may need to make changes to their diet to slow the progression of kidney disease. More information about recommended dietary changes is provided in the NIDDK health topics, Nutrition for Early Chronic Kidney Disease in Adults and Nutrition for Advanced Chronic Kidney Disease in Adults, and on the National Kidney Disease Education Program website. People should talk with their health care provider about what diet is right for them.\n \nControlling Blood Pressure\n \nPeople can control their blood pressure by not smoking, eating a healthy diet, and taking certain medications. Medications that lower blood pressure can also significantly slow the progression of kidney disease. Two types of blood pressurelowering medications, angiotensin-converting enzyme (ACE) inhibitors and angiotensin receptor blockers (ARBs), have proven effective in slowing the progression of kidney disease. Many people require two or more medications to control their blood pressure. In addition to an ACE inhibitor or ARB, a diuretica medication that helps the kidneys remove fluid from the bloodmay be prescribed. Beta-blockers, calcium channel blockers, and other blood pressure medications may also be needed.\n \nPreventing Injury\n \nFor people with a solitary kidney, loss of the remaining working kidney results in the need for dialysis or kidney transplant. People should make sure their health care providers know they have a solitary kidney to prevent injury from medications or medical procedures. People who participate in certain sports may be more likely to injure the kidney; this risk is of particular concern with children, as they are more likely to play sports. The American Academy of Pediatrics recommends individual assessment for contact, collision, and limited-contact sports. Protective equipment may reduce the chance of injury to the remaining kidney enough to allow participation in most sports, provided that such equipment remains in place during activity. Health care providers, parents, and patients should consider the risks of any activity and decide whether the benefits outweigh those risks.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) giant axonal neuropathy ?"}, {"role": "assistant", "content": "Giant axonal neuropathy is an inherited condition involving dysfunction of a specific type of protein in nerve cells (neurons). The protein is essential for normal nerve function because it forms neurofilaments. Neurofilaments make up a structural framework that helps to define the shape and size of the neurons. This condition is characterized by abnormally large and dysfunctional axons, which are the specialized extensions of nerve cells that are required for the transmission of nerve impulses. Giant axonal neuropathy generally appears in infancy or early childhood. It progresses slowly as neuronal injury becomes more severe. Signs of giant axonal neuropathy usually begin in the peripheral nervous system, which governs movement and sensation in the arms, legs, and other parts of the body. Most individuals with this disorder first have problems with walking. Later they may lose sensation, coordination, strength, and reflexes in their limbs. Hearing and visual problems may also occur. Extremely kinky hair (as compared to others in the family) is characteristic of giant axonal neuropathy, occurring in almost all affected people. As the disorder progresses, the brain and spinal cord (central nervous system) may become involved, causing a gradual decline in mental function, loss of control of body movement, and seizures.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Leg Injuries and Disorders ?"}, {"role": "assistant", "content": "Your legs are made up of bones, blood vessels, muscles, and other connective tissue. They are important for motion and standing. Playing sports, running, falling, or having an accident can damage your legs. Common leg injuries include sprains and strains, joint dislocations, and fractures. These injuries can affect the entire leg, or just the foot, ankle, knee, or hip. Certain diseases also lead to leg problems. For example, knee osteoarthritis, common in older people, can cause pain and limited motion. Problems in your veins in your legs can lead to varicose veins or deep vein thrombosis.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is popliteal pterygium syndrome inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Retinal Disorders ?"}, {"role": "assistant", "content": "The retina is a layer of tissue in the back of your eye that senses light and sends images to your brain. In the center of this nerve tissue is the macula. It provides the sharp, central vision needed for reading, driving and seeing fine detail. Retinal disorders affect this vital tissue. They can affect your vision, and some can be serious enough to cause blindness. Examples are - Macular degeneration - a disease that destroys your sharp, central vision - Diabetic eye disease - Retinal detachment - a medical emergency, when the retina is pulled away from the back of the eye - Retinoblastoma - cancer of the retina. It is most common in young children. - Macular pucker - scar tissue on the macula - Macular hole - a small break in the macula that usually happens to people over 60 - Floaters - cobwebs or specks in your field of vision NIH: National Eye Institute", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Cerebellar degeneration inherited ?"}, {"role": "assistant", "content": "Is cerebellar degeneration inherited? Cerebellar degeneration is associated with a variety of inherited and non-inherited conditions. One example of an inherited form of cerebellar degeneration is spinocerebellar ataxia (SCA), which refers to a group of conditions characterized by degenerative changes of the cerebellum, brain stem, and spinal cord. Depending on the type, SCA can be inherited in an autosomal dominant, autosomal recessive, or X-linked manner. Other complex conditions such as multiple sclerosis and multisystem atrophy are also associated with cerebellar degeneration. These conditions are likely caused by the interaction of multiple genetic and environmental factors. Although complex conditions are not passed directly from parent to child, reports of familial forms exist. This suggests that a genetic susceptibility to these conditions can run in families. Many causes of cerebellar degeneration are acquired (non-genetic and non-inherited) including strokes, transmissible spongiform encephalopathies, chronic alcohol abuse and paraneoplastic disorders.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is familial osteochondritis dissecans inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Varicella virus antenatal infection ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Varicella virus antenatal infection? The Human Phenotype Ontology provides the following list of signs and symptoms for Varicella virus antenatal infection. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Atypical scarring of skin 90% Intrauterine growth retardation 90% Aplasia/Hypoplasia affecting the eye 50% Cataract 50% Cerebral cortical atrophy 50% Cognitive impairment 50% Microcephaly 50% Micromelia 50% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is cytochrome P450 oxidoreductase deficiency inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Kasznica Carlson Coppedge syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Kasznica Carlson Coppedge syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kasznica Carlson Coppedge syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the palate 90% Hearing abnormality 90% Myelomeningocele 90% Ventricular septal defect 50% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for hereditary diffuse gastric cancer ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of hereditary diffuse gastric cancer: - American Cancer Society: How is Stomach Cancer Diagnosed? - Gene Review: Gene Review: Hereditary Diffuse Gastric Cancer - Genetic Testing Registry: Hereditary diffuse gastric cancer - MedlinePlus Encyclopedia: Gastric Cancer - Memorial Sloan-Kettering Cancer Center: Early Onset and Familial Gastric Cancer Registry - National Cancer Institute: Gastric Cancer Treatment Option Overview These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for High Blood Cholesterol ?"}, {"role": "assistant", "content": "There are two main ways to lower your cholesterol: Therapeutic Lifestyle Changes and medicines.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Autoimmune Hepatitis ?"}, {"role": "assistant", "content": "Autoimmune diseases are disorders in which the body's immune system attacks the body's own cells and organs with proteins called autoantibodies; this process is called autoimmunity.\n \nThe body's immune system normally makes large numbers of proteins called antibodies to help the body fight off infections. In some cases, however, the body makes autoantibodies. Certain environmental triggers can lead to autoimmunity. Environmental triggers are things originating outside the body, such as bacteria, viruses, toxins, and medications.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is hypochondroplasia inherited ?"}, {"role": "assistant", "content": "Hypochondroplasia is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most people with hypochondroplasia have average-size parents; these cases result from a new mutation in the FGFR3 gene. In the remaining cases, people with hypochondroplasia have inherited an altered FGFR3 gene from one or two affected parents. Individuals who inherit two altered copies of this gene typically have more severe problems with bone growth than those who inherit a single FGFR3 mutation.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Birt-Hogg-Dub syndrome ?"}, {"role": "assistant", "content": "Birt-Hogg-Dub syndrome is a rare disorder that affects the skin and lungs and increases the risk of certain types of tumors. Its signs and symptoms vary among affected individuals. Birt-Hogg-Dub syndrome is characterized by multiple noncancerous (benign) skin tumors, particularly on the face, neck, and upper chest. These growths typically first appear in a person's twenties or thirties and become larger and more numerous over time. Affected individuals also have an increased chance of developing cysts in the lungs and an abnormal accumulation of air in the chest cavity (pneumothorax) that may result in the collapse of a lung. Additionally, Birt-Hogg-Dub syndrome is associated with an elevated risk of developing cancerous or noncancerous kidney tumors. Other types of cancer have also been reported in affected individuals, but it is unclear whether these tumors are actually a feature of Birt-Hogg-Dub syndrome.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Dysequilibrium syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Dysequilibrium syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Dysequilibrium syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Gait disturbance 90% Hyperreflexia 90% Incoordination 90% Muscular hypotonia 90% Hemiplegia/hemiparesis 50% Seizures 50% Short stature 50% Skeletal muscle atrophy 50% Strabismus 50% Cataract 7.5% Abnormality of metabolism/homeostasis - Autosomal recessive inheritance - Broad-based gait - Cerebellar atrophy - Cerebellar hypoplasia - Congenital onset - Cortical gyral simplification - Delayed speech and language development - Dysarthria - Dysdiadochokinesis - Dysmetria - Gait ataxia - Gaze-evoked nystagmus - Hypoplasia of the brainstem - Intellectual disability - Intention tremor - Nonprogressive - Pachygyria - Pes planus - Poor speech - Truncal ataxia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) CHMP2B-related frontotemporal dementia ?"}, {"role": "assistant", "content": "CHMP2B-related frontotemporal dementia is a progressive brain disorder that affects personality, behavior, and language. The symptoms of this disorder usually become noticeable in a person's fifties or sixties, and affected people survive about 3 to 21 years after the appearance of symptoms. Changes in personality and behavior are the most common early signs of CHMP2B-related frontotemporal dementia. These changes include inappropriate emotional responses, restlessness, loss of initiative, and neglect of personal hygiene. Affected individuals may overeat sweet foods or place non-food items into their mouths (hyperorality). Additionally, it may become difficult for affected individuals to interact with others in a socially appropriate manner. They increasingly require help with personal care and other activities of daily living. Many people with CHMP2B-related frontotemporal dementia develop progressive problems with speech and language (aphasia). They may have trouble speaking, although they can often understand others' speech and written text. Affected individuals may also have difficulty using numbers (dyscalculia). In the later stages of the disease, many completely lose the ability to communicate. Several years after signs and symptoms first appear, some people with CHMP2B-related frontotemporal dementia develop problems with movement. These movement abnormalities include rigidity, tremors, uncontrolled muscle tensing (dystonia), and involuntary muscle spasms (myoclonus). As the disease progresses, most affected individuals become unable to walk.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) hypochondroplasia ?"}, {"role": "assistant", "content": "Hypochondroplasia is a form of short-limbed dwarfism. This condition affects the conversion of cartilage into bone (a process called ossification), particularly in the long bones of the arms and legs. Hypochondroplasia is similar to another skeletal disorder called achondroplasia, but the features tend to be milder. All people with hypochondroplasia have short stature. The adult height for men with this condition ranges from 138 centimeters to 165 centimeters (4 feet, 6 inches to 5 feet, 5 inches). The height range for adult women is 128 centimeters to 151 centimeters (4 feet, 2 inches to 4 feet, 11 inches). People with hypochondroplasia have short arms and legs and broad, short hands and feet. Other characteristic features include a large head, limited range of motion at the elbows, a sway of the lower back (lordosis), and bowed legs. These signs are generally less pronounced than those seen with achondroplasia and may not be noticeable until early or middle childhood. Some studies have reported that a small percentage of people with hypochondroplasia have mild to moderate intellectual disability or learning problems, but other studies have produced conflicting results.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Marfan Syndrome ?"}, {"role": "assistant", "content": "Marfan syndrome can affect many parts of the body. As a result, the signs and symptoms of the disorder vary from person to person, even in the same family.\n \nMarfan complications also vary, depending on how the condition affects your body. Marfan syndrome most often affects the connective tissue of the heart, eyes, bones, lungs, and covering of the spinal cord. This can cause many complications, some of which are life threatening.\n \nMarfan Traits\n \nMarfan syndrome often affects the long bones of the body. This can lead to signs, or traits, such as:\n \nA tall, thin build.\n \nLong arms, legs, fingers, and toes and flexible joints.\n \nA spine that curves to one side. This condition is called scoliosis.\n \nA chest that sinks in or sticks out. These conditions are called pectus excavatum and pectus carinatum, respectively.\n \nTeeth that are too crowded.\n \nFlat feet.\n \nStretch marks on the skin also are a common trait in people who have Marfan syndrome. Stretch marks usually appear on the lower back, buttocks, shoulders, breasts, thighs, and abdomen.\n \nNot everyone who has these traits has Marfan syndrome. Some of these traits also are signs of other connective tissue disorders.\n \nComplications of Marfan Syndrome\n \nHeart and Blood Vessel Complications\n \nThe most serious complications of Marfan syndrome involve the heart and blood vessels.\n \nMarfan syndrome can affect the aorta, the main blood vessel that supplies oxygen-rich blood to the body. In Marfan syndrome, the aorta can stretch and grow weak. This condition is called aortic dilation or aortic aneurysm.\n \nIf the aorta stretches and grows weak, it may tear and leak blood. This condition, called aortic dissection, can lead to severe heart problems or even death.\n \nAortic dissection can cause severe pain in either the front or back of the chest or abdomen. The pain can travel upward or downward. If you have symptoms of aortic dissection, call 911.\n \nMarfan syndrome also can cause problems with the heart's mitral (MI-trul) valve. This valve controls blood flow between the upper and lower chambers on the left side of the heart. Marfan syndrome can lead to mitral valve prolapse (MVP).\n \nMVP is a condition in which the flaps of the mitral valve are floppy and don't close tightly. MVP can cause shortness of breath, palpitations (pal-pi-TA-shuns), chest pain, and other symptoms.\n \nIf you have MVP, your doctor may hear a heart murmur if he or she listens to your heart with a stethoscope. A heart murmur is an extra or unusual sound heard during the heartbeat.\n \nEye Complications\n \nMarfan syndrome can cause many eye problems. A common problem in Marfan syndrome is a dislocated lens in one or both of the eyes. In this condition, the lens (the part of the eye that helps focus light) shifts up, down, or to the side. This can affect your eyesight. A dislocated lens often is the first sign that someone has Marfan syndrome.\n \nOther eye complications of Marfan syndrome include nearsightedness, early glaucoma (high pressure in the fluid in the eyes), and early cataracts (clouding of an eye's lens). A detached retina also can occur.\n \nNervous System Complications\n \nFluid surrounds your brain and spinal cord. A substance called dura covers the fluid. In Marfan syndrome, the dura can stretch and grow weak.\n \nThis condition, called dural ectasia (ek-TA-ze-ah), can occur in people who have Marfan syndrome as they grow older. Eventually, the bones of the spine may wear away.\n \nSymptoms of this condition are lower back pain, abdominal pain, headache, and numbness in the legs.\n \nLung Complications\n \nMarfan syndrome can cause sudden pneumothorax (noo-mo-THOR-aks), or collapsed lung. In this condition, air or gas builds up in the space between the lungs and chest wall. If enough air or gas builds up, a lung can collapse.\n \nThe most common symptoms of a collapsed lung are sudden pain in one side of the lung and shortness of breath.\n \nConditions such as scoliosis (a curved spine) and pectus excavatum (a chest that sinks in) can prevent the lungs from expanding fully. This can cause breathing problems. Marfan syndrome also can cause changes in the lung tissue, and it can lead to early emphysema (em-fi-SE-ma).\n \nMarfan syndrome also has been linked to sleep apnea. In people who have Marfan syndrome, the shape of the face, oral cavity, or teeth may increase the risk of sleep apnea. Sleep apnea causes one or more pauses in breathing or shallow breaths while you sleep.\n \nBreathing pauses can last from a few seconds to minutes. They often occur 5 to 30 times or more an hour. Typically, normal breathing then starts again, sometimes with a loud snort or choking sound.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Andermann syndrome ?"}, {"role": "assistant", "content": "Andermann syndrome is a disorder that damages the nerves used for muscle movement and sensation (motor and sensory neuropathy). Absence (agenesis) or malformation of the tissue connecting the left and right halves of the brain (corpus callosum) also occurs in most people with this disorder. People affected by Andermann syndrome have abnormal or absent reflexes (areflexia) and weak muscle tone (hypotonia). They experience muscle wasting (amyotrophy), severe progressive weakness and loss of sensation in the limbs, and rhythmic shaking (tremors). They typically begin walking between ages 3 and 4 and lose this ability by their teenage years. As they get older, people with this disorder frequently develop joint deformities called contractures, which restrict the movement of certain joints. Most affected individuals also develop abnormal curvature of the spine (scoliosis), which may require surgery. Andermann syndrome also results in abnormal function of certain cranial nerves, which emerge directly from the brain and extend to various areas of the head and neck. Cranial nerve problems may result in facial muscle weakness, drooping eyelids (ptosis), and difficulty following movements with the eyes (gaze palsy). Individuals with Andermann syndrome usually have intellectual disability, which may be mild to severe, and some experience seizures. They may also develop psychiatric symptoms such as depression, anxiety, agitation, paranoia, and hallucinations, which usually appear in adolescence. Some people with Andermann syndrome have atypical physical features such as widely spaced eyes (ocular hypertelorism); a wide, short skull (brachycephaly); a high arch of the hard palate at the roof of the mouth; a big toe that crosses over the other toes; and partial fusion (syndactyly) of the second and third toes. Andermann syndrome is associated with a shortened life expectancy, but affected individuals typically live into adulthood.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Brown-Sequard syndrome ?"}, {"role": "assistant", "content": "Brown-Sequard syndrome is a rare neurological condition characterized by a lesion in the spinal cord. This condition results in weakness or paralysis on one side of the body (hemiparaplegia) and a loss of sensation on the opposite side (hemianesthesia). Brown-Sequard syndrome may be caused by a spinal cord tumor, trauma (such as a puncture wound to the neck or back), obstructed blood vessel, or infectious or inflammatory diseases such as tuberculosis, or multiple sclerosis. Treatment and prognosis depends on the underlying cause of the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is the outlook for Oxygen Therapy ?"}, {"role": "assistant", "content": "During an emergencysuch as a serious accident, possible heart attack, or other life-threatening eventyou might be started on oxygen therapy right away.\n \nOtherwise, your doctor will decide whether you need oxygen therapy based on test results. An arterial blood gas test and a pulse oximetry test can measure the amount of oxygen in your blood.\n \nFor an arterial blood gas test, a small needle is inserted into an artery, usually in your wrist. A sample of blood is taken from the artery. The sample is then sent to a laboratory, where its oxygen level is measured.\n \nFor a pulse oximetry test, a small sensor is attached to your fingertip or toe. The sensor uses light to estimate how much oxygen is in your blood.\n \nIf the tests show that your blood oxygen level is low, your doctor may prescribe oxygen therapy. In the prescription, your doctor will include the number of liters of oxygen per minute that you need (oxygen flow rate). He or she also will include how often you need to use the oxygen (frequency of use).\n \nFrequency of use includes when and for how long you should use the oxygen. Depending on your condition and blood oxygen level, you may need oxygen only at certain times, such as during sleep or while exercising.\n \nIf your doctor prescribes home oxygen therapy, he or she can help you find a home equipment provider. The provider will give you the equipment and other supplies you need.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) myoclonic epilepsy myopathy sensory ataxia ?"}, {"role": "assistant", "content": "Myoclonic epilepsy myopathy sensory ataxia, commonly called MEMSA, is part of a group of conditions called the POLG-related disorders. The conditions in this group feature a range of similar signs and symptoms involving muscle-, nerve-, and brain-related functions. The signs and symptoms of MEMSA typically appear during young adulthood. This condition had previously been known as spinocerebellar ataxia with epilepsy (SCAE). The first symptom of MEMSA is usually cerebellar ataxia, which refers to problems with coordination and balance due to defects in the part of the brain that is involved in coordinating movement (cerebellum). Recurrent seizures (epilepsy) usually develop later, often in combination with uncontrollable muscle jerks (myoclonus). The seizures usually begin in the right arm and spread to become generalized throughout the body. Additionally, affected individuals may have severe brain dysfunction (encephalopathy) or muscle weakness (myopathy). The myopathy can affect muscles close to the center of the body (proximal), such as the muscles of the hips, thighs, upper arms, or neck, or muscles farther away from the center of the body (distal), such as the muscles of the hands or feet. The myopathy may be especially noticeable during exercise (exercise intolerance).", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Do you have information about Premature Babies"}, {"role": "assistant", "content": "Summary : Almost 1 of every 10 infants born in the United States are premature, or preemies. A premature birth is when a baby is born before 37 completed weeks of pregnancy. A full-term pregnancy is 40 weeks. Important growth and development happen throughout pregnancy - especially in the final months and weeks. Because they are born too early, preemies weigh much less than full-term babies. They may have health problems because their organs did not have enough time to develop. Problems that a baby born too early may have include - Breathing problems - Feeding difficulties - Cerebral palsy - Developmental delay - Vision problems - Hearing problems Preemies need special medical care in a neonatal intensive care unit, or NICU. They stay there until their organ systems can work on their own. Centers for Disease Control and Prevention", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Currarino triad inherited ?"}, {"role": "assistant", "content": "How is Currarino triad inherited? Currarino triad is inherited in an autosomal dominant manner. This means that having a change (mutation) in only one copy of the MNX1 gene in each cell is enough to cause features of the condition. In some cases, an affected person inherits the mutated gene from an affected parent. In other cases, the mutation occurs for the first time in a person with no family history of the condition. This is called a de novo mutation. When a person with a mutation that causes an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit that mutation. A significant interfamilial (between different families) and intrafamilial (within the same family) variability in expression has been found without any definite correlation to the genetic mutations. This means in one family, a parent might only have one very mild feature of Currarino triad while one of their children might have severe forms of all three features and yet another child might have a mild form of one feature and a severe form of another.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for pachyonychia congenita ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of pachyonychia congenita: - Gene Review: Gene Review: Pachyonychia Congenita - Genetic Testing Registry: Pachyonychia congenita 4 - Genetic Testing Registry: Pachyonychia congenita syndrome - Genetic Testing Registry: Pachyonychia congenita type 2 - Genetic Testing Registry: Pachyonychia congenita, type 1 - MedlinePlus Encyclopedia: Nail Abnormalities - MedlinePlus Encyclopedia: Natal Teeth These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Pili torti developmental delay neurological abnormalities ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Pili torti developmental delay neurological abnormalities? The Human Phenotype Ontology provides the following list of signs and symptoms for Pili torti developmental delay neurological abnormalities. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of hair texture 90% Abnormality of the eyelashes 90% Aplasia/Hypoplasia of the eyebrow 90% Cognitive impairment 90% Incoordination 90% Joint hypermobility 90% Pili torti 90% Gait disturbance 50% Muscular hypotonia 50% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) microphthalmia ?"}, {"role": "assistant", "content": "Microphthalmia is an eye abnormality that arises before birth. In this condition, one or both eyeballs are abnormally small. In some affected individuals, the eyeball may appear to be completely missing; however, even in these cases some remaining eye tissue is generally present. Such severe microphthalmia should be distinguished from another condition called anophthalmia, in which no eyeball forms at all. However, the terms anophthalmia and severe microphthalmia are often used interchangeably. Microphthalmia may or may not result in significant vision loss. People with microphthalmia may also have a condition called coloboma. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or gaps in the colored part of the eye called the iris; the retina, which is the specialized light-sensitive tissue that lines the back of the eye; the blood vessel layer under the retina called the choroid; or in the optic nerves, which carry information from the eyes to the brain. Colobomas may be present in one or both eyes and, depending on their size and location, can affect a person's vision. People with microphthalmia may also have other eye abnormalities, including clouding of the lens of the eye (cataract) and a narrowed opening of the eye (narrowed palpebral fissure). Additionally, affected individuals may have an abnormality called microcornea, in which the clear front covering of the eye (cornea) is small and abnormally curved. Between one-third and one-half of affected individuals have microphthalmia as part of a syndrome that affects other organs and tissues in the body. These forms of the condition are described as syndromic. When microphthalmia occurs by itself, it is described as nonsyndromic or isolated.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Hennekam syndrome inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Tetralogy of Fallot ?"}, {"role": "assistant", "content": "Doctors often don't know what causes tetralogy of Fallot and other congenital heart defects.\n \nSome conditions or factors that occur during pregnancy may raise your risk of having a child who has tetralogy of Fallot. These conditions and factors include:\n \nGerman measles (rubella) and some other viral illnesses\n \nPoor nutrition\n \nAlcohol use\n \nAge (being older than 40)\n \nDiabetes\n \nHeredity may play a role in causing tetralogy of Fallot. An adult who has tetralogy of Fallot may be more likely than other people to have a baby with the condition.\n \nChildren who have certain genetic disorders, such as Down syndrome and DiGeorge syndrome, often have congenital heart defects, including tetralogy of Fallot.\n \nResearchers continue to search for the causes of tetralogy of Fallot and other congenital heart defects.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for laryngo-onycho-cutaneous syndrome ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of laryngo-onycho-cutaneous syndrome: - Genetic Testing Registry: Laryngoonychocutaneous syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Dent disease 1 ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Dent disease 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Dent disease 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aminoaciduria - Bone pain - Bowing of the legs - Bulging epiphyses - Chronic kidney disease - Delayed epiphyseal ossification - Enlargement of the ankles - Enlargement of the wrists - Femoral bowing - Fibular bowing - Glycosuria - Hypercalciuria - Hyperphosphaturia - Hypophosphatemia - Increased serum 1,25-dihydroxyvitamin D3 - Low-molecular-weight proteinuria - Metaphyseal irregularity - Microscopic hematuria - Nephrocalcinosis - Nephrolithiasis - Osteomalacia - Phenotypic variability - Proximal tubulopathy - Recurrent fractures - Renal phosphate wasting - Rickets - Short stature - Sparse bone trabeculae - Thin bony cortex - Tibial bowing - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Smith-Lemli-Opitz syndrome ?"}, {"role": "assistant", "content": "Smith-Lemli-Opitz syndrome is a developmental disorder that affects many parts of the body. This condition is characterized by distinctive facial features, small head size (microcephaly), intellectual disability or learning problems, and behavioral problems. Many affected children have the characteristic features of autism, a developmental condition that affects communication and social interaction. Malformations of the heart, lungs, kidneys, gastrointestinal tract, and genitalia are also common. Infants with Smith-Lemli-Opitz syndrome have weak muscle tone (hypotonia), experience feeding difficulties, and tend to grow more slowly than other infants. Most affected individuals have fused second and third toes (syndactyly), and some have extra fingers or toes (polydactyly). The signs and symptoms of Smith-Lemli-Opitz syndrome vary widely. Mildly affected individuals may have only minor physical abnormalities with learning and behavioral problems. Severe cases can be life-threatening and involve profound intellectual disability and major physical abnormalities.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by Kawasaki disease ?"}, {"role": "assistant", "content": "In the United States and other Western countries, Kawasaki disease occurs in approximately 1 in 10,000 children under 5 each year. The condition is 10 to 20 times more common in East Asia, including Japan, Korea, and Taiwan.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Arrhythmia ?"}, {"role": "assistant", "content": "An arrhythmia is a problem with the rate or rhythm of your heartbeat. It means that your heart beats too quickly, too slowly, or with an irregular pattern. When the heart beats faster than normal, it is called tachycardia. When the heart beats too slowly, it is called bradycardia. The most common type of arrhythmia is atrial fibrillation, which causes an irregular and fast heart beat. Many factors can affect your heart's rhythm, such as having had a heart attack, smoking, congenital heart defects, and stress. Some substances or medicines may also cause arrhythmias. Symptoms of arrhythmias include - Fast or slow heart beat - Skipping beats - Lightheadedness or dizziness - Chest pain - Shortness of breath - Sweating Your doctor can run tests to find out if you have an arrhythmia. Treatment to restore a normal heart rhythm may include medicines, an implantable cardioverter-defibrillator (ICD) or pacemaker, or sometimes surgery. NIH: National Heart, Lung, and Blood Institute", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by Sheldon-Hall syndrome ?"}, {"role": "assistant", "content": "The prevalence of Sheldon-Hall syndrome is unknown; however, it is thought to be the most common type of distal arthrogryposis. About 100 affected individuals have been described in the medical literature.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) glycogen storage disease type V ?"}, {"role": "assistant", "content": "Glycogen storage disease type V (also known as GSDV or McArdle disease) is an inherited disorder caused by an inability to break down a complex sugar called glycogen in muscle cells. A lack of glycogen breakdown interferes with the function of muscle cells. People with GSDV typically experience fatigue, muscle pain, and cramps during the first few minutes of exercise (exercise intolerance). Exercise such as weight lifting or jogging usually triggers these symptoms in affected individuals. The discomfort is generally alleviated with rest. If individuals rest after brief exercise and wait for their pain to go away, they can usually resume exercising with little or no discomfort (a characteristic phenomenon known as \"second wind\"). Prolonged or intense exercise can cause muscle damage in people with GSDV. About half of people with GSDV experience breakdown of muscle tissue (rhabdomyolysis). In severe episodes, the destruction of muscle tissue releases a protein called myoglobin, which is filtered through the kidneys and released in the urine (myoglobinuria). Myoglobin causes the urine to be red or brown. This protein can also damage the kidneys, and it is estimated that half of those individuals with GSDV who have myoglobinuria will develop life-threatening kidney failure. The signs and symptoms of GSDV can vary significantly in affected individuals. The features of this condition typically begin in a person's teens or twenties, but they can appear anytime from infancy to adulthood. In most people with GSDV, the muscle weakness worsens over time; however, in about one-third of affected individuals, the muscle weakness is stable. Some people with GSDV experience mild symptoms such as poor stamina; others do not experience any symptoms.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Hemangiomatosis, familial pulmonary capillary ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Hemangiomatosis, familial pulmonary capillary? The Human Phenotype Ontology provides the following list of signs and symptoms for Hemangiomatosis, familial pulmonary capillary. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Cough - Dyspnea - Pulmonary capillary hemangiomatosis - Pulmonary hypertension - Pulmonary venoocclusive disease - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Ewing sarcoma ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of Ewing sarcoma: - Cancer.Net: Ewing Family of Tumors - Childhood: Diagnosis - Cancer.Net: Ewing Family of Tumors - Childhood: Treatment - Genetic Testing Registry: Ewing's sarcoma - MedlinePlus Encyclopedia: Ewing Sarcoma These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Gestational Trophoblastic Disease ?"}, {"role": "assistant", "content": "Key Points\n - There are different types of treatment for patients with gestational trophoblastic disease. - Three types of standard treatment are used: - Surgery - Chemotherapy - Radiation therapy - New types of treatment are being tested in clinical trials. - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed.\n \n \n There are different types of treatment for patients with gestational trophoblastic disease.\n Different types of treatment are available for patients with gestational trophoblastic disease. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. Before starting treatment, patients may want to think about taking part in a clinical trial. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Clinical trials are taking place in many parts of the country. Information about ongoing clinical trials is available from the NCI website. Choosing the most appropriate cancer treatment is a decision that ideally involves the patient, family, and health care team.\n \n \n Three types of standard treatment are used:\n Surgery The doctor may remove the cancer using one of the following operations: - Dilatation and curettage (D&C) with suction evacuation: A surgical procedure to remove abnormal tissue and parts of the inner lining of the uterus. The cervix is dilated and the material inside the uterus is removed with a small vacuum-like device. The walls of the uterus are then gently scraped with a curette (spoon-shaped instrument) to remove any material that may remain in the uterus. This procedure may be used for molar pregnancies. - Hysterectomy: Surgery to remove the uterus, and sometimes the cervix. If the uterus and cervix are taken out through the vagina, the operation is called a vaginal hysterectomy. If the uterus and cervix are taken out through a large incision (cut) in the abdomen, the operation is called a total abdominal hysterectomy. If the uterus and cervix are taken out through a small incision (cut) in the abdomen using a laparoscope, the operation is called a total laparoscopic hysterectomy. Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). The way the chemotherapy is given depends on the type and stage of the cancer being treated, or whether the tumor is low-risk or high-risk. Combination chemotherapy is treatment using more than one anticancer drug. Even if the doctor removes all the cancer that can be seen at the time of the surgery, some patients may be given chemotherapy after surgery to kill any tumor cells that are left. Treatment given after the surgery, to lower the risk that the cancer will come back, is called adjuvant therapy. See Drugs Approved for Gestational Trophoblastic Disease for more information. Radiation therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy: - External radiation therapy uses a machine outside the body to send radiation toward the cancer. - Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. The way the radiation therapy is given depends on the type of gestational trophoblastic disease being treated. External radiation therapy is used to treat gestational trophoblastic disease.\n \n \n New types of treatment are being tested in clinical trials.\n Information about ongoing clinical trials is available from the NCI website.\n \n \n Patients may want to think about taking part in a clinical trial.\n For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward.\n \n \n Patients can enter clinical trials before, during, or after starting their cancer treatment.\n Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.\n \n \n Follow-up tests may be needed.\n Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups. Blood levels of beta human chorionic gonadotropin (-hCG) will be checked for up to 6 months after treatment has ended. This is because a -hCG level that is higher than normal may mean that the tumor has not responded to treatment or it has become cancer.\n \n\t\t \n\t\t Treatment Options for Gestational Trophoblastic Disease\n\t\t \n\t\t \n\t\t Hydatidiform Moles\n\t\t Treatment of a hydatidiform mole may include the following: - Surgery (Dilatation and curettage with suction evacuation) to remove the tumor. After surgery, beta human chorionic gonadotropin (-hCG) blood tests are done every week until the -hCG level returns to normal. Patients also have follow-up doctor visits monthly for up to 6 months. If the level of -hCG does not return to normal or increases, it may mean the hydatidiform mole was not completely removed and it has become cancer. Pregnancy causes -hCG levels to increase, so your doctor will ask you not to become pregnant until follow-up is finished. For disease that remains after surgery, treatment is usually chemotherapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with hydatidiform mole. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.\n\t\t \n\t\t \n\t\t Gestational Trophoblastic Neoplasia\n\t\t Low-risk Gestational Trophoblastic Neoplasia Treatment of low-risk gestational trophoblastic neoplasia (GTN) (invasive mole or choriocarcinoma) may include the following: - Chemotherapy with one or more anticancer drugs. Treatment is given until the beta human chorionic gonadotropin (-hCG) level is normal for at least 3 weeks after treatment ends. If the level of -hCG in the blood does not return to normal or the tumor spreads to distant parts of the body, chemotherapy regimens used for high-risk metastatic GTN are given. Check the list of NCI-supported cancer clinical trials that are now accepting patients with low risk metastatic gestational trophoblastic tumor. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. High-risk Metastatic Gestational Trophoblastic Neoplasia Treatment of high-risk metastatic gestational trophoblastic neoplasia (invasive mole or choriocarcinoma) may include the following: - Combination chemotherapy. - Intrathecal chemotherapy and radiation therapy to the brain (for cancer that has spread to the lung, to keep it from spreading to the brain). - High-dose chemotherapy or intrathecal chemotherapy and/or radiation therapy to the brain (for cancer that has spread to the brain). Check the list of NCI-supported cancer clinical trials that are now accepting patients with high risk metastatic gestational trophoblastic tumor. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. Placental-Site Gestational Trophoblastic Tumors and Epithelioid Trophoblastic Tumors Treatment of stage I placental-site gestational trophoblastic tumors and epithelioid trophoblastic tumors may include the following: - Surgery to remove the uterus. Treatment of stage II placental-site gestational trophoblastic tumors and epithelioid trophoblastic tumors may include the following: - Surgery to remove the tumor, which may be followed by combination chemotherapy. Treatment of stage III and IV placental-site gestational trophoblastic tumors and epithelioid trophoblastic tumors may include following: - Combination chemotherapy. - Surgery to remove cancer that has spread to other places, such as the lung or abdomen. Check the list of NCI-supported cancer clinical trials that are now accepting patients with placental-site gestational trophoblastic tumor and epithelioid trophoblastic tumor. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.\n\t\t \n\t\t \n\t\t Recurrent or Resistant Gestational Trophoblastic Neoplasia\n\t\t Treatment of recurrent or resistant gestational trophoblastic tumor may include the following: - Chemotherapy with one or more anticancer drugs for tumors previously treated with surgery. - Combination chemotherapy for tumors previously treated with chemotherapy. - Surgery for tumors that do not respond to chemotherapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with recurrent gestational trophoblastic tumor. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for multiple pterygium syndrome ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of multiple pterygium syndrome: - Genetic Testing Registry: Lethal multiple pterygium syndrome - Genetic Testing Registry: Multiple pterygium syndrome Escobar type These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by succinate-CoA ligase deficiency ?"}, {"role": "assistant", "content": "Although the exact prevalence of succinate-CoA ligase deficiency is unknown, it appears to be very rare. This condition occurs more frequently among people from the Faroe Islands in the North Atlantic Ocean.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina? The Human Phenotype Ontology provides the following list of signs and symptoms for Trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of retinal pigmentation 90% Abnormality of the eyelashes 90% Abnormality of the genital system 90% Anterior hypopituitarism 90% Cognitive impairment 90% Decreased nerve conduction velocity 90% Delayed eruption of teeth 90% Delayed skeletal maturation 90% Heterochromia iridis 90% Intrauterine growth retardation 90% Nystagmus 90% Thick eyebrow 90% Truncal obesity 90% Visual impairment 90% Fine hair 50% Frontal bossing 50% Prominent occiput 50% Synophrys 50% Autosomal recessive inheritance - Central heterochromia - Cryptorchidism - Delayed puberty - Distal amyotrophy - Distal muscle weakness - Growth hormone deficiency - Hypogonadotrophic hypogonadism - Hypoplasia of penis - Intellectual disability - Long eyebrows - Long eyelashes - Peripheral axonal neuropathy - Pigmentary retinal degeneration - Severe short stature - Small for gestational age - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Insulin Resistance and Prediabetes ?"}, {"role": "assistant", "content": "Insulin is a hormone made in the pancreas, an organ located behind the stomach. The pancreas contains clusters of cells called islets. Beta cells within the islets make insulin and release it into the blood.\n \nInsulin plays a major role in metabolismthe way the body uses digested food for energy. The digestive tract breaks down carbohydratessugars and starches found in many foodsinto glucose. Glucose is a form of sugar that enters the bloodstream. With the help of insulin, cells throughout the body absorb glucose and use it for energy.\n \nInsulin's Role in Blood Glucose Control\n \nWhen blood glucose levels rise after a meal, the pancreas releases insulin into the blood. Insulin and glucose then travel in the blood to cells throughout the body.\n \n- Insulin helps muscle, fat, and liver cells absorb glucose from the bloodstream, lowering blood glucose levels. - Insulin stimulates the liver and muscle tissue to store excess glucose. The stored form of glucose is called glycogen. - Insulin also lowers blood glucose levels by reducing glucose production in the liver.\n \nIn a healthy person, these functions allow blood glucose and insulin levels to remain in the normal range.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Amyloidosis ?"}, {"role": "assistant", "content": "Amyloidosis occurs when abnormal proteins called amyloids build up and form deposits. The deposits can collect in organs such as the kidney and heart. This can cause the organs to become stiff and unable to work the way they should. There are three main types of amyloidosis: - Primary - with no known cause - Secondary - caused by another disease, including some types of cancer - Familial - passed down through genes Symptoms can vary, depending upon which organs are affected. Treatment depends on the type of amyloidosis you have. The goal is to help with symptoms and limit the production of proteins. If another disease is the cause, it needs to be treated.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is the outlook for Melkersson-Rosenthal Syndrome ?"}, {"role": "assistant", "content": "Melkersson-Rosenthal syndrome may recur intermittently after its first appearance. It can become a chronic disorder. Follow-up care should exclude the development of Crohn's disease or sarcoidosis.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) ADNP syndrome ?"}, {"role": "assistant", "content": "ADNP syndrome, also known as Helsmoortel-van der Aa syndrome, is a complex neuro-developmental disorder that affects the brain and many other areas and functions of the body. ADNP syndrome can affect muscle tone, feeding, growth, hearing, vision, sleep, fine and gross motor skills, as well as the immune system, heart, endocrine system, and gastrointestinal tract.[1] ADNP syndrome causes behavior disorders such as Autism Spectrum Disorder (ASD). ADNP is caused by a non-inherited (de novo) ADNP gene mutation. ADNP syndrome is thought to be one of the most common causes of non-inherited genetic autism.[1]", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What to do for Kidney Stones in Children ?"}, {"role": "assistant", "content": "Families may benefit from meeting with a dietitian to learn how dietary management can help in preventing stones. Depending on the underlying cause of the stone formation, medications may be necessary to prevent recurrent stones. Dietary changes and medications may be required for a long term or, quite often, for life. Some common changes include the following:\n \n- Children who tend to make calcium oxalate stones or have hypercalciuria should eat a regular amount of dietary calcium and limit salt intake. A thiazide diuretic medication may be given to some children to reduce the amount of calcium leaking into the urine. - Children who have large amounts of oxalate in the urine may need to limit foods high in oxalate, such as chocolate, peanut butter, and dark-colored soft drinks. - Children who form uric acid or cystine stones may need extra potassium citrate or potassium carbonate in the form of a pill or liquid medication. Avoiding foods high in purinessuch as meat, fish, and shellfishmay also help prevent uric acid stones.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for glutamate formiminotransferase deficiency ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of glutamate formiminotransferase deficiency: - Baby's First Test - Genetic Testing Registry: Glutamate formiminotransferase deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What to do for Ectopic Kidney ?"}, {"role": "assistant", "content": "- An ectopic kidney is a birth defect in which a kidney is located below, above, or on the opposite side of its usual position. - Factors that may lead to an ectopic kidney include - poor development of a kidney bud - a defect in the kidney tissue responsible for prompting the kidney to move to its usual position - genetic abnormalities - the mother being sick or being exposed to an agent, such as a drug or chemical, that causes birth defects - An ectopic kidney may not cause any symptoms and may function normally, even though it is not in its usual position. - Possible complications of an ectopic kidney include problems with urine drainage from that kidney. Abnormal urine flow and the placement of the ectopic kidney can lead to various problems such as infection, stones, kidney damage, and injury from trauma. - No treatment for an ectopic kidney is needed if urinary function is normal and no blockage of the urinary tract is present. Surgery or other treatment may be needed if there is an obstruction, reflux, or extensive damage to the kidney.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Balance Problems ?"}, {"role": "assistant", "content": "If you have a balance disorder, you may stagger when you try to walk, or teeter or fall when you try to stand up. You might experience other symptoms such as - dizziness or vertigo (a spinning sensation) - falling or feeling as if you are going to fall - lightheadedness, faintness, or a floating sensation - blurred vision - confusion or disorientation. dizziness or vertigo (a spinning sensation) falling or feeling as if you are going to fall lightheadedness, faintness, or a floating sensation blurred vision confusion or disorientation. Other symptoms might include nausea and vomiting, diarrhea, changes in heart rate and blood pressure, and fear, anxiety, or panic. Symptoms may come and go over short time periods or last for a long time, and can lead to fatigue and depression.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Skin Cancer ?"}, {"role": "assistant", "content": "Skin cancer is usually visible. Changes in your skin, such as lumps, scabs, red spots, rough patches, or new or irregular moles should be reported to your doctor. You should also see a doctor if you have a mole, birthmark, or other pigmented area of skin that can be classified by the ABCDE symptom system. ABCDE stands for Melanoma skin cancer is more difficult to treat, so it is important to check for signs and seek treatment as soon as possible. Use the following ABCDE rule to remember the symptoms of melanoma. See a doctor if you have a mole, birthmark, or other pigmented area of skin with A = Asymmetry. One half of the mole looks different than the other half. (top left image) B = Border. The edges are often ragged, notched, or blurred in outline. The pigment may spread into the surrounding skin. (top right image) C = Color. The mole is more than one color. Shades of black, brown, and tan may be present. Areas of white, gray, red, pink, or blue may also be seen.(bottom left image) D = Diameter.There is a change in size, usually an increase. Melanomas can be tiny, but most are larger than the size of a pea (larger than 6 millimeters or about 1/4 inch). (bottom right image) E = Evolving. The mole has changed over the past few weeks or months. Other symptoms of skin cancer include a bleeding mole or the appearance of more moles around the first one.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Mollaret meningitis ?"}, {"role": "assistant", "content": "What are the symptoms of Mollaret meningitis? The symptoms of Mollaret meningitis are the same as those found in other types of meningitis. In Mollaret meningitis, however, the symptoms are recurring and are often accompanied by long-term irregularity of the nervous system. Common symptoms of meningitis may include: High fever Severe headache Nausea Vomiting Stiff neck Photophobia (sensitivity to light) Altered mental state", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is the outlook for Childhood Brain Stem Glioma ?"}, {"role": "assistant", "content": "Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis and treatment options depend on: - The type of brain stem glioma. - Where the tumor is found in the brain and if it has spread within the brain stem. - The age of the child when diagnosed. - Whether or not the child has a condition called neurofibromatosis type 1. - Whether the tumor has just been diagnosed or has recurred (come back).", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Nance-Horan syndrome ?"}, {"role": "assistant", "content": "What causes Nance-Horan syndrome? Nance-Horan syndrome is caused by a mutation in the NHS gene, which is located on the X chromosome. Some patients have losses (deletions) of part of the chromosome X short arm (p) within the region involving the NHS gene and other genes that are located in this region. These patients may have more problems and the problems may be more serious.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "what research (or clinical trials) is being done for Incontinentia Pigmenti ?"}, {"role": "assistant", "content": "Researchers have begun to use genetic linkage studies to map the location of genes associated with the neurocutaneous disorders. Research supported by the NINDS includes studies to understand how the brain and nervous system normally develop and function and how they are affected by genetic mutations. These studies contribute to a greater understanding of gene-linked disorders such as IP, and have the potential to open promising new avenues of treatment.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Buschke Ollendorff syndrome ?"}, {"role": "assistant", "content": "How might Buschke Ollendorff syndrome be treated? There is currently no cure for BOS. Surgical removal of lesions on or under the skin may be done for cosmetic purposes. In some patients, surgical treatment of deafness may be possible. Surgery might also be necessary for some of the signs or symptoms associated with BOS. Osteopoikilosis is typically asymptomatic, but about 15-20% of individuals experience pain and joint effusions (fluid build-up). Usually, no special restrictions in activity are required for individuals with BOS.[3150]", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to pyruvate dehydrogenase deficiency ?"}, {"role": "assistant", "content": "The genes involved in pyruvate dehydrogenase deficiency each provide instructions for making a protein that is a component of a group of proteins called the pyruvate dehydrogenase complex. This complex plays an important role in the pathways that convert the energy from food into a form that cells can use. The pyruvate dehydrogenase complex converts a molecule called pyruvate, which is formed from the breakdown of carbohydrates, into another molecule called acetyl-CoA. This conversion is essential to begin the series of chemical reactions that produce energy for cells. The pyruvate dehydrogenase complex is made up of multiple copies of several enzymes called E1, E2, and E3, each of which performs part of the chemical reaction that converts pyruvate to acetyl-CoA. In addition, other proteins included in the complex ensure its proper function. One of these proteins, E3 binding protein, attaches E3 to the complex and provides the correct structure for the complex to perform its function. Other associated proteins control the activity of the complex: pyruvate dehydrogenase phosphatase turns on (activates) the complex, while pyruvate dehydrogenase kinase turns off (inhibits) the complex. The E1 enzyme, also called pyruvate dehydrogenase, is composed of four parts (subunits): two alpha subunits (called E1 alpha) and two beta subunits (called E1 beta). Mutations in the gene that provides instructions for making E1 alpha, the PDHA1 gene, are the most common cause of pyruvate dehydrogenase deficiency, accounting for approximately 80 percent of cases. These mutations lead to a shortage of E1 alpha protein or result in an abnormal protein that cannot function properly. A decrease in functional E1 alpha leads to reduced activity of the pyruvate dehydrogenase complex. Other components of the pyruvate dehydrogenase complex are also involved in pyruvate dehydrogenase deficiency. Mutations in the genes that provide instructions for E1 beta (the PDHB gene), the E2 enzyme (the DLAT gene), E3 binding protein (the PDHX gene), and pyruvate dehydrogenase phosphatase (the PDP1 gene) have been identified in people with this condition. Although it is unclear how mutations in each of these genes affect the complex, reduced functioning of one component of the complex appears to impair the activity of the whole complex. As with PDHA1 gene mutations, changes in these other genes lead to a reduction of pyruvate dehydrogenase complex activity. With decreased function of this complex, pyruvate builds up and is converted in another chemical reaction to lactic acid. The excess lactic acid causes lactic acidosis in affected individuals. In addition, the production of cellular energy is diminished. The brain, which requires especially large amounts of energy, is severely affected, resulting in the neurological problems associated with pyruvate dehydrogenase deficiency.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) 47, XYY syndrome ?"}, {"role": "assistant", "content": "47, XYY syndrome is a condition in males characterized by features that occur due to having an extra copy of the Y chromosome in each cell. Signs and symptoms can vary and range from barely noticeable to more severe; many men with the extra Y chromosome are completely unaware of its presence. Appearance and intelligence are usually normal, but learning disabilities may be present. Other signs and symptoms may include autism spectrum disorder (usually on the milder end); speech or motor delay; low muscle tone; asthma; tall stature; impaired social skills; ADHD; and/or anxiety or mood disorders. While sexual development and infertility is usually normal, some adolescents and adults have testicular failure. 47, XYY syndrome usually is not inherited, occurring due to a random event in the formation of a sperm cell prior to conception. Management depends on the symptoms in each person and may include intervention or therapies for developmental delays, behavior or mood disorders; and/or special education.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Russell-Silver syndrome ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of Russell-Silver syndrome: - Gene Review: Gene Review: Russell-Silver Syndrome - Genetic Testing Registry: Russell-Silver syndrome - MedlinePlus Encyclopedia: Russell-Silver syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by molybdenum cofactor deficiency ?"}, {"role": "assistant", "content": "Molybdenum cofactor deficiency is a rare condition that is estimated to occur in 1 in 100,000 to 200,000 newborns worldwide. More than 100 cases have been reported in the medical literature, although it is thought that the condition is underdiagnosed, so the number of affected individuals may be higher.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What to do for Adrenal Insufficiency and Addison's Disease ?"}, {"role": "assistant", "content": "- Adrenal insufficiency is an endocrine, or hormonal, disorder that occurs when the adrenal glands do not produce enough of certain hormones. - Addisons disease, the common term for primary adrenal insufficiency, occurs when the adrenal glands are damaged and cannot produce enough of the adrenal hormone cortisol. The adrenal hormone aldosterone may also be lacking. - Secondary adrenal insufficiency occurs when the pituitary gland fails to produce enough adrenocorticotropin (ACTH), a hormone that stimulates the adrenal glands to produce cortisol. If ACTH output is too low, cortisol production drops. - The most common symptoms of adrenal insufficiency are chronic fatigue, muscle weakness, loss of appetite, weight loss, and abdominal pain. The slowly progressing symptoms are often ignored until a stressful event, such as surgery, a severe injury, an illness, or pregnancy, causes them to worsen. - If not treated, an adrenal crisis can cause death. - A diagnosis of adrenal insufficiency is confirmed through hormonal blood and urine tests. Imaging studies of the adrenal and pituitary glands can be useful in helping to establish the cause. - Adrenal insufficiency is treated by replacing, or substituting, the hormones that the adrenal glands are not making. - Problems can occur in people with adrenal insufficiency who are undergoing surgery, suffer a severe injury, have an illness, or are pregnant. These conditions place additional stress on the body, and people with adrenal insufficiency may need additional treatment to respond and recover. - People with adrenal insufficiency should always carry identification stating their condition, adrenal insufficiency, in case of an emergency, as well as the supplies necessary to administer an emergency corticosteroid injection.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is 5q minus syndrome inherited ?"}, {"role": "assistant", "content": "This condition is generally not inherited but arises from a mutation in the body's cells that occurs after conception. This alteration is called a somatic mutation. Affected people typically have no history of the disorder in their family.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Rh Incompatibility ?"}, {"role": "assistant", "content": "Rh incompatibility doesn't cause signs or symptoms in a pregnant woman. In a baby, the condition can lead to hemolytic anemia. Hemolytic anemia is a condition in which red blood cells are destroyed faster than the body can replace them.\n \nRed blood cells contain hemoglobin (HEE-muh-glow-bin), an iron-rich protein that carries oxygen to the body. Without enough red blood cells and hemoglobin, the baby won't get enough oxygen.\n \nHemolytic anemia can cause mild to severe signs and symptoms in a newborn, such as jaundice and a buildup of fluid.\n \nJaundice is a yellowish color of the skin and whites of the eyes. When red blood cells die, they release hemoglobin into the blood. The hemoglobin is broken down into a compound called bilirubin. This compound gives the skin and eyes a yellowish color. High levels of bilirubin can lead to brain damage in the baby.\n \nThe buildup of fluid is a result of heart failure. Without enough hemoglobin-carrying red blood cells, the baby's heart has to work harder to move oxygen-rich blood through the body. This stress can lead to heart failure.\n \nHeart failure can cause fluid to build up in many parts of the body. When this occurs in a fetus or newborn, the condition is called hydrops fetalis (HI-drops fe-TAL-is).\n \nSevere hemolytic anemia can be fatal to a newborn at the time of birth or shortly after.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Primary orthostatic tremor ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Primary orthostatic tremor? The Human Phenotype Ontology provides the following list of signs and symptoms for Primary orthostatic tremor. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) EMG abnormality 90% Flexion contracture 90% Tremor 90% Myalgia 50% Abnormality of extrapyramidal motor function 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Pars planitis ?"}, {"role": "assistant", "content": "What are the signs and symptoms of pars planitis? Pars planitis is characterized by inflammation of the narrowed area (pars plana) between the colored part of the eye (iris) and the choroid. This may lead to blurred vision; dark, floating spots in the vision; and progressive vision loss. Approximately 80% of cases are bilateral (affecting both eyes), although one eye is typically more affected than the other. As the condition advances, cataracts, retinal detachment, or macular edema (fluid within the retina) may develop.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) T-cell immunodeficiency, congenital alopecia, and nail dystrophy ?"}, {"role": "assistant", "content": "T-cell immunodeficiency, congenital alopecia, and nail dystrophy is a type of severe combined immunodeficiency (SCID), which is a group of disorders characterized by an almost total lack of immune protection from foreign invaders such as bacteria and viruses. People with this form of SCID are missing functional immune cells called T cells, which normally recognize and attack foreign invaders to prevent infection. Without functional T cells, affected individuals develop repeated and persistent infections starting early in life. The infections result in slow growth and can be life-threatening; without effective treatment, most affected individuals live only into infancy or early childhood. T-cell immunodeficiency, congenital alopecia, and nail dystrophy also affects growth of the hair and nails. Congenital alopecia refers to an absence of hair that is apparent from birth. Affected individuals have no scalp hair, eyebrows, or eyelashes. Nail dystrophy is a general term that describes malformed fingernails and toenails; in this condition, the nails are often ridged, pitted, or abnormally curved. Researchers have described abnormalities of the brain and spinal cord (central nervous system) in at least two cases of this condition. However, it is not yet known whether central nervous system abnormalities are a common feature of T-cell immunodeficiency, congenital alopecia, and nail dystrophy.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Ectodermal dysplasia with natal teeth Turnpenny type ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Ectodermal dysplasia with natal teeth Turnpenny type? The Human Phenotype Ontology provides the following list of signs and symptoms for Ectodermal dysplasia with natal teeth Turnpenny type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the nail - Acanthosis nigricans - Autosomal dominant inheritance - Cranial hyperostosis - Ectodermal dysplasia - Hypodontia - Hypoplastic pilosebaceous units - Hypoplastic sweat glands - Natal tooth - Oligodontia - Relative macrocephaly - Short stature - Slow-growing scalp hair - Sparse eyebrow - Sparse eyelashes - Sparse scalp hair - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Yeast Infections ?"}, {"role": "assistant", "content": "Candida is the scientific name for yeast. It is a fungus that lives almost everywhere, including in your body. Usually, your immune system keeps yeast under control. If you are sick or taking antibiotics, it can multiply and cause an infection. Yeast infections affect different parts of the body in different ways: - Thrush is a yeast infection that causes white patches in your mouth - Candida esophagitis is thrush that spreads to your esophagus, the tube that takes food from your mouth to your stomach. It can make it hard or painful to swallow. - Women can get vaginal yeast infections, causing itchiness, pain and discharge - Yeast infections of the skin cause itching and rashes - Yeast infections in your bloodstream can be life-threatening Antifungal medicines get rid of yeast infections in most people. If you have a weak immune system, treatment might be more difficult.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "what research (or clinical trials) is being done for Colpocephaly ?"}, {"role": "assistant", "content": "The National Institute of Neurological Disorders and Stroke (NINDS), and other institutes of the National Institutes of Health (NIH), conduct research related to colpocephaly and other cephalic disorders in laboratories at the NIH, and also support additional research through grants to major medical institutions across the country. Much of this research focuses on finding ways to prevent brain abnormalities such as colpocephaly.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Focal facial dermal dysplasia ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Focal facial dermal dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Focal facial dermal dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal facial shape 90% Abnormality of the eye 90% Abnormality of the musculature 90% Aplasia/Hypoplasia of the skin 90% Atypical scarring of skin 90% Irregular hyperpigmentation 90% Abnormality of the eyebrow 50% Abnormality of the mouth 50% Depressed nasal bridge 50% Palpebral edema 50% Pointed chin 50% Autosomal dominant inheritance - Decreased subcutaneous fat - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Jones syndrome ?"}, {"role": "assistant", "content": "Jones syndrome is a very rare condition characterized by gingival fibromatosis (enlargement and overgrowth of the gums) and progressive, sensorineural hearing loss. The onset of gingival fibromatosis usually occurs with the eruption of the permanent teeth. Excessive growth of the gums may cause displacement of teeth, over-retention of primary teeth, and increased spacing. Jones syndrome is inherited in an autosomal dominant manner, but the underlying genetic cause is not yet known. Only a few families with Jones syndrome have been reported.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Jejunal atresia ?"}, {"role": "assistant", "content": "How might jejunal atresia be treated? Jejunal atresia is typically treated with surgery. Total parenteral nutrition (TPN) is generally necessary for a period of time following surgery until normal meals are tolerated.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Erythromelalgia ?"}, {"role": "assistant", "content": "What causes erythromelalgia? About 15% of cases of erythromelalgia are caused by mutations in the SCN9A gene. The SCN9A gene gives instructions for making part of a sodium channel which carries sodium into cells and helps them make and transmit electrical signals. These sodium channels are found in nerve cells that transmit pain signals to the spine and brain. Mutations that cause erythromelalgia cause increased transmission of pain signals, leading to the signs and symptoms of the condition. In some of these cases, an affected individual inherits the mutation from an affected parent. In other cases, a new mutation occurs for the first time in an individual with no history of the condition in the family. In the remainder of cases, the exact underlying cause is not currently known. Evidence suggests that it results from abnormalities in the normal narrowing and widening of certain blood vessels, leading to abnormalities in blood flow to the hands and feet. There may be a variety of non-genetic causes, or mutations in other genes that have not yet been identified.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to asphyxiating thoracic dystrophy ?"}, {"role": "assistant", "content": "Mutations in at least 11 genes have been found to cause asphyxiating thoracic dystrophy. Genetic changes in the IFT80 gene were the first to be associated with this condition. Later, researchers discovered that mutations in another gene, DYNC2H1, account for up to half of all cases. Mutations in other genes each cause a small percentage of cases. In total, about 70 percent of people with asphyxiating thoracic dystrophy have mutations in one of the known genes. The genes associated with asphyxiating thoracic dystrophy provide instructions for making proteins that are found in cell structures called cilia. Cilia are microscopic, finger-like projections that stick out from the surface of cells. The proteins are involved in a process called intraflagellar transport (IFT), by which materials are carried to and from the tips of cilia. IFT is essential for the assembly and maintenance of these cell structures. Cilia play central roles in many different chemical signaling pathways, including a series of reactions called the Sonic Hedgehog pathway. These pathways are important for the growth and division (proliferation) and maturation (differentiation) of cells. In particular, Sonic Hedgehog appears to be essential for the proliferation and differentiation of cells that ultimately give rise to cartilage and bone. Mutations in the genes associated with asphyxiating thoracic dystrophy impair IFT, which disrupts the normal assembly or function of cilia. As a result, cilia are missing or abnormal in many different kinds of cells. Researchers speculate that these changes alter signaling through certain signaling pathways, including the Sonic Hedgehog pathway, which may underlie the abnormalities of bone growth characteristic of asphyxiating thoracic dystrophy. Abnormal cilia in other tissues, such as the kidneys, liver, and retinas, cause the other signs and symptoms of the condition. Asphyxiating thoracic dystrophy is part of a group of disorders known as skeletal ciliopathies or ciliary chondrodysplasias, all of which are caused by problems with cilia and involve bone abnormalities. Several of these disorders, including asphyxiating thoracic dystrophy, are sometimes classified more specifically as short rib-polydactyly syndromes (SRPSs) based on their signs and symptoms. Some researchers believe that SRPSs would be more accurately described as a spectrum with a range of features rather than as separate disorders.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Alcohol Use and Older Adults ?"}, {"role": "assistant", "content": "Alcohol, also known as ethanol, is a chemical found in beverages like beer, wine, and distilled spirits such as whiskey, vodka, and rum. Through a process called fermentation, yeast converts the sugars naturally found in grains and grapes into the alcohol that is in beer and wine. Another process, called distillation, concentrates alcohol in the drink making it stronger, producing what are known as distilled spirits.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) severe congenital neutropenia ?"}, {"role": "assistant", "content": "Severe congenital neutropenia is a condition that causes affected individuals to be prone to recurrent infections. People with this condition have a shortage (deficiency) of neutrophils, a type of white blood cell that plays a role in inflammation and in fighting infection. The deficiency of neutrophils, called neutropenia, is apparent at birth or soon afterward. It leads to recurrent infections beginning in infancy, including infections of the sinuses, lungs, and liver. Affected individuals can also develop fevers and inflammation of the gums (gingivitis) and skin. Approximately 40 percent of affected people have decreased bone density (osteopenia) and may develop osteoporosis, a condition that makes bones progressively more brittle and prone to fracture. In people with severe congenital neutropenia, these bone disorders can begin at any time from infancy through adulthood. Approximately 20 percent of people with severe congenital neutropenia develop cancer of the blood-forming tissue (leukemia) or a disease of the blood and bone marrow (myelodysplastic syndrome) during adolescence. Some people with severe congenital neutropenia have additional health problems such as seizures, developmental delay, or heart and genital abnormalities.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Skin Cancer ?"}, {"role": "assistant", "content": "SPF is a sun protection rating. The SPF of a sunscreen is a measure of the time it takes to produce a sunburn in a person wearing sunscreen compared to the time it takes to produce a sunburn in a person not wearing sunscreen. This varies from person to person, so be sure to reapply sunscreen every 2-3 hours.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Diabetic Neuropathies: The Nerve Damage of Diabetes ?"}, {"role": "assistant", "content": "The first treatment step is to bring blood glucose levels within the normal range to help prevent further nerve damage. Blood glucose monitoring, meal planning, physical activity, and diabetes medicines or insulin will help control blood glucose levels. Symptoms may get worse when blood glucose is first brought under control, but over time, maintaining lower blood glucose levels helps lessen symptoms. Good blood glucose control may also help prevent or delay the onset of further problems. As scientists learn more about the underlying causes of neuropathy, new treatments may become available to help slow, prevent, or even reverse nerve damage.\n \nAs described in the following sections, additional treatment depends on the type of nerve problem and symptom.\n \nPain Relief\n \nDoctors usually treat painful diabetic neuropathy with oral medications, although other types of treatments may help some people. People with severe nerve pain may benefit from a combination of medications or treatments and should consider talking with a health care provider about treatment options.\n \nMedications used to help relieve diabetic nerve pain include\n \n- tricyclic antidepressants, such as amitriptyline, imipramine, and desipramine (Norpramin, Pertofrane) - other types of antidepressants, such as duloxetine (Cymbalta), venlafaxine, bupropion (Wellbutrin), paroxetine (Paxil), and citalopram (Celexa) - anticonvulsants, such as pregabalin (Lyrica), gabapentin (Gabarone, Neurontin), carbamazepine, and lamotrigine (Lamictal) - opioids and opioidlike drugs, such as controlled-release oxycodone, an opioid; and tramadol (Ultram), an opioid that also acts as an antidepressant\n \nDuloxetine and pregabalin are approved by the U.S. Food and Drug Administration specifically for treating painful diabetic peripheral neuropathy.\n \nPeople do not have to be depressed for an antidepressant to help relieve their nerve pain. All medications have side effects, and some are not recommended for use in older adults or those with heart disease. Because over-the-counter pain medicines such as acetaminophen and ibuprofen may not work well for treating most nerve pain and can have serious side effects, some experts recommend avoiding these medications.\n \nTreatments that are applied to the skintypically to the feetinclude capsaicin cream and lidocaine patches (Lidoderm, Lidopain). Studies suggest that nitrate sprays or patches for the feet may relieve pain. Studies of alpha-lipoic acid, an antioxidant, and evening primrose oil suggest they may help relieve symptoms and improve nerve function in some patients.\n \nA device called a bed cradle can keep sheets and blankets from touching sensitive feet and legs. Acupuncture, biofeedback, or physical therapy may help relieve pain in some people. Treatments that involve electrical nerve stimulation, magnetic therapy, and laser or light therapy may be helpful but need further study. Researchers are also studying several new therapies in clinical trials.\n \nGastrointestinal Problems\n \nTo relieve mild symptoms of gastroparesisindigestion, belching, nausea, or vomitingdoctors suggest eating small, frequent meals; avoiding fats; and eating less fiber. When symptoms are severe, doctors may prescribe erythromycin to speed digestion, metoclopramide to speed digestion and help relieve nausea, or other medications to help regulate digestion or reduce stomach acid secretion.\n \nTo relieve diarrhea or other bowel problems, doctors may prescribe an antibiotic such as tetracycline, or other medications as appropriate.\n \nDizziness and Weakness\n \nSitting or standing slowly may help prevent the light-headedness, dizziness, or fainting associated with blood pressure and circulation problems. Raising the head of the bed or wearing elastic stockings may also help. Some people benefit from increased salt in the diet and treatment with salt-retaining hormones. Others benefit from high blood pressure medications. Physical therapy can help when muscle weakness or loss of coordination is a problem.\n \nUrinary and Sexual Problems\n \nTo clear up a urinary tract infection, the doctor will probably prescribe an antibiotic. Drinking plenty of fluids will help prevent another infection. People who have incontinence should try to urinate at regular intervalsevery 3 hours, for examplebecause they may not be able to tell when the bladder is full.\n \nTo treat erectile dysfunction in men, the doctor will first do tests to rule out a hormonal cause. Several methods are available to treat erectile dysfunction caused by neuropathy. Medicines are available to help men have and maintain erections by increasing blood flow to the penis. Some are oral medications and others are injected into the penis or inserted into the urethra at the tip of the penis. Mechanical vacuum devices can also increase blood flow to the penis. Another option is to surgically implant an inflatable or semirigid device in the penis.\n \nVaginal lubricants may be useful for women when neuropathy causes vaginal dryness. To treat problems with arousal and orgasm, the doctor may refer women to a gynecologist.\n \nFoot Care\n \nPeople with neuropathy need to take special care of their feet. The nerves to the feet are the longest in the body and are the ones most often affected by neuropathy. Loss of sensation in the feet means that sores or injuries may not be noticed and may become ulcerated or infected. Circulation problems also increase the risk of foot ulcers. Smoking increases the risk of foot problems and amputation. A health care provider may be able to provide help with quitting smoking.\n \nMore than 60 percent of all nontraumatic lower-limb amputations in the United States occur in people with diabetes. Nontraumatic amputations are those not caused by trauma such as severe injuries from an accident. In 2004, about 71,000 nontraumatic amputations were performed in people with diabetes. Comprehensive foot care programs can reduce amputation rates by 45 to 85 percent.\n \nCareful foot care involves\n \n- cleaning the feet daily using warmnot hotwater and a mild soap. Soaking the feet should be avoided. A soft towel can be used to dry the feet and between the toes. - inspecting the feet and toes every day for cuts, blisters, redness, swelling, calluses, or other problems. Using a mirrorhandheld or placed on the floormay be helpful in checking the bottoms of the feet, or another person can help check the feet. A health care provider should be notified of any problems. - using lotion to moisturize the feet. Getting lotion between the toes should be avoided. - filing corns and calluses gently with a pumice stone after a bath or shower. - cutting toenails to the shape of the toes and filing the edges with an emery board each week or when needed. - always wearing shoes or slippers to protect feet from injuries. Wearing thick, soft, seamless socks can prevent skin irritation. - wearing shoes that fit well and allow the toes to move. New shoes can be broken in gradually by first wearing them for only an hour at a time. - looking shoes over carefully before putting them on and feeling the insides to make sure the shoes are free of tears, sharp edges, or objects that might injure the feet.\n \nPeople who need help taking care of their feet should consider making an appointment to see a foot doctor, also called a podiatrist.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to Hirschsprung disease ?"}, {"role": "assistant", "content": "Isolated Hirschsprung disease can result from mutations in one of several genes, including the RET, EDNRB, and EDN3 genes. However, the genetics of this condition appear complex and are not completely understood. While a mutation in a single gene sometimes causes the condition, mutations in multiple genes may be required in some cases. The genetic cause of the condition is unknown in approximately half of affected individuals. Mutations in the RET gene are the most common known genetic cause of Hirschsprung disease. The RET gene provides instructions for producing a protein that is involved in signaling within cells. This protein appears to be essential for the normal development of several kinds of nerve cells, including nerves in the intestine. Mutations in the RET gene that cause Hirschsprung disease result in a nonfunctional version of the RET protein that cannot transmit signals within cells. Without RET protein signaling, enteric nerves do not develop properly. Absence of these nerves leads to the intestinal problems characteristic of Hirschsprung disease. The EDNRB gene provides instructions for making a protein called endothelin receptor type B. When this protein interacts with other proteins called endothelins, it transmits information from outside the cell to inside the cell, signaling for many important cellular processes. The EDN3 gene provides instructions for a protein called endothelin 3, one of the endothelins that interacts with endothelin receptor type B. Together, endothelin 3 and endothelin receptor type B play an important role in the normal formation of enteric nerves. Changes in either the EDNRB gene or the EDN3 gene disrupt the normal functioning of the endothelin receptor type B or the endothelin 3 protein, preventing them from transmitting signals important for the development of enteric nerves. As a result, these nerves do not form normally during embryonic development. A lack of enteric nerves prevents stool from being moved through the intestine, leading to severe constipation and intestinal blockage.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Diffuse gastric cancer ?"}, {"role": "assistant", "content": "Can diffuse gastric cancer be caused by excessive drinking? Most of the time the exact cause of gastric cancer can not be determined; however there are many different factors that may put someone at an increased risk for developing stomach cancer. While it isn't clear if alcohol alone can increase this risk, it is thought that regular drinking may increase the risk in smokers. You can visit the following information pages develped by the National Cancer Insitute and Cancer Research UK to learn more about these risks. http://www.cancer.gov/cancertopics/wyntk/stomach/page4 http://www.cancerhelp.org.uk/help/default.asp?page=3903", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Harlequin ichthyosis ?"}, {"role": "assistant", "content": "Can harlequin ichthyosis be diagnosed before birth using amniocentesis or chorionic villus sampling? Yes, harlequin ichthyosis can be diagnosed before birth using either amniocentesis or chorionic villus sampling. Both of these procedures are used to obtain a sample of fetal DNA, which can be tested for mutations in the ABCA12 gene. The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a specific genetic test should contact a health care provider or a genetics professional.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Sclerosing mesenteritis ?"}, {"role": "assistant", "content": "Sclerosing mesenteritis is one of many terms used to describe a spectrum of chronic inflammatory diseases affecting the small bowel mesentery, the membrane that anchors the small intestine to the back of the abdominal wall. The cause of this condition is unknown. The most common symptom is abdominal pain or a palpable abdominal mass. Click on the highlighted text to view an illustration of the small intestine.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by Rett syndrome ?"}, {"role": "assistant", "content": "This condition affects an estimated 1 in 8,500 females.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Kidney Disease ?"}, {"role": "assistant", "content": "Kidney Disease Kidney disease is often called a \"silent\" disease, because most people have no symptoms with early kidney disease. In fact, you might feel just fine until your kidneys have almost stopped working. Do NOT wait for symptoms! If you are at risk for kidney disease, talk to your health care provider about getting tested. (Watch the video to learn more about the symptoms of kidney disease. To enlarge the videos on this page, click the brackets in the lower right-hand corner of the video screen. To reduce the videos, press the Escape (Esc) button on your keyboard.) Symptoms of Kidney Failure Kidney failure means that damaged kidneys are filtering less than 15% of the amount of blood filtered by healthy kidneys. If kidney disease progresses to kidney failure, a number of symptoms may occur. Some people experience fatigue, some lose their appetite, and some have leg cramps. These problems are caused by waste products that build up in the blood, a condition known as uremia. Healthy kidneys remove waste products from the blood. When the kidneys stop working, uremia occurs. The kidneys also make hormones and balance the minerals in the blood. When the kidneys stop working, most people develop conditions that affect the blood, bones, nerves, and skin. These problems may include itching, sleep problems, restless legs, weak bones, joint problems, and depression. How Kidney Disease Is Diagnosed Blood and urine tests are the only way to check for kidney damage or measure kidney function. It is important for you to get checked for kidney disease if you have the key risk factors, which are - diabetes - high blood pressure - heart disease - a family history of kidney failure. diabetes high blood pressure heart disease a family history of kidney failure. If you are at risk, ask about your kidneys at your next medical appointment. The sooner you know you have kidney disease, the sooner you can get treatment to help delay or prevent kidney failure. If you have diabetes, high blood pressure, heart disease, or a family history of kidney failure, you should get a blood and urine test to check your kidneys. Talk to your provider about how often you should be tested. (Watch the video to learn more about tests for kidney disease.) Blood Test The blood test checks your GFR. GFR stands for glomerular (glow-MAIR-you-lure) filtration rate. GFR is a measure of how much blood your kidneys filter each minute. This shows how well your kidneys are working. GFR is reported as a number. - A GFR of 60 or higher is in the normal range. - A GFR below 60 may mean you have kidney disease. However, because GFR decreases as people age, other information may be needed to determine if you actually have kidney disease. - A GFR of 15 or lower may mean kidney failure. A GFR of 60 or higher is in the normal range. A GFR below 60 may mean you have kidney disease. However, because GFR decreases as people age, other information may be needed to determine if you actually have kidney disease. A GFR of 15 or lower may mean kidney failure. You can't raise your GFR, but you can try to keep it from going lower. Ask your healthcare provider what you can do to keep your kidneys healthy. Learn more about the GFR test. Urine Test The urine test looks for albumin (al-BYOO-min), a type of protein, in your urine. A healthy kidney does not let albumin pass into the urine. A damaged kidney lets some albumin pass into the urine. This test has several different names. You could be told that you are being screened for \"proteinuria\" or \"albuminuria\" or \"microalbuminuria.\" Or you could be told that your \"urine albumin-to-creatinine ratio\" (UACR) is being measured. If you have albumin or protein in your urine, it could mean you have kidney disease. - A urine albumin result below 30 is normal. - A urine albumin result above 30 is not normal and may mean kidney disease. A urine albumin result below 30 is normal. A urine albumin result above 30 is not normal and may mean kidney disease. Learn more about the urine albumin test. Your healthcare provider might do additional tests to be sure.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Laron syndrome ?"}, {"role": "assistant", "content": "What causes Laron syndrome? Laron syndrome is caused by changes (mutations) in the GHR gene. This gene encodes growth hormone receptor, which is a protein found on the outer membrane of cells throughout the body. Growth hormone receptor is designed to recognize and bind growth hormone, which triggers cellular growth and division. When growth hormone is bound to the growth hormone receptors on liver cells, specifically, insulin-like growth factor I (another important growth-promoting hormone) is produced. Mutations in GHR impair the function of growth hormone receptors which interferes with their ability to bind growth hormone. This disrupts normal growth and development of cells and prevents the production of insulin-like growth factor I which causes the many signs and symptoms of Laron syndrome.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "what research (or clinical trials) is being done for Brain and Spinal Tumors ?"}, {"role": "assistant", "content": "Scientists continue to investigate ways to better understand, diagnose, and treat CNS tumors. Experimental treatment options may include new drugs, gene therapy, surgery , radiation, biologic modulators that enhance the body's overall immune system to recognize and fight cancer cells, and a combination of therapies. Of particular interest to scientists is the development of tailored therapeutics--involving a combination of targeted agents that use different molecules to reduce tumor gene activity and suppress uncontrolled growth by killing or reducing the production of tumor cells--to treat tumors based on their genetic makeup. Researchers continue to search for additional clinical biomarkers (molecules or other substances in the blood or tissue that can be used to diagnose or monitor a particular disorder) of CNS tumors. Other researchers are testing different drugs and molecules to see if they can modulate the normal activity of the blood-brain barrier and better target tumor cells and associated blood vessels. Also under investigation are ways to improve drug delivery to the tumor and to prevent the side-effects of cancer treatments.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Craniometaphyseal dysplasia, autosomal recessive type ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Craniometaphyseal dysplasia, autosomal recessive type? Bone overgrowth in the head causes many of the signs and symptoms of craniometaphyseal dysplasia. Affected individuals typically have distinctive facial features such as a wide nasal bridge, a prominent forehead, wide-set eyes (hypertelorism), and a prominent jaw. Excessive new bone formation (hyperostosis) in the jaw can delay teething (dentition) or result in absent teeth. Infants with this condition may have breathing or feeding problems caused by narrow nasal passages. In severe cases, abnormal bone growth can compress the nerves that emerge from the brain and extend to various areas of the head and neck (cranial nerves). Compression of the cranial nerves can lead to paralyzed facial muscles (facial nerve palsy), blindness, or deafness. The x-rays of individuals with craniometaphyseal dysplasia show unusually shaped long bones, particularly the large bones in the legs. The ends of these bones (metaphyses) are wider and appear less dense in people with this condition. The symptoms seen in autosomal recessive craniometaphyseal dysplasia are typically more severe than those seen in the autosomal dominant form. The Human Phenotype Ontology provides the following list of signs and symptoms for Craniometaphyseal dysplasia, autosomal recessive type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the metaphyses 90% Craniofacial hyperostosis 90% Depressed nasal bridge 90% Hypertelorism 90% Increased bone mineral density 90% Wide nasal bridge 90% Skeletal dysplasia 50% Telecanthus 50% Conductive hearing impairment 7.5% Facial palsy 7.5% Sensorineural hearing impairment 7.5% Visual impairment 7.5% Abnormality of the nasopharynx - Abnormality of the thorax - Autosomal recessive inheritance - Bony paranasal bossing - Broad alveolar ridges - Club-shaped distal femur - Coarse facial features - Delayed eruption of permanent teeth - Facial hyperostosis - Flared metaphysis - Macrocephaly - Mandibular prognathia - Metaphyseal dysplasia - Mixed hearing impairment - Nasal obstruction - Optic atrophy - Patchy sclerosis of finger phalanx - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to aceruloplasminemia ?"}, {"role": "assistant", "content": "Mutations in the CP gene cause aceruloplasminemia. The CP gene provides instructions for making a protein called ceruloplasmin, which is involved in iron transport and processing. Ceruloplasmin helps move iron from the organs and tissues of the body and prepares it for incorporation into a molecule called transferrin, which transports it to red blood cells to help carry oxygen. CP gene mutations result in the production of ceruloplasmin protein that is unstable or nonfunctional, or they prevent the protein from being released (secreted) by the cells in which it is made. When ceruloplasmin is unavailable, transport of iron out of the body's tissues is impaired. The resulting iron accumulation damages cells in those tissues, leading to neurological dysfunction, and the other health problems seen in aceruloplasminemia.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Chronic Pain ?"}, {"role": "assistant", "content": "Pain is a feeling set off in the nervous system. Acute pain lets you know that you may be injured or have a problem you need to take care of. Chronic pain is different. The pain signals go on for weeks, months, or even years. The original cause may have been an injury or infection. There may be an ongoing cause of pain, such as arthritis or cancer. But in some cases there is no clear cause. Problems that cause chronic pain include - Headache - Low back strain - Cancer - Arthritis - Pain from nerve damage Chronic pain usually cannot be cured. But treatments can help. They include medicines, acupuncture, electrical stimulation and surgery. Other treatments include psychotherapy, relaxation and meditation therapy, biofeedback, and behavior modification. NIH: National Institute of Neurological Disorders and Stroke", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is chorea-acanthocytosis inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to Down syndrome ?"}, {"role": "assistant", "content": "Most cases of Down syndrome result from trisomy 21, which means each cell in the body has three copies of chromosome 21 instead of the usual two copies. Less commonly, Down syndrome occurs when part of chromosome 21 becomes attached (translocated) to another chromosome during the formation of reproductive cells (eggs and sperm) in a parent or very early in fetal development. Affected people have two normal copies of chromosome 21 plus extra material from chromosome 21 attached to another chromosome, resulting in three copies of genetic material from chromosome 21. Affected individuals with this genetic change are said to have translocation Down syndrome. A very small percentage of people with Down syndrome have an extra copy of chromosome 21 in only some of the body's cells. In these people, the condition is called mosaic Down syndrome. Researchers believe that having extra copies of genes on chromosome 21 disrupts the course of normal development, causing the characteristic features of Down syndrome and the increased risk of health problems associated with this condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Galloway-Mowat syndrome ?"}, {"role": "assistant", "content": "Is genetic testing available for Galloway-Mowat syndrome? Yes. The Genetic Testing Registry (GTR) provides information about the labs that offer clinical genetic testing for Galloway-Mowat syndrome. While it is known to be caused by mutations in the WDR73 gene, it has been suggested that other, unidentified genes may also be responsible. In some cases, carrier testing for unaffected relatives may only be available if the specific mutation in the affected family member is known. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by carbamoyl phosphate synthetase I deficiency ?"}, {"role": "assistant", "content": "Carbamoyl phosphate synthetase I deficiency is a rare disorder; its overall incidence is unknown. Researchers in Japan have estimated that it occurs in 1 in 800,000 newborns in that country.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What to do for Dumping Syndrome ?"}, {"role": "assistant", "content": "The first step to minimizing symptoms of dumping syndrome involves changes in eating, diet, and nutrition, and may include\n \n- eating five or six small meals a day instead of three larger meals - delaying liquid intake until at least 30 minutes after a meal - increasing intake of protein, fiber, and complex carbohydratesfound in starchy foods such as oatmeal and rice - avoiding simple sugars such as table sugar, which can be found in candy, syrup, sodas, and juice beverages - increasing the thickness of food by adding pectin or guar gumplant extracts used as thickening agents\n \nSome people find that lying down for 30 minutes after meals also helps reduce symptoms.\n \nMedication\n \nA health care provider may prescribe octreotide acetate (Sandostatin) to treat dumping syndrome symptoms. The medication works by slowing gastric emptying and inhibiting the release of insulin and other GI hormones. Octreotide comes in short- and long-acting formulas. The short-acting formula is injected subcutaneouslyunder the skinor intravenouslyinto a veintwo to four times a day. A health care provider may perform the injections or may train the patient or patient's friend or relative to perform the injections. A health care provider injects the long-acting formula into the buttocks muscles once every 4 weeks. Complications of octreotide treatment include increased or decreased blood glucose levels, pain at the injection site, gallstones, and fatty, foul-smelling stools.\n \nSurgery\n \nA person may need surgery if dumping syndrome is caused by previous gastric surgery or if the condition is not responsive to other treatments. For most people, the type of surgery depends on the type of gastric surgery performed previously. However, surgery to correct dumping syndrome often has unsuccessful results.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Behet disease ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of Behet disease: - American Behcet's Disease Association: Diagnosis - American Behcet's Disease Association: Treatments - Genetic Testing Registry: Behcet's syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa? The Human Phenotype Ontology provides the following list of signs and symptoms for Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Amelogenesis imperfecta - Autosomal recessive inheritance - Biconcave vertebral bodies - Broad ribs - Photophobia - Prominent deltoid tuberosities - Reduced visual acuity - Rhizomelia - Rod-cone dystrophy - Scoliosis - Short clavicles - Short femoral neck - Short humerus - Short neck - Short ribs - Strabismus - Visual impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Thalassemia ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Thalassemia? The signs and symptoms vary depending on the severity of the thalassemia. For example, people affected by milder forms of thalassemia can develop mild anemia or may have no signs or symptoms of the condition at all. Intermediate forms of thalassemia can cause mild to moderate anemia and may be associated with other health problems such as slowed growth, delayed puberty, bone problems and/or an enlarged spleen. In addition to the signs and symptoms seen in intermediate thalassemia, people with severe forms of thalassemia may also experience severe anemia, poor appetite, paleness, dark urine, yellow discoloration of skin (jaundice), and enlarged liver or heart. For more information on the signs and symptoms by type of thalassemia, please click here. The Human Phenotype Ontology provides the following list of signs and symptoms for Thalassemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the heme biosynthetic pathway 90% Abnormality of immune system physiology 7.5% Biliary tract abnormality 7.5% Cognitive impairment 7.5% Hemolytic anemia 7.5% Hydrops fetalis 7.5% Hypersplenism 7.5% Myelodysplasia 7.5% Splenomegaly 7.5% Hypochromic microcytic anemia - Reduced alpha/beta synthesis ratio - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Metabolic Syndrome ?"}, {"role": "assistant", "content": "Metabolic syndrome is a group of conditions that put you at risk for heart disease and diabetes. These conditions are - High blood pressure - High blood glucose, or blood sugar, levels - High levels of triglycerides, a type of fat, in your blood - Low levels of HDL, the good cholesterol, in your blood - Too much fat around your waist Not all doctors agree on the definition or cause of metabolic syndrome. The cause might be insulin resistance. Insulin is a hormone your body produces to help you turn sugar from food into energy for your body. If you are insulin resistant, too much sugar builds up in your blood, setting the stage for disease. NIH: National Institute of Diabetes and Digestive and Kidney Diseases", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Chanarin-Dorfman syndrome ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of Chanarin-Dorfman syndrome: - Genetic Testing Registry: Triglyceride storage disease with ichthyosis - MedlinePlus Encyclopedia: Ichthyosis vulgaris These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Huntington disease ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of Huntington disease: - Gene Review: Gene Review: Huntington Disease - Genetic Testing Registry: Huntington's chorea - Huntington's Disease Society of America: HD Care - MedlinePlus Encyclopedia: Huntington Disease - University of Washington Medical Center: Testing for Huntington Disease: Making an Informed Choice These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Shoulder Injuries and Disorders ?"}, {"role": "assistant", "content": "Your shoulder joint is composed of three bones: the clavicle (collarbone), the scapula (shoulder blade), and the humerus (upper arm bone). Your shoulders are the most movable joints in your body. They can also be unstable because the ball of the upper arm is larger than the shoulder socket that holds it. To remain in a stable or normal position, the shoulder must be anchored by muscles, tendons and ligaments. Because the shoulder can be unstable, it is the site of many common problems. They include sprains, strains, dislocations, separations, tendinitis, bursitis, torn rotator cuffs, frozen shoulder, fractures and arthritis. Usually shoulder problems are treated with RICE. This stands for Rest, Ice, Compression and Elevation. Other treatments include exercise, medicines to reduce pain and swelling, and surgery if other treatments don't work. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Syringomyelia ?"}, {"role": "assistant", "content": "Syringomyelia is a rare disorder that causes a cyst to form in your spinal cord. This cyst, called a syrinx, gets bigger and longer over time, destroying part of the spinal cord. Damage to the spinal cord from the syrinx can cause symptoms such as - Pain and weakness in the back, shoulders, arms or legs - Headaches - Inability to feel hot or cold Symptoms vary according to the size and location of the syrinx. They often begin in early adulthood. Syringomyelia usually results from a skull abnormality called a Chiari I malformation. A tumor, meningitis or physical trauma can also cause it. Surgery is the main treatment. Some people also need to have the syrinx drained. Medicines can help ease pain. In some cases, there are no symptoms, so you may not need treatment.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for juvenile myoclonic epilepsy ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of juvenile myoclonic epilepsy: - Genetic Testing Registry: Epilepsy with grand mal seizures on awakening - Genetic Testing Registry: Epilepsy, idiopathic generalized 10 - Genetic Testing Registry: Epilepsy, idiopathic generalized 9 - Genetic Testing Registry: Epilepsy, juvenile myoclonic 5 - Genetic Testing Registry: Epilepsy, juvenile myoclonic 9 - Genetic Testing Registry: Juvenile myoclonic epilepsy - Merck Manual Consumer Version: Seizure Disorders These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Spinocerebellar degeneration and corneal dystrophy ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Spinocerebellar degeneration and corneal dystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar degeneration and corneal dystrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% EEG abnormality 90% Hemiplegia/hemiparesis 90% Incoordination 90% Opacification of the corneal stroma 90% Visual impairment 90% Abnormality of movement 50% Hyperlordosis 50% Hypertonia 50% Low-set, posteriorly rotated ears 50% Ptosis 50% Scoliosis 50% Triangular face 50% Abnormality of metabolism/homeostasis - Ataxia - Autosomal recessive inheritance - Corneal dystrophy - Intellectual disability - Severe visual impairment - Spinocerebellar tract degeneration - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Adult Acute Lymphoblastic Leukemia ?"}, {"role": "assistant", "content": "Tests that examine the blood and bone marrow are used to detect (find) and diagnose adult ALL. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as infection or anything else that seems unusual. A history of the patient's health habits and past illnesses and treatments will also be taken. - Complete blood count (CBC) with differential : A procedure in which a sample of blood is drawn and checked for the following: - The number of red blood cells and platelets. - The number and type of white blood cells. - The amount of hemoglobin (the protein that carries oxygen) in the red blood cells. - The portion of the blood sample made up of red blood cells. - Blood chemistry studies : A procedure in which a blood sample is checked to measure the amounts of certain substances released into the blood by organs and tissues in the body. An unusual (higher or lower than normal) amount of a substance can be a sign of disease. - Peripheral blood smear : A procedure in which a sample of blood is checked for blast cells, the number and kinds of white blood cells, the number of platelets, and changes in the shape of blood cells. - Bone marrow aspiration and biopsy : The removal of bone marrow, blood, and a small piece of bone by inserting a hollow needle into the hipbone or breastbone. A pathologist views the bone marrow, blood, and bone under a microscope to look for abnormal cells. The following tests may be done on the samples of blood or bone marrow tissue that are removed: - Cytogenetic analysis: A laboratory test in which the cells in a sample of blood or bone marrow are looked at under a microscope to find out if there are certain changes in the chromosomes of lymphocytes. For example, in Philadelphia chromosome positive ALL, part of one chromosome switches places with part of another chromosome. This is called the Philadelphia chromosome. - Immunophenotyping : A process used to identify cells, based on the types of antigens or markers on the surface of the cell. This process is used to diagnose the subtype of ALL by comparing the cancer cells to normal cells of the immune system. For example, a cytochemistry study may test the cells in a sample of tissue using chemicals (dyes) to look for certain changes in the sample. A chemical may cause a color change in one type of leukemia cell but not in another type of leukemia cell.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Immune Thrombocytopenia ?"}, {"role": "assistant", "content": "In most cases, an autoimmune response is thought to cause immune thrombocytopenia (ITP).\n \nNormally, your immune system helps your body fight off infections and diseases. In ITP, however, your immune system attacks and destroys your body's platelets by mistake. Why this happens isn't known.\n \nIn some people, ITP may be linked to viral or bacterial infections, such as HIV, hepatitis C, or H. pylori.\n \nChildren who have acute (short-term) ITP often have had recent viral infections. These infections may \"trigger\" or set off the immune reaction that leads to ITP.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Ullrich congenital muscular dystrophy ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Ullrich congenital muscular dystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Ullrich congenital muscular dystrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Autosomal recessive inheritance - Congenital muscular dystrophy - Facial palsy - Failure to thrive - Feeding difficulties in infancy - Flexion contracture - Follicular hyperkeratosis - Generalized amyotrophy - High palate - Hip dislocation - Hyperextensibility at wrists - Hyperhidrosis - Increased laxity of ankles - Increased laxity of fingers - Increased variability in muscle fiber diameter - Infantile onset - Joint laxity - Kyphosis - Mildly elevated creatine phosphokinase - Motor delay - Muscle fiber necrosis - Neonatal hypotonia - Nocturnal hypoventilation - Progressive - Protruding ear - Proximal muscle weakness - Recurrent lower respiratory tract infections - Respiratory insufficiency due to muscle weakness - Round face - Scoliosis - Slender build - Spinal rigidity - Talipes equinovarus - Torticollis - Type 1 muscle fiber predominance - Variable expressivity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Osteopetrosis autosomal recessive 5 ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Osteopetrosis autosomal recessive 5? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteopetrosis autosomal recessive 5. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis - Autosomal recessive inheritance - Decreased osteoclast count - Hydrocephalus - Osteopetrosis - Stillbirth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Thrombocytopenia ?"}, {"role": "assistant", "content": "Your doctor will diagnose thrombocytopenia based on your medical history, a physical exam, and test results. A hematologist also may be involved in your care. This is a doctor who specializes in diagnosing and treating blood diseases and conditions.\n \nOnce thrombocytopenia is diagnosed, your doctor will begin looking for its cause.\n \nMedical History\n \nYour doctor may ask about factors that can affect your platelets, such as:\n \nThe medicines you take, including over-the-counter medicines and herbal remedies, and whether you drink beverages that contain quinine. Quinine is a substance often found in tonic water and nutritional health products.\n \nYour general eating habits, including the amount of alcohol you normally drink.\n \nYour risk for AIDS, including questions about blood transfusions, sexual partners, intravenous (IV) drugs, and exposure to infectious blood or bodily fluids at work.\n \nAny family history of low platelet counts.\n \nPhysical Exam\n \nYour doctor will do a physical exam to look for signs and symptoms of bleeding, such as bruises or spots on the skin. He or she will check your abdomen for signs of an enlarged spleen or liver. You also will be checked for signs of infection, such as a fever.\n \nDiagnostic Tests\n \nYour doctor may recommend one or more of the following tests to help diagnose a low platelet count. For more information about blood tests, go to the Health Topics Blood Tests article.\n \nComplete Blood Count\n \nA complete blood count (CBC) measures the levels of red blood cells, white blood cells, and platelets in your blood. For this test, a small amount of blood is drawn from a blood vessel, usually in your arm.\n \nIf you have thrombocytopenia, the results of this test will show that your platelet count is low.\n \nBlood Smear\n \nA blood smear is used to check the appearance of your platelets under a microscope. For this test, a small amount of blood is drawn from a blood vessel, usually in your arm.\n \nBone Marrow Tests\n \nBone marrow tests check whether your bone marrow is healthy. Blood cells, including platelets, are made in your bone marrow. The two bone marrow tests are aspiration (as-pih-RA-shun) and biopsy.\n \nBone marrow aspiration might be done to find out why your bone marrow isn't making enough blood cells. For this test, your doctor removes a sample of fluid bone marrow through a needle. He or she examines the sample under a microscope to check for faulty cells.\n \nA bone marrow biopsy often is done right after an aspiration. For this test, your doctor removes a sample of bone marrow tissue through a needle. He or she examines the tissue to check the number and types of cells in the bone marrow.\n \nOther Tests\n \nIf a bleeding problem is suspected, you may need other blood tests as well. For example, your doctor may recommend PT and PTT tests to see whether your blood is clotting properly.\n \nYour doctor also may suggest an ultrasound to check your spleen. An ultrasound uses sound waves to create pictures of your spleen. This will allow your doctor to see whether your spleen is enlarged.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is cystinuria inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Obesity Hypoventilation Syndrome ?"}, {"role": "assistant", "content": "Treatments for obesity hypoventilation syndrome (OHS) include breathing support, weight loss, and medicines.\n \nThe goals of treating OHS may include:\n \nSupporting and aiding your breathing\n \nAchieving major weight loss\n \nTreating underlying and related conditions\n \nBreathing Support\n \nPositive Airway Pressure\n \nTreatment for OHS often involves a machine that provides positive airway pressure (PAP) while you sleep.\n \nPAP therapy uses mild air pressure to keep your airways open. This treatment can help your body better maintain the carbon dioxide and oxygen levels in your blood. PAP therapy also can help relieve daytime sleepiness.\n \nYour doctor might recommend CPAP (continuous positive airway pressure) or BiPAP (bilevel positive airway pressure). CPAP provides continuous mild air pressure to keep your airways open. BiPAP works almost the same, but it changes the air pressure while you breathe in and out.\n \nThe machines have three main parts:\n \nA mask or other device that fits over your nose or your nose and mouth. Straps keep the mask in place while you're wearing it.\n \nA tube that connects the mask to the machine's motor.\n \nA motor that blows air into the tube.\n \nSome machines have other features, such as heated humidifiers. The machines are small, lightweight, and fairly quiet. The noise they make is soft and rhythmic.\n \nSome people who have OHS receive extra oxygen as part of their PAP treatment. However, oxygen therapy alone isn't recommended as a treatment for OHS.\n \nPAP therapy also is used to treat obstructive sleep apnea. Many people who have OHS also have this common condition.\n \nIf your doctor prescribes PAP therapy, you'll work with someone from a home equipment provider to select a CPAP or BiPAP machine. The home equipment provider will help you pick a machine based on your prescription and the features that meet your needs.\n \nVentilator Support\n \nIf you have severe OHS that requires treatment in a hospital, you might be put on a ventilator. A ventilator is a machine that supports breathing. This machine:\n \nGets oxygen into your lungs\n \nRemoves carbon dioxide from your body\n \nHelps you breathe easier\n \nA ventilator blows air, or air with extra oxygen, into the airways through a breathing tube. One end of the tube is inserted into your windpipe, and the other end is hooked to the ventilator.\n \nUsually, the breathing tube is put into your nose or mouth and then moved down into your throat. A tube placed like this is called an endotracheal (en-do-TRA-ke-al) tube. Endotracheal tubes are used only in a hospital setting.\n \nSometimes the breathing tube is placed through a surgically made hole called a tracheostomy (TRA-ke-OS-toe-me). The hole goes through the front of your neck and into your windpipe.\n \nThe procedure to make a tracheostomy usually is done in an operating room. You'll be given medicine so you won't feel any pain. The tracheostomy allows you to be on a ventilator in the hospital, in a long-term care facility, or at home.\n \nTalk with your doctor about how long you'll need ventilator support and whether you can receive treatment at home.\n \nFor more information about ventilator support, go to the Health Topics Ventilator/Ventilator Support article.\n \nWeight Loss\n \nYour doctor will likely recommend weight loss as part of your treatment plan. Successful weight loss often involves setting goals and making lifestyle changes. For example, eating fewer calories and being physically active can help you lose weight.\n \nMedicines and weight-loss surgery might be an option if lifestyle changes aren't enough. Your doctor will advise you on the best weight-loss treatment for you.\n \nFor more information about weight loss, go to the treatment section of the Health Topics Overweight and Obesity article.\n \nMedicines\n \nYour doctor may prescribe medicines to treat OHS (although this treatment is less common than others).\n \nYour doctor also may advise you to avoid certain substances and medicines that can worsen OHS. Examples include alcohol, sedatives, and narcotics. They can interfere with how well your body is able to maintain normal carbon dioxide and oxygen levels.\n \nIf you're having surgery, make sure you tell your surgeon and health care team that you have OHS. Some medicines routinely used for surgery can worsen your condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Bone dysplasia lethal Holmgren type ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Bone dysplasia lethal Holmgren type? The Human Phenotype Ontology provides the following list of signs and symptoms for Bone dysplasia lethal Holmgren type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the femur 90% Abnormality of the ribs 90% Micromelia 90% Narrow chest 90% Short stature 90% Skeletal dysplasia 90% Weight loss 90% Abnormal diaphysis morphology 50% Abnormality of epiphysis morphology 50% Abnormality of the elbow 50% Abnormality of the metaphyses 50% Abnormality of the thumb 50% Anteverted nares 50% Depressed nasal ridge 50% Frontal bossing 50% Hearing abnormality 50% High forehead 50% Joint dislocation 50% Joint hypermobility 50% Malar flattening 50% Muscular hypotonia 50% Short neck 50% Abnormality of the skin 7.5% Anemia 7.5% Atria septal defect 7.5% Diarrhea 7.5% Hepatomegaly 7.5% Hernia 7.5% Hypertrophic cardiomyopathy 7.5% Nausea and vomiting 7.5% Patent ductus arteriosus 7.5% Recurrent respiratory infections 7.5% Respiratory insufficiency 7.5% Talipes 7.5% Thickened nuchal skin fold 7.5% Autosomal recessive inheritance - Bell-shaped thorax - Short ribs - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "what research (or clinical trials) is being done for Colorectal Cancer ?"}, {"role": "assistant", "content": "Researchers continue to look at new ways to treat, diagnose, and prevent colorectal cancer. Many are testing other types of treatments in clinical trials. Advances in Treatments Studies have found that patients who took the drug Avastin, a targeted chemotherapy drug, with their standard chemotherapy treatment had a longer progression-free survival than those who did not take Avastin, but some studies have indicated that Avastin does not extend life. (The generic name for Avastin is bevacizumab.) Scientists are also working on vaccines therapies and monoclonal antibodies that may improve how patients' immune systems respond to colorectal cancers. Monoclonal antibodies are a single type of antibody that researchers make in large amounts in a laboratory. Surgical techniques have reduced the number of patients needing a permanent colostomy. A colostomy is an opening made in the abdomen for waste to pass out of the body before it reaches the rectum. In many cases, the surgeon can reconnect the healthy parts of the colon back together after removing the cancer. This way, the colon can function just as it did before. The PLCO Trial The National Cancer Institute's Prostate, Lung, Colorectal, and Ovarian Cancer Screening Trial, or PLCO Trial, recently provided results about the role of sigmoidoscopy in reducing deaths from colon and rectal cancers. The PLCO trial, involving 148,000 volunteers aged 55 to 74, compared two groups of people over a 10-year period and found that the group that received sigmoidoscopies had fewer deaths from colorectal cancer than those who did not get a sigmoidoscopy. NSAIDs and Polyp Formation Preventing colorectal cancer is a concern of many researchers. Studies have shown that non-steroidal anti-inflammatory drugs (NSAIDs) can keep large-bowel polyps from forming. Bowel polyps can start out benign, or non-cancerous, but can become cancerous. However, the effects that these drugs have on the heart and other parts of the body is of concern, therefore these drugs should only be used for prevention under a doctor's supervision. Genetic Research Genes involved in colorectal cancer continue to be identified and understood. Hereditary nonpolyposis colorectal cancer, or HNPCC, is one condition that causes people in a certain family to develop colorectal cancer at a young age. The discovery of four genes involved with this disease has provided crucial clues about the role of DNA repair in colorectal and other cancers. Scientists are continuing to identify genes associated with colon cancers that run in families. Using traditional screening methods on people from families that carry these genes may be another way to identify cancers at an early stage and cut deaths from colorectal cancer. Genetic screening of people at high risk may become more common in the near future Besides looking at genes in families, researchers in the The Cancer Genome Atlas study looked at the genes of actual colon tumors to better understand the contribution that genes make to cancer. By looking at the genetic composition of the tumor, researchers were able to identify new mutations (changes) in the genes that can lead to cancer, including the genes BRAF and EGRF.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Heart-hand syndrome, Spanish type ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Heart-hand syndrome, Spanish type? The Human Phenotype Ontology provides the following list of signs and symptoms for Heart-hand syndrome, Spanish type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the metacarpal bones 90% Brachydactyly syndrome 90% Short toe 50% Abnormality of the cardiovascular system - Autosomal dominant inheritance - Short middle phalanx of finger - Sick sinus syndrome - Ulnar deviation of the 2nd finger - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to prevent Whipple Disease ?"}, {"role": "assistant", "content": "Experts have not yet found a way to prevent Whipple disease.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Who is at risk for Intraocular (Uveal) Melanoma? ?"}, {"role": "assistant", "content": "Being older and having fair skin may increase the risk of intraocular melanoma. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. Talk with your doctor if you think you may be at risk. Risk factors for intraocular melanoma include the following: - Having a fair complexion, which includes the following: - Fair skin that freckles and burns easily, does not tan, or tans poorly. - Blue or green or other light-colored eyes. - Older age. - Being white.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) pseudoxanthoma elasticum ?"}, {"role": "assistant", "content": "Pseudoxanthoma elasticum (PXE) is a progressive disorder that is characterized by the accumulation of deposits of calcium and other minerals (mineralization) in elastic fibers. Elastic fibers are a component of connective tissue, which provides strength and flexibility to structures throughout the body. In PXE, mineralization can affect elastic fibers in the skin, eyes, and blood vessels, and less frequently in other areas such as the digestive tract. People with PXE may have yellowish bumps called papules on their necks, underarms, and other areas of skin that touch when a joint bends (flexor areas). They may also have abnormalities in the eyes, such as a change in the pigmented cells of the retina (the light-sensitive layer of cells at the back of the eye) known as peau d'orange. Another eye abnormality known as angioid streaks occurs when tiny breaks form in the layer of tissue under the retina called Bruch's membrane. Bleeding and scarring of the retina may also occur, which can cause vision loss. Mineralization of the blood vessels that carry blood from the heart to the rest of the body (arteries) may cause other signs and symptoms of PXE. For example, people with this condition can develop narrowing of the arteries (arteriosclerosis) or a condition called claudication that is characterized by cramping and pain during exercise due to decreased blood flow to the arms and legs. Rarely, bleeding from blood vessels in the digestive tract may also occur.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Hydrops fetalis ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Hydrops fetalis? The Human Phenotype Ontology provides the following list of signs and symptoms for Hydrops fetalis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the heme biosynthetic pathway 90% Anemia 90% Congestive heart failure 90% Hydrops fetalis 90% Pallor 90% Hepatomegaly 50% Hydrocephalus 50% Oligohydramnios 50% Polyhydramnios 50% Splenomegaly 50% Toxemia of pregnancy 50% Abnormality of the pericardium 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Amelogenesis imperfecta ?"}, {"role": "assistant", "content": "Amelogenesis imperfecta (AI) (amelogenesis - enamel formation; imperfecta - imperfect) is a disorder that affects the structure and appearance of the enamel of the teeth. This condition causes teeth to be unusually small, discolored, pitted or grooved, and prone to rapid wear and breakage. These dental problems, which vary among affected individuals, can affect both primary (baby) teeth and permanent teeth. There are 4 main types of AI that are classified based on the type of enamel defect. These 4 types are divided further into 14 subtypes, which are distinguished by their specific dental abnormalities and by their pattern of inheritance. AI can be inherited in an autosomal dominant, autosomal recessive or X-linked recessive pattern.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Nicolaides-Baraitser syndrome inherited ?"}, {"role": "assistant", "content": "How is Nicolaides-Baraitser syndrome inherited? Nicolaides-Baraitser syndrome (NCBRS) is inherited in an autosomal dominant manner. This means that having a change (mutation) in only one of the two copies of the responsible gene in each cell is enough to cause features of the condition. All known cases of NCBRS have been sporadic. This means it is thought that the mutation occurred for the first time in each affected person (called a de novo mutation). There have not been reports of NCBRS being inherited from a parent, or recurring in any family (with the exception of one pair of identical twins).", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Joubert syndrome 2 ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Joubert syndrome 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Joubert syndrome 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal renal physiology - Abnormality of saccadic eye movements - Abnormality of the corpus callosum - Abnormality of the foot - Agenesis of cerebellar vermis - Ataxia - Autosomal recessive inheritance - Brainstem dysplasia - Central apnea - Chorioretinal coloboma - Depressed nasal bridge - Dolichocephaly - Dysgenesis of the cerebellar vermis - Elongated superior cerebellar peduncle - Encephalocele - Enlarged fossa interpeduncularis - Episodic tachypnea - Esotropia - Failure to thrive - Frontal bossing - Heterogeneous - High palate - Hydrocephalus - Hypertelorism - Hypoplasia of the brainstem - Hypoplastic male external genitalia - Impaired smooth pursuit - Intellectual disability - Low-set ears - Macrocephaly - Microphthalmia - Molar tooth sign on MRI - Muscular hypotonia - Neonatal breathing dysregulation - Nephronophthisis - Nystagmus - Oculomotor apraxia - Optic nerve coloboma - Phenotypic variability - Postaxial hand polydactyly - Renal cyst - Retinal dystrophy - Thickened superior cerebellar peduncle - Visual impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) renal coloboma syndrome ?"}, {"role": "assistant", "content": "Renal coloboma syndrome (also known as papillorenal syndrome) is a condition that primarily affects kidney (renal) and eye development. People with this condition typically have kidneys that are small and underdeveloped (hypoplastic), which can lead to end-stage renal disease (ESRD). This serious disease occurs when the kidneys are no longer able to filter fluids and waste products from the body effectively. It has been estimated that approximately ten percent of children with hypoplastic kidneys may have renal coloboma syndrome. The kidney problems can affect one or both kidneys. Additionally, people with renal coloboma syndrome may have a malformation in the optic nerve, a structure that carries information from the eye to the brain. Optic nerve malformations are sometimes associated with a gap or hole (coloboma) in the light-sensitive tissue at the back of the eye (the retina). The vision problems caused by these abnormalities can vary depending on the size and location of the malformation. Some people have no visual problems, while others may have severely impaired vision. Less common features of renal coloboma syndrome include backflow of urine from the bladder (vesicoureteral reflux), multiple kidney cysts, loose joints, and mild hearing loss.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of WaterhouseFriderichsen syndrome ?"}, {"role": "assistant", "content": "What are the symptoms of Waterhouse-Friderichsen syndrome? Waterhouse-Friderichsen syndrome is characterized by the abrupt onset of fever, petechiae, septic shock, and disseminated intravascular coagulation (DIC) followed by acute hemorrhagic necrosis of the adrenal glands and severe cardiovascular dysfunction. Patients often experience prodromic, nonspecific symptoms, including malaise, headache, weakness, dizziness, cough, arthralgia (joint pain), and myalgia (muscle pain). A characteristic skin rash with a typical evolution occurs in approximately 75% of patients with Waterhouse-Friderichsen syndrome. In its early stages, the rash consists of small, pink macules or papules. These are rapidly followed by petechial lesions, which gradually transform into large, purpuric, coalescent plaques in late stages of the disease.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by Adams-Oliver syndrome ?"}, {"role": "assistant", "content": "Adams-Oliver syndrome is a rare disorder; its prevalence is unknown.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Arrhythmia ?"}, {"role": "assistant", "content": "Many arrhythmias cause no signs or symptoms. When signs or symptoms are present, the most common ones are:\n \nPalpitations (feelings that your heart is skipping a beat, fluttering, or beating too hard or fast)\n \nA slow heartbeat\n \nAn irregular heartbeat\n \nFeeling pauses between heartbeats\n \nMore serious signs and symptoms include:\n \nAnxiety\n \nWeakness, dizziness, and light-headedness\n \nFainting or nearly fainting\n \nSweating\n \nShortness of breath\n \nChest pain", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) acral peeling skin syndrome ?"}, {"role": "assistant", "content": "Acral peeling skin syndrome is a skin disorder characterized by painless peeling of the top layer of skin. The term \"acral\" refers to the fact that the skin peeling in this condition is most apparent on the hands and feet. Occasionally, peeling also occurs on the arms and legs. The peeling is usually evident from birth, although the condition can also begin in childhood or later in life. Skin peeling is made worse by exposure to heat, humidity and other forms of moisture, and friction. The underlying skin may be temporarily red and itchy, but it typically heals without scarring. Acral peeling skin syndrome is not associated with any other health problems.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Peyronie's Disease ?"}, {"role": "assistant", "content": "The signs and symptoms of Peyronies disease may include\n \n- hard lumps on one or more sides of the penis - pain during sexual intercourse or during an erection - a curve in the penis either with or without an erection - narrowing or shortening of the penis - ED\n \nSymptoms of Peyronies disease range from mild to severe. Symptoms may develop slowly or appear quickly. In many cases, the pain decreases over time, although the curve in the penis may remain. In milder cases, symptoms may go away without causing a permanent curve.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) spastic paraplegia type 7 ?"}, {"role": "assistant", "content": "Spastic paraplegia type 7 is part of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and the development of paralysis of the lower limbs (paraplegia). Hereditary spastic paraplegias are divided into two types: pure and complex. The pure types involve the lower limbs. The complex types involve the lower limbs and can also affect the upper limbs to a lesser degree; the structure or functioning of the brain; and the nerves connecting the brain and spinal cord to muscles and sensory cells that detect sensations such as touch, pain, heat, and sound (the peripheral nervous system). Spastic paraplegia type 7 can occur in either the pure or complex form. Like all hereditary spastic paraplegias, spastic paraplegia type 7 involves spasticity of the leg muscles and increased muscle weakness. People with this form of spastic paraplegia can also experience exaggerated reflexes (hyperreflexia) in the arms; speech difficulties (dysarthria); difficulty swallowing (dysphagia); involuntary movements of the eyes (nystagmus); mild hearing loss; abnormal curvature of the spine (scoliosis); high-arched feet (pes cavus); numbness, tingling, or pain in the arms and legs (sensory neuropathy); disturbance in the nerves used for muscle movement (motor neuropathy); and muscle wasting (amyotrophy). The onset of symptoms varies greatly among those with spastic paraplegia type 7; however, abnormalities in muscle tone and other features are usually noticeable in adulthood.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Osteopetrosis autosomal recessive 3 ?"}, {"role": "assistant", "content": "Osteopetrosis is a bone disease that makes bones abnormally dense and prone to breakage (fracture). Researchers have described several major types of osteopetrosis, which are usually distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or X-linked. The different types of the disorder can also be distinguished by the severity of their signs and symptoms. Mutations in at least nine genes cause the various types of osteopetrosis.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Who is at risk for Osteosarcoma and Malignant Fibrous Histiocytoma of Bone? ?"}, {"role": "assistant", "content": "Having past treatment with radiation can increase the risk of osteosarcoma. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. Talk with your child's doctor if you think your child may be at risk. Risk factors for osteosarcoma include the following: - Past treatment with radiation therapy. - Past treatment with anticancer drugs called alkylating agents. - Having a certain change in the retinoblastoma gene. - Having certain conditions, such as the following: - Bloom syndrome. - Diamond-Blackfan anemia. - Li-Fraumeni syndrome. - Paget disease. - Hereditary retinoblastoma. - Rothmund-Thomson syndrome. - Werner syndrome.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Angelman Syndrome ?"}, {"role": "assistant", "content": "There is no specific therapy for Angelman syndrome. Medical therapy for seizures is usually necessary. Physical and occupational therapies, communication therapy, and behavioral therapies are important in allowing individuals with Angelman syndrome to reach their maximum developmental potential.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Tay-Sachs disease ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Tay-Sachs disease? The most common form of Tay-Sachs disease begins in infancy. Infants with this disorder typically appear normal until the age of 3 to 6 months, when development slows and muscles used for movement weaken. Affected infants lose motor skills such as turning over, sitting, and crawling. As the disease progresses, infants develop seizures, vision and hearing loss, mental retardation, and paralysis. An eye abnormality called a cherry-red spot, which can be identified with an eye examination, is characteristic of this disorder. Children with this severe form of Tay-Sachs disease usually live only into early childhood. Other forms of Tay-Sachs disease are much rarer. Signs and symptoms can begin in childhood, adolescence, or adulthood and are usually milder than those seen with the infantile form of Tay-Sachs disease. As in the infantile form, mental abilities and coordination are affected. Characteristic features include muscle weakness, loss of muscle coordination (ataxia) and other problems with movement, speech problems, and mental illness. These signs and symptoms vary widely among people with late-onset forms of Tay-Sachs disease. The Human Phenotype Ontology provides the following list of signs and symptoms for Tay-Sachs disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of movement 90% Abnormality of the macula 90% Developmental regression 90% EEG abnormality 90% Hearing impairment 90% Hemiplegia/hemiparesis 90% Hyperreflexia 90% Incoordination 90% Macrocephaly 90% Seizures 90% Hepatomegaly 50% Hypertonia 50% Muscular hypotonia 50% Myotonia 50% Optic atrophy 50% Recurrent respiratory infections 50% Splenomegaly 50% Apathy - Aspiration - Autosomal recessive inheritance - Blindness - Cherry red spot of the macula - Dementia - Exaggerated startle response - GM2-ganglioside accumulation - Infantile onset - Poor head control - Psychomotor deterioration - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is the outlook for Childhood Extracranial Germ Cell Tumors ?"}, {"role": "assistant", "content": "Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - The type of germ cell tumor. - Where the tumor first began to grow. - The stage of the cancer (whether it has spread to nearby areas or to other places in the body). - How well the tumor responds to treatment (lower AFP and -hCG levels). - Whether the tumor can be completely removed by surgery. - The patient's age and general health. - Whether the cancer has just been diagnosed or has recurred (come back). The prognosis for childhood extracranial germ cell tumors, especially ovarian germ cell tumors, is good.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Creutzfeldt-Jakob Disease ?"}, {"role": "assistant", "content": "Creutzfeldt-Jakob disease (CJD) is a rare, degenerative brain disorder. Symptoms usually start around age 60. Memory problems, behavior changes, vision problems, and poor muscle coordination progress quickly to dementia, coma, and death. Most patients die within a year. The three main categories of CJD are - Sporadic CJD, which occurs for no known reason - Hereditary CJD, which runs in families - Acquired CJD, which occurs from contact with infected tissue, usually during a medical procedure Cattle can get a disease related to CJD called bovine spongiform encephalopathy (BSE) or \"mad cow disease.\" There is concern that people can get a variant of CJD from eating beef from an infected animal, but there is no direct proof to support this. NIH: National Institute of Neurological Disorders and Stroke", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Shingles ?"}, {"role": "assistant", "content": "Caused By A Virus Shingles is caused by a virus called varicella-zoster virus -- the one that gave you chickenpox when you were a child. As you recovered from chickenpox, the sores healed and the other symptoms went away, but the virus remained. It is with you for life. The virus hides out in nerve cells, usually in the spine. But it can become active again. Somehow, the virus gets a signal that your immunity has become weakened. This triggers the reactivation. When the virus becomes active again, it follows a nerve path called a dermatome. The nerve path begins at specific points in the spine, continues around one side of the body, and surfaces at the nerve endings in the skin. The pattern of the rash reflects the location of that nerve path. Risk Factors The leading risk factor for shingles is a history of having had chickenpox. One out of every five people who have had chickenpox is likely to get shingles. Another risk factor is aging. As we age, our natural immunity gradually loses its ability to protect against infection. The shingles virus can take advantage of this and become active again. Conditions that weaken the immune system can also put people at risk for shingles. Shingles is especially dangerous for anyone who has had cancer, radiation treatments for cancer, HIV/AIDS, or a transplant operation. Stress is another factor that may contribute to outbreaks. While stress alone does not cause the outbreaks, shingles often occurs in people who have recently had a stressful event in their lives. Most cases of shingles occur in adults. Only about 5 percent of cases occur in children. With children, immune deficiency is the primary risk factor, but children who had chickenpox before they were one year old may also get shingles before they become adults. There have been studies of adults who had chickenpox as children and were later exposed to children who had chickenpox. Interestingly, that exposure apparently boosted the adult's immunity, which actually helped them avoid getting shingles later in life.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Behcet's Disease ?"}, {"role": "assistant", "content": "Treatment for Behcet's disease is symptomatic and supportive. Medication may be prescribed to reduce inflammation and/or regulate the immune system. Immunosuppressive therapy may be considered.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by SOST-related sclerosing bone dysplasia ?"}, {"role": "assistant", "content": "SOST-related sclerosing bone dysplasia is a rare condition; its exact prevalence is unknown. Approximately 100 individuals with sclerosteosis have been reported in the scientific literature. Sclerosteosis is most common in the Afrikaner population of South Africa. Van Buchem disease has been reported in approximately 30 people. Most people with van Buchem disease are of Dutch ancestry.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) hypokalemic periodic paralysis ?"}, {"role": "assistant", "content": "Hypokalemic periodic paralysis is a condition that causes episodes of extreme muscle weakness typically beginning in childhood or adolescence. Most often, these episodes involve a temporary inability to move muscles in the arms and legs. Attacks cause severe weakness or paralysis that usually lasts from hours to days. Some people may have episodes almost every day, while others experience them weekly, monthly, or only rarely. Attacks can occur without warning or can be triggered by factors such as rest after exercise, a viral illness, or certain medications. Often, a large, carbohydrate-rich meal or vigorous exercise in the evening can trigger an attack upon waking the following morning. Although affected individuals usually regain their muscle strength between attacks, repeated episodes can lead to persistent muscle weakness later in life. People with hypokalemic periodic paralysis have reduced levels of potassium in their blood (hypokalemia) during episodes of muscle weakness. Researchers are investigating how low potassium levels may be related to the muscle abnormalities in this condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by hereditary sensory and autonomic neuropathy type V ?"}, {"role": "assistant", "content": "HSAN5 is very rare. Only a few people with the condition have been identified.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Rubinstein-Taybi syndrome ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of Rubinstein-Taybi syndrome: - Gene Review: Gene Review: Rubinstein-Taybi Syndrome - Genetic Testing Registry: Rubinstein-Taybi syndrome - MedlinePlus Encyclopedia: Rubinstein-Taybi syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is nephronophthisis inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to Brugada syndrome ?"}, {"role": "assistant", "content": "Brugada syndrome can be caused by mutations in one of several genes. The most commonly mutated gene in this condition is SCN5A, which is altered in approximately 30 percent of affected individuals. This gene provides instructions for making a sodium channel, which normally transports positively charged sodium atoms (ions) into heart muscle cells. This type of ion channel plays a critical role in maintaining the heart's normal rhythm. Mutations in the SCN5A gene alter the structure or function of the channel, which reduces the flow of sodium ions into cells. A disruption in ion transport alters the way the heart beats, leading to the abnormal heart rhythm characteristic of Brugada syndrome. Mutations in other genes can also cause Brugada syndrome. Together, these other genetic changes account for less than two percent of cases of the condition. Some of the additional genes involved in Brugada syndrome provide instructions for making proteins that ensure the correct location or function of sodium channels in heart muscle cells. Proteins produced by other genes involved in the condition form or help regulate ion channels that transport calcium or potassium into or out of heart muscle cells. As with sodium channels, proper flow of ions through calcium and potassium channels in the heart muscle helps maintain a regular heartbeat. Mutations in these genes disrupt the flow of ions, impairing the heart's normal rhythm. In affected people without an identified gene mutation, the cause of Brugada syndrome is often unknown. In some cases, certain drugs may cause a nongenetic (acquired) form of the disorder. Drugs that can induce an altered heart rhythm include medications used to treat some forms of arrhythmia, a condition called angina (which causes chest pain), high blood pressure, depression, and other mental illnesses. Abnormally high blood levels of calcium (hypercalcemia) or potassium (hyperkalemia), as well as unusually low potassium levels (hypokalemia), also have been associated with acquired Brugada syndrome. In addition to causing a nongenetic form of this disorder, these factors may trigger symptoms in people with an underlying mutation in SCN5A or another gene.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Trichorhinophalangeal syndrome type 3 ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Trichorhinophalangeal syndrome type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Trichorhinophalangeal syndrome type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair quantity 90% Abnormal nasal morphology 90% Aplasia/Hypoplasia of the eyebrow 90% Brachydactyly syndrome 90% Clinodactyly of the 5th finger 90% Cone-shaped epiphysis 90% Frontal bossing 90% Long philtrum 90% Macrotia 90% Short distal phalanx of finger 90% Short stature 90% Thin vermilion border 90% Triangular face 90% Abnormality of the hip bone 50% Abnormality of the nail 50% Abnormality of the palate 50% Camptodactyly of finger 50% Hyperlordosis 50% Increased number of teeth 50% Muscular hypotonia 50% Pectus carinatum 50% Scoliosis 50% Abnormality of the nervous system - Accelerated bone age after puberty - Autosomal dominant inheritance - Avascular necrosis of the capital femoral epiphysis - Cone-shaped epiphyses of the middle phalanges of the hand - Coxa magna - Delayed skeletal maturation - Dental crowding - Osteopenia - Pear-shaped nose - Protruding ear - Short finger - Short foot - Short metacarpal - Short metatarsal - Short palm - Short phalanx of finger - Smooth philtrum - Sparse hair - Sparse lateral eyebrow - Underdeveloped nasal alae - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to gnathodiaphyseal dysplasia ?"}, {"role": "assistant", "content": "Gnathodiaphyseal dysplasia is caused by mutations in the ANO5 gene, which provides instructions for making a protein called anoctamin-5. While the specific function of this protein is not well understood, it belongs to a family of proteins, called anoctamins, that act as chloride channels. Studies suggest that most anoctamin channels are turned on (activated) in the presence of positively charged calcium atoms (calcium ions); these channels are known as calcium-activated chloride channels. The mechanism for this calcium activation is unclear. The ANO5 gene mutations that have been identified in people with gnathodiaphyseal dysplasia change single protein building blocks (amino acids) in the anoctamin-5 protein. It is unclear how these protein changes lead to the fragile bones, jaw problems, and other skeletal abnormalities that occur in gnathodiaphyseal dysplasia. Researchers suggest that the mutations may affect the way cells process calcium, an important mineral in bone development and growth.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Small Intestine Cancer ?"}, {"role": "assistant", "content": "Key Points\n - Small intestine cancer is a rare disease in which malignant (cancer) cells form in the tissues of the small intestine. - There are five types of small intestine cancer. - Diet and health history can affect the risk of developing small intestine cancer. - Signs and symptoms of small intestine cancer include unexplained weight loss and abdominal pain. - Tests that examine the small intestine are used to detect (find), diagnose, and stage small intestine cancer. - Certain factors affect prognosis (chance of recovery) and treatment options.\n \n \n Small intestine cancer is a rare disease in which malignant (cancer) cells form in the tissues of the small intestine.\n The small intestine is part of the bodys digestive system, which also includes the esophagus, stomach, and large intestine. The digestive system removes and processes nutrients (vitamins, minerals, carbohydrates, fats, proteins, and water) from foods and helps pass waste material out of the body. The small intestine is a long tube that connects the stomach to the large intestine. It folds many times to fit inside the abdomen.\n \n \n There are five types of small intestine cancer.\n The types of cancer found in the small intestine are adenocarcinoma, sarcoma, carcinoid tumors, gastrointestinal stromal tumor, and lymphoma. This summary discusses adenocarcinoma and leiomyosarcoma (a type of sarcoma). Adenocarcinoma starts in glandular cells in the lining of the small intestine and is the most common type of small intestine cancer. Most of these tumors occur in the part of the small intestine near the stomach. They may grow and block the intestine. Leiomyosarcoma starts in the smooth muscle cells of the small intestine. Most of these tumors occur in the part of the small intestine near the large intestine. See the following PDQ summaries for more information on small intestine cancer: - Adult Soft Tissue Sarcoma Treatment - Childhood Soft Tissue Sarcoma Treatment - Adult Non-Hodgkin Lymphoma Treatment - Childhood Non-Hodgkin Lymphoma Treatment - Gastrointestinal Carcinoid Tumors Treatment - Gastrointestinal Stromal Tumors Treatment", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Brachial Plexus Injuries ?"}, {"role": "assistant", "content": "The brachial plexus is a network of nerves that conducts signals from the spine to the shoulder, arm, and hand. Brachial plexus injuries are caused by damage to those nerves. Symptoms may include a limp or paralyzed arm; lack of muscle control in the arm, hand, or wrist; and a lack of feeling or sensation in the arm or hand. Brachial plexus injuries can occur as a result of shoulder trauma, tumors, or inflammation. There is a rare syndrome called Parsonage-Turner Syndrome, or brachial plexitis, which causes inflammation of the brachial plexus without any obvious shoulder injury. This syndrome can begin with severe shoulder or arm pain followed by weakness and numbness. In infants, brachial plexus injuries may happen during birth if the babys shoulder is stretched during passage in the birth canal (see Brachial Plexus Birth Injuries). \n \nThe severity of a brachial plexus injury is determined by the type of damage done to the nerves. The most severe type, avulsion, is caused when the nerve root is severed or cut from the spinal cord. There is also an incomplete form of avulsion in which part of the nerve is damaged and which leaves some opportunity for the nerve to slowly recover function. Neuropraxia, or stretch injury, is the mildest type of injury Neuropraxia damages the protective covering of the nerve, which causes problems with nerve signal conduction, but does not always damage the nerve underneath.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is short QT syndrome inherited ?"}, {"role": "assistant", "content": "Short QT syndrome appears to have an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Some affected individuals have a family history of short QT syndrome or related heart problems and sudden cardiac death. Other cases of short QT syndrome are classified as sporadic and occur in people with no apparent family history of related heart problems.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Hallermann-Streiff syndrome ?"}, {"role": "assistant", "content": "How might Hallermann-Streiff syndrome be treated? Treatment for Hallermann-Streiff syndrome depends on the specific signs and symptoms present in each affected individual. Early disease management for infants may include monitoring of breathing, consideration of tracheostomy, and various measures to improve feeding and ensure sufficient intake of nutrients. Although early surgical removal of cataracts may be recommended to help preserve vision, some studies have suggested that spontaneous cataract absorption may occur in up to 50% of untreated patients. Regular appointments with an ophthalmologist are strongly recommended to identify and treat other eye abnormalities, some of which may require surgical intervention. With respect to dental anomalies, natal/neonatal teeth (teeth present at birth) may be incorrectly diagnosed as extra teeth and there may be a tendency to extract them. However, the loss of teeth may worsen glossoptosis (posteriorly location of the tongue) or cause other complications. It has thus been recommended to preserve prematurely erupting teeth to facilitate eating until the existence of successional permanent teeth can be confirmed. Ensuring good dental hygiene is also important. Management of the condition may also include surgical reconstruction of certain craniofacial malformations (particularly the mandibular and nasal region) at the appropriate age. For some affected infants and children with heart defects, medical treatment and/or surgical intervention may be recommended.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Dry Mouth ?"}, {"role": "assistant", "content": "Certain cancer treatments can affect the salivary glands. Head and neck radiation therapy can cause the glands to produce little or no saliva. Chemotherapy may cause the salivary glands to produce thicker saliva, which makes the mouth feel dry and sticky.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Cryptogenic organizing pneumonia ?"}, {"role": "assistant", "content": "What are the signs and symptoms of cryptogenic organizing pneumonia? Signs and symptoms of cryptogenic organizing pneumonia (COP) vary but may include: Persistent nonproductive cough Difficult or labored breathing Fever Malaise Weight loss Hemoptysis (rare)", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Listeria Infections ?"}, {"role": "assistant", "content": "Listeriosis is a foodborne illness caused by Listeria monocytogenes, bacteria found in soil and water. It can be in a variety of raw foods as well as in processed foods and foods made from unpasteurized milk. Listeria is unlike many other germs because it can grow even in the cold temperature of the refrigerator. Symptoms include fever and chills, headache, upset stomach and vomiting. Treatment is with antibiotics. Anyone can get the illness. But it is most likely to affect pregnant women and unborn babies, older adults, and people with weak immune systems. To reduce your risk - Use precooked and ready-to-eat foods as soon as you can - Avoid raw milk and raw milk products - Heat ready-to-eat foods and leftovers until they are steaming hot - Wash fresh fruits and vegetables - Avoid rare meat and refrigerated smoked seafood Centers for Disease Control and Prevention", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Muir-Torre syndrome ?"}, {"role": "assistant", "content": "What causes Muir-Torre syndrome? Muir-Torre syndrome is a subtype of Lynch syndrome and may be caused by changes (mutations) in either the MLH1, MSH2, or MSH6 gene. These genes give the body instructions to make proteins needed for repairing DNA. The proteins help fix mistakes that are made when DNA is copied before cells divide. When one of these genes is mutated and causes the related protein to be absent or nonfunctional, the number of DNA mistakes that do not get repaired increases substantially. The affected cells do not function normally, increasing the risk of tumor formation. The MSH2 gene is responsible for MTS in the majority of cases. Mutations in MLH1 and MSH2 have the most severe effect. Not everyone diagnosed with MTS will have a detectable mutation in one of these genes. Other, unidentified genes may also play a role in the development of the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Microphthalmia syndromic 5 ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Microphthalmia syndromic 5? The Human Phenotype Ontology provides the following list of signs and symptoms for Microphthalmia syndromic 5. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cleft palate 5% Cryptorchidism 5% Ectopic posterior pituitary 5% Micropenis 5% Short stature 5% Autosomal dominant inheritance - Cataract - Coloboma - Joint laxity - Microcornea - Microphthalmia - Muscular hypotonia - Retinal dystrophy - Seizures - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) WaterhouseFriderichsen syndrome ?"}, {"role": "assistant", "content": "WaterhouseFriderichsen syndrome is adrenal gland failure due to bleeding into the adrenal gland. It is usually caused by severe meningococcal infection or other severe, bacterial infection. Symptoms include acute adrenal gland insufficiency, and profound shock. Most patients with this condition are children, although adults may rarely be affected. It is deadly if not treated immediately.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is ring chromosome 20 syndrome inherited ?"}, {"role": "assistant", "content": "Ring chromosome 20 syndrome is almost never inherited. A ring chromosome typically occurs as a random event during the formation of reproductive cells (eggs or sperm) or in early embryonic development. Often, the ring chromosome is present in only some of a person's cells. This situation is known as mosaicism. Most affected individuals have no history of the disorder in their families. However, at least one family has been reported in which a ring chromosome 20 was passed from a mother to her children.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Common variable immunodeficiency ?"}, {"role": "assistant", "content": "How might common variable immunodeficiency be treated? The main treatment for common variable immunodeficiency (CVID) is Ig replacement therapy, which stops the cycle of recurrent infections. Ig may be taken intravenously (through the vein) or subcutaneously (by injection). Adverse reactions to Ig must be monitored during therapy. Ig therapy is effective in most people, leading to less frequent infections and arthritic symptoms. However, gastrointestinal (digestive) symptoms have little improvement with IVIG. In some people wwith CVID and severe autoimmune disease, steroids or other immunosuppressive drugs in addition to Ig therapy may be needed. Detailed information about the management of CVID can be viewed on Medscape Reference's Web site.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for PRICKLE1-related progressive myoclonus epilepsy with ataxia ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of PRICKLE1-related progressive myoclonus epilepsy with ataxia: - Gene Review: Gene Review: PRICKLE1-Related Progressive Myoclonus Epilepsy with Ataxia - Genetic Testing Registry: Progressive myoclonus epilepsy with ataxia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Cant syndrome ?"}, {"role": "assistant", "content": "Cant syndrome is a rare condition characterized by excess hair growth (hypertrichosis), a distinctive facial appearance, heart defects, and several other abnormalities. The features of the disorder vary among affected individuals. People with Cant syndrome have thick scalp hair that extends onto the forehead and grows down onto the cheeks in front of the ears. They also have increased body hair, especially on the back, arms, and legs. Most affected individuals have a large head (macrocephaly) and distinctive facial features that are described as \"coarse.\" These include a broad nasal bridge, skin folds covering the inner corner of the eyes (epicanthal folds), and a wide mouth with full lips. As affected individuals get older, the face lengthens, the chin becomes more prominent, and the eyes become deep-set. Many infants with Cant syndrome are born with a heart defect such as an enlarged heart (cardiomegaly) or patent ductus arteriosus (PDA). The ductus arteriosus is a connection between two major arteries, the aorta and the pulmonary artery. This connection is open during fetal development and normally closes shortly after birth. However, the ductus arteriosus remains open, or patent, in babies with PDA. Other heart problems have also been found in people with Cant syndrome, including an abnormal buildup of fluid around the heart (pericardial effusion) and high blood pressure in the blood vessels that carry blood from the heart to the lungs (pulmonary hypertension). Additional features of this condition include distinctive skeletal abnormalities, a large body size (macrosomia) at birth, a reduced amount of fat under the skin (subcutaneous fat) beginning in childhood, deep horizontal creases in the palms of the hands and soles of the feet, and an increased susceptibility to respiratory infections. Other signs and symptoms that have been reported include abnormal swelling in the body's tissues (lymphedema), side-to-side curvature of the spine (scoliosis), and reduced bone density (osteopenia). Some affected children have weak muscle tone (hypotonia) that delays the development of motor skills such as sitting, standing, and walking. Most have mildly delayed speech, and some affected children have mild intellectual disability or learning problems.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to ichthyosis with confetti ?"}, {"role": "assistant", "content": "Mutations in the KRT10 gene cause ichthyosis with confetti. This gene provides instructions for making a protein called keratin 10, which is found in cells called keratinocytes in the outer layer of the skin (the epidermis). In the fluid-filled space inside these cells (the cytoplasm), this tough, fibrous protein attaches to another keratin protein (produced from a different gene) to form fibers called intermediate filaments. These filaments assemble into strong networks that provide strength and resiliency to the skin. KRT10 gene mutations associated with ichthyosis with confetti alter the keratin 10 protein. The altered protein is abnormally transported to the nucleus of cells, where it cannot form networks of intermediate filaments. Loss of these networks disrupts the epidermis, contributing to the red, scaly skin. However, in some abnormal cells, the mutated gene corrects itself through a complex process by which genetic material is exchanged between chromosomes. As a result, normal keratin 10 protein is produced and remains in the cytoplasm. The cell becomes normal and, as it continues to grow and divide, forms small patches of normal skin that give ichthyosis with confetti its name.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) guanidinoacetate methyltransferase deficiency ?"}, {"role": "assistant", "content": "Guanidinoacetate methyltransferase deficiency is an inherited disorder that primarily affects the brain and muscles. Without early treatment, people with this disorder have neurological problems that are usually severe. These problems include intellectual disability, speech development limited to a few words, and recurrent seizures (epilepsy). Affected individuals may also exhibit autistic behaviors that affect communication and social interaction or self-injurious behaviors such as head-banging. Other features of this disorder can include involuntary movements (extrapyramidal dysfunction) such as tremors or facial tics. People with guanidinoacetate methyltransferase deficiency may have weak muscle tone and delayed development of motor skills such as sitting or walking. In severe cases they may lose previously acquired skills such as the ability to support their head or to sit unsupported.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to Moebius syndrome ?"}, {"role": "assistant", "content": "The causes of Moebius syndrome are unknown, although the condition probably results from a combination of environmental and genetic factors. Researchers are working to identify and describe specific genes related to this condition. The disorder appears to be associated with changes in particular regions of chromosomes 3, 10, or 13 in some families. Certain medications taken during pregnancy and abuse of drugs such as cocaine may also be risk factors for Moebius syndrome. Many of the signs and symptoms of Moebius syndrome result from the absence or underdevelopment of cranial nerves VI and VII. These nerves, which emerge from the brainstem at the back of the brain, control back-and-forth eye movement and facial expressions. The disorder can also affect other cranial nerves that are important for speech, chewing, and swallowing. Abnormal development of cranial nerves leads to the facial muscle weakness or paralysis that is characteristic of Moebius syndrome. Researchers speculate that Moebius syndrome may result from changes in blood flow to the brainstem during early stages of embryonic development. However, it is unclear what causes these changes to occur and why they specifically disrupt the development of cranial nerves VI and VII. Even less is known about the causes of some other signs and symptoms of this condition, including hand and foot abnormalities.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Potassium aggravated myotonia ?"}, {"role": "assistant", "content": "Potassium aggravated myotonia is a group of diseases that causes tensing and stiffness (myotonia) of skeletal muscles, which are the muscles used for movement. The three types of potassium-aggravated myotonia include myotonia fluctuans, myotonia permanens, and acetazolamide-sensitive myotonia. Potassium aggravated myotonia is different from other types of myotonia because symptoms get worse when an affected individual eats food that is rich in potassium. Symptoms usually develop during childhood and vary, ranging from infrequent mild episodes to long periods of severe disease. Potassium aggravated myotonia is an inherited condition that is caused by changes (mutations) in the SCN4A gene. Treatment begins with avoiding foods that contain large amounts of potassium; other treatments may include physical therapy (stretching or massages to help relax muscles) or certain medications (such as mexiletine, carbamazapine, or acetazolamide).", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Behr syndrome ?"}, {"role": "assistant", "content": "Behr syndrome is a disorder mainly characterized by early-onset optic atrophy, ataxia, and spasticity. Other signs and symptoms may be present and vary from person to person. Although the exact cause is unknown, the syndrome is believed to be genetic and inherited in an autosomal recessive fashion, in most cases. Autosomal dominant inheritance has been reported in one family. Treatment depends on the specific signs and symptoms seen in the patient.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Juvenile myoclonic epilepsy ?"}, {"role": "assistant", "content": "How might juvenile myoclonic epilepsy be treated? Avoidance of precipitating events such as alcohol use and sleep deprivation may be useful but is not sufficient to control the seizures of juvenile myoclonic epilepsy. Medical therapy with anticonvulsants is typically needed and well tolerated. The majority of patients can be well controlled on a single drug, most commonly valproic acid or lamotrigine or possibly topiramate. More details about the medications used to treat juvenile myoclonic epilepsy can be found at the following link. http://emedicine.medscape.com/article/1185061-treatment", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Tourette syndrome ?"}, {"role": "assistant", "content": "Tourette syndrome is a complex disorder characterized by repetitive, sudden, and involuntary movements or noises called tics. Tics usually appear in childhood, and their severity varies over time. In most cases, tics become milder and less frequent in late adolescence and adulthood. Tourette syndrome involves both motor tics, which are uncontrolled body movements, and vocal or phonic tics, which are outbursts of sound. Some motor tics are simple and involve only one muscle group. Simple motor tics, such as rapid eye blinking, shoulder shrugging, or nose twitching, are usually the first signs of Tourette syndrome. Motor tics also can be complex (involving multiple muscle groups), such as jumping, kicking, hopping, or spinning. Vocal tics, which generally appear later than motor tics, also can be simple or complex. Simple vocal tics include grunting, sniffing, and throat-clearing. More complex vocalizations include repeating the words of others (echolalia) or repeating one's own words (palilalia). The involuntary use of inappropriate or obscene language (coprolalia) is possible, but uncommon, among people with Tourette syndrome. In addition to frequent tics, people with Tourette syndrome are at risk for associated problems including attention deficit hyperactivity disorder (ADHD), obsessive-compulsive disorder (OCD), anxiety, depression, and problems with sleep.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Glucose transporter type 1 deficiency syndrome inherited ?"}, {"role": "assistant", "content": "Is glucose transporter type 1 deficiency syndrome inherited? Glucose transporter type 1 deficiency syndrome (GLUT1 deficiency syndrome) is inherited in an autosomal dominant manner. This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene. These cases occur in people with no history of the disorder in their family. A person with GLUT1 deficiency syndrome has a 50% chance with each pregnancy of passing along the altered gene to his or her child.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Hereditary hemorrhagic telangiectasia type 4 ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Hereditary hemorrhagic telangiectasia type 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary hemorrhagic telangiectasia type 4. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Epistaxis 90% Telangiectasia of the skin 90% Cavernous hemangioma 50% Microcytic anemia 50% Migraine 50% Portal hypertension 50% Spontaneous hematomas 50% Visceral angiomatosis 50% Abnormality of coagulation 7.5% Abnormality of the retinal vasculature 7.5% Biliary tract abnormality 7.5% Cerebral ischemia 7.5% Cirrhosis 7.5% Congestive heart failure 7.5% Conjunctival telangiectasia 7.5% Esophageal varix 7.5% Gastrointestinal hemorrhage 7.5% Hematuria 7.5% Hemoptysis 7.5% Hepatic failure 7.5% Intestinal polyposis 7.5% Nephrolithiasis 7.5% Peripheral arteriovenous fistula 7.5% Pulmonary embolism 7.5% Pulmonary hypertension 7.5% Seizures 7.5% Thrombophlebitis 7.5% Visual impairment 7.5% Arteriovenous fistulas of celiac and mesenteric vessels - Autosomal dominant inheritance - Celiac artery aneurysm - Cerebral arteriovenous malformation - Cerebral hemorrhage - Cyanosis - Dyspnea - High-output congestive heart failure - Ischemic stroke - Lip telangiectasia - Mesenteric artery aneurysm - Nasal mucosa telangiectasia - Palate telangiectasia - Pulmonary arteriovenous malformation - Right-to-left shunt - Spinal arteriovenous malformation - Spontaneous, recurrent epistaxis - Subarachnoid hemorrhage - Tongue telangiectasia - Transient ischemic attack - Venous varicosities of celiac and mesenteric vessels - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Rett syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Rett syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Rett syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the voice 90% Developmental regression 90% Gait disturbance 90% Neurological speech impairment 90% Stereotypic behavior 90% Abnormality of the eye 50% Cerebral cortical atrophy 50% Hypertonia 50% Incoordination 50% Kyphosis 50% Muscle weakness 50% Respiratory insufficiency 50% Scoliosis 50% Seizures 50% Sleep disturbance 50% Tremor 50% Abnormality of the autonomic nervous system 7.5% Apnea 7.5% Arrhythmia 7.5% Autism 7.5% Hemiplegia/hemiparesis 7.5% Hepatomegaly 7.5% Limitation of joint mobility 7.5% Microcephaly 7.5% Reduced bone mineral density 7.5% Self-injurious behavior 7.5% Skeletal muscle atrophy 7.5% Abnormality of the teeth - Autistic behavior - Bruxism - Cachexia - Constipation - Dystonia - EEG abnormality - EKG: T-wave abnormalities - Gait apraxia - Gait ataxia - Gastroesophageal reflux - Intellectual disability, profound - Intermittent hyperventilation - Motor deterioration - Postnatal microcephaly - Prolonged QTc interval - Short foot - Short stature - Spasticity - Truncal ataxia - X-linked dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by mucolipidosis II alpha/beta ?"}, {"role": "assistant", "content": "Mucolipidosis II alpha/beta is a rare disorder, although its exact prevalence is unknown. It is estimated to occur in about 1 in 100,000 to 400,000 individuals worldwide.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to prevent Mitral Valve Prolapse ?"}, {"role": "assistant", "content": "You can't prevent mitral valve prolapse (MVP). Most people who have the condition are born with it.\n \nComplications from MVP, such as arrhythmias (irregular heartbeats) and infective endocarditis (IE), are rare. IE is an infection of the inner lining of your heart chambers and valves.\n \nPeople at high risk for IE may be given antibiotics before some types of surgery and dental work. Antibiotics can help prevent IE. Your doctor will tell you whether you need this type of treatment.\n \nPeople at high risk for IE may include those who've had valve repair or replacement or who have some types of underlying heart disease.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Uterine Sarcoma ?"}, {"role": "assistant", "content": "Key Points\n - There are different types of treatment for patients with uterine sarcoma. - Four types of standard treatment are used: - Surgery - Radiation therapy - Chemotherapy - Hormone therapy - New types of treatment are being tested in clinical trials. - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed.\n \n \n There are different types of treatment for patients with uterine sarcoma.\n Different types of treatments are available for patients with uterine sarcoma. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Patients may want to think about taking part in a clinical trial. Some clinical trials are open only to patients who have not started treatment.\n \n \n Four types of standard treatment are used:\n Surgery Surgery is the most common treatment for uterine sarcoma, as described in the Stages of Uterine Sarcoma section of this summary. Even if the doctor removes all the cancer that can be seen at the time of the surgery, some patients may be given chemotherapy or radiation therapy after surgery to kill any cancer cells that are left. Treatment given after the surgery, to lower the risk that the cancer will come back, is called adjuvant therapy. Radiation therapy Radiation therapy is a cancer treatment that uses high energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy: - External radiation therapy uses a machine outside the body to send radiation toward the cancer. - Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. The way the radiation therapy is given depends on the type and stage of the cancer being treated. External and internal radiation therapy are used to treat uterine sarcoma, and may also be used as palliative therapy to relieve symptoms and improve quality of life. Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). The way the chemotherapy is given depends on the type and stage of the cancer being treated. Hormone therapy Hormone therapy is a cancer treatment that removes hormones or blocks their action and stops cancer cells from growing. Hormones are substances produced by glands in the body and circulated in the bloodstream. Some hormones can cause certain cancers to grow. If tests show the cancer cells have places where hormones can attach (receptors), drugs, surgery, or radiation therapy is used to reduce the production of hormones or block them from working.\n \n \n New types of treatment are being tested in clinical trials.\n Information about clinical trials is available from the NCI website.\n \n \n Patients may want to think about taking part in a clinical trial.\n For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward.\n \n \n Patients can enter clinical trials before, during, or after starting their cancer treatment.\n Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.\n \n \n Follow-up tests may be needed.\n Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups.\n \n\t\t \n\t\t Treatment Options by Stage\n\t\t \n\t\t \n\t\t Stage I Uterine Sarcoma\n\t\t Treatment of stage I uterine sarcoma may include the following: - Surgery (total abdominal hysterectomy, bilateral salpingo-oophorectomy, and lymphadenectomy). - Surgery followed by radiation therapy to the pelvis. - Surgery followed by chemotherapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage I uterine sarcoma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.\n\t\t \n\t\t \n\t\t Stage II Uterine Sarcoma\n\t\t Treatment of stage II uterine sarcoma may include the following: - Surgery (total abdominal hysterectomy, bilateral salpingo-oophorectomy, and lymphadenectomy). - Surgery followed by radiation therapy to the pelvis. - Surgery followed by chemotherapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage II uterine sarcoma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.\n\t\t \n\t\t \n\t\t Stage III Uterine Sarcoma\n\t\t Treatment of stage III uterine sarcoma may include the following: - Surgery (total abdominal hysterectomy, bilateral salpingo-oophorectomy, and lymphadenectomy). - A clinical trial of surgery followed by radiation therapy to the pelvis. - A clinical trial of surgery followed by chemotherapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage III uterine sarcoma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.\n\t\t \n\t\t \n\t\t Stage IV Uterine Sarcoma\n\t\t There is no standard treatment for patients with stage IV uterine sarcoma. Treatment may include a clinical trial using chemotherapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage IV uterine sarcoma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by fragile XE syndrome ?"}, {"role": "assistant", "content": "Fragile XE syndrome is estimated to affect 1 in 25,000 to 100,000 newborn males. Only a small number of affected females have been described in the medical literature. Because mildly affected individuals may never be diagnosed, it is thought that the condition may be more common than reported.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by rheumatoid arthritis ?"}, {"role": "assistant", "content": "Rheumatoid arthritis affects about 1.3 million adults in the United States. Worldwide, it is estimated to occur in up to 1 percent of the population. The disease is two to three times more common in women than in men, which may be related to hormonal factors.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Lichen sclerosus ?"}, {"role": "assistant", "content": "What causes lichen sclerosus? The underlying cause of lichen sclerosus is not fully understood. The condition may be due to genetic, hormonal, irritant and/or infectious factors (or a combination of these factors). It is believed to relate to an autoimmune process, in which antibodies mistakenly attack a component of the skin. Other autoimmune conditions are reported to occur more frequently than expected in people with lichen sclerosis. In some cases, lichen sclerosus appears on skin that has been damaged or scarred from previous injury or trauma.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "what research (or clinical trials) is being done for Meningitis and Encephalitis ?"}, {"role": "assistant", "content": "The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. The NINDS is a component of the National Institutes of Health, the leading supporter of biomedical research in the world. Current research efforts include gaining a better understanding of how the central nervous system responds to inflammation in the brain, as well as to better understand the molecular mechanisms involved in the protection and disruption of the blood-brain barrier, which could lead to the development of new treatments for several neuroinflammatory diseases such as meningitis and encephalitis.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is the outlook for Gerstmann-Straussler-Scheinker Disease ?"}, {"role": "assistant", "content": "GSS is a slowly progressive condition usually lasting from 2 to 10 years. The disease ultimately causes severe disability and finally death, often after the patient goes into a coma or has a secondary infection such as aspiration pneumonia due to an impaired ability to swallow.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Pompe Disease ?"}, {"role": "assistant", "content": "Pompe disease is a rare (estimated at 1 in every 40,000 births), inherited and often fatal disorder that disables the heart and skeletal muscles. It is caused by mutations in a gene that makes an enzyme called acid alpha-glucosidase (GAA). Normally, the body uses GAA to break down glycogen, a stored form of sugar used for energy. The enzyme performs its function in intracellular compartments called lysosomes. Lysosomes are known to function as cellular clearinghouses; they ingest multiple substances including glycogen, which is converted by the GAA into glucose, a sugar that fuels muscles. In Pompe disease, mutations in the GAA gene reduce or completely eliminate this essential enzyme. Excessive amounts of lysosomal glycogen accumulate everywhere in the body, but the cells of the heart and skeletal muscles are the most seriously affected. Researchers have identified up to 300 different mutations in the GAA gene that cause the symptoms of Pompe disease, which can vary widely in terms of age of onset and severity. The severity of the disease and the age of onset are related to the degree of enzyme deficiency.\n \nEarly onset (or the infantile form) is the result of complete or near complete deficiency of GAA. Symptoms begin in the first months of life, with feeding problems, poor weight gain, muscle weakness, floppiness, and head lag. Respiratory difficulties are often complicated by lung infections. The heart is grossly enlarged. Many infants with Pompe disease also have enlarged tongues. Most babies die from cardiac or respiratory complications before their first birthday.\n \nLate onset (or juvenile/adult) Pompe disease is the result of a partial deficiency of GAA. The onset can be as early as the first decade of childhood or as late as the sixth decade of adulthood. The primary symptom is muscle weakness progressing to respiratory weakness and death from respiratory failure after a course lasting several years. The heart is usually not involved. A diagnosis of Pompe disease can be confirmed by screening for the common genetic mutations or measuring the level of GAA enzyme activity in a blood sample. Once Pompe disease is diagnosed, testing of all family members and a consultation with a professional geneticist are recommended. Carriers are most reliably identified via genetic mutation analysis.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes What I need to know about Gas ?"}, {"role": "assistant", "content": "Most foods that contain carbohydrates can cause gas. Foods that cause gas for one person may not cause gas for someone else. Some foods that contain carbohydrates and may cause gas are\n \n- beans - vegetables such as broccoli, cauliflower, cabbage, brussels sprouts, onions, mushrooms, artichokes, and asparagus - fruits such as pears, apples, and peaches - whole grains such as whole wheat and bran - sodas; fruit drinks, especially apple juice and pear juice; and other drinks that contain high fructose corn syrup, a sweetener made from corn - milk and milk products such as cheese, ice cream, and yogurt - packaged foodssuch as bread, cereal, and salad dressingthat contain small amounts of lactose, the sugar found in milk and foods made with milk - sugar-free candies and gums that contain sugar alcohols such as sorbitol, mannitol, and xylitol", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Adenoameloblastoma ?"}, {"role": "assistant", "content": "Adenoameloblastoma is a lesion that is often found in the upper jaw. Some consider it a non-cancerous tumor, others a hamartoma (tumor-like growth) or cyst. Often, an early sign of the lesion is painless swelling. These tumors are rarely found outside of the jaw.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Do you have information about Medical Device Safety"}, {"role": "assistant", "content": "Summary : A medical device is any product used to diagnose, cure, or treat a condition, or to prevent disease. They range from small and simple, like a blood glucose meter, to large and complicated, like a ventilator. You might use one at home or at work, or you may need one in a hospital. To use medical devices safely - Know how your device works. Keep instructions close by - Understand and properly respond to device alarms - Have a back-up plan and supplies in the event of an emergency - Keep emergency numbers available and update them as needed - Educate your family and caregivers about your device Food and Drug Administration", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Bannayan-Riley-Ruvalcaba syndrome ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of Bannayan-Riley-Ruvalcaba syndrome: - Gene Review: Gene Review: PTEN Hamartoma Tumor Syndrome (PHTS) - Genetic Testing Registry: Bannayan-Riley-Ruvalcaba syndrome - University of Iowa: Bannayan-Ruvalcaba-Riley Syndrome (BRRS): A Guide for Patients and Their Families These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Nance-Horan syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Nance-Horan syndrome? The main features of Nance-Horan syndrome include congenital cataracts, dental abnormalities, distinctive facial features, and in some cases, intellectual disability. In affected males, the primary physical characteristic is the presence of dense clouding of the lens (cornea) of both eyes at birth (congenital bilateral cataracts). The cataracts usually result in blurred vision and severely decreased clearness or clarity of vision (visual acuity). Vision loss can potentially be profound. Males with Nance-Horan syndrome may have additional eye abnormalities, including a very small cornea (microcornea); involuntary movements of the eyes (nystagmus), and/or misalignment of the eyes (strabismus). In some cases, the entire eye may be abnormally small (microphthalmia) and/or the upper eyelid may droop (ptosis). Males with Nance-Horan syndrome may also have several dental abnormalities such as unusually shaped, extra (supernumerary) teeth, absence of some teeth (dental agenesis), impacted teeth or unusually wide spaces (diastema) between some of the teeth. The front teeth, or incisors, are usually tapered and 'screwdriver-shaped'. The teeth in the back of the mouth may be cone-shaped, rounded, or cylindrical. In many males with Nance-Horan syndrome, other physical findings may also occur. Distinctive facial features may be present, but may be subtle. The ears may be flared forward and unusually prominent. Affected males may also have a large, prominent nose with a high, narrow nasal bridge, a narrow prominent jaw, and sometimes a long, narrow face. Some males with Nance-Horan syndrome may also experience delays the skills necessary for coordinating muscular and mental activity. In addition, some reports suggest that approximately 20 to 30 percent of affected males may have varying levels of intellectual disability, which is usually mild to moderate; but in some cases can be severe. Females who carry a single copy of the mutation in the NHS gene may develop some symptoms of the disorder. However, symptoms are usually milder and more variable than those seen in males. Affected females may have abnormally small corneas (microcornea) and/or some clouding of the cornea. Vision may be normal, or there may be slightly decreased visual acuity. Without appropriate treatment, clouding of the cornea can lead to total cataracts later in life. Females often have some dental abnormalities, such as abnormally-shaped front teeth and/or unusually wide spaces between some of the teeth. Affected females usually do not develop intellectual disability. The Human Phenotype Ontology provides the following list of signs and symptoms for Nance-Horan syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal nasal morphology 90% Cataract 90% Long face 90% Mandibular prognathia 90% Microcornea 90% Nystagmus 90% Prominent nasal bridge 90% Visual impairment 90% Intellectual disability, moderate 80% Abnormality of the metacarpal bones 50% Cognitive impairment 50% Increased number of teeth 50% Strabismus 50% Aplasia/Hypoplasia affecting the eye 7.5% Behavioral abnormality 7.5% Glaucoma 7.5% Retinal detachment 7.5% Autism - Broad finger - Congenital cataract - Diastema - Macrotia - Microphthalmia - Narrow face - Posterior Y-sutural cataract - Prominent nose - Screwdriver-shaped incisors - Short phalanx of finger - Supernumerary maxillary incisor - Visual loss - X-linked dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Rasmussen's Encephalitis ?"}, {"role": "assistant", "content": "Rasmussens encephalitis is a rare, chronic inflammatory neurological disease that usually affects only one hemisphere of the brain. It usually occurs in children under the age of 10 (more rarely in adolescents and adults), and is characterized by frequent and severe seizures, loss of motor skills and speech, paralysis on one side of the body (hemiparesis), inflammation of the brain (encephalitis), and mental deterioration. Most individuals with Rasmussens encephalitis will experience frequent seizures and progressive brain damage in the affected hemisphere of the brain over the course of the first 8 to 12 months, and then enter a phase of permanent, but stable, neurological deficits. Rasmussens encephalitis has features of an autoimmune disease in which immune system cells enter the brain and cause inflammation and damage.Research is ongoing into the causes of this rare disease.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Lung Diseases ?"}, {"role": "assistant", "content": "When you breathe, your lungs take in oxygen from the air and deliver it to the bloodstream. The cells in your body need oxygen to work and grow. During a normal day, you breathe nearly 25,000 times. People with lung disease have difficulty breathing. Millions of people in the U.S. have lung disease. If all types of lung disease are lumped together, it is the number three killer in the United States. The term lung disease refers to many disorders affecting the lungs, such as asthma, COPD, infections like influenza, pneumonia and tuberculosis, lung cancer, and many other breathing problems. Some lung diseases can lead to respiratory failure. Dept. of Health and Human Services Office on Women's Health", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by celiac disease ?"}, {"role": "assistant", "content": "Celiac disease is a common disorder. Its prevalence has been estimated at about 1 in 100 people worldwide.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "what research (or clinical trials) is being done for Hypersomnia ?"}, {"role": "assistant", "content": "The NINDS supports and conducts research on sleep disorders such as hypersomnia. The goal of this research is to increase scientific understanding of the condition, find improved methods of diagnosing and treating it, and discover ways to prevent it.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by Brugada syndrome ?"}, {"role": "assistant", "content": "The exact prevalence of Brugada syndrome is unknown, although it is estimated to affect 5 in 10,000 people worldwide. This condition occurs much more frequently in people of Asian ancestry, particularly in Japanese and Southeast Asian populations. Although Brugada syndrome affects both men and women, the condition appears to be 8 to 10 times more common in men. Researchers suspect that testosterone, a sex hormone present at much higher levels in men, may account for this difference.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) De Barsy syndrome ?"}, {"role": "assistant", "content": "De Barsy syndrome is a rare genetic disorder characterized mainly by a prematurely aged-looking face (progeria); cloudy corneas; short stature; and intellectual disability. Affected individuals can have a wide variety of other signs and symptoms, including loose skin folds due to reduced elasticity (cutis laxa); poor muscle tone (hypotonia); movement disorders; and other features that involve the eyes, face, skin and nervous system. The genetic cause of the condition is not known in most cases, but it is inherited in an autosomal recessive manner. Treatment generally focuses on the signs and symptoms present in each individual and may include early eye surgery and physiotherapy to avoid contractures.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Who is at risk for Overweight and Obesity? ?"}, {"role": "assistant", "content": "Being overweight or obese isn't a cosmetic problem. These conditions greatly raise your risk for other health problems.\n \nOverweight and Obesity-Related Health Problems in Adults\n \nCoronary Heart Disease\n \nAs your body mass index rises, so does your risk for coronary heart disease (CHD). CHD is a condition in which a waxy substance called plaque (plak) builds up inside the coronary arteries. These arteries supply oxygen-rich blood to your heart.\n \nPlaque can narrow or block the coronary arteries and reduce blood flow to the heart muscle. This can cause angina (an-JI-nuh or AN-juh-nuh) or a heart attack. (Angina is chest pain or discomfort.)\n \nObesity also can lead to heart failure. This is a serious condition in which your heart can't pump enough blood to meet your body's needs.\n \nHigh Blood Pressure\n \nBlood pressure is the force of blood pushing against the walls of the arteries as theheart pumps blood. If this pressure rises and stays high over time, it can damage the body in many ways.\n \nYour chances of having high blood pressure are greater if you're overweight or obese.\n \nStroke\n \nBeing overweight or obese can lead to a buildup of plaque in your arteries. Eventually, an area of plaque can rupture, causing a blood clot to form.\n \nIf the clot is close to your brain, it can block the flow of blood and oxygen to your brain and cause a stroke. The risk of having a stroke rises as BMI increases.\n \nType 2 Diabetes\n \nDiabetes is a disease in which the body's blood glucose, or blood sugar, level is too high. Normally, the body breaks down food into glucose and then carries it to cells throughout the body. The cells use a hormone called insulin to turn the glucose into energy.\n \nIn type 2 diabetes, the body's cells don't use insulin properly. At first, the body reacts by making more insulin. Over time, however, the body can't make enough insulin to control its blood sugar level.\n \nDiabetes is a leading cause of early death, CHD, stroke, kidney disease, and blindness. Most people who have type 2 diabetes are overweight.\n \nAbnormal Blood Fats\n \nIf you're overweight or obese, you're at increased risk of having abnormal levels of blood fats. These include high levels of triglycerides and LDL (\"bad\") cholesterol and low levels of HDL (\"good\") cholesterol.\n \nAbnormal levels of these blood fats are a risk factor for CHD. For more information about triglycerides and LDL and HDL cholesterol, go to the Health Topics High Blood Cholesterol article.\n \nMetabolic Syndrome\n \nMetabolic syndrome is the name for a group of risk factors that raises your risk for heart disease and other health problems, such as diabetes and stroke.\n \nYou can develop any one of these risk factors by itself, but they tend to occur together. A diagnosis of metabolic syndrome is made if you have at least three of the following risk factors:\n \nA large waistline. This is called abdominal obesity or \"having an apple shape.\" Having extra fat in the waist area is a greater risk factor for CHD than having extra fat in other parts of the body, such as on the hips.\n \nA higher than normal triglyceride level (or you're on medicine to treat high triglycerides).\n \nA lower than normal HDL cholesterol level (or you're on medicine to treat low HDL cholesterol).\n \nHigher than normal blood pressure (or you're on medicine to treat high blood pressure).\n \nHigher than normal fasting blood sugar (or you're on medicine to treat diabetes).\n \nCancer\n \nBeing overweight or obese raises your risk for colon, breast, endometrial, and gallbladder cancers.\n \nOsteoarthritis\n \nOsteoarthritis is a common joint problem of the knees, hips, and lower back. The condition occurs if the tissue that protects the joints wears away. Extra weight can put more pressure and wear on joints, causing pain.\n \nSleep Apnea\n \nSleep apnea is a common disorder in which you have one or more pauses in breathing or shallow breaths while you sleep.\n \nA person who has sleep apnea may have more fat stored around the neck. This can narrow the airway, making it hard to breathe.\n \nObesity Hypoventilation Syndrome\n \nObesity hypoventilation syndrome (OHS) is a breathing disorder that affects some obese people. In OHS, poor breathing results in too much carbon dioxide (hypoventilation) and too little oxygen in the blood (hypoxemia).\n \nOHS can lead to serious health problems and may even cause death.\n \nReproductive Problems\n \nObesity can cause menstrual issues and infertility in women.\n \nGallstones\n \nGallstones are hard pieces of stone-like material that form in the gallbladder. They're mostly made of cholesterol. Gallstones can cause stomach or back pain.\n \nPeople who are overweight or obese are at increased risk of having gallstones. Also, being overweight may result in an enlarged gallbladder that doesn't work well.\n \nOverweight and Obesity-Related Health Problems in Children and Teens\n \nOverweight and obesity also increase the health risks for children and teens. Type2 diabetes once was rare in American children, but an increasing number of children are developing the disease.\n \nAlso, overweight children are more likely to become overweight or obese as adults, with the same disease risks.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for fibrodysplasia ossificans progressiva ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of fibrodysplasia ossificans progressiva: - Genetic Testing Registry: Progressive myositis ossificans These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Acanthamoeba - Granulomatous Amebic Encephalitis (GAE); Keratitis ?"}, {"role": "assistant", "content": "Early diagnosis is essential for effective treatment of Acanthamoeba keratitis. The infection is usually diagnosed by an eye specialist based on symptoms, growth of the ameba from a scraping of the eye, and/or seeing the ameba by a process called confocal microscopy.\n \nGranulomatous Amebic Encephalitis (GAE) and disseminated infection are more difficult to diagnose and are often at advanced stages when they are diagnosed. Tests useful in the diagnosis of GAE include brain scans, biopsies, or spinal taps. In disseminated disease, biopsy of the involved sites (e.g. , skin, sinuses) can be useful in diagnosis.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) X-linked agammaglobulinemia ?"}, {"role": "assistant", "content": "X-linked agammaglobulinemia (XLA) is a condition that affects the immune system and occurs almost exclusively in males. People with XLA have very few B cells, which are specialized white blood cells that help protect the body against infection. B cells can mature into the cells that produce special proteins called antibodies or immunoglobulins. Antibodies attach to specific foreign particles and germs, marking them for destruction. Individuals with XLA are more susceptible to infections because their body makes very few antibodies. Children with XLA are usually healthy for the first 1 or 2 months of life because they are protected by antibodies acquired before birth from their mother. After this time, the maternal antibodies are cleared from the body, and the affected child begins to develop recurrent infections. In children with XLA, infections generally take longer to get better and then they come back again, even with antibiotic medications. The most common bacterial infections that occur in people with XLA are lung infections (pneumonia and bronchitis), ear infections (otitis), pink eye (conjunctivitis), and sinus infections (sinusitis). Infections that cause chronic diarrhea are also common. Recurrent infections can lead to organ damage. People with XLA can develop severe, life-threatening bacterial infections; however, affected individuals are not particularly vulnerable to infections caused by viruses. With treatment to replace antibodies, infections can usually be prevented, improving the quality of life for people with XLA.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Pyridoxine-dependent epilepsy ?"}, {"role": "assistant", "content": "How might pyridoxine-dependent epilepsy be treated? Anticonvulsant drugs, which are usually given to control seizures, are ineffective in people with pyridoxine-dependent epilepsy. Instead, people with this type of seizure are medically treated with large daily doses of pyridoxine (a type of vitamin B6 found in food). Recent studies have focused on using a lysine-restricted diet in addition to pyridoxine. Preliminary results suggest that this treatment has the potential to help control seizures and improve developmental outcomes in children with pyridoxine-dependent epilepsy.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is the outlook for Essential Thrombocythemia ?"}, {"role": "assistant", "content": "Certain factors affect prognosis (chance of recovery) and treatment options for essential thrombocythemia. Prognosis (chance of recovery) and treatment options depend on the following: - The age of the patient. - Whether the patient has signs or symptoms or other problems related to essential thrombocythemia.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Asthma ?"}, {"role": "assistant", "content": "Asthma is a chronic disease that affects your airways. Your airways are tubes that carry air in and out of your lungs. If you have asthma, the inside walls of your airways become sore and swollen. That makes them very sensitive, and they may react strongly to things that you are allergic to or find irritating. When your airways react, they get narrower and your lungs get less air. Symptoms of asthma include - Wheezing - Coughing, especially early in the morning or at night - Chest tightness - Shortness of breath Not all people who have asthma have these symptoms. Having these symptoms doesn't always mean that you have asthma. Your doctor will diagnose asthma based on lung function tests, your medical history, and a physical exam. You may also have allergy tests. When your asthma symptoms become worse than usual, it's called an asthma attack. Severe asthma attacks may require emergency care, and they can be fatal. Asthma is treated with two kinds of medicines: quick-relief medicines to stop asthma symptoms and long-term control medicines to prevent symptoms. NIH: National Heart, Lung, and Blood Institute", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Premature Ovarian Failure ?"}, {"role": "assistant", "content": "Premature ovarian failure (POF) is when a woman's ovaries stop working before she is 40. POF is different from premature menopause. With premature menopause, your periods stop before age 40. You can no longer get pregnant. The cause can be natural or it can be a disease, surgery, chemotherapy, or radiation. With POF, some women still have occasional periods. They may even get pregnant. In most cases of POF, the cause is unknown. Missed periods are usually the first sign of POF. Later symptoms may be similar to those of natural menopause: - Hot flashes - Night sweats - Irritability - Poor concentration - Decreased sex drive - Pain during sex - Vaginal dryness Doctors diagnose POF by doing a physical exam and lab and imaging tests. Most women with POF cannot get pregnant naturally. Fertility treatments help a few women; others use donor eggs to have children. There is no treatment that will restore normal ovarian function. However, many health care providers suggest taking hormones until age 50. NIH: National Institute of Child Health and Human Development", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Parasites - African Trypanosomiasis (also known as Sleeping Sickness) ?"}, {"role": "assistant", "content": "All persons diagnosed with African Trypanosomiasis should receive treatment. The specific drug and treatment course will depend on the type of infection (T. b. gambiense or T. b. rhodesiense) and the disease stage (i.e. whether the central nervous system has been invaded by the parasite). Pentamidine, which is the recommended drug for first stage T. b. gambiense infection, is widely available in the U.S. The other drugs (suramin, melarsoprol, eflornithine, and nifurtimox) used to treat African trypanosomiasis are available in the U.S. only from the CDC. Physicians can consult with CDC staff for advice on diagnosis and management and to obtain otherwise unavailable treatment drug.\n \nThere is no test of cure for African trypanosomiasis. After treatment patients need to have serial examinations of their cerebrospinal fluid for 2 years, so that relapse can be detected if it occurs.\n \nMore on: Resources for Health Professionals: Treatment", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Familial pemphigus vulgaris ?"}, {"role": "assistant", "content": "Familial pemphigus vulgaris refers to a cluster of pemphigus vulgaris within a family. Pemphigus vulgaris is a rare autoimmune condition that is characterized by blisters and sores on the skin and mucus membranes. Although the exact cause of familial pemphigus vulgaris is unknown, autoimmune conditions generally occur when the body's immune system mistakenly attacks healthy tissue (in this case, the skin and mucus membranes). Most cases of pemphigus vulgaris occur sporadically in people with no family history of the condition; however, rare reports exist of \"familial\" cases which affect more than one member of a single family. In these cases, the underlying genetic cause is unknown, although an association between pemphigus vulgaris and certain HLA antigens has been identified. Treatment generally includes medications and other strategies to decrease blister formation, prevent infections and promote healing.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Hajdu-Cheney syndrome ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of Hajdu-Cheney syndrome: - Genetic Testing Registry: Hajdu-Cheney syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Turner syndrome inherited ?"}, {"role": "assistant", "content": "Is Turner syndrome inherited? Most cases of Turner syndrome are not inherited. Most commonly, Turner syndrome occurs due to a random event during the formation of an egg or sperm cell in a parent (prior to conception). For example, if an egg or sperm cell mistakenly loses a sex chromosome, and joins at conception with an egg or sperm containing an X chromosome, the resulting child will have a single X chromosome in each cell. Mosaic Turner syndrome, occurring when a person has some cells with one X chromosome and some cells with two sex chromosomes, is also not inherited. This also occurs due to a random event, during early fetal development rather than before conception. In rare cases, Turner syndrome may be caused by a missing piece (partial deletion) of the X chromosome. A deletion can be inherited from a parent. Genetic testing of an affected fetus or child can identify the type of Turner syndrome present and may help to estimate the risk of recurrence. People with questions about genetic testing or recurrence risks for Turner syndrome are encouraged to speak with a genetic counselor or other genetics professional.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Noonan syndrome 1 ?"}, {"role": "assistant", "content": "Noonan syndrome is a genetic disorder that causes abnormal development of multiple parts of the body. Features of Noonan syndrome may include a distinctive facial appearance, short stature, a broad or webbed neck, congenital heart defects, bleeding problems, skeletal malformations, and developmental delay. Noonan syndrome may be caused by mutations in any one of several genes including the PTPN11, KRAS, RAF1, SOS1, NRAS and BRAF genes. It is sometimes referred to as a specific subtype based on the responsible gene in an affected person. Noonan syndrome is typically inherited in an autosomal dominant manner but many cases are due to a new mutation and are not inherited from an affected parent.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Who is at risk for Am I at Risk for Type 2 Diabetes? Taking Steps to Lower Your Risk of Getting Diabetes? ?"}, {"role": "assistant", "content": "Making big changes in your life is hard, especially if you are faced with more than one change. You can make it easier by taking these steps:\n \n- Make a plan to change behavior. - Decide exactly what you will do and give yourself a time frame. - Plan what you need to get ready. - Track your goals and activity on a food and activity tracker, available at http://www.niddk.nih.gov/health-information/health-communication-programs/ndep/health-care-professionals/game-plan/small-steps/Documents/GP_FoodActTracker.pdf (PDF, 349 KB) - Think about what might prevent you from reaching your goals. - Find family and friends who will support and encourage you. - Decide how you will reward yourselfa shopping trip, movie tickets, an afternoon in the parkwhen you do what you have planned.\n \nYour doctor, a dietitian, or a counselor can help you make a plan.\n \n\n \nBe Physically Active Every Day\n \nRegular physical activity tackles several risk factors at once. Activity helps you lose weight; keeps your blood glucose, blood pressure, and cholesterol under control; and helps your body use insulin. People in the DPP who were physically active for 30 minutes a day, 5 days a week, reduced their risk of type 2 diabetes. Many chose brisk walking as their physical activity.\n \nIf you are not fairly active, you should start slowly. First, talk with your doctor about what kinds of physical activity are safe for you. Make a plan to increase your activity level toward the goal of being active at least 30 minutes a day most days of the week. You can increase your level of physical activity in two main ways:\n \n1. Start an exercise program. 2. Increase your daily activity.\n \nStart an exercise program. Pick exercises that suit you. Find a friend to walk with you or join an exercise class that will help you keep going.\n \n- Do aerobic activities, which use your large muscles to make your heart beat faster. The large muscles are those of the upper and lower arms; upper and lower legs; and those that control head, shoulder, and hip movements. - Do activities to strengthen muscles and bone, such as lifting weights or sit-ups, two to three times a week. Find helpsuch as a video or a classto learn how to do these exercises properly.\n \nIncrease your daily activity. Choose activities you enjoy. You can work extra activity into your daily routine by doing the following:\n \n- Increase daily activity by decreasing time spent watching TV or at the computer. Set up a reminder on your computer to take an activity break. - Take the stairs rather than an elevator or escalator. - Park at the far end of the parking lot and walk. - Get off the bus a few stops early and walk the rest of the way. - Walk or bicycle whenever you can.\n \n\n \nTake Your Prescribed Medicines\n \nSome people need medicine to help control their blood pressure or cholesterol levels. If you do, take your medicines as directed. Ask your doctor if you should take metformin to prevent type 2 diabetes. Metformin is a medicine that makes insulin work better and can reduce the risk of type 2 diabetes.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for SUNCT Headache ?"}, {"role": "assistant", "content": "These headaches are generally non-responsive to usual treatment for other short-lasting headaches. Corticosteroids and the anti-epileptic drugs gabapentin, lamotrigine, and carbamazepine may help relieve some symptoms in some patients. Studies have shown that injections of glycerol to block nerve signaling along the trigeminal nerve may provide temporary relief in some severe cases, but the headaches recurred in about 40 percent of individuals studied.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Celiac artery compression syndrome ?"}, {"role": "assistant", "content": "Celiac artery compression syndrome is a rare disorder characterized by chronic, recurrent abdominal pain related to compression of the celiac artery (which supplies blood to the upper abdominal organs) by the median arcuate ligament (a muscular fibrous band of the diaphragm). It usually presents with symptoms of abdominal pain, weight loss, and an abdominal bruit (abnormal sound of a blood vessel when blocked or narrowed). The cause is not fully understood; however, it is suspected that there could be a combination of vascular (blood supply) and neurogenic (neurological) components involved. Diagnosis is usually confirmed with imaging such as CT angiography, MRI, ultrasound, and arteriography.Surgery is currently the only treatment option and involves releasing the ligament.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Hemophagocytic lymphohistiocytosis, familial, 3 ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Hemophagocytic lymphohistiocytosis, familial, 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Hemophagocytic lymphohistiocytosis, familial, 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Reduced natural killer cell activity 13/13 Anemia 12/14 Granulocytopenia 11/14 Autosomal recessive inheritance - Fever - Hemophagocytosis - Hepatosplenomegaly - Hypertriglyceridemia - Hypofibrinogenemia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Tay-Sachs Disease ?"}, {"role": "assistant", "content": "Presently there is no specific treatment for Tay-Sachs disease. Anticonvulsant medicine may initially control seizures. Other supportive treatment includes proper nutrition and hydration and techniques to keep the airway open. Children may eventually need a feeding tube.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for X-linked adrenal hypoplasia congenita ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of X-linked adrenal hypoplasia congenita: - Gene Review: Gene Review: X-Linked Adrenal Hypoplasia Congenita - Genetic Testing Registry: Congenital adrenal hypoplasia, X-linked - MedlinePlus Encyclopedia: Adrenal Glands - MedlinePlus Encyclopedia: Hypogonadotropic Hypogonadism These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Klippel Feil syndrome ?"}, {"role": "assistant", "content": "What causes Klippel Feil syndrome (KFS)? The specific underlying causes and mechanisms of Klippel Feil syndrome (KFS)are not well understood. In general medical researchers believe KFS happens when the tissue of the embroyo that normally develops into separate vertebrae does not divide correctly. More specifically, when KFS occurs with other syndromes such as fetal alcohol syndrome, Goldenhar syndrome, Wildervanck syndrome or hemifacial microsomia, medical researchers believe KFS has the same cause as the associated syndrome. Isolated KFS (meaning not associated with another syndrome) can be sporadic or inherited. Although KFS may in some cases be caused by a combination of genetic and environmental factors, mutations in at least three genes have been linked to KFS: GDF6, GDF3 and MEOX1 gene.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) craniofacial-deafness-hand syndrome ?"}, {"role": "assistant", "content": "Craniofacial-deafness-hand syndrome is characterized by distinctive facial features, profound hearing loss, and hand abnormalities. The distinctive facial features of people with craniofacial-deafness-hand syndrome result from a variety of developmental abnormalities involving the skull (cranium) and face. Affected individuals often have underdeveloped or absent nasal bones resulting in a small nose, thin nostrils, and a flattened mid-face with a flat nasal bridge. Individuals with this condition typically also have widely spaced eyes (ocular hypertelorism), narrowed openings of the eyes (narrowed palpebral fissures), a small upper jaw (hypoplastic maxilla), and a small mouth with pursed lips. People with this condition also have profound hearing loss that is caused by abnormalities in the inner ear (sensorineural deafness). Hearing loss in these individuals is present from birth. In affected individuals, a common abnormality of the muscles in the hand is a malformation in which all of the fingers are angled outward toward the fifth finger (ulnar deviation). People with craniofacial-deafness-hand syndrome may also have permanently bent third, fourth, and fifth fingers (camptodactyly), which can limit finger movement and lead to joint deformities called contractures. Contractures in the wrist can further impair hand movements.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Split hand urinary anomalies spina bifida ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Split hand urinary anomalies spina bifida? The Human Phenotype Ontology provides the following list of signs and symptoms for Split hand urinary anomalies spina bifida. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the upper urinary tract 90% Finger syndactyly 90% Abnormality of the antitragus 50% Abnormality of the palate 50% Aplasia/Hypoplasia of the nipples 50% Aplasia/Hypoplasia of the radius 50% Congenital diaphragmatic hernia 50% Edema 50% Low-set, posteriorly rotated ears 50% Myelomeningocele 50% Patent ductus arteriosus 50% Proximal placement of thumb 50% Sloping forehead 50% Spina bifida occulta 50% Split foot 50% Split hand 50% Thickened skin 50% Toe syndactyly 50% Upslanted palpebral fissure 50% Asymmetric growth 7.5% Hydrocephalus 7.5% Talipes 7.5% Tracheoesophageal fistula 7.5% Webbed neck 7.5% Abnormality of the diaphragm - Autosomal dominant inheritance - Cutaneous finger syndactyly - Hydronephrosis - Thoracolumbar scoliosis - Ureteral atresia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "what research (or clinical trials) is being done for Prostate Cancer ?"}, {"role": "assistant", "content": "Scientists continue to look at new ways to prevent, treat, and diagnose prostate cancer. Research has already led to a number of advances in these areas. Dietary Research Several studies are under way to explore the causes of prostate cancer. Some researchers think that diet may affect a man's chances of developing prostate cancer. For example, some studies show that prostate cancer is more common in populations that consume a high-fat diet, particularly animal fat, and in populations with diets that lack certain nutrients. Research on Testosterone Some research suggests that high levels of testosterone may increase a man's risk of prostate cancer. The difference in prostate cancer risk among racial groups could be related to high testosterone levels, but it also could result from diet or other lifestyle factors. Genetic Research Researchers are studying changes in genes that may increase the risk for developing prostate cancer. Some studies are looking at the genes of men who were diagnosed with prostate cancer at a relatively young age, such as less than 55 years old, and the genes of families who have several members with the disease. Other studies are trying to identify which genes, or arrangements of genes, are most likely to lead to prostate cancer. Much more work is needed, however, before scientists can say exactly how genetic changes relate to prostate cancer. Prevention Research Several studies have explored ways to prevent prostate cancer. In October 2008, initial results of a study on the use of the dietary supplements vitamin E and selenium found that they did not provide any benefit in reducing the number of new cases of the disease. A few studies suggest that a diet that regularly includes tomato-based foods may help protect men from prostate cancer, but there are no studies that conclusively prove this hypothesis. According to results of a study that was re-analyzed in 2013, men who took finasteride, a drug that affects male hormone levels, reduced their chances of getting prostate cancer by nearly 30 percent compared to men who took a placebo. Unlike earlier findings from this study, this new analysis showed no increased risk of late stage disease due to use of finasteride. Stopping Prostate Cancer from Returning Scientists are also looking at ways to stop prostate cancer from returning in men who have already been treated for the disease. These approaches use drugs such as finasteride, flutamide, nilutamide, and LH-RH agonists that manipulate hormone levels. In 2010, the FDA approved a therapeutic cancer vaccine, Provenge, for use in some men with metastatic prostate cancer. Provenge may provide a 4-month improvement in overall survival compared with a placebo vaccine. Other similar vaccine therapies are in development. Research on New Blood Tests Some researchers are working to develop new blood tests to detect the antibodies that the immune system produces to fight prostate cancer. When used along with PSA testing, the antibody tests may provide more accurate results about whether or not a man has prostate cancer. Researching New Approaches to Treatment Through research, doctors are trying to find new, more effective ways to treat prostate cancer. Cryosurgery -- destroying cancer by freezing it -- is under study as an alternative to surgery and radiation therapy. To avoid damaging healthy tissue, the doctor places an instrument known as a cryoprobe in direct contact with the tumor to freeze it. Doctors are studying new ways of using radiation therapy and hormonal therapy, too. Studies have shown that hormonal therapy given after radiation therapy can help certain men whose cancer has spread to nearby tissues. Scientists are also testing the effectiveness of chemotherapy and biological therapy for men whose cancer does not respond, or stops responding, to hormonal therapy. They are also exploring new ways to schedule and combine various treatments. For example, they are studying hormonal therapy to find out if using it to shrink the tumor before a man has surgery or radiation might be a useful approach. For men with early stage prostate cancer, researchers are also comparing treatment with watchful waiting. The results of this work will help doctors know whether to treat early stage prostate cancer immediately or only later on, if symptoms occur or worsen.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Renal Cell Cancer ?"}, {"role": "assistant", "content": "Key Points\n - Renal cell cancer is a disease in which malignant (cancer) cells form in tubules of the kidney. - Smoking and misuse of certain pain medicines can affect the risk of renal cell cancer. - Signs of renal cell cancer include blood in the urine and a lump in the abdomen. - Tests that examine the abdomen and kidneys are used to detect (find) and diagnose renal cell cancer. - Certain factors affect prognosis (chance of recovery) and treatment options.\n \n \n Renal cell cancer is a disease in which malignant (cancer) cells form in tubules of the kidney.\n Renal cell cancer (also called kidney cancer or renal adenocarcinoma) is a disease in which malignant (cancer) cells are found in the lining of tubules (very small tubes) in the kidney. There are 2 kidneys, one on each side of the backbone, above the waist. Tiny tubules in the kidneys filter and clean the blood. They take out waste products and make urine. The urine passes from each kidney through a long tube called a ureter into the bladder. The bladder holds the urine until it passes through the urethra and leaves the body. Cancer that starts in the ureters or the renal pelvis (the part of the kidney that collects urine and drains it to the ureters) is different from renal cell cancer. (See the PDQ summary about Transitional Cell Cancer of the Renal Pelvis and Ureter Treatment for more information).", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Medullary cystic kidney disease inherited ?"}, {"role": "assistant", "content": "How is medullary cystic kidney disease inherited? The 2 types of MCKD are both inherited in an autosomal dominant manner. This means that any individual with the condition has a 50% chance of passing on the disease causing mutation to any of their children.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Subacute Sclerosing Panencephalitis ?"}, {"role": "assistant", "content": "Subacute sclerosing panencephalitis (SSPE) is a progressive neurological disorder of children and young adults that affects the central nervous system (CNS). It is a slow, but persistent, viral infection caused by defective measles virus. SSPE has been reported from all parts of the world, but it is considered a rare disease in developed countries, with fewer than 10 cases per year reported in the United States. The incidence of SSPE declined by at least 90 percent in countries that have practiced widespread immunization with measles vaccine. The incidence of SSPE is still high in developing countries such as India and Eastern Europe. There is a higher incidence among males than females (male/female: 3/1). Most youngsters with SSPE have a history of measles infection at an early age, usually younger than 2 years, followed by a latent period of 6 to 8 years before neurological symptoms begin. Despite the long interval between the measles infection and the onset of SSPE, researchers think that the infection of the brain occurs soon after the primary bout with measles and progresses slowly. Why it persists and progresses still isn't clear. The initial symptoms of SSPE are subtle and include mild mental deterioration (such as memory loss) and changes in behavior (such as irritability) followed by disturbances in motor function, including uncontrollable involuntary jerking movements of the head, trunk or limbs called myoclonic jerks. Seizures may also occur. Some people may become blind. In advanced stages of the disease, individuals may lose the ability to walk, as their muscles stiffen or spasm. There is progressive deterioration to a comatose state, and then to a persistent vegetative state. Death is usually the result of fever, heart failure, or the brain's inability to continue controlling the autonomic nervous system.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for glycogen storage disease type VI ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of glycogen storage disease type VI: - Gene Review: Gene Review: Glycogen Storage Disease Type VI - Genetic Testing Registry: Glycogen storage disease, type VI These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of X-linked adrenal hypoplasia congenita ?"}, {"role": "assistant", "content": "What are the signs and symptoms of X-linked adrenal hypoplasia congenita? X-linked adrenal hypoplasia congenita is a disorder that mainly affects males. One of the main signs of this disorder is adrenal insufficiency, which occurs when the adrenal glands do not produce enough hormones. Adrenal insufficiency typically begins in infancy or childhood and can cause vomiting, difficulty with feeding, dehydration, extremely low blood sugar (hypoglycemia), and shock. If untreated, these complications may be life-threatening. Affected males may also have a shortage of male sex hormones, which leads to underdeveloped reproductive tissues, undescended testicles, delayed puberty, and an inability to father children. Together, these characteristics are known as hypogonadotropic hypogonadism. The onset and severity of these signs and symptoms can vary, even among affected members of the same family. The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked adrenal hypoplasia congenita. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Absence of pubertal development - Adrenal hypoplasia - Cryptorchidism - Dehydration - Delayed puberty - Failure to thrive - Hyperpigmentation of the skin - Hypocortisolemia - Hypogonadotrophic hypogonadism - Hyponatremia - Low gonadotropins (secondary hypogonadism) - Muscular dystrophy - Renal salt wasting - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Heart Failure ?"}, {"role": "assistant", "content": "For severe heart failure, patients may require additional oxygen, a mechanical heart pump, or a heart transplant.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to infantile-onset ascending hereditary spastic paralysis ?"}, {"role": "assistant", "content": "Infantile-onset ascending hereditary spastic paralysis is caused by mutations in the ALS2 gene. This gene provides instructions for making the alsin protein. Alsin is produced in a wide range of tissues, with highest amounts in the brain, particularly in motor neurons. Alsin turns on (activates) multiple proteins called GTPases that convert a molecule called GTP into another molecule called GDP. GTPases play important roles in several cell processes. The GTPases that are activated by alsin are involved in the proper placement of the various proteins and fats that make up the cell membrane, the transport of molecules from the cell membrane to the interior of the cell (endocytosis), and the development of specialized structures called axons and dendrites that project from neurons and are essential for the transmission of nerve impulses. Mutations in the ALS2 gene alter the instructions for making alsin, often resulting in the production of an abnormally short alsin protein that is unstable and rapidly broken down. It is unclear exactly how ALS2 gene mutations cause infantile-onset ascending hereditary spastic paralysis. Research suggests that a lack of alsin and the subsequent loss of GTPase functions, such as endocytosis and the development of axons and dendrites, contribute to the progressive atrophy of motor neurons that is characteristic of this condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Urinary Incontinence in Men ?"}, {"role": "assistant", "content": "Treatment depends on the type of UI.\n \nUrgency Incontinence\n \nAs a first line of therapy for urgency incontinence, a health care professional may recommend the following techniques to treat a mans problem:\n \n- behavioral and lifestyle changes - bladder training - pelvic floor exercises - urgency suppression\n \nIf those treatments are not successful, the following additional measures may help urgency incontinence:\n \n- medications - electrical nerve stimulation - bulking agents - surgery\n \nA health care professional may recommend other treatments for men with urgency incontinence caused by BPH. More information is provided in the NIDDK health topic, Prostate Enlargement: Benign Prostatic Hyperplasia.\n \nBehavioral and lifestyle changes. Men with urgency incontinence may be able to reduce leaks by making behavioral and lifestyle changes:\n \n- Eating, diet, and nutrition. Men with urgency incontinence can change the amount and type of liquid they drink. A man can try limiting bladder irritantsincluding caffeinated drinks such as tea or coffee and carbonated beveragesto decrease leaks. Men also should limit alcoholic drinks, which can increase urine production. A health care professional can help a man determine how much he should drink based on his health, how active he is, and where he lives. To decrease nighttime trips to the restroom, men may want to stop drinking liquids several hours before bed. - Engaging in physical activity. Although a man may be reluctant to engage in physical activity when he has urgency incontinence, regular exercise is important for good overall health and for preventing and treating UI. - Losing weight. Men who are overweight should talk with a health care professional about strategies for losing weight, which can help improve UI. - Preventing constipation. Gastrointestinal (GI) problems, especially constipation, can make urinary tract health worse and can lead to UI. The opposite is also true: Urinary problems, such as UI, can make GI problems worse. More information about how to prevent constipation through diet and physical activity is provided in the NIDDK health topic, Constipation.\n \n\n \nTo Help Prevent Bladder Problems, Stop Smoking People who smoke should stop. Quitting smoking at any age promotes bladder health and overall health. Smoking increases a persons chance of developing stress incontinence, as it increases coughing. Some people say smoking worsens their bladder irritation. Smoking causes most cases of bladder cancer. People who smoke for many years have a higher risk of bladder cancer than nonsmokers or those who smoke for a short time.2 People who smoke should ask for help so they do not have to try quitting alone. Call 1-800-QUITNOW (1-800-784-8669) for more information.\n \nBladder training. Bladder training is changing urination habits to decrease incidents of UI. The health care professional may suggest a man use the restroom at regular timed intervals, called timed voiding, based on the mans bladder diary. A man can gradually lengthen the time between trips to the restroom to help stretch the bladder so it can hold more urine.\n \nPelvic floor muscle exercises. Pelvic floor muscle, or Kegel, exercises involve strengthening pelvic floor muscles. Strong pelvic floor muscles hold in urine more effectively than weak muscles. A man does not need special equipment for Kegel exercises. The exercises involve tightening and relaxing the muscles that control urine flow. Pelvic floor exercises should not be performed during urination. A health care professional can help a man learn proper technique. More information is provided in the NIDDK health topic, Kegel Exercise Tips.\n \nMen also may learn how to perform Kegel exercises properly by using biofeedback. Biofeedback uses special sensors to measure bodily functions, such as muscle contractions that control urination. A video monitor displays the measurements as graphs, and sounds indicate when the man is using the correct muscles. The health care professional uses the information to help the man change abnormal function of the pelvic floor muscles. At home, the man practices to improve muscle function. The man can perform the exercises while lying down, sitting at a desk, or standing up. Success with pelvic floor exercises depends on the cause of UI, its severity, and the mans ability to perform the exercises.\n \nUrgency suppression. By using certain techniques, a man can suppress the urge to urinate, called urgency suppression. Urgency suppression is a way for a man to train his bladder to maintain control so he does not have to panic about finding a restroom. Some men use distraction techniques to take their mind off the urge to urinate. Other men find taking long, relaxing breaths and being still can help. Doing pelvic floor exercises also can help suppress the urge to urinate.\n \nMedications. Health care professionals may prescribe medications that relax the bladder, decrease bladder spasms, or treat prostate enlargement to treat urgency incontinence in men.\n \n- Antimuscarinics. Antimuscarinics can help relax bladder muscles and prevent bladder spasms. These medications include oxybutynin (Oxytrol), tolterodine (Detrol), darifenacin (Enablex), trospium (Sanctura), fesoterodine (Toviaz), and solifenacin (VESIcare). They are available in pill, liquid, and patch form. - Tricyclic antidepressants. Tricyclic antidepressants such as imipramine (Tofranil) can calm nerve signals, decreasing spasms in bladder muscles. - Alpha-blockers. Terazosin (Hytrin), doxazosin (Cardura), tamsulosin (Flomax), alfuzosin (Uroxatral), and silodosin (Rapaflo) are used to treat problems caused by prostate enlargement and bladder outlet obstruction. These medications relax the smooth muscle of the prostate and bladder neck, which lets urine flow normally and prevents abnormal bladder contractions that can lead to urgency incontinence. - 5-alpha reductase inhibitors. Finasteride (Proscar) and dutasteride (Avodart) block the production of the male hormone dihydrotestosterone, which accumulates in the prostate and may cause prostate growth. These medications may help to relieve urgency incontinence problems by shrinking an enlarged prostate. - Beta-3 agonists. Mirabegron (Myrbetriq) is a beta-3 agonist a person takes by mouth to help prevent symptoms of urgency incontinence. Mirabegron suppresses involuntary bladder contractions. - Botox. A health care professional may use onabotulinumtoxinA (Botox), also called botulinum toxin type A, to treat UI in men with neurological conditions such as spinal cord injury or multiple sclerosis. Injecting Botox into the bladder relaxes the bladder, increasing storage capacity and decreasing UI. A health care professional performs the procedure during an office visit. A man receives local anesthesia. The health care professional uses a cystoscope to guide the needle for injecting the Botox. Botox is effective for up to 10 months.3\n \nElectrical nerve stimulation. If behavioral and lifestyle changes and medications do not improve symptoms, a urologist may suggest electrical nerve stimulation as an option to prevent UI, urinary frequencyurination more often than normaland other symptoms. Electrical nerve stimulation involves altering bladder reflexes using pulses of electricity. The two most common types of electrical nerve stimulation are percutaneous tibial nerve stimulation and sacral nerve stimulation.4\n \n- Percutaneous tibial nerve stimulation uses electrical stimulation of the tibial nerve, which is located in the ankle, on a weekly basis. The patient receives local anesthesia for the procedure. In an outpatient center, a urologist inserts a battery-operated stimulator beneath the skin near the tibial nerve. Electrical stimulation of the tibial nerve prevents bladder activity by interfering with the pathway between the bladder and the spinal cord or brain. Although researchers consider percutaneous tibial nerve stimulation safe, they continue to study the exact ways that it prevents symptoms and how long the treatment can last. - Sacral nerve stimulation involves implanting a battery-operated stimulator beneath the skin in the lower back near the sacral nerve. The procedure takes place in an outpatient center using local anesthesia. Based on the patients feedback, the health care professional can adjust the amount of stimulation so it works best for that individual. The electrical pulses enter the body for minutes to hours, two or more times a day, either through wires placed on the lower back or just above the pubic areabetween the navel and the pubic hair. Sacral nerve stimulation may increase blood flow to the bladder, strengthen pelvic muscles that help control the bladder, and trigger the release of natural substances that block pain. The patient can turn the stimulator on or off at any time.\n \nA patient may consider getting an implanted device that delivers regular impulses to the bladder. A urologist places a wire next to the tailbone and attaches it to a permanent stimulator under the skin.\n \nBulking agents. A urologist injects bulking agents, such as collagen and carbon spheres, near the urinary sphincter to treat incontinence. The bulking agent makes the tissues thicker and helps close the bladder opening. Before the procedure, the health care professional may perform a skin test to make sure the man doesnt have an allergic reaction to the bulking agent. A urologist performs the procedure during an office visit. The man receives local anesthesia. The urologist uses a cystoscopea tubelike instrument used to look inside the urethra and bladderto guide the needle for injection of the bulking agent. Over time, the body may slowly eliminate certain bulking agents, so a man may need to have injections again.\n \nSurgery. As a last resort, surgery to treat urgency incontinence in men includes the artificial urinary sphincter (AUS) and the male sling. A health care professional performs the surgery in a hospital with regional or general anesthesia. Most men can leave the hospital the same day, although some may need to stay overnight.\n \n- AUS. An AUS is an implanted device that keeps the urethra closed until the man is ready to urinate. The device has three parts: a cuff that fits around the urethra, a small balloon reservoir placed in the abdomen, and a pump placed in the scrotumthe sac that holds the testicles. The cuff contains a liquid that makes it fit tightly around the urethra to prevent urine from leaking. When it is time to urinate, the man squeezes the pump with his fingers to deflate the cuff. The liquid moves to the balloon reservoir and lets urine flow through the urethra. When the bladder is empty, the cuff automatically refills in the next 2 to 5 minutes to keep the urethra tightly closed. - Male sling. A health care professional performs a sling procedure, also called urethral compression procedure, to add support to the urethra, which can sometimes better control urination. Through an incision in the tissue between the scrotum and the rectum, also called the perineum, the health care professional uses a piece of human tissue or mesh to compress the urethra against the pubic bone. The surgeon secures the ends of the tissue or mesh around the pelvic bones. The lifting and compression of the urethra sometimes provides better control over urination.\n \nStress Incontinence\n \nMen who have stress incontinence can use the same techniques for treating urgency incontinence.\n \nFunctional Incontinence\n \nMen with functional incontinence may wear protective undergarments if they worry about reaching a restroom in time. These products include adult diapers or pads and are available from drugstores, grocery stores, and medical supply stores. Men who have functional incontinence should talk to a health care professional about its cause and how to prevent or treat functional incontinence.\n \nOverflow Incontinence\n \nA health care professional treats overflow incontinence caused by a blockage in the urinary tract with surgery to remove the obstruction. Men with overflow incontinence that is not caused by a blockage may need to use a catheter to empty the bladder. A catheter is a thin, flexible tube that is inserted through the urethra into the bladder to drain urine. A health care professional can teach a man how to use a catheter. A man may need to use a catheter once in a while, a few times a day, or all the time. Catheters that are used continuously drain urine from the bladder into a bag that is attached to the mans thigh with a strap. Men using a continuous catheter should watch for symptoms of an infection.\n \nTransient Incontinence\n \nA health care professional treats transient incontinence by addressing the underlying cause. For example, if a medication is causing increased urine production leading to UI, a health care professional may try lowering the dose or prescribing a different medication. A health care professional may prescribe bacteria-fighting medications called antibiotics to treat UTIs.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to inclusion body myopathy with early-onset Paget disease and frontotemporal dementia ?"}, {"role": "assistant", "content": "Mutations in the VCP gene cause IBMPFD. The VCP gene provides instructions for making an enzyme called valosin-containing protein, which has a wide variety of functions within cells. One of its most critical jobs is to help break down (degrade) proteins that are abnormal or no longer needed. Mutations in the VCP gene alter the structure of valosin-containing protein, disrupting its ability to break down other proteins. As a result, excess and abnormal proteins may build up in muscle, bone, and brain cells. The proteins form clumps that interfere with the normal functions of these cells. It remains unclear how damage to muscle, bone, and brain cells leads to the specific features of IBMPFD.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is the outlook for Apraxia ?"}, {"role": "assistant", "content": "The prognosis for individuals with apraxia varies and depends partly on the underlying cause. Some individuals improve significantly while others may show very little improvement.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "what research (or clinical trials) is being done for Williams Syndrome ?"}, {"role": "assistant", "content": "The National Institutes of Health (NIH), and the National Institute of Neurological Disorders and Stroke (NINDS), have funded many of the research studies exploring the genetic and neurobiological origins of WS. In the early 1990s, researchers located and identified the genetic mutation responsible for the disorder: the deletion of a small section of chromosome 7 that contains approximately 25 genes. NINDS continues to support WS researchers including, for example, groups that are attempting to link specific genes with the corresponding facial, cognitive, personality, and neurological characteristics of WS.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What to do for Perineal Injury in Males ?"}, {"role": "assistant", "content": "To prevent constipation, a diet with 20 to 35 grams of fiber each day helps the body form soft, bulky stool that is easier to pass. High-fiber foods include beans, whole grains and bran cereals, fresh fruits, and vegetables such as asparagus, brussels sprouts, cabbage, and carrots. For people prone to constipation, limiting foods that have little or no fiber, such as ice cream, cheese, meat, and processed foods, is also important. A health care provider can give information about how changes in eating, diet, and nutrition could help with constipation.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is the outlook for Myopathy ?"}, {"role": "assistant", "content": "The prognosis for individuals with a myopathy varies. Some individuals have a normal life span and little or no disability. For others, however, the disorder may be progressive, severely disabling, life-threatening, or fatal.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Who is at risk for Pulmonary Hypertension? ?"}, {"role": "assistant", "content": "The exact number of people who have pulmonary hypertension (PH) isn't known.\n \nGroup 1 pulmonary arterial hypertension (PAH) without a known cause is rare. It affects women more often than men. People who have group 1 PAH tend to be overweight.\n \nPH that occurs with another disease or condition is more common.\n \nPH usually develops between the ages of 20 and 60, but it can occur at any age. People who are at increased risk for PH include:\n \nThose who have a family history of the condition.\n \nThose who have certain diseases or conditions, such as heart and lung diseases, liver disease, HIV infection, or blood clots in the pulmonary arteries. (For more information about the diseases, conditions, and factors that cause PH, go to \"Types of Pulmonary Hypertension.\")\n \nThose who use street drugs (such as cocaine) or certain diet medicines.\n \nThose who live at high altitudes.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by North American Indian childhood cirrhosis ?"}, {"role": "assistant", "content": "North American Indian childhood cirrhosis has been found only in children of Ojibway-Cree descent in the Abitibi region of northwestern Quebec, Canada. At least 30 affected individuals from this population have been reported.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Kidney Failure: Choosing a Treatment That's Right for You ?"}, {"role": "assistant", "content": "The kidneys are two bean-shaped organs, each about the size of a fist. They are located just below the rib cage, one on each side of the spine. Every day, the two kidneys filter about 120 to 150 quarts of blood to produce about 1 to 2 quarts of urine, composed of wastes and extra fluid. The urine flows from the kidneys to the bladder through two thin tubes of muscle called ureters, one on each side of the bladder. The bladder stores urine. The muscles of the bladder wall remain relaxed while the bladder fills with urine. As the bladder fills to capacity, signals sent to the brain tell a person to find a toilet soon. When the bladder empties, urine flows out of the body through a tube called the urethra, located at the bottom of the bladder. In men the urethra is long, while in women it is short.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to adenine phosphoribosyltransferase deficiency ?"}, {"role": "assistant", "content": "Mutations in the APRT gene cause APRT deficiency. This gene provides instructions for making APRT, an enzyme that helps to convert a DNA building block (nucleotide) called adenine to a molecule called adenosine monophosphate (AMP). This conversion occurs when AMP is needed as a source of energy for cells. APRT gene mutations lead to the production of an abnormal APRT enzyme with reduced function or prevent the production of any enzyme. A lack of functional enzyme impairs the conversion of adenine to AMP. As a result, adenine is converted to another molecule called 2,8-dihydroxyadenine (2,8-DHA). 2,8-DHA crystallizes in urine, forming stones in the kidneys and urinary tract. 2,8-DHA crystals are brownish in color, which explains why affected infants frequently have dark urine stains in their diapers. 2,8-DHA is toxic to kidneys, which may explain the possible decline in kidney function and the progression to ESRD.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for renal coloboma syndrome ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of renal coloboma syndrome: - Gene Review: Gene Review: Renal Coloboma Syndrome - Genetic Testing Registry: Renal coloboma syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Stargardt disease ?"}, {"role": "assistant", "content": "Stargardt disease is a genetic eye disorder that causes progressive vision loss. It affects the macula, an area of the retina responsible for sharp, central vision. Vision loss is due to abnormal accumulation of a fatty yellow pigment (lipofuscin) in the cells within the macula. People with Stargardt disease also have problems with night vision, and some have problems with color vision. The signs and symptoms of Stargardt disease typically appear in late childhood to early adulthood and worsen over time. It is most commonly caused by mutations in the ABCA4 gene and inherited in an autosomal recessive manner. Rarely it may be caused by mutations in other genes and inherited in an autosomal dominant manner. There is currently no treatment, but various services and devices can help affected people carry out daily activities and maintain their independence.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to lung cancer ?"}, {"role": "assistant", "content": "Cancers occur when genetic mutations build up in critical genes, specifically those that control cell growth and division or the repair of damaged DNA. These changes allow cells to grow and divide uncontrollably to form a tumor. In nearly all cases of lung cancer, these genetic changes are acquired during a person's lifetime and are present only in certain cells in the lung. These changes, which are called somatic mutations, are not inherited. Somatic mutations in many different genes have been found in lung cancer cells. Mutations in the EGFR and KRAS genes are estimated to be present in up to half of all lung cancer cases. These genes each provide instructions for making a protein that is embedded within the cell membrane. When these proteins are turned on (activated) by binding to other molecules, signaling pathways are triggered within cells that promote cell growth and division (proliferation). Mutations in either the EGFR or KRAS gene lead to the production of a protein that is constantly turned on (constitutively activated). As a result, cells are signaled to constantly proliferate, leading to tumor formation. When these gene changes occur in cells in the lungs, lung cancer develops. Mutations in many other genes have each been found in a small proportion of cases. In addition to genetic changes, researchers have identified many personal and environmental factors that expose individuals to cancer-causing compounds (carcinogens) and increase the rate at which somatic mutations occur, contributing to a person's risk of developing lung cancer. The greatest risk factor is long-term tobacco smoking, which increases a person's risk of developing lung cancer 20-fold. Other risk factors include exposure to air pollution, radon, asbestos, or secondhand smoke; long-term use of hormone replacement therapy for menopause; and a history of lung disease such as tuberculosis, emphysema, or chronic bronchitis. A history of lung cancer in closely related family members is also an important risk factor; however, because relatives with lung cancer were likely smokers, it is unclear whether the increased risk of lung cancer is the result of genetic factors or exposure to secondhand smoke.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Pulmonary Embolism ?"}, {"role": "assistant", "content": "Pulmonary embolism (PE) is diagnosed based on your medical history, a physical exam, and test results.\n \nDoctors who treat patients in the emergency room often are the ones to diagnose PE with the help of a radiologist. A radiologist is a doctor who deals with x rays and other similar tests.\n \nMedical History and Physical Exam\n \nTo diagnose PE, the doctor will ask about your medical history. He or she will want to: \n \nFind out your deep vein thrombosis (DVT) and PE risk factors\n \nSee how likely it is that you could have PE\n \nRule out other possible causes for your symptoms\n \nYour doctor also will do a physical exam. During the exam, he or she will check your legs for signs of DVT. He or she also will check your blood pressure and your heart and lungs.\n \nDiagnostic Tests\n \nMany tests can help diagnose PE. Which tests you have will depend on how you feel when you get to the hospital, your risk factors, available testing options, and other conditions you could possibly have. You may have one or more of the following tests.\n \nUltrasound\n \nDoctors can use ultrasound to look for blood clots in your legs. Ultrasound uses sound waves to check blood flow in your veins.\n \nFor this test, gel is put on the skin of your legs. A hand-held device called a transducer is moved back and forth over the affected areas. The transducer gives off ultrasound waves and detects their echoes as they bounce off the vein walls and blood cells.\n \nA computer turns the echoes into a picture on a computer screen, allowing the doctor to see blood flow in your legs. If the doctor finds blood clots in the deep veins of your legs, he or she will recommend treatment.\n \nDVT and PE both are treated with the same medicines.\n \nComputed Tomography Scans\n \nDoctors can use computed tomography (to-MOG-rah-fee) scans, or CT scans, to look for blood clots in the lungs and legs.\n \nFor this test, dye is injected into a vein in your arm. The dye makes the blood vessels in your lungs and legs show up on x-ray images. You'll lie on a table, and an x-ray tube will rotate around you. The tube will take pictures from many angles.\n \nThis test allows doctors to detect most cases of PE. The test only takes a few minutes. Results are available shortly after the scan is done.\n \nLung Ventilation/Perfusion Scan\n \nA lung ventilation/perfusion scan, or VQ scan, uses a radioactive substance to show how well oxygen and blood are flowing to all areas of your lungs. This test can help detect PE.\n \nPulmonary Angiography\n \nPulmonary angiography (an-jee-OG-rah-fee) is another test used to diagnose PE. This test isn't available at all hospitals, and a trained specialist must do the test.\n \nFor this test, a flexible tube called a catheter is threaded through the groin (upper thigh) or arm to the blood vessels in the lungs. Dye is injected into the blood vessels through the catheter.\n \nX-ray pictures are taken to show blood flowing through the blood vessels in the lungs. If a blood clot is found, your doctor may use the catheter to remove it or deliver medicine to dissolve it.\n \nBlood Tests\n \nCertain blood tests may help your doctor find out whether you're likely to have PE.\n \nA D-dimer test measures a substance in the blood that's released when a blood clot breaks down. High levels of the substance may mean a clot is present. If your test is normal and you have few risk factors, PE isn't likely.\n \nOther blood tests check for inherited disorders that cause blood clots. Blood tests also can measure the amount of oxygen and carbon dioxide in your blood. A clot in a blood vessel in your lungs may lower the level of oxygen in your blood.\n \nOther Tests\n \nTo rule out other possible causes of your symptoms, your doctor may use one or more of the following tests.\n \nEchocardiography (echo). This test uses sound waves to create a moving picture of your heart. Doctors use echo to check heart function and detect blood clots inside the heart.\n \nEKG (electrocardiogram). An EKG is a simple, painless test that detects and records the heart's electrical activity.\n \nChest x ray. This test creates pictures of your lungs, heart, large arteries, ribs, and diaphragm (the muscle below your lungs).\n \nChest MRI (magnetic resonance imaging). This test uses radio waves and magnetic fields to create pictures of organs and structures inside the body. MRI often can provide more information than an x ray.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Pellagra like syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Pellagra like syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Pellagra like syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aminoaciduria 90% Dry skin 90% Nystagmus 90% Skin rash 90% Urticaria 90% Abnormality of movement 50% Cataract 50% Cognitive impairment 50% Diplopia 50% Muscular hypotonia 50% Neurological speech impairment 50% Reduced consciousness/confusion 50% Short stature 50% Ataxia - Autosomal recessive inheritance - Confusion - Dysarthria - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) type 1 diabetes ?"}, {"role": "assistant", "content": "Type 1 diabetes is a disorder characterized by abnormally high blood sugar levels. In this form of diabetes, specialized cells in the pancreas called beta cells stop producing insulin. Insulin controls how much glucose (a type of sugar) is passed from the blood into cells for conversion to energy. Lack of insulin results in the inability to use glucose for energy or to control the amount of sugar in the blood. Type 1 diabetes can occur at any age; however, it usually develops by early adulthood, most often starting in adolescence. The first signs and symptoms of the disorder are caused by high blood sugar and may include frequent urination (polyuria), excessive thirst (polydipsia), fatigue, blurred vision, tingling or loss of feeling in the hands and feet, and weight loss. These symptoms may recur during the course of the disorder if blood sugar is not well controlled by insulin replacement therapy. Improper control can also cause blood sugar levels to become too low (hypoglycemia). This may occur when the body's needs change, such as during exercise or if eating is delayed. Hypoglycemia can cause headache, dizziness, hunger, shaking, sweating, weakness, and agitation. Uncontrolled type 1 diabetes can lead to a life-threatening complication called diabetic ketoacidosis. Without insulin, cells cannot take in glucose. A lack of glucose in cells prompts the liver to try to compensate by releasing more glucose into the blood, and blood sugar can become extremely high. The cells, unable to use the glucose in the blood for energy, respond by using fats instead. Breaking down fats to obtain energy produces waste products called ketones, which can build up to toxic levels in people with type 1 diabetes, resulting in diabetic ketoacidosis. Affected individuals may begin breathing rapidly; develop a fruity odor in the breath; and experience nausea, vomiting, facial flushing, stomach pain, and dryness of the mouth (xerostomia). In severe cases, diabetic ketoacidosis can lead to coma and death. Over many years, the chronic high blood sugar associated with diabetes may cause damage to blood vessels and nerves, leading to complications affecting many organs and tissues. The retina, which is the light-sensitive tissue at the back of the eye, can be damaged (diabetic retinopathy), leading to vision loss and eventual blindness. Kidney damage (diabetic nephropathy) may also occur and can lead to kidney failure and end-stage renal disease (ESRD). Pain, tingling, and loss of normal sensation (diabetic neuropathy) often occur, especially in the feet. Impaired circulation and absence of the normal sensations that prompt reaction to injury can result in permanent damage to the feet; in severe cases, the damage can lead to amputation. People with type 1 diabetes are also at increased risk of heart attacks, strokes, and problems with urinary and sexual function.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Adams-Oliver syndrome ?"}, {"role": "assistant", "content": "Adams-Oliver syndrome is a rare condition that is present at birth. The primary features are an abnormality in skin development (called aplasia cutis congenita) and malformations of the limbs. A variety of other features can occur in people with Adams-Oliver syndrome. Most people with Adams-Oliver syndrome have aplasia cutis congenita, a condition characterized by localized areas of missing skin typically occurring on the top of the head (the skull vertex). In some cases, the bone under the skin is also underdeveloped. Individuals with this condition commonly have scarring and an absence of hair growth in the affected area. Abnormalities of the hands and feet are also common in people with Adams-Oliver syndrome. These most often involve the fingers and toes and can include abnormal nails, fingers or toes that are fused together (syndactyly), and abnormally short or missing fingers or toes (brachydactyly or oligodactyly). In some cases, other bones in the hands, feet, or lower limbs are malformed or missing. Some affected infants have a condition called cutis marmorata telangiectatica congenita. This disorder of the blood vessels causes a reddish or purplish net-like pattern on the skin. In addition, people with Adams-Oliver syndrome can develop high blood pressure in the blood vessels between the heart and the lungs (pulmonary hypertension), which can be life-threatening. Other blood vessel problems and heart defects can occur in affected individuals. In some cases, people with Adams-Oliver syndrome have neurological problems, such as developmental delay, learning disabilities, or abnormalities in the structure of the brain.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is the outlook for Primary Lateral Sclerosis ?"}, {"role": "assistant", "content": "PLS is not fatal. There is no cure and the progression of symptoms varies. Some people may retain the ability to walk without assistance, but others eventually require wheelchairs, canes, or other assistive devices.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Froelich syndrome ?"}, {"role": "assistant", "content": "Froelich syndrome is characterized by obesity and hypogonadism due to a hypothalamic-pituitary disorder. The hypothalamus is a part of the brain where certain functions such as sleep cycles and body temperature are regulated. The pituitary is a gland that makes hormones that affect growth and the functions of other glands in the body. Froehlich syndrome is acquired (i.e., not thought to be inherited or genetic). This syndrome appears to affect males more commonly. The term 'Froelich syndrome' is rarely used today.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) ankyloblepharon-ectodermal defects-cleft lip/palate syndrome ?"}, {"role": "assistant", "content": "Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is a form of ectodermal dysplasia, a group of about 150 conditions characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth, and sweat glands. Among the most common features of AEC syndrome are missing patches of skin (erosions). In affected infants, skin erosions most commonly occur on the scalp. They tend to recur throughout childhood and into adulthood, frequently affecting the scalp, neck, hands, and feet. The skin erosions range from mild to severe and can lead to infection, scarring, and hair loss. Other ectodermal abnormalities in AEC syndrome include changes in skin coloring; brittle, sparse, or missing hair; misshapen or absent fingernails and toenails; and malformed or missing teeth. Affected individuals also report increased sensitivity to heat and a reduced ability to sweat. Many infants with AEC syndrome are born with an eyelid condition known as ankyloblepharon filiforme adnatum, in which strands of tissue partially or completely fuse the upper and lower eyelids. Most people with AEC syndrome are also born with an opening in the roof of the mouth (a cleft palate), a split in the lip (a cleft lip), or both. Cleft lip or cleft palate can make it difficult for affected infants to suck, so these infants often have trouble feeding and do not grow and gain weight at the expected rate (failure to thrive). Additional features of AEC syndrome can include limb abnormalities, most commonly fused fingers and toes (syndactyly). Less often, affected individuals have permanently bent fingers and toes (camptodactyly) or a deep split in the hands or feet with missing fingers or toes and fusion of the remaining digits (ectrodactyly). Hearing loss is common, occurring in more than 90 percent of children with AEC syndrome. Some affected individuals have distinctive facial features, such as small jaws that cannot open fully and a narrow space between the upper lip and nose (philtrum). Other signs and symptoms can include the opening of the urethra on the underside of the penis (hypospadias) in affected males, digestive problems, absent tear duct openings in the eyes, and chronic sinus or ear infections. A condition known as Rapp-Hodgkin syndrome has signs and symptoms that overlap considerably with those of AEC syndrome. These two syndromes were classified as separate disorders until it was discovered that they both result from mutations in the same part of the same gene. Most researchers now consider Rapp-Hodgkin syndrome and AEC syndrome to be part of the same disease spectrum.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to 22q13.3 deletion syndrome ?"}, {"role": "assistant", "content": "22q13.3 deletion syndrome is caused by a deletion near the end of the long (q) arm of chromosome 22. The signs and symptoms of 22q13.3 deletion syndrome are probably related to the loss of multiple genes in this region. The size of the deletion varies among affected individuals. A ring chromosome 22 can also cause 22q13.3 deletion syndrome. A ring chromosome is a circular structure that occurs when a chromosome breaks in two places, the tips of the chromosome are lost, and the broken ends fuse together. People with ring chromosome 22 have one copy of this abnormal chromosome in some or all of their cells. Researchers believe that several critical genes near the end of the long (q) arm of chromosome 22 are lost when the ring chromosome 22 forms. If one of the chromosome break points is at position 22q13.3, people with ring chromosome 22 have similar signs and symptoms as those with a simple deletion. Researchers are working to identify all of the genes that contribute to the features of 22q13.3 deletion syndrome. They have determined that the loss of a particular gene on chromosome 22, SHANK3, is likely to be responsible for many of the syndrome's characteristic signs (such as developmental delay, intellectual disability, and impaired speech). Additional genes in the deleted region probably contribute to the varied features of 22q13.3 deletion syndrome.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the stages of Small Cell Lung Cancer ?"}, {"role": "assistant", "content": "Key Points\n - After small cell lung cancer has been diagnosed, tests are done to find out if cancer cells have spread within the chest or to other parts of the body. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. - The following stages are used for small cell lung cancer: - Limited-Stage Small Cell Lung Cancer - Extensive-Stage Small Cell Lung Cancer\n \n \n After small cell lung cancer has been diagnosed, tests are done to find out if cancer cells have spread within the chest or to other parts of the body.\n The process used to find out if cancer has spread within the chest or to other parts of the body is called staging. The information gathered from the staging process determines the stage of the disease. It is important to know the stage in order to plan treatment. Some of the tests used to diagnose small cell lung cancer are also used to stage the disease. (See the General Information section.) Other tests and procedures that may be used in the staging process include the following: - MRI (magnetic resonance imaging) of the brain: A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body. This procedure is also called nuclear magnetic resonance imaging (NMRI). - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, such as the brain, chest or upper abdomen, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - PET scan (positron emission tomography scan): A procedure to find malignant tumor cells in the body. A small amount of radioactive glucose (sugar) is injected into a vein. The PET scanner rotates around the body and makes a picture of where glucose is being used in the body. Malignant tumor cells show up brighter in the picture because they are more active and take up more glucose than normal cells do. A PET scan and CT scan may be done at the same time. This is called a PET-CT. - Bone scan : A procedure to check if there are rapidly dividing cells, such as cancer cells, in the bone. A very small amount of radioactive material is injected into a vein and travels through the bloodstream. The radioactive material collects in the bones and is detected by a scanner.\n \n \n There are three ways that cancer spreads in the body.\n Cancer can spread through tissue, the lymph system, and the blood: - Tissue. The cancer spreads from where it began by growing into nearby areas. - Lymph system. The cancer spreads from where it began by getting into the lymph system. The cancer travels through the lymph vessels to other parts of the body. - Blood. The cancer spreads from where it began by getting into the blood. The cancer travels through the blood vessels to other parts of the body.\n \n \n Cancer may spread from where it began to other parts of the body.\n When cancer spreads to another part of the body, it is called metastasis. Cancer cells break away from where they began (the primary tumor) and travel through the lymph system or blood. - Lymph system. The cancer gets into the lymph system, travels through the lymph vessels, and forms a tumor (metastatic tumor) in another part of the body. - Blood. The cancer gets into the blood, travels through the blood vessels, and forms a tumor (metastatic tumor) in another part of the body. The metastatic tumor is the same type of cancer as the primary tumor. For example, if small cell lung cancer spreads to the brain, the cancer cells in the brain are actually lung cancer cells. The disease is metastatic small cell lung cancer, not brain cancer.\n \n \n The following stages are used for small cell lung cancer:\n Limited-Stage Small Cell Lung Cancer In limited-stage, cancer is in the lung where it started and may have spread to the area between the lungs or to the lymph nodes above the collarbone. Extensive-Stage Small Cell Lung Cancer In extensive-stage, cancer has spread beyond the lung or the area between the lungs or the lymph nodes above the collarbone to other places in the body.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by hereditary multiple osteochondromas ?"}, {"role": "assistant", "content": "The incidence of hereditary multiple osteochondromas is estimated to be 1 in 50,000 individuals. This condition occurs more frequently in some isolated populations: the incidence is approximately 1 in 1,000 in the Chamorro population of Guam and 1 in 77 in the Ojibway Indian population of Manitoba, Canada.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Sjgren syndrome ?"}, {"role": "assistant", "content": "Sjgren syndrome is a disorder whose main features are dry eyes and a dry mouth. The condition typically develops gradually beginning in middle adulthood, but can occur at any age. Sjgren syndrome is classified as an autoimmune disorder, one of a large group of conditions that occur when the immune system attacks the body's own tissues and organs. In Sjgren syndrome, the immune system primarily attacks the glands that produce tears (the lacrimal glands) and saliva (the salivary glands), impairing the glands' ability to secrete these fluids. Dry eyes may lead to itching, burning, a feeling of sand in the eyes, blurry vision, or intolerance of bright or fluorescent lighting. A dry mouth can feel chalky or full of cotton, and affected individuals may have difficulty speaking, tasting food, or swallowing. Because saliva helps protect the teeth and the tissues of the oral cavity, people with Sjgren syndrome are at increased risk of tooth decay and infections in the mouth. In most people with Sjgren syndrome, dry eyes and dry mouth are the primary features of the disorder, and general health and life expectancy are largely unaffected. However, in some cases the immune system also attacks and damages other organs and tissues. This complication is known as extraglandular involvement. Affected individuals may develop inflammation in connective tissues, which provide strength and flexibility to structures throughout the body. Disorders involving connective tissue inflammation are sometimes called rheumatic conditions. In Sjgren syndrome, extraglandular involvement may result in painful inflammation of the joints and muscles; dry, itchy skin and skin rashes; chronic cough; a hoarse voice; kidney and liver problems; numbness or tingling in the hands and feet; and, in women, vaginal dryness. Prolonged and extreme tiredness (fatigue) severe enough to affect activities of daily living may also occur in this disorder. A small number of people with Sjgren syndrome develop lymphoma, a blood-related cancer that causes tumor formation in the lymph nodes. When Sjgren syndrome first occurs on its own, it is called primary Sjgren syndrome. Some individuals who are first diagnosed with another rheumatic disorder, such as rheumatoid arthritis or systemic lupus erythematosus, later develop the dry eyes and dry mouth characteristic of Sjgren syndrome. In such cases, the individual is said to have secondary Sjgren syndrome. Other autoimmune disorders can also develop after the onset of primary Sjgren syndrome. In all, about half of all individuals with Sjgren syndrome also have another autoimmune disorder.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of 19p13.12 microdeletion syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of 19p13.12 microdeletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for 19p13.12 microdeletion syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Neurological speech impairment 90% Anteverted nares 50% Arrhythmia 50% Atria septal defect 50% Attention deficit hyperactivity disorder 50% Brachydactyly syndrome 50% Broad forehead 50% Clinodactyly of the 5th finger 50% Epicanthus 50% Intrauterine growth retardation 50% Long philtrum 50% Low-set, posteriorly rotated ears 50% Microcephaly 50% Muscular hypotonia 50% Narrow nasal bridge 50% Reduced number of teeth 50% Scoliosis 50% Seizures 50% Sensorineural hearing impairment 50% Short neck 50% Synophrys 50% Thin vermilion border 50% Ventriculomegaly 50% Abnormality of lipid metabolism 7.5% Abnormality of the aortic valve 7.5% Abnormality of the mitral valve 7.5% Aplasia/Hypoplasia of the cerebellum 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Cleft palate 7.5% Conductive hearing impairment 7.5% Craniosynostosis 7.5% Cryptorchidism 7.5% Deep palmar crease 7.5% Deep plantar creases 7.5% Displacement of the external urethral meatus 7.5% Finger syndactyly 7.5% Hepatic steatosis 7.5% Hypertelorism 7.5% Hypothyroidism 7.5% Kyphosis 7.5% Myopia 7.5% Nystagmus 7.5% Obesity 7.5% Precocious puberty 7.5% Proptosis 7.5% Sandal gap 7.5% Self-injurious behavior 7.5% Strabismus 7.5% Tibial deviation of toes 7.5% Ventricular septal defect 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Breast Cancer ?"}, {"role": "assistant", "content": "Key Points\n - Breast cancer is a disease in which malignant (cancer) cells form in the tissues of the breast. - Breast cancer is the second most common type of cancer in American women.\n \n \n Breast cancer is a disease in which malignant (cancer) cells form in the tissues of the breast.\n The breast is made up of lobes and ducts. Each breast has 15 to 20 sections called lobes, which have many smaller sections called lobules. Lobules end in dozens of tiny bulbs that can make milk. The lobes, lobules, and bulbs are linked by thin tubes called ducts. Each breast also has blood vessels and lymph vessels. The lymph vessels carry an almost colorless fluid called lymph. Lymph vessels lead to organs called lymph nodes. Lymph nodes are small bean-shaped structures that are found throughout the body. They filter lymph and store white blood cells that help fight infection and disease. Clusters of lymph nodes are found near the breast in the axilla (under the arm), above the collarbone, and in the chest. See the following PDQ summaries for more information about breast cancer: - Breast Cancer Screening - Breast Cancer Treatment - Breast Cancer Treatment and Pregnancy - Male Breast Cancer Treatment - Genetics of Breast and Ovarian Cancer\n \n \n Breast cancer is the second most common type of cancer in American women.\n Women in the United States get breast cancer more than any other type of cancer except skin cancer. Breast cancer is second to lung cancer as a cause of cancer death in American women. However, deaths from breast cancer have decreased a little bit every year between 2003 and 2012. Breast cancer also occurs in men, but the number of new cases is small.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by autosomal dominant nocturnal frontal lobe epilepsy ?"}, {"role": "assistant", "content": "ADNFLE appears to be an uncommon form of epilepsy; its prevalence is unknown. This condition has been reported in more than 100 families worldwide.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by oculofaciocardiodental syndrome ?"}, {"role": "assistant", "content": "OFCD syndrome is very rare; the incidence is estimated to be less than 1 in 1 million people.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for rippling muscle disease ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of rippling muscle disease: - Gene Review: Gene Review: Caveolinopathies - Genetic Testing Registry: Rippling muscle disease These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Cryptomicrotia brachydactyly syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Cryptomicrotia brachydactyly syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Cryptomicrotia brachydactyly syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal dermatoglyphics 90% Short distal phalanx of finger 90% Bifid scrotum 50% Freckling 50% Hypoplastic toenails 50% Telecanthus 50% Autosomal dominant inheritance - Brachytelomesophalangy - Chordee - Microtia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Hallermann-Streiff syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Hallermann-Streiff syndrome? The signs and symptoms of Hallermann-Streiff syndrome vary in range and severity among affected individuals. The main features of the condition include abnormalities of the skull and facial bones with distinctive facial characteristics (craniofacial abnormalities); ocular (eye) abnormalities; dental abnormalities; and/or short stature. Craniofacial features may include a short, broad head (brachycephaly) with an unusually prominent forehead and/or sides of the skull (frontal bossing); a small, underdeveloped lower jaw (micrognathia); a narrow, highly arched roof of the mouth (palate); and a thin, pinched, tapering nose (beaked nose). Ocular abnormalities may include clouding of the lenses of the eyes at birth (congenital cataracts); unusually small eyes (microphthalmia); and/or other abnormalities. Dental defects may include the presence of teeth at birth (natal teeth) and/or absence, malformation, or improper alignment of teeth. Hypotrichosis (sparse hair) is present in about 80 percent of affected individuals. Other features may include skin atrophy of the face, and/or hypoplasia (underdevelopment) of the clavicles and ribs. Intellectual disability is present in some cases (approximately 15 percent). In many cases, additional abnormalities are present. The Human Phenotype Ontology provides the following list of signs and symptoms for Hallermann-Streiff syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the clavicle 90% Abnormality of the ribs 90% Alopecia 90% Aplasia/Hypoplasia affecting the eye 90% Aplasia/Hypoplasia of the skin 90% Cataract 90% Convex nasal ridge 90% Frontal bossing 90% Reduced bone mineral density 90% Short stature 90% Abnormality of hair texture 50% Abnormality of the fontanelles or cranial sutures 50% Abnormality of the nares 50% Abnormality of the palate 50% Advanced eruption of teeth 50% Glossoptosis 50% Hypoplasia of the zygomatic bone 50% Increased number of teeth 50% Narrow mouth 50% Recurrent fractures 50% Telecanthus 50% Visual impairment 50% Intellectual disability 15% Abdominal situs inversus 7.5% Aplasia/Hypoplasia of the cerebellum 7.5% Choanal atresia 7.5% Clinodactyly of the 5th finger 7.5% Cognitive impairment 7.5% Congestive heart failure 7.5% Cryptorchidism 7.5% Glaucoma 7.5% Hypothyroidism 7.5% Inflammatory abnormality of the eye 7.5% Microcephaly 7.5% Myopia 7.5% Nystagmus 7.5% Respiratory insufficiency 7.5% Short foot 7.5% Short palm 7.5% Strabismus 7.5% Tracheomalacia 7.5% Abnormality of the hand - Abnormality of the nasopharynx - Blue sclerae - Brachycephaly - Choreoathetosis - Chorioretinal coloboma - Decreased number of sternal ossification centers - Dental malocclusion - Dermal atrophy - Dolichocephaly - Dry skin - Fine hair - Generalized tonic-clonic seizures - High palate - Hyperactivity - Hyperlordosis - Hypotrichosis of the scalp - Iris coloboma - Joint hypermobility - Low-set ears - Malar flattening - Metaphyseal widening - Microphthalmia - Narrow nose - Narrow palate - Natal tooth - Obstructive sleep apnea - Optic nerve coloboma - Parietal bossing - Pectus excavatum - Platybasia - Proportionate short stature - Pulmonary hypertension - Recurrent pneumonia - Recurrent respiratory infections - Scoliosis - Selective tooth agenesis - Slender long bone - Small for gestational age - Sparse eyebrow - Sparse eyelashes - Sparse hair - Spina bifida - Sporadic - Telangiectasia - Thin calvarium - Thin ribs - Thin vermilion border - Underdeveloped nasal alae - Wormian bones - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) X-linked dominant scapuloperoneal myopathy ?"}, {"role": "assistant", "content": "X-linked scapuloperoneal myopathy is an inherited muscular dystrophy characterized by weakness and wasting of the muscles in the lower legs and the area of the shoulder blades. In some individuals, facial muscles may also be affected. While the progression varies from case to case, it tends to be relatively slow. Some cases of scapuloperoneal myopathy are caused by mutations in the FHL1 gene. These cases are inherited in an X-linked dominant manner. Treatment is symptomatic and supportive.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Diabetes ?"}, {"role": "assistant", "content": "Type 1 diabetes is an autoimmune disease. In an autoimmune reaction, antibodies, or immune cells, attach to the body's own healthy tissues by mistake, signaling the body to attack them. At present, scientists do not know exactly what causes the body's immune system to attack the insulin-producing cells in the pancreas in people with type 1 diabetes. However, many believe that both genetic factors and environmental factors are involved. Studies now are underway to identify these factors and prevent type 1 diabetes in people at risk. Type 2 diabetesthe most common form of diabetesis caused by a combination of factors, including insulin resistance, a condition in which the bodys muscle, fat, and liver cells do not use insulin effectively. Type 2 diabetes develops when the body can no longer produce enough insulin to compensate for the impaired ability to use insulin. Get more details about who should be tested for diabetes.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Clouston syndrome ?"}, {"role": "assistant", "content": "Clouston syndrome is a form of ectodermal dysplasia, a group of about 150 conditions characterized by abnormal development of some or all of the ectodermal structures, which include the skin, hair, nails, teeth, and sweat glands. Specifically, Clouston syndrome is characterized by abnormalities of the hair, nails, and skin, with the teeth and sweat glands being unaffected. In infants with Clouston syndrome, scalp hair is sparse, patchy, and lighter in color than the hair of other family members; it is also fragile and easily broken. By puberty, the hair problems may worsen until all the hair on the scalp is lost (total alopecia). The eyelashes, eyebrows, underarm (axillary) hair, and pubic hair are also sparse or absent. Abnormal growth of fingernails and toenails (nail dystrophy) is also characteristic of Clouston syndrome. The nails may appear white in the first years of life. They grow slowly and gradually become thick and misshapen. In some people with Clouston syndrome, nail dystrophy is the most noticeable feature of the disorder. Many people with Clouston syndrome have thick skin on the palms of the hands and soles of the feet (palmoplantar hyperkeratosis); areas of the skin, especially over the joints, that are darker in color than the surrounding skin (hyperpigmentation); and widened and rounded tips of the fingers (clubbing).", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is distal arthrogryposis type 1 inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an autosomal dominant pattern, which means one copy of an altered gene in each cell is sufficient to cause the disorder. In many cases, a person with distal arthrogryposis type 1 has a parent and other close family members with the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Heart Failure ?"}, {"role": "assistant", "content": "Common Symptoms The most common symptoms of heart failure include shortness of breath or difficulty breathing, feeling tired, and swelling. Swelling usually occurs in the ankles, feet, legs, and sometimes in the abdomen. Swelling is caused by fluid buildup in the body. The fluid buildup can lead to weight gain as well as a cough. The cough can be worse at night and when lying down. When symptoms first begin, you might feel tired or short of breath after routine physical activities, such as climbing stairs. As heart failure progresses, the symptoms get worse. You may feel tired or short of breath after performing simple activities, like getting dressed.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for ADCY5-related dyskinesia ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of ADCY5-related dyskinesia: - Gene Review: Gene Review: ADCY5-Related Dyskinesia - Genetic Testing Registry: Dyskinesia, familial, with facial myokymia - National Ataxia Foundation: Movement Disorder Clinics These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Cholestasis, progressive familial intrahepatic 4 ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Cholestasis, progressive familial intrahepatic 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Cholestasis, progressive familial intrahepatic 4. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Elevated hepatic transaminases 90% Hepatomegaly 90% Abnormality of coagulation 50% Gastrointestinal hemorrhage 50% Splenomegaly 50% Cirrhosis 7.5% Nyctalopia 7.5% Peripheral neuropathy 7.5% Pruritus 7.5% Reduced bone mineral density 7.5% Abnormality of the coagulation cascade - Acholic stools - Autosomal recessive inheritance - Diarrhea - Failure to thrive - Giant cell hepatitis - Hepatic failure - Hyperbilirubinemia - Hypocholesterolemia - Intrahepatic cholestasis - Jaundice - Neonatal onset - Steatorrhea - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Erythromelalgia ?"}, {"role": "assistant", "content": "How is erythromelalgia diagnosed? Erythromelalgia can be diagnosed through a clinical exam and medical history. Additional tests may include a skin biopsy and thermography to evaluate skin temperature. Blood tests or other studies may be done to rule out other conditions that can cause similar symptoms. There is not a specific type of doctor that always diagnoses and treats erythromelalgia. A variety of specialists (alone or in combination) may be involved in the diagnosis and treatment of this condition. These may include vascular specialists, hematologists, dermatologists, neurologists, rheumatologists, and other types of physicians. The type of specialist that is appropriate may depend on the underlying cause when secondary erythromelalgia is present. Since erythromelalgia is a rare disease, many doctors are not familiar with the condition. The Erythromelalgia Association offers resources and support for individuals looking for more information about the diagnosis of the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is the outlook for Neuroaxonal dystrophy ?"}, {"role": "assistant", "content": "INAD is a progressive disease. Once symptoms begin, they will worsen over time. Generally, a babys development starts to slow down between the ages of 6 months to 3 years. The first symptoms may be slowing of motor and mental development, followed by loss or regression of previously acquired skills. Rapid, wobbly eye movements and squints may be the first symptoms, followed by floppiness in the body and legs (more than in the arms). For the first few years, a baby with INAD will be alert and responsive, despite being increasingly physically impaired. Eventually, because of deterioration in vision, speech, and mental skills, the child will lose touch with its surroundings. Death usually occurs between the ages of 5 to 10 years.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by mucopolysaccharidosis type IV ?"}, {"role": "assistant", "content": "The exact prevalence of MPS IV is unknown, although it is estimated to occur in 1 in 200,000 to 300,000 individuals.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by Loeys-Dietz syndrome ?"}, {"role": "assistant", "content": "The prevalence of Loeys-Dietz syndrome is unknown. Loeys-Dietz syndrome types I and II appear to be the most common forms.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Treacher Collins syndrome inherited ?"}, {"role": "assistant", "content": "When Treacher Collins syndrome results from mutations in the TCOF1 or POLR1D gene, it is considered an autosomal dominant condition, which means one copy of the altered gene in each cell is sufficient to cause the disorder. About 60 percent of these cases result from new mutations in the gene and occur in people with no history of the disorder in their family. In the remaining autosomal dominant cases, a person with Treacher Collins syndrome inherits the altered gene from an affected parent. When Treacher Collins syndrome is caused by mutations in the POLR1C gene, the condition has an autosomal recessive pattern of inheritance. Autosomal recessive inheritance means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Proteinuria ?"}, {"role": "assistant", "content": "Tests that measure the amount of creatinine in the blood will show whether a persons kidneys are removing wastes efficiently. Having too much creatinine in the blood is a sign that a person has kidney damage. The doctor can use the creatinine measurement to estimate how efficiently the kidneys are filtering the blood. This calculation is called the estimated glomerular filtration rate, or eGFR. CKD is present when the eGFR is less than 60 milliliters per minute (mL/min).", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of DCMA syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of DCMA syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for DCMA syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) 3-Methylglutaric aciduria - Autosomal recessive inheritance - Congestive heart failure - Cryptorchidism - Decreased testicular size - Dilated cardiomyopathy - Glutaric aciduria - Hypospadias - Intellectual disability - Intrauterine growth retardation - Microvesicular hepatic steatosis - Muscle weakness - Noncompaction cardiomyopathy - Nonprogressive cerebellar ataxia - Normochromic microcytic anemia - Optic atrophy - Prolonged QT interval - Sudden cardiac death - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Renal tubulopathy, diabetes mellitus, and cerebellar ataxia due to duplication of mitochondrial DNA ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Renal tubulopathy, diabetes mellitus, and cerebellar ataxia due to duplication of mitochondrial DNA? The Human Phenotype Ontology provides the following list of signs and symptoms for Renal tubulopathy, diabetes mellitus, and cerebellar ataxia due to duplication of mitochondrial DNA. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the renal tubule 90% Constipation 90% Irregular hyperpigmentation 90% Short stature 90% Cerebral cortical atrophy 50% Hearing impairment 50% Incoordination 50% Muscular hypotonia 50% Ptosis 50% Reduced bone mineral density 50% Type I diabetes mellitus 50% Abnormal electroretinogram 7.5% Visual impairment 7.5% Ataxia - Blindness - Blotching pigmentation of the skin - Dehydration - Developmental regression - Diarrhea - Failure to thrive - Hepatomegaly - Mitochondrial inheritance - Mottled pigmentation of photoexposed areas - Myoclonus - Ophthalmoparesis - Osteoporosis - Pigmentary retinal deposits - Polyuria - Proximal tubulopathy - Rickets - Undetectable electroretinogram - Vomiting - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by harlequin ichthyosis ?"}, {"role": "assistant", "content": "Harlequin ichthyosis is very rare; its exact incidence is unknown.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Endometrial Cancer ?"}, {"role": "assistant", "content": "Signs and symptoms of endometrial cancer include unusual vaginal bleeding or pain in the pelvis. These and other signs and symptoms may be caused by endometrial cancer or by other conditions. Check with your doctor if you have any of the following: - Vaginal bleeding or discharge not related to menstruation (periods). - Vaginal bleeding after menopause. - Difficult or painful urination. - Pain during sexual intercourse. - Pain in the pelvic area.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) X-linked visceral heterotaxy 1 ?"}, {"role": "assistant", "content": "X-linked visceral heterotaxy type 1 is a very rare form of heterotaxy that has only been reported in a few families. Heterotaxy is the right/left transposition of thoracic and/or abdominal organs. This condition is caused by mutations in the ZIC3 gene, is inherited in an X-linked recessive fashion, and is usually seen in males. Physical features include heart abnormalities such as dextrocardia, transposition of great vessels, ventricular septal defect, patent ductus arteriosus, pulmonic stenosis; situs inversus, and missing (asplenia) and/or extra spleens (polysplenia). Affected individuals can also experience abnormalities in the development of the midline of the body, which can cause holoprosencephaly , myelomeningocele, urological anomalies, widely spaced eyes (hypertelorism), cleft palate, and abnormalities of the sacral spine and anus. Heterotaxia with recurrent respiratory infections are called primary ciliary dyskinesia.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Glaucoma sleep apnea ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Glaucoma sleep apnea? The Human Phenotype Ontology provides the following list of signs and symptoms for Glaucoma sleep apnea. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Glaucoma 90% Respiratory insufficiency 90% Sleep apnea - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Prothrombin thrombophilia inherited ?"}, {"role": "assistant", "content": "How is prothrombin thrombophilia inherited? Prothrombin thrombophilia is inherited in an autosomal dominant manner. For this condition, this means that having one mutated copy of the disease-causing gene (F2) in each cell may be sufficient to cause signs or symptoms of the condition. The mutation in the F2 gene that causes prothrombin thrombophilia is called 20210G>A (also called the 20210G>A allele). An individual can be heterozygous (having the mutation in only one copy of the F2 gene) or homozygous (having a mutation in both copies of the F2 gene). Heterozygosity results in an increased risk for thrombosis; homozygosity results in more severe thrombophilia and/or increased risk for thrombosis. All individuals reported to date with prothrombin thrombophilia who are heterozygous for the 20210G>A allele have had an affected parent. Because of the relatively high prevalence of this allele in the general population, occasionally one parent is homozygous or both parents are heterozygous for this allele. When an individual who is heterozygous for the 20210G>A allele has children, each child has a 50% (1 in 2) risk to inherit that allele and also be heterozygous. An individual who is homozygous will always pass one of the 20210G>A alleles to each of his/her children. If two heterozygotes have children together, each child has a 25% (1 in 4) risk to be homozygous (having 2 mutated copies), a 50% risk to be heterozygous like each parent, and a 25% risk to inherit 2 normal copies of the F2 gene.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the complications of Polycystic Kidney Disease ?"}, {"role": "assistant", "content": "Babies with the most severe cases of autosomal recessive PKD often die hours or days after birth because they cannot breathe well enough to sustain life. Their lungs do not develop as they should during the prenatal period. Pressure from enlarged kidneys also contributes to breathing problems.\n \nChildren born with autosomal recessive PKD often develop kidney failure before reaching adulthood.\n \nLiver scarring occurs in all people with autosomal recessive PKD and is usually present at birth. However, liver problems tend to become more of a concern as people with autosomal recessive PKD grow older. Liver scarring can lead to progressive liver dysfunction and other problems.\n \nAdditional complications of autosomal recessive PKD include high blood pressure and UTIs.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Ulcerative Colitis ?"}, {"role": "assistant", "content": "Ulcerative colitis (UC) is a disease that causes inflammation and sores, called ulcers, in the lining of the rectum and colon. It is one of a group of diseases called inflammatory bowel disease. UC can happen at any age, but it usually starts between the ages of 15 and 30. It tends to run in families. The most common symptoms are pain in the abdomen and blood or pus in diarrhea. Other symptoms may include - Anemia - Severe tiredness - Weight loss - Loss of appetite - Bleeding from the rectum - Sores on the skin - Joint pain - Growth failure in children About half of people with UC have mild symptoms. Doctors use blood tests, stool tests, colonoscopy or sigmoidoscopy, and imaging tests to diagnose UC. Several types of drugs can help control it. Some people have long periods of remission, when they are free of symptoms. In severe cases, doctors must remove the colon. NIH: National Institute of Diabetes and Digestive and Kidney Diseases", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) corticosteroid-binding globulin deficiency ?"}, {"role": "assistant", "content": "Corticosteroid-binding globulin deficiency is a condition with subtle signs and symptoms, the most frequent being extreme tiredness (fatigue), especially after physical exertion. Many people with this condition have unusually low blood pressure (hypotension). Some affected individuals have a fatty liver or experience chronic pain, particularly in their muscles. These features vary among affected individuals, even those within the same family. Many people with corticosteroid-binding globulin deficiency have only one or two of these features; others have no signs and symptoms of the disorder and are only diagnosed after a relative is found to be affected. Some people with corticosteroid-binding globulin deficiency also have a condition called chronic fatigue syndrome. The features of chronic fatigue syndrome are prolonged fatigue that interferes with daily activities, as well as general symptoms, such as sore throat or headaches.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for heterotaxy syndrome ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of heterotaxy syndrome: - Boston Children's Hospital: Tests for Heterotaxy Syndrome - Gene Review: Gene Review: Primary Ciliary Dyskinesia - Genetic Testing Registry: Atrioventricular septal defect, partial, with heterotaxy syndrome - Genetic Testing Registry: Heterotaxy syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by neurofibromatosis type 2 ?"}, {"role": "assistant", "content": "Neurofibromatosis type 2 has an estimated incidence of 1 in 33,000 people worldwide.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to hereditary sensory neuropathy type IA ?"}, {"role": "assistant", "content": "Mutations in the SPTLC1 gene cause hereditary sensory neuropathy type IA. The SPTLC1 gene provides instructions for making one part (subunit) of an enzyme called serine palmitoyltransferase (SPT). The SPT enzyme is involved in making certain fats called sphingolipids. Sphingolipids are important components of cell membranes and play a role in many cell functions. SPTLC1 gene mutations reduce the amount of functional SPTLC1 subunit that is produced, which results in an SPT enzyme with altered activity. This altered enzyme makes molecules called deoxysphingoid bases, which it does not normally produce. Because of this new function, the SPT enzyme's production of sphingolipid is reduced. Overall, there does not seem to be a decrease in sphingolipid production because the body is able to compensate for the SPT enzyme's reduced production. When accumulated, deoxysphingoid bases are toxic to neurons. The gradual destruction of nerve cells caused by the buildup of these toxic molecules results in loss of sensation and muscle weakness in people with hereditary sensory neuropathy type IA. Although the SPT enzyme does not produce a normal amount of sphingolipids, the body is able to compensate, and there does not seem to be an overall reduction of these fats in the body.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Eosinophilic fasciitis ?"}, {"role": "assistant", "content": "Eosinophilic fasciitis is a very rare condition in which muscle tissue underneath the skin, called fascia, becomes swollen and thick. Rapid swelling can occur in the hands, arms, legs, and feet. People with this condition have a buildup of eosinophils, a type of white blood cell, in the affected fascia and muscles. The exact cause of this condition is unknown. Corticosteroids and other immune-suppressing medications are used to relieve the symptoms. Eosinophilic fasciitis is similar in appearance to scleroderma but is not related.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "what research (or clinical trials) is being done for Neurosyphilis ?"}, {"role": "assistant", "content": "The National Institute of Neurological Disorders and Stroke supports and conducts research on neurodegenerative disorders, such as neurosyphilis, in an effort to find ways to prevent, treat, and ultimately cure these disorders.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of X-linked Charcot-Marie-Tooth disease type 5 ?"}, {"role": "assistant", "content": "What are the signs and symptoms of X-linked Charcot-Marie-Tooth disease type 5? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked Charcot-Marie-Tooth disease type 5. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Decreased nerve conduction velocity 90% Hearing impairment 90% Optic atrophy 90% Pes cavus 90% Impaired pain sensation 50% Gait disturbance 7.5% Hemiplegia/hemiparesis 7.5% Incoordination 7.5% Kyphosis 7.5% Neurological speech impairment 7.5% Reduced consciousness/confusion 7.5% Scoliosis 7.5% Tremor 7.5% Areflexia of lower limbs - Childhood onset - Distal amyotrophy - Distal muscle weakness - Distal sensory impairment - Motor delay - Onion bulb formation - Progressive visual loss - Segmental peripheral demyelination/remyelination - Sensorineural hearing impairment - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is type A insulin resistance syndrome inherited ?"}, {"role": "assistant", "content": "Type A insulin resistance syndrome can have either an autosomal dominant or, less commonly, an autosomal recessive pattern of inheritance. In autosomal dominant inheritance, one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family. In autosomal recessive inheritance, both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for prion disease ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of prion disease: - Creutzfeldt-Jakob Disease Foundation: Suggestions for Patient Care - Gene Review: Gene Review: Genetic Prion Diseases - Genetic Testing Registry: Genetic prion diseases - MedlinePlus Encyclopedia: Creutzfeldt-Jakob disease - MedlinePlus Encyclopedia: Kuru - University of California, San Fransisco Memory and Aging Center: Living With Creutzfeldt-Jakob Disease - University of California, San Fransisco Memory and Aging Center: Treatments for Creutzfeldt-Jakob Disease These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to recombinant 8 syndrome ?"}, {"role": "assistant", "content": "Recombinant 8 syndrome is caused by a rearrangement of chromosome 8 that results in a deletion of a piece of the short (p) arm and a duplication of a piece of the long (q) arm. The deletion and duplication result in the recombinant 8 chromosome. The signs and symptoms of recombinant 8 syndrome are related to the loss and addition of genetic material on these regions of chromosome 8. Researchers are working to determine which genes are involved in the deletion and duplication on chromosome 8.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Spinocerebellar ataxia autosomal recessive 5 ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Spinocerebellar ataxia autosomal recessive 5? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia autosomal recessive 5. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the skin - Ankle clonus - Autosomal recessive inheritance - Babinski sign - Bowel incontinence - Cerebellar atrophy - Clonus - Congenital onset - Decreased body weight - Dilated fourth ventricle - Dystonia - Esotropia - Flexion contracture - Intellectual disability, progressive - Intellectual disability, severe - Microcephaly - Neurological speech impairment - Nonprogressive - Oculomotor apraxia - Optic atrophy - Short stature - Spasticity - Urinary incontinence - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is the outlook for Adult Acute Myeloid Leukemia ?"}, {"role": "assistant", "content": "Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on: - The age of the patient. - The subtype of AML. - Whether the patient received chemotherapy in the past to treat a different cancer. - Whether there is a history of a blood disorder such as myelodysplastic syndrome. - Whether the cancer has spread to the central nervous system. - Whether the cancer has been treated before or recurred (come back). It is important that acute leukemia be treated right away.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Unverricht-Lundborg disease ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of Unverricht-Lundborg disease: - Gene Review: Gene Review: Unverricht-Lundborg Disease - Genetic Testing Registry: Unverricht-Lundborg syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) 2q37 deletion syndrome ?"}, {"role": "assistant", "content": "2q37 deletion syndrome is a rare chromosome condition that can affect many parts of the body. Approximately 100 cases have been reported worldwide. This condition is characterized by weak muscle tone (hypotonia) in infancy, mild to severe intellectual disability and developmental delay, behavioral problems, characteristic facial features, and other physical abnormalities. 2q37 deletion syndrome is caused by a deletion of the genetic material from a specific region in the long (q) arm of chromosome 2. Most cases are not inherited.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Who is at risk for Sickle Cell Disease? ?"}, {"role": "assistant", "content": "In the United States, most people with sickle cell disease (SCD) are of African ancestry or identify themselves as black.\n \nAbout 1 in 13 African American babies is born with sickle cell trait.\n \nAbout 1 in every 365 black children is born with sickle cell disease.\n \nThere are also many people with this disease who come from Hispanic, southern European, Middle Eastern, or Asian Indian backgrounds.\n \nApproximately 100,000 Americans have SCD.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Schnitzler syndrome ?"}, {"role": "assistant", "content": "Schnitzler syndrome is a rare autoinflammatory condition. Signs and symptoms of the condition vary but may include urticaria; recurrent fevers; joint pain and inflammation; organomegaly (abnormally enlarged organs); and/or blood abnormalities. The exact underlying cause of the condition is unknown; however, most cases occur sporadically in people with no family history of the condition. Treatment is focused on alleviating the signs and symptoms associated with the condition and may include various medications and/or phototherapy.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Skin Cancer ?"}, {"role": "assistant", "content": "Basal cell carcinoma develops in the basal cells of the epidermis, the outer layer of the skin. It is the most common type of skin cancer in the United States, but it spreads slowly and is rarely life-threatening. Basal cell carcinoma occurs most often on parts of the body that have been exposed to the sun, such as the face, ears, neck, hands and legs. However, it can be found on any part of the body.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) What I need to know about Erectile Dysfunction ?"}, {"role": "assistant", "content": "Erectile dysfunction* is when you cannot get or keep an erection firm enough to have sex. You may have ED if you\n \n- can get an erection sometimes, though not every time - can get an erection, yet it does not last long enough for sex - are unable to get an erection at all\n \nED is sometimes called impotence; however, doctors use this term less often now.\n \n\n \n*See the Pronunciation Guide for tips on how to say the words in bold type.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Who is at risk for Neuroblastoma? ?"}, {"role": "assistant", "content": "Key Points\n - Screening tests have risks. - The risks of neuroblastoma screening include the following: - Neuroblastoma may be overdiagnosed. - False-negative test results can occur. - False-positive test results can occur.\n \n \n Screening tests have risks.\n Decisions about screening tests can be difficult. Not all screening tests are helpful and most have risks. Before having any screening test, you may want to discuss the test with your doctor. It is important to know the risks of the test and whether it has been proven to reduce the risk of dying from cancer.\n \n \n The risks of neuroblastoma screening include the following:\n Neuroblastoma may be overdiagnosed. When a screening test result leads to the diagnosis and treatment of a disease that may never have caused symptoms or become life-threatening, it is called overdiagnosis. For example, when a urine test result shows a higher than normal amount of homovanillic acid (HMA) or vanillyl mandelic acid (VMA), tests and treatments for neuroblastoma are likely to be done, but may not be needed. At this time, it is not possible to know which neuroblastomas found by a screening test will cause symptoms and which neuroblastomas will not. Diagnostic tests (such as biopsies) and cancer treatments (such as surgery, radiation therapy, and chemotherapy) can have serious risks, including physical and emotional problems. False-negative test results can occur. Screening test results may appear to be normal even though neuroblastoma is present. A person who receives a false-negative test result (one that shows there is no cancer when there really is) may delay seeking medical care even if there are symptoms. False-positive test results can occur. Screening test results may appear to be abnormal even though no cancer is present. A false-positive test result (one that shows there is cancer when there really isn't) can cause anxiety and is usually followed by more tests and procedures, which also have risks.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to essential thrombocythemia ?"}, {"role": "assistant", "content": "The JAK2 and CALR genes are the most commonly mutated genes in essential thrombocythemia. The MPL, THPO, and TET2 genes can also be altered in this condition. The JAK2, MPL, and THPO genes provide instructions for making proteins that promote the growth and division (proliferation) of blood cells. The CALR gene provides instructions for making a protein with multiple functions, including ensuring the proper folding of newly formed proteins and maintaining the correct levels of stored calcium in cells. The TET2 gene provides instructions for making a protein whose function is unknown. The proteins produced from the JAK2, MPL, and THPO genes are part of a signaling pathway called the JAK/STAT pathway, which transmits chemical signals from outside the cell to the cell's nucleus. These proteins work together to turn on (activate) the JAK/STAT pathway, which promotes the proliferation of blood cells, particularly platelets and their precursor cells, megakaryocytes. Mutations in the JAK2, MPL, and THPO genes that are associated with essential thrombocythemia lead to overactivation of the JAK/STAT pathway. The abnormal activation of JAK/STAT signaling leads to overproduction of megakaryocytes, which results in an increased number of platelets. Excess platelets can cause thrombosis, which leads to many signs and symptoms of essential thrombocythemia. Although mutations in the CALR and TET2 genes have been found in people with essential thrombocythemia, it is unclear how these gene mutations are involved in development of the condition. Some people with essential thrombocythemia do not have a mutation in any of the known genes associated with this condition. Researchers are working to identify other genes that may be involved in the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Opitz G/BBB syndrome inherited ?"}, {"role": "assistant", "content": "When caused by mutations in the MID1 gene, Opitz G/BBB syndrome has an X-linked pattern of inheritance. It is considered X-linked because the MID1 gene is located on the X chromosome, one of the two sex chromosomes in each cell. In males, who have only one X chromosome, a mutation in the only copy of the gene in each cell is sufficient to cause the condition. In females, who have two copies of the X chromosome, one altered copy of the gene in each cell can lead to less severe features of the condition or may cause no symptoms at all. Because it is unlikely that females will have two altered copies of the MID1 gene, females with X-linked Opitz G/BBB syndrome typically have hypertelorism as the only sign of the disorder. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. Rarely, Opitz G/BBB syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. These cases are caused by a mutation in the SPECC1L gene or by a deletion of genetic material from one copy of chromosome 22 in each cell. Males and females with autosomal dominant Opitz G/BBB syndrome usually have the same severity of symptoms. In both types of Opitz G/BBB syndrome, some affected people inherit the genetic change from an affected parent. Other cases may result from new mutations. These cases occur in people with no history of the disorder in their family.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by thiopurine S-methyltransferase deficiency ?"}, {"role": "assistant", "content": "Studies suggest that less than 1 percent of individuals in the general population have TPMT deficiency. Another 11 percent have moderately reduced levels of TPMT activity that increase their risk of hematopoietic toxicity with thiopurine drug treatment.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Causes of Diabetes ?"}, {"role": "assistant", "content": "Insulin Resistance and Beta Cell Dysfunction\n \nHormones produced by the placenta and other pregnancy-related factors contribute to insulin resistance, which occurs in all women during late pregnancy. Insulin resistance increases the amount of insulin needed to control blood glucose levels. If the pancreas cant produce enough insulin due to beta cell dysfunction, gestational diabetes occurs.\n \nAs with type 2 diabetes, excess weight is linked to gestational diabetes. Overweight or obese women are at particularly high risk for gestational diabetes because they start pregnancy with a higher need for insulin due to insulin resistance. Excessive weight gain during pregnancy may also increase risk.\n \nFamily History\n \nHaving a family history of diabetes is also a risk factor for gestational diabetes, suggesting that genes play a role in its development. Genetics may also explain why the disorder occurs more frequently in African Americans, American Indians, and Hispanics/Latinos. Many gene variants or combinations of variants may increase a womans risk for developing gestational diabetes. Studies have found several gene variants associated with gestational diabetes, but these variants account for only a small fraction of women with gestational diabetes.\n \nFuture Risk of Type 2 Diabetes\n \nBecause a womans hormones usually return to normal levels soon after giving birth, gestational diabetes disappears in most women after delivery. However, women who have gestational diabetes are more likely to develop gestational diabetes with future pregnancies and develop type 2 diabetes.3 Women with gestational diabetes should be tested for persistent diabetes 6 to 12 weeks after delivery and at least every 3 years thereafter.\n \nAlso, exposure to high glucose levels during gestation increases a childs risk for becoming overweight or obese and for developing type 2 diabetes later on. The result may be a cycle of diabetes affecting multiple generations in a family. For both mother and child, maintaining a healthy body weight and being physically active may help prevent type 2 diabetes.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to pyridoxal 5'-phosphate-dependent epilepsy ?"}, {"role": "assistant", "content": "Mutations in the PNPO gene cause pyridoxal 5'-phosphate-dependent epilepsy. The PNPO gene provides instructions for producing an enzyme called pyridoxine 5'-phosphate oxidase. This enzyme is involved in the conversion (metabolism) of vitamin B6 derived from food (in the form of pyridoxine and pyridoxamine) to the active form of vitamin B6 called pyridoxal 5'-phosphate (PLP). PLP is necessary for many processes in the body including protein metabolism and the production of chemicals that transmit signals in the brain (neurotransmitters). PNPO gene mutations result in a pyridoxine 5'-phosphate oxidase enzyme that is unable to metabolize pyridoxine and pyridoxamine, leading to a deficiency of PLP. A shortage of PLP can disrupt the function of many other proteins and enzymes that need PLP in order to be effective. It is not clear how the lack of PLP affects the brain and leads to the seizures that are characteristic of pyridoxal 5'-phosphate-dependent epilepsy.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Osteoarthritis ?"}, {"role": "assistant", "content": "People with osteoarthritis may find many non-drug ways to relieve pain. Below are some examples. Heat and cold. Heat or cold (or a combination of the two) can be useful for joint pain. Heat can be applied in a number of different ways -- with warm towels, hot packs, or a warm bath or shower -- to increase blood flow and ease pain and stiffness. In some cases, cold packs (bags of ice or frozen vegetables wrapped in a towel), which reduce inflammation, can relieve pain or numb the sore area. (Check with a doctor or physical therapist to find out if heat or cold is the best treatment.) Transcutaneous electrical nerve stimulation (TENS). TENS is a technique that uses a small electronic device to direct mild electric pulses to nerve endings that lie beneath the skin in the painful area. TENS may relieve some arthritis pain. It seems to work by blocking pain messages to the brain and by modifying pain perception. Massage. In this pain-relief approach, a massage therapist will lightly stroke and/or knead the painful muscles. This may increase blood flow and bring warmth to a stressed area. However, arthritis-stressed joints are sensitive, so the therapist must be familiar with the problems of the disease. Acupuncture. Some people have found pain relief using acupuncture, a practice in which fine needles are inserted by a licensed acupuncture therapist at specific points on the skin. Scientists think the needles stimulate the release of natural, pain-relieving chemicals produced by the nervous system. A large study supported by the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) and the National Center for Complementary and Alternative Medicine (NCCAM) revealed that acupuncture relieves pain and improves function in knee osteoarthritis, and it serves as an effective complement to standard care. Nutritional supplements, such as glucosamine and chondroitin sulfate, have been reported to improve the symptoms of people with osteoarthritis, as have certain vitamins. Additional studies have been carried out to further evaluate these claims. It is unknown whether they might change the course of disease. Folk remedies include the wearing of copper bracelets, following special diets, and rubbing WD-40 on joints to lubricate them. Although these practices may or may not be harmful, no scientific research to date shows that they are helpful in treating osteoarthritis. They can also be expensive, and using them may cause people to delay or even abandon useful medical treatment. For general information about alternative therapies, see the Complementary Health Approaches topic.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Degenerative Nerve Diseases ?"}, {"role": "assistant", "content": "Degenerative nerve diseases affect many of your body's activities, such as balance, movement, talking, breathing, and heart function. Many of these diseases are genetic. Sometimes the cause is a medical condition such as alcoholism, a tumor, or a stroke. Other causes may include toxins, chemicals, and viruses. Sometimes the cause is not known. Degenerative nerve diseases include - Alzheimer's disease - Amyotrophic lateral sclerosis - Friedreich's ataxia - Huntington's disease - Lewy body disease - Parkinson's disease - Spinal muscular atrophy Degenerative nerve diseases can be serious or life-threatening. It depends on the type. Most of them have no cure. Treatments may help improve symptoms, relieve pain, and increase mobility.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Erdheim-Chester disease ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of Erdheim-Chester disease: - Histiocytosis Association: Erdheim-Chester Disease Diagnosis and Treatment These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Pilocytic astrocytoma ?"}, {"role": "assistant", "content": "Pilocytic astrocytoma is an often benign, slow-growing tumor of the brain or spinal cord. The tumor may be in the form of a cyst and usually does not spread to nearby tissues. Symptoms vary depending upon the size and location of the tumor. Most symptoms result from increased pressure on the brain and include headaches, nausea, vomiting, balance problems, and vision abnormalities. The underlying cause of a pilocytic astrocytoma is unknown. It most commonly occurs in children and young adults, and in people with neurofibromatosis type 1 (NF1), Li-Fraumeni syndrome, and tuberous sclerosis. This type of tumor can often be cured with surgery.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Uterine Fibroids ?"}, {"role": "assistant", "content": "Uterine fibroids are the most common benign tumors in women of childbearing age. Fibroids are made of muscle cells and other tissues that grow in and around the wall of the uterus, or womb. The cause of fibroids is unknown. Risk factors include being African American or being overweight. Many women with fibroids have no symptoms. If you do have symptoms, they may include - Heavy or painful periods or bleeding between periods - Feeling \"full\" in the lower abdomen - Urinating often - Pain during sex - Lower back pain - Reproductive problems, such as infertility, multiple miscarriages or early labor Your health care provider may find fibroids during a gynecological exam or by using imaging tests. Treatment includes drugs that can slow or stop their growth, or surgery. If you have no symptoms, you may not even need treatment. Many women with fibroids can get pregnant naturally. For those who cannot, infertility treatments may help. NIH: National Institute of Child Health and Human Development", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Alpers-Huttenlocher syndrome inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Leukemia ?"}, {"role": "assistant", "content": "Unlike other types of cancer, leukemia isn't a tumor that your doctor can surgically remove. Leukemia cells are produced in the bone marrow and travel throughout the body. The Goal of Treatment The goal of treatment for leukemia is to destroy the leukemia cells and allow normal cells to form in the bone marrow. Depending on the type and extent of the disease, patients may have chemotherapy, biological therapy, radiation therapy, or stem cell transplantation. Some patients receive a combination of treatments. Treatment depends on a number of factors, including the type of leukemia, the patient's age and general health, whether leukemia cells are present in the fluid around the brain or spinal cord, and whether the leukemia has been treated before. It also may depend on certain features of the leukemia cells and the patient's symptoms. Acute Leukemia or Chronic Leukemia? If a person has acute leukemia, they will need treatment right away. The purpose of treatment is to stop the rapid growth of leukemia cells and to bring about remission, meaning the cancer is under control. In many cases, a person will continue treatment after signs and symptoms disappear to prevent the disease from coming back. Some people with acute leukemia can be cured. Learn more about treatments for acute myeloid leukemia. Learn more about treatments for chronic lymphocytic leukemia. Chronic leukemia may not need to be treated until symptoms appear. Treatment can often control the disease and its symptoms. Types of Treatments Some, but not all, forms of treatment for leukemia include - chemotherapy - biological therapy - radiation therapy. chemotherapy biological therapy radiation therapy. Chemotherapy Chemotherapy uses drugs to kill cancer cells. This a common treatment for some types of leukemia. Chemotherapy may be taken by mouth in pill form, by injection directly into a vein, or through a catheter. If leukemia cells are found in the fluid around the brain or spinal cord, the doctor may inject drugs directly into the fluid to ensure that the drugs reach the leukemia cells in the brain. Biological Therapy Biological therapy uses special substances that improve the body's natural defenses against cancer. Some patients with chronic lymphocytic leukemia receive monoclonal antibodies, which are man-made proteins that can identify leukemia cells. Monoclonal antibodies bind to the cells and assist the body in killing them. Although monoclonal antibodies are being used to treat leukemia, researchers are studying more innovative ways to use them in treatment. Some antibodies are used alone to try to prompt the immune system to attack leukemia cells. Other antibodies are attached to substances that can deliver poison to cancer cells. These modified antibodies, called immunotoxins, deliver the toxins directly to the cancer cells. Lately, precision medicine trials have shown evidence that single targeted therapies taken in pill form can prolong survival. Radiation Therapy Radiation therapy uses high-energy X-rays to destroy cancer cells. A machine outside the body directs high-energy beams at the spleen, the brain, or other parts of the body where leukemia cells have collected. Radiation therapy is used primarily to control disease in bones that are at risk of fracture or at sites that are causing pain.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Usher syndrome, type 2C inherited ?"}, {"role": "assistant", "content": "How is Usher syndrome inherited? Usher syndrome is inherited in an autosomal recessive manner. This means that a person must have a change (mutation) in both copies of the disease-causing gene in each cell to have Usher syndrome. One mutated copy is typically inherited from each parent, who are each referred to as a carrier. Carriers of an autosomal recessive condition usually do not have any signs or symptoms. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) chance to have the condition, a 50% (1 in 2) chance to be an unaffected carrier like each parent, and a 25% chance to not be a carrier and not be affected.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Cardiomyopathy ?"}, {"role": "assistant", "content": "People who have cardiomyopathy but no signs or symptoms may not need treatment. Sometimes, dilated cardiomyopathy that comes on suddenly may go away on its own. For other people who have cardiomyopathy, treatment is needed. Treatment depends on the type of cardiomyopathy you have, the severity of your symptoms and complications, and your age and overall health. Treatments may include:\n \nHeart-healthy lifestyle changes\n \nMedicines\n \nNonsurgical procedure\n \nSurgery and implanted devices\n \nThe main goals of treating cardiomyopathy include:\n \nControlling signs and symptoms so that you can live as normally as possible\n \nManaging any conditions that cause or contribute to the disease\n \nReducing complications and the risk of sudden cardiac arrest\n \nStopping the disease from getting worse\n \nHeart-Healthy Lifestyle Changes\n \nYour doctor may suggest lifestyle changes to manage a condition thats causing your cardiomyopathy including:\n \nHeart-healthy eating\n \nMaintaining a healthy weight\n \nManaging stress\n \nPhysical activity\n \nQuitting smoking\n \nHeart-Healthy Eating\n \nYour doctor may recommend heart-healthy eating, which should include:\n \nFat-free or low-fat dairy products, such as fat-free milk\n \nFish high in omega-3 fatty acids, such as salmon, tuna, and trout, about twice a week\n \nFruits, such as apples, bananas, oranges, pears, and prunes\n \nLegumes, such as kidney beans, lentils, chickpeas, black-eyed peas, and lima beans\n \nVegetables, such as broccoli, cabbage, and carrots\n \nWhole grains, such as oatmeal, brown rice, and corn tortillas\n \nWhen following a heart-healthy diet, you should avoid eating:\n \nA lot of red meat\n \nPalm and coconut oils\n \nSugary foods and beverages\n \nTwo nutrients in your diet make blood cholesterol levels rise:\n \nSaturated fatfound mostly in foods that come from animals\n \nTrans fat (trans fatty acids)found in foods made with hydrogenated oils and fats such as stick margarine;baked goods such as, cookies, cakes, and pies, crackers, frostings, and coffee creamers. Some trans fats also occur naturally in animal fats and meats.\n \nSaturated fat raises your blood cholesterol more than anything else in your diet. When you follow a heart-healthy eating plan, only 5 percent to 6percent of your daily calories should come from saturated fat. Food labels list the amounts of saturated fat. To help you stay on track, here are some examples:\n \nNot all fats are bad. Monounsaturated and polyunsaturated fats actually help lower blood cholesterol levels.\n \nSome sources of monounsaturated and polyunsaturated fats are:\n \nAvocados\n \nCorn, sunflower, and soybean oils\n \nNuts and seeds, such as walnuts\n \nOlive, canola, peanut, safflower, and sesame oils\n \nPeanut butter\n \nSalmon and trout\n \nTofu\n \nSodium\n \nTry to limit the amount of sodium that you eat. This means choosing and preparing foods that are lower in salt and sodium. Try to use low-sodium and no added salt foods and seasonings at the table or while cooking. Food labels tell you what you need to know about choosing foods that are lower in sodium. Try to eat no more than 2,300 milligrams of sodium a day. If you have high blood pressure, you may need to restrict your sodium intake even more.\n \nDietary Approaches to Stop Hypertension\n \nYour doctor may recommend the Dietary Approaches to Stop Hypertension (DASH) eating plan if you have high blood pressure. The DASH eating plan focuses on fruits, vegetables, whole grains, and other foods that are heart healthy and low in fat, cholesterol, and sodium and salt.\n \nThe DASH eating plan is a good heart-healthy eating plan, even for those who dont have high blood pressure. Read more about DASH.\n \nAlcohol\n \nTalk to your doctor about how much alcohol you drink. Too much alcohol canraise your blood pressure and triglyceride levels, a type of fat found in the blood. Alcohol also adds extra calories, which may cause weight gain. Your doctor may recommend that you reduce the amount of alcohol you drinkor stop drinking alcohol.\n \n\n \nMaintaining a Healthy Weight\n \nMaintaining a healthy weight is important for overall health and can lower your risk for coronary heart disease. Aim for a Healthy Weight by following a heart-healthy eating plan and keeping physically active.\n \nKnowing your body mass index (BMI) helps you find out if youre a healthy weight in relation to your height and gives an estimate of your total body fat. To figure out your BMI, check out the National Heart, Lung, and Blood Institutes (NHLBI) onlineBMI calculatoror talk to your doctor.A BMI:\n \nBelow 18.5 is a sign that you are underweight.\n \nBetween 18.5 and 24.9 is in the normal range.\n \nBetween 25 and 29.9 is considered overweight.\n \nOf 30 or more is considered obese.\n \nA general goal to aim for is a BMI of less than 25. Your doctor or health care provider can help you set an appropriate BMI goal.\n \nMeasuring waist circumference helps screen for possible health risks. If most of your fat is around your waist rather than at your hips, youre at a higher risk for heart disease and type 2 diabetes. This risk may be high with a waist size that is greater than 35 inches for women or greater than 40 inches for men. To learn how to measure your waist, visitAssessing Your Weight and Health Risk.\n \nIf youre overweight or obese, try to lose weight. A loss of just 3 percent to 5 percent of your current weight can lower your triglycerides, blood glucose, and the risk of developing type 2 diabetes. Greater amounts of weight loss can improve blood pressure readings, lower LDL cholesterol, and increase HDL cholesterol.\n \n\n \nManaging Stress\n \nResearch shows that the most commonly reported trigger for a heart attack is an emotionally upsetting eventparticularly one involving anger. Also, some of the ways people cope with stresssuch as drinking, smoking, or overeatingarent healthy.\n \nLearning how to manage stress, relax, and cope with problems can improve your emotional and physical health.Consider healthy stress-reducing activities, such as:\n \nA stress management program\n \nMeditation\n \nPhysical activity\n \nRelaxation therapy\n \nTalking things out with friends or family\n \n\n \nPhysical Activity\n \nRoutine physical activity can lower many risk factors for coronary heart disease, including LDL (bad) cholesterol, high blood pressure, and excess weight. Physical activity also can lower your risk for diabetes and raise your HDL cholesterol level. HDL is the good cholesterol that helps prevent coronary heart disease.\n \nEveryone should try to participate in moderate intensity aerobic exercise at least 2hours and 30minutes per week, or vigorous intensity aerobic exercise for 1hour and 15minutes per week. Aerobic exercise, such as brisk walking, is any exercise in which your heart beats fasterand you use more oxygen than usual. The more active you are, the more you will benefit. Participate in aerobic exercise for at least 10 minutes at a time spread throughout the week.\n \nRead more about physical activity at:\n \nPhysical Activity and Your Heart\n \nU.S. Department of Health and Human Services 2008 Physical Activity Guidelines forAmericans\n \nTalk with your doctor before you start a new exercise plan. Ask your doctor how much and what kinds of physical activity are safe for you.\n \n\n \nQuitting Smoking\n \nIf you smoke, quit. Smoking can raise your risk for coronary heart disease and heart attack and worsen other coronary heart disease risk factors. Talk with your doctor about programs and products that can help you quit smoking. Also, try to avoid secondhand smoke.\n \nIf you have trouble quitting smoking on your own, consider joining a support group. Many hospitals, workplaces, and community groups offer classes to help people quit smoking.\n \nRead more about quitting smoking at Smoking and Your Heart.\n \n\n \nMedicines\n \nMany medicines are used to treat cardiomyopathy. Your doctor may prescribe medicines to:\n \nBalance electrolytes in your body. Electrolytes are minerals that help maintain fluid levels and acid-base balance in the body. They also help muscle and nerve tissues work properly. Abnormal electrolyte levels may be a sign of dehydration (lack of fluid in your body), heart failure, high blood pressure, or other disorders. Aldosterone blockers are an example of a medicine used to balance electrolytes.\n \nKeep your heart beating with a normal rhythm. These medicines, called antiarrhythmics, help prevent arrhythmias.\n \nLower your blood pressure. ACE inhibitors, angiotensin II receptor blockers, beta blockers, and calcium channel blockers are examples of medicines that lower blood pressure.\n \nPrevent blood clots from forming. Anticoagulants, or blood thinners, are an example of a medicine that prevents blood clots. Blood thinners often are used to prevent blood clots from forming in people who have dilated cardiomyopathy.\n \nReduce inflammation. Corticosteroids are an example of a medicine used to reduce inflammation.\n \nRemove excess sodium from your body. Diuretics, or water pills, are an example of medicines that help remove excess sodium from the body, which reduces the amount of fluid in your blood.\n \nSlow your heart rate. Beta blockers, calcium channel blockers, and digoxin are examples of medicines that slow the heart rate. Beta blockers and calcium channel blockers also are used to lower blood pressure.\n \nTake all medicines regularly, as your doctor prescribes. Dont change the amount of your medicine or skip a dose unless your doctor tells you to.\n \nSurgery and Implanted Devices\n \nDoctors use several types of surgery to treat cardiomyopathy, including septal myectomy, surgically implanted devices, and heart transplant.\n \nSeptal Myectomy\n \nSeptal myectomy is open-heart surgery and is used to treat people who have hypertrophic cardiomyopathy and severe symptoms. This surgery generally is used for younger patients and for people whose medicines arent working well.\n \nA surgeon removes part of the thickened septum thats bulging into the left ventricle. This improves blood flow through the heart and out to the body. The removed tissue doesnt grow back. If needed, the surgeon also can repair or replace the mitral valve at the same time. Septal myectomy often is successful and allows you to return to a normal life with nosymptoms.\n \nSurgically Implanted Devices\n \nSurgeons can place several types of devices in the heart to improve function and symptoms, including:\n \nCardiac resynchronization therapy (CRT) device. A CRT device coordinates contractions between the hearts left and right ventricles.\n \nImplantable cardioverter defibrillator(ICD). An ICD helps control life-threatening arrhythmias that may lead tosudden cardiac arrest. This small device is implanted in the chest or abdomen and connected to the heart with wires. If an ICD senses a dangerous change in heart rhythm, it will send an electric shock to the heart to restore a normal heartbeat.\n \nLeft ventricular assist device (LVAD). This device helps the heart pump blood to the body. An LVAD can be used as a long-term therapy or as a short-term treatment for people who are waiting for a heart transplant.\n \nPacemaker. This small device is placed under the skin of your chest or abdomen to help control arrhythmias. The device uses electrical pulses to prompt the heart to beat at a normal rate.\n \nHeart Transplant\n \nFor this surgery, a surgeon replaces a persons diseased heart with a healthy heart from a deceased donor. A heart transplant is a last resort treatment for people who have end-stage heart failure. End-stage means the condition has become so severe that all treatments, other than heart transplant, have failed. For more information about this treatment, go to the Heart Transplant Health Topic.\n \nNonsurgical Procedure\n \nDoctors may use a nonsurgical procedure called alcohol septal ablation to treat cardiomyopathy. During this procedure, the doctor injects ethanol (a type of alcohol) through a tube into the small artery that supplies blood to the thickened area of heart muscle. The alcohol kills cells, and the thickened tissue shrinks to a more normal size. This procedure allows blood to flow freely through the ventricle, which improves symptoms.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Dementia ?"}, {"role": "assistant", "content": "Drugs to specifically treat Alzheimers disease and some other progressive dementias are now available. Although these drugs do not halt the disease or reverse existing brain damage, they can improve symptoms and slow the progression of the disease. This may improve an individuals quality of life, ease the burden on caregivers, or delay admission to a nursing home. Many researchers are also examining whether these drugs may be useful for treating other types of dementia. Many people with dementia, particularly those in the early stages, may benefit from practicing tasks designed to improve performance in specific aspects of cognitive functioning. For example, people can sometimes be taught to use memory aids, such as mnemonics, computerized recall devices, or note taking.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Von Willebrand Disease ?"}, {"role": "assistant", "content": "Early diagnosis of von Willebrand disease (VWD) is important to make sure that you're treated and can live a normal, active life.\n \nSometimes VWD is hard to diagnose. People who have type 1 or type 2 VWD may not have major bleeding problems. Thus, they may not be diagnosed unless they have heavy bleeding after surgery or some other trauma.\n \nOn the other hand, type 3 VWD can cause major bleeding problems during infancy and childhood. So, children who have type 3 VWD usually are diagnosed during their first year of life.\n \nTo find out whether you have VWD, your doctor will review your medical history and the results from a physical exam and tests.\n \nMedical History\n \nYour doctor will likely ask questions about your medical history and your family's medical history. He or she may ask about:\n \nAny bleeding from a small wound that lasted more than 15 minutes or started up again within the first 7 days following the injury.\n \nAny prolonged, heavy, or repeated bleeding that required medical care after surgery or dental extractions.\n \nAny bruising with little or no apparent trauma, especially if you could feel a lump under the bruise.\n \nAny nosebleeds that occurred for no known reason and lasted more than 10 minutes despite pressure on the nose, or any nosebleeds that needed medical attention.\n \nAny blood in your stools for no known reason.\n \nAny heavy menstrual bleeding (for women). This bleeding usually involves clots or lasts longer than 7 to 10 days.\n \nAny history of muscle or joint bleeding.\n \nAny medicines you've taken that might cause bleeding or increase the risk of bleeding. Examples include aspirin and other nonsteroidal anti-inflammatory drugs (NSAIDs), clopidogrel, warfarin, or heparin.\n \nAny history of liver or kidney disease, blood or bone marrow disease, or high or low blood platelet counts.\n \nPhysical Exam\n \nYour doctor will do a physical exam to look for unusual bruising or other signs of recent bleeding. He or she also will look for signs of liver disease or anemia (a low red blood cell count).\n \nDiagnostic Tests\n \nNo single test can diagnose VWD. Your doctor may recommend one or more blood tests to diagnose the disorder. These tests may include:\n \nVon Willebrand factor antigen. This test measures the amount of von Willebrand factor in your blood.\n \nVon Willebrand factor ristocetin (ris-to-SEE-tin) cofactor activity. This test shows how well your von Willebrand factor works.\n \nFactor VIII clotting activity. This test checks the clotting activity of factor VIII. Some people who have VWD have low levels of factor VIII activity, while others have normal levels.\n \nVon Willebrand factor multimers. This test is done if one or more of the first three tests are abnormal. It shows the structure of your von Willebrand factor. The test helps your doctor diagnose what type of VWD you have.\n \nPlatelet function test. This test measures how well your platelets are working.\n \nYou may have these tests more than once to confirm a diagnosis. Your doctor also may refer you to a hematologist to confirm the diagnosis and for followup care. A hematologist is a doctor who specializes in diagnosing and treating blood disorders.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Alopecia totalis ?"}, {"role": "assistant", "content": "Alopecia totalis (AT) is a condition characterized by the complete loss of hair on the scalp. It is an advanced form of alopecia areata a condition that causes round patches of hair loss. Although the exact cause of AT is unknown, it is thought to be an autoimmune condition in which the immune system mistakenly attacks the hair follicles. Roughly 20% of affected people have a family member with alopecia, suggesting that genetic factors may contribute to the development of AT. There is currently no cure for AT, but sometimes hair regrowth occurs on it's own, even after many years.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Best vitelliform macular dystrophy ?"}, {"role": "assistant", "content": "Best vitelliform macular dystrophy (BVMD) is a slowly progressive form of macular degeneration. It usually begins in childhood or adolescence, but age of onset and severity of vision loss can vary. Affected people first have normal vision, followed by decreased central visual acuity and distorted vision (metamorphopsia). Peripheral vision is not affected. BVMD is usually inherited in an autosomal dominant manner, but autosomal recessive inheritance has been reported. The condition is typically caused by mutations in the BEST1 gene; in a few cases the cause is unknown. Treatment is symptomatic and involves the use of low vision aids.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Mental retardation-hypotonic facies syndrome X-linked, 1 ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Mental retardation-hypotonic facies syndrome X-linked, 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Mental retardation-hypotonic facies syndrome X-linked, 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the palate 90% Anteverted nares 90% Cognitive impairment 90% Depressed nasal bridge 90% Microcephaly 90% Narrow forehead 90% Short stature 90% Tented upper lip vermilion 90% Behavioral abnormality 50% Genu valgum 50% Neurological speech impairment 50% Obesity 50% Seizures 35% Abnormality of the hip bone 7.5% Camptodactyly of finger 7.5% Cryptorchidism 7.5% Low posterior hairline 7.5% Wide mouth 7.5% Abnormality of blood and blood-forming tissues - Brachydactyly syndrome - Coarse facial features - Constipation - Decreased testicular size - Delayed skeletal maturation - Dolichocephaly - Drooling - Epicanthus - Exotropia - Gastroesophageal reflux - High palate - Hyperactivity - Hyperreflexia - Hypertelorism - Hypogonadism - Hypoplasia of midface - Hypospadias - Infantile muscular hypotonia - Intellectual disability, progressive - Intellectual disability, severe - Kyphoscoliosis - Lower limb hypertonia - Low-set ears - Macroglossia - Malar flattening - Micropenis - Microtia - Open mouth - Optic atrophy - Paroxysmal bursts of laughter - Pes planus - Phenotypic variability - Posteriorly rotated ears - Protruding tongue - Ptosis - Radial deviation of finger - Renal hypoplasia - Scrotal hypoplasia - Sensorineural hearing impairment - Short neck - Short upper lip - Slender finger - Talipes calcaneovalgus - Talipes equinovarus - Tapered finger - Thick lower lip vermilion - Triangular nasal tip - Upslanted palpebral fissure - U-Shaped upper lip vermilion - Vesicoureteral reflux - Vomiting - Wide nasal bridge - Widely-spaced maxillary central incisors - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Who is at risk for Oral Cavity and Oropharyngeal Cancer? ?"}, {"role": "assistant", "content": "Different factors increase or decrease the risk of oral cavity and oropharyngeal cancer. Anything that increases your chance of getting a disease is called a risk factor. Anything that decreases your chance of getting a disease is called a protective factor. For information about risk factors and protective factors for oral cavity and oropharyngeal cancer, see the PDQ summary on Oral Cavity and Oropharyngeal Cancer Prevention.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Floating-Harbor syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Floating-Harbor syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Floating-Harbor syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the eyelashes 90% Abnormality of the voice 90% Abnormality of thumb phalanx 90% Broad columella 90% Delayed skeletal maturation 90% Limitation of joint mobility 90% Low-set, posteriorly rotated ears 90% Neurological speech impairment 90% Short neck 90% Short philtrum 90% Short stature 90% Thin vermilion border 90% Wide mouth 90% Wide nasal bridge 90% Abnormality of immune system physiology 50% Abnormality of the clavicle 50% Abnormality of the soft palate 50% Brachydactyly syndrome 50% Camptodactyly of finger 50% Clinodactyly of the 5th finger 50% Cognitive impairment 50% Constipation 50% Deeply set eye 50% Hypertrichosis 50% Intrauterine growth retardation 50% Joint dislocation 50% Joint hypermobility 50% Malabsorption 50% Triangular face 50% Underdeveloped nasal alae 50% Abnormality of the fingernails 7.5% Abnormality of the urethra 7.5% Attention deficit hyperactivity disorder 7.5% Hypoplasia of penis 7.5% Strabismus 7.5% Telecanthus 7.5% Trigonocephaly 7.5% Atria septal defect 5% Coarctation of aorta 5% Conductive hearing impairment 5% Congenital posterior urethral valve 5% Cryptorchidism 5% Hydronephrosis 5% Hypermetropia 5% Hypospadias 5% Inguinal hernia 5% Mesocardia 5% Nephrocalcinosis 5% Persistent left superior vena cava 5% Recurrent otitis media 5% Umbilical hernia 5% Varicocele 5% Autosomal dominant inheritance - Celiac disease - Cone-shaped epiphyses of the phalanges of the hand - Downturned corners of mouth - Expressive language delay - Hirsutism - Joint laxity - Long eyelashes - Low posterior hairline - Posteriorly rotated ears - Prominent nose - Smooth philtrum - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Dementia With Lewy Bodies ?"}, {"role": "assistant", "content": "There is no cure for DLB. Treatments are aimed at controlling the cognitive, psychiatric, and motor symptoms of the disorder. Acetylcholinesterase inhibitors, such as donepezil and rivastigmine, are primarily used to treat the cognitive symptoms of DLB, but they may also be of some benefit in reducing the psychiatric and motor symptoms. Doctors tend to avoid prescribing antipsychotics for hallucinatory symptoms of DLB because of the risk that neuroleptic sensitivity could worsen the motor symptoms. Some individuals with DLB may benefit from the use of levodopa for their rigidity and loss of spontaneous movement.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) C1q deficiency ?"}, {"role": "assistant", "content": "C1q deficiency is a rare disorder associated with recurrent skin lesions, chronic infections, systemic lupus erythematosus (SLE) or SLE-like diseases. It has also been associated with a kidney disease known as mesangial proliferative glomerulonephritis. C1q is a protein and together with other proteins, C1r and C1s, it forms the C1 complex. This complex is important for the activation of the complement system (a group of proteins that work with the immune system). It also disposes cells that are dead. C1q deficiency presents in 2 different forms, absent C1q protein or abnormal C1q protein. Symptoms include infections (ear infections (otitis media), meningitis, urinary tract infections, oral infections); skin lesions (small blisters (vesicles), dark patches, and atrophic areas) that get worse upon light exposure; cataracts; loss of eyelashes, eyebrows, and scalp hair; blood in urine; and glomerulonephritis. About 93% of cases are associated with systemic lupus erythematosus. It can be caused by mutations in the C1QA, C1QB or C1QC genes and is inherited in an autosomal recessive pattern. Treatment depends on the symptoms. Recently, it was shown that C1q production can be restored by allogeneic hematopoietic stem cell transplantation, a procedure in which a person receives blood-forming stem cells (cells from which all blood cells develop) from a genetically similar, but not identical donor.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by ALG1-congenital disorder of glycosylation ?"}, {"role": "assistant", "content": "ALG1-CDG appears to be a rare disorder; fewer than 30 affected individuals have been described in the scientific literature.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Oculodentodigital dysplasia ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Oculodentodigital dysplasia? Individuals with oculodentodigital dysplasia commonly have small eyes (microphthalmia) and other eye abnormalities that can lead to vision loss. They also frequently have tooth abnormalities, such as small or missing teeth, weak enamel, multiple cavities, and early tooth loss. Other common features of this condition include a thin nose and webbing of the skin (syndactyly) between the fourth and fifth fingers. Less common features of oculodentodigital dysplasia include sparse hair growth (hypotrichosis), brittle nails, an unusual curvature of the fingers (camptodactyly), syndactyly of the toes, small head size (microcephaly), and an opening in the roof of the mouth (cleft palate). Some affected individuals experience neurological problems such as a lack of bladder or bowel control, difficulty coordinating movements (ataxia), abnormal muscle stiffness (spasticity), hearing loss, and impaired speech (dysarthria). A few people with oculodentodigital dysplasia also have a skin condition called palmoplantar keratoderma. Palmoplantar keratoderma causes the skin on the palms and the soles of the feet to become thick, scaly, and calloused. Some features of oculodentodigital dysplasia are evident at birth, while others become apparent with age. The Human Phenotype Ontology provides the following list of signs and symptoms for Oculodentodigital dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of dental enamel 90% Anteverted nares 90% Broad columella 90% Camptodactyly of finger 90% Carious teeth 90% Cleft palate 90% Clinodactyly of the 5th finger 90% Finger syndactyly 90% Microcornea 90% Narrow nasal bridge 90% Premature loss of primary teeth 90% Reduced number of teeth 90% Toe syndactyly 90% Underdeveloped nasal alae 90% Abnormal cortical bone morphology 50% Abnormal hair quantity 50% Abnormality of the fingernails 50% Abnormality of the metaphyses 50% Abnormality of the urinary system 50% Aplasia/Hypoplasia of the cerebellum 50% Broad alveolar ridges 50% Cataract 50% Cerebral calcification 50% Cognitive impairment 50% Conductive hearing impairment 50% Craniofacial hyperostosis 50% External ear malformation 50% Gait disturbance 50% Glaucoma 50% Hemiplegia/hemiparesis 50% High forehead 50% Hypermetropia 50% Hyperreflexia 50% Hypertelorism 50% Hypertonia 50% Hypotelorism 50% Incoordination 50% Mandibular prognathia 50% Median cleft lip 50% Muscle weakness 50% Myopia 50% Neurological speech impairment 50% Optic atrophy 50% Seizures 50% Short nose 50% Slow-growing hair 50% Visual impairment 50% Abnormal diaphysis morphology 7.5% Abnormal form of the vertebral bodies 7.5% Abnormality of the clavicle 7.5% Aplasia/Hypoplasia of the iris 7.5% Arrhythmia 7.5% Blepharophimosis 7.5% Brachydactyly syndrome 7.5% Deeply set eye 7.5% Epicanthus 7.5% Fine hair 7.5% Hypoglycemia 7.5% Madelung deformity 7.5% Non-midline cleft lip 7.5% Nystagmus 7.5% Palmoplantar keratoderma 7.5% Preaxial hand polydactyly 7.5% Short hallux 7.5% Strabismus 7.5% Taurodontia 7.5% Umbilical hernia 7.5% Upslanted palpebral fissure 7.5% Ventricular septal defect 7.5% Abnormality of the pinna 5% Atria septal defect 5% Neurogenic bladder 5% 3-4 toe syndactyly - 4-5 finger syndactyly - Ataxia - Autosomal dominant inheritance - Basal ganglia calcification - Cleft upper lip - Clinodactyly - Cubitus valgus - Dry hair - Dysarthria - Fragile nails - Hip dislocation - Hyperactive deep tendon reflexes - Hypoplasia of dental enamel - Intellectual disability - Joint contracture of the 5th finger - Microcephaly - Microdontia - Microphthalmia - Paraparesis - Premature loss of teeth - Selective tooth agenesis - Short middle phalanx of the 5th finger - Short palpebral fissure - Sparse hair - Spasticity - Tetraparesis - Thin anteverted nares - Vertebral hyperostosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Chromosome 8p deletion ?"}, {"role": "assistant", "content": "Chromosome 8p deletion is a chromosome abnormality that affects many different parts of the body. People with this condition are missing genetic material located on the short arm (p) of chromosome 8 in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the deletion and which genes are involved. Most cases are not inherited, although affected people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is epidermolysis bullosa simplex inherited ?"}, {"role": "assistant", "content": "Epidermolysis bullosa simplex is usually inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Some affected people inherit the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family. In rare cases, epidermolysis bullosa simplex is inherited in an autosomal recessive pattern. Autosomal recessive inheritance means the condition results when two copies of the gene in each cell are altered. The parents of an individual with an autosomal recessive disorder typically each carry one copy of the altered gene, but do not show signs and symptoms of the disorder.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What to do for What I need to know about Crohn's Disease ?"}, {"role": "assistant", "content": "Your health care provider may start you on a special diet, so you get extra nutrition and calories. High-calorie liquid supplements are often used to give you the extra calories and right amount of vitamins and minerals to keep you healthy. During acute phases of the disease, you may need to receive intravenous nutrition to give the intestine a rest.\n \nNo foods are known to cause injury or inflammation to the intestine. But foods such as hot spices, alcohol, greasy foods, and milk products may make diarrhea and cramping worse. You should eat a healthy diet and avoid foods that make symptoms worse. Your health care provider may refer you to a dietitian to help you with meal planning.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is tibial muscular dystrophy inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for congenital deafness with labyrinthine aplasia, microtia, and microdontia ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of LAMM syndrome: - Gene Review: Gene Review: Congenital Deafness with Labyrinthine Aplasia, Microtia, and Microdontia - Genetic Testing Registry: Deafness with labyrinthine aplasia microtia and microdontia (LAMM) These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Tuberous sclerosis, type 1 ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Tuberous sclerosis, type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Tuberous sclerosis, type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Intellectual disability 30% Abnormality of the respiratory system - Achromatic retinal patches - Astrocytoma - Attention deficit hyperactivity disorder - Autism - Autosomal dominant inheritance - Cafe-au-lait spot - Cerebral calcification - Chordoma - Dental enamel pits - Ependymoma - Gingival fibromatosis - Hypomelanotic macule - Hypothyroidism - Infantile spasms - Optic glioma - Phenotypic variability - Precocious puberty - Premature chromatid separation - Projection of scalp hair onto lateral cheek - Renal angiomyolipoma - Renal cell carcinoma - Renal cyst - Shagreen patch - Specific learning disability - Subcutaneous nodule - Subependymal nodules - Subungual fibromas - Wolff-Parkinson-White syndrome - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Squamous cell carcinoma ?"}, {"role": "assistant", "content": "Squamous cell carcinoma (SCC) is the second most common skin cancer. SCC most often affects individuals who are exposed to large amounts of sunlight. It is typically characterized by a red papule or plaque with a scaly or crusted surface; it may be suspected whenever a small, firm reddish-colored skin lesion, growth or bump appears on the skin, but it may also be a flat growth with a curly and crusted surface. Most often these growths are located on the face, ears, neck, hands and/or arms, but they may occur on the lips, mouth, tongue, genitalia or other area. The most common causes of SCC are radiation from the sun and arsenic exposure. With appropriate treatment, it is usually curable.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for alpha-methylacyl-CoA racemase deficiency ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of AMACR deficiency: - Genetic Testing Registry: Alpha-methylacyl-CoA racemase deficiency - Kennedy Krieger Institute: Peroxisomal Diseases These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Who is at risk for High Blood Pressure? ?"}, {"role": "assistant", "content": "Anyone can develop high blood pressure; however, age, race or ethnicity, being overweight, gender, lifestyle habits, and a family history of high blood pressure can increase your risk for developing high blood pressure.\n \nAge\n \nBlood pressure tends to rise with age. About 65 percent of Americans age 60 or older have high blood pressure. However, the risk for prehypertension and high blood pressure is increasing for children and teens, possibly due to the rise in the number of overweight children and teens.\n \nRace/Ethnicity\n \nHigh blood pressure is more common in African American adults than in Caucasian or Hispanic American adults. Compared with these ethnic groups, African Americans:\n \nTend to get high blood pressure earlier in life.\n \nOften, on average, have higher blood pressure numbers.\n \nAre less likely to achieve target blood pressure goals with treatment.\n \nOverweight\n \nYou are more likely to develop prehypertension or high blood pressure if youre overweight or obese. The terms overweight and obese refer to body weight thats greater than what is considered healthy for a certain height.\n \nGender\n \nBefore age 55, men are more likely than women to develop high blood pressure. After age 55, women are more likely than men to develop high blood pressure.\n \nLifestyle Habits\n \nUnhealthy lifestyle habits can raise your risk for high blood pressure, and they include:\n \nEating too much sodium or too little potassium\n \nLack of physical activity\n \nDrinking too much alcohol\n \nStress\n \nFamily History\n \nA family history of high blood pressure raises the risk of developing prehypertension or high blood pressure. Some people have a high sensitivity to sodium and salt, which may increase their risk for high blood pressure and may run in families. Genetic causes of this condition are why family history is a risk factor for this condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Lipodystrophy, familial partial, type 2 ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Lipodystrophy, familial partial, type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Lipodystrophy, familial partial, type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of lipid metabolism 90% Diabetes mellitus 90% Hepatomegaly 90% Insulin resistance 90% Lipoatrophy 90% Multiple lipomas 90% Round face 90% Skeletal muscle hypertrophy 90% Acute pancreatitis 75% Abnormality of the nail 50% Advanced eruption of teeth 50% Secondary amenorrhea 50% Thin skin 50% Abnormality of complement system 7.5% Acanthosis nigricans 7.5% Cellulitis 7.5% Congestive heart failure 7.5% Coronary artery disease 7.5% Cranial nerve paralysis 7.5% Glomerulopathy 7.5% Hepatic steatosis 7.5% Hypertrichosis 7.5% Hypertrophic cardiomyopathy 7.5% Myalgia 7.5% Myopathy 7.5% Polycystic ovaries 7.5% Splenomegaly 7.5% Toxemia of pregnancy 7.5% Adipose tissue loss - Atherosclerosis - Autosomal dominant inheritance - Decreased subcutaneous fat - Enlarged peripheral nerve - Hirsutism - Hyperglycemia - Hyperinsulinemia - Hypertension - Hypertriglyceridemia - Hypoalphalipoproteinemia - Increased adipose tissue around the neck - Increased facial adipose tissue - Increased intraabdominal fat - Increased intramuscular fat - Insulin-resistant diabetes mellitus - Labial pseudohypertrophy - Loss of subcutaneous adipose tissue in limbs - Loss of truncal subcutaneous adipose tissue - Prominent superficial veins - Xanthomatosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Costello syndrome ?"}, {"role": "assistant", "content": "Costello syndrome is a disorder that affects many parts of the body. This condition is characterized by delayed development and intellectual disability, loose folds of skin (which are especially noticeable on the hands and feet), unusually flexible joints, and distinctive facial features including a large mouth. Heart problems are common, including an abnormal heartbeat (arrhythmia), structural heart defects, and a type of heart disease that enlarges and weakens the heart muscle (hypertrophic cardiomyopathy). Infants with Costello syndrome may be larger than average at birth, but most have difficulty feeding and grow more slowly than other children. People with this condition have relatively short stature and may have reduced growth hormone levels. Other signs and symptoms of Costello syndrome can include tight Achilles tendons (which connect the calf muscles to the heel), weak muscle tone (hypotonia), a structural abnormality of the brain called a Chiari I malformation, skeletal abnormalities, dental problems, and problems with vision. Beginning in early childhood, people with Costello syndrome are at an increased risk of developing certain cancerous and noncancerous tumors. The most common noncancerous tumors associated with this condition are papillomas, which are small, wart-like growths that usually develop around the nose and mouth or near the anus. The most common cancerous tumor associated with Costello syndrome is a childhood cancer called rhabdomyosarcoma, which begins in muscle tissue. Neuroblastoma, a tumor that arises in developing nerve cells, also has been reported in children and adolescents with this syndrome. In addition, some teenagers with Costello syndrome have developed transitional cell carcinoma, a form of bladder cancer that is usually seen in older adults. The signs and symptoms of Costello syndrome overlap significantly with those of two other genetic conditions, cardiofaciocutaneous syndrome (CFC syndrome) and Noonan syndrome. In affected infants, it can be difficult to tell the three conditions apart based on their physical features. However, the conditions can be distinguished by their genetic cause and by specific patterns of signs and symptoms that develop later in childhood.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose What I need to know about Crohn's Disease ?"}, {"role": "assistant", "content": "A doctor will perform a physical exam and tests to diagnose Crohns disease. During your visit, the doctor will ask about your symptoms and medical history.\n \nThe doctor may order blood tests, which involve drawing blood at a health care providers office or commercial facility and sending the sample to a lab for analysis. Blood tests can show anemia caused by bleeding. Anemia is a condition in which red blood cells are fewer or smaller than normal, which means less oxygen is carried to the bodys cells. Blood tests can also show a high white blood cell count, a sign of chronic inflammation.\n \n\n \nYou may also be asked for a stool sample. A stool test is commonly used to rule out other causes of GI diseases, such as infections. The doctor will give you a container for catching and storing the stool. The sample is returned to the doctor or a commercial facility and sent to a lab for analysis. A stool sample can also be used to check if you have bleeding or inflammation.\n \nOther tests may be needed to diagnose Crohn's disease. The following tests are all performed at a hospital or outpatient center.\n \n- Colonoscopy. Colonoscopy is the most commonly used test to specifically diagnose Crohns disease. This test is used to look inside your rectum, entire colon, and ileum. The health care provider will give you written bowel prep instructions to follow at home before the test. You may need to follow a clear liquid diet for 1 to 3 days before the test. You will need to take laxatives and enemas the evening before the test, and you will likely have one or more enemas about 2 hours before the test. A laxative is medicine that loosens stool and increases bowel movements. An enema involves flushing water, laxative, or sometimes a mild soap solution into the anus using a special squirt bottle. For the test, you will lie on a table while the doctor inserts a flexible tube into your anus. A small camera on the tube sends a video image of the intestinal lining to a computer screen. The doctor can see inflammation, ulcers, or bleeding. The doctor may also perform a biopsy. The doctor will look at the tissue with a microscope to confirm the diagnosis of Crohns disease. In most cases, youll be given a light sedative, and possibly pain medicine, to help you relax. You will not feel the biopsy. Cramping or bloating may occur during the first hour after the test. Driving is not permitted for 24 hours after the test to allow the sedative time to wear off. Before the appointment, you should make plans for a ride home. By the next day, you should fully recover and go back to your normal diet. - Flexible sigmoidoscopy. This test is used to look inside the rectum and lower colon. The health care provider will give you written bowel prep instructions to follow at home before the test. You may need to follow a clear liquid diet for 1 to 3 days before the test. You may also need a laxative or enema the night before the test. And youll have one or more enemas about 2 hours before the procedure. For the test, you will lie on a table while the doctor inserts a flexible tube into your anus. You will not need a sedative for the test. A small camera on the tube sends a video image of the intestinal lining to a computer screen. The doctor can see inflammation, ulcers, or bleeding. The doctor may also perform a biopsy by snipping a bit of tissue from the intestinal lining. The doctor will look at the tissue with a microscope to confirm the diagnosis of Crohns disease. You will not feel the biopsy. You can usually go back to your normal diet after the test, though you may have cramping or bloating during the first hour after the test. - Computerized tomography (CT) scan. A CT scan uses x rays and computers to create images of the inside of the body. For the test, you will lie on a table that slides into a tunnel-shaped device where the x rays are taken. The technician may give you a solution to drink and an injection of a special dye through a needle inserted into an arm vein. You will not need a sedative for the test. CT scans can be used to help diagnose Crohn's disease. - Upper GI series (x rays). An upper GI series may be done to look at the small intestine. No eating or drinking is allowed for 8 hours before the procedure. You will not need a sedative for the test. During the procedure, you will stand or sit in front of an x-ray machine and drink barium, a chalky liquid. The barium coats the small intestine, making signs of the disease show up more clearly on x rays. After the test, you may go back to your normal diet, though you may have nausea or bloating for a short time. Traces of barium in the GI tract cause stools to be white or light colored for a few days after the test. - Lower GI series (x rays). A lower GI series may be done to look at the large intestine. The health care provider will give you written bowel prep instructions to follow at home before the test. You will be asked to follow a clear liquid diet for 1 to 3 days before the test. A laxative or enema is usually used the evening before a lower GI series. Enemas are sometimes repeated the morning of the test. For the test, you will lie on a table while the doctor inserts a flexible tube into your anus. You will not need a sedative for the test. The large intestine is filled with barium, making signs of the disease show up more clearly on x rays. After the test, you may go back to your normal diet, though you may have bloating. You also may have some soreness of the anus. Traces of barium in the GI tract cause stools to be white or light colored for a few days after the test.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for steatocystoma multiplex ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of steatocystoma multiplex: - Genetic Testing Registry: Steatocystoma multiplex These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Nodular nonsuppurative panniculitis ?"}, {"role": "assistant", "content": "How might nodular nonsuppurative panniculitis be treated? Treatment for nodular nonsuppurative panniculitis (NNP) generally aims at controlling and relieving the symptoms that an individual has. Before treatment is initiated, a work-up should be completed to determine whether the condition is secondary to another underlying disorder. If there is an underlying disorder, treatment of this disorder may relieve the symptoms of NNP. In some cases, skin lesions heal spontaneously (remission) but the lesions often later return. There is no treatment method found to be effective for all individuals with NNP. Medications used to treat the condition may include systemic steroids (such as prednisone) to suppress sudden attacks; nonsteroidal anti-inflammatory drugs (NSAIDs) to reduce fever and other signs of malaise; and/or immunosuppressive drugs. Relief of symptoms in some affected individuals has also been reported with fibrinolytic agents (medications that help prevent blood clots), hydroxychloroquine, azathioprine, thalidomide, cyclophosphamide, tetracycline, cyclosporin, mycophenolate, and clofazimine. More detailed information about the management of nodular nonsuppurative panniculitis is available on the Treatment and Medication sections of the Medscape Reference Web site.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Jacobsen syndrome ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of Jacobsen syndrome: - 11q Research & Resource Group: Concerns and Recommendations - Genetic Testing Registry: 11q partial monosomy syndrome - Unique: Chromosome 11q Deletion Disorder: Jacobsen Syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Short Bowel Syndrome ?"}, {"role": "assistant", "content": "People who have any signs or symptoms of severe dehydration should call or see a health care provider right away:\n \n- excessive thirst - dark-colored urine - infrequent urination - lethargy, dizziness, or faintness - dry skin\n \nInfants and children are most likely to become dehydrated. Parents or caretakers should watch for the following signs and symptoms of dehydration:\n \n- dry mouth and tongue - lack of tears when crying - infants with no wet diapers for 3 hours or more - infants with a sunken soft spot - unusually cranky or drowsy behavior - sunken eyes or cheeks - fever\n \nIf left untreated, severe dehydration can cause serious health problems:\n \n- organ damage - shockwhen low blood pressure prevents blood and oxygen from getting to organs - comaa sleeplike state in which a person is not conscious", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Paget's Disease of Bone ?"}, {"role": "assistant", "content": "Yes. Some complications from Paget's disease respond well to surgery. Joint replacement may be helpful in people with severe arthritis of the hip or knee. Surgery can also realign affected leg bones to reduce pain or help broken bones heal in a better position.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Glaucoma ?"}, {"role": "assistant", "content": "Open-angle glaucoma is the most common form of glaucoma. In the normal eye, the clear fluid leaves the anterior chamber at the open angle where the cornea and iris meet. When the fluid reaches the angle, it flows through a spongy meshwork, like a drain, and leaves the eye. Sometimes, when the fluid reaches the angle, it passes too slowly through the meshwork drain, causing the pressure inside the eye to build. If the pressure damages the optic nerve, open-angle glaucoma -- and vision loss -- may result.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Muscle eye brain disease ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Muscle eye brain disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Muscle eye brain disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% EEG abnormality 90% EMG abnormality 90% Gait disturbance 90% Glaucoma 90% Hydrocephalus 90% Myopathy 90% Myopia 90% Neurological speech impairment 90% Optic atrophy 90% Strabismus 90% Visual impairment 90% Abnormality of the voice 50% Cataract 50% Hypertonia 50% Muscular hypotonia 50% Seizures 50% Aplasia/Hypoplasia of the cerebellum 7.5% Hemiplegia/hemiparesis 7.5% Holoprosencephaly 7.5% Meningocele 7.5% Autosomal recessive inheritance - Buphthalmos - Cerebellar cyst - Cerebellar dysplasia - Cerebellar hypoplasia - Coloboma - Congenital myopia - Congenital onset - Decreased light- and dark-adapted electroretinogram amplitude - Elevated serum creatine phosphokinase - Enlarged flash visual evoked potentials - Generalized hypotonia - Generalized muscle weakness - Heterogeneous - Hypoplasia of midface - Hypoplasia of the brainstem - Hypoplasia of the retina - Intellectual disability, profound - Intellectual disability, severe - Malar flattening - Megalocornea - Microcephaly - Microphthalmia - Muscle weakness - Muscular dystrophy - Myoclonus - Nystagmus - Opacification of the corneal stroma - Pachygyria - Pallor - Phenotypic variability - Polymicrogyria - Retinal atrophy - Retinal dysplasia - Severe global developmental delay - Severe muscular hypotonia - Short nasal bridge - Spasticity - Type II lissencephaly - Uncontrolled eye movements - Undetectable electroretinogram - Ventriculomegaly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for CASK-related intellectual disability ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of CASK-related intellectual disability: - Gene Review: Gene Review: CASK-Related Disorders - Genetic Testing Registry: Mental retardation and microcephaly with pontine and cerebellar hypoplasia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Wiskott-Aldrich syndrome ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of Wiskott-Aldrich syndrome: - Gene Review: Gene Review: WAS-Related Disorders - Genetic Testing Registry: Wiskott-Aldrich syndrome - MedlinePlus Encyclopedia: Thrombocytopenia - National Marrow Donor Program - Rare Disease Clinical Research Network: Primary Immune Deficiency Treatment Consortium These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Mitochondrial genetic disorders ?"}, {"role": "assistant", "content": "How are mitochondrial genetic disorders diagnosed? Unfortunately, mitochondrial genetic disorders can be difficult to diagnose, and many affected people may never receive a specific diagnosis. They are often suspected in people who have a condition that effects multiple, unrelated systems of the body. In some cases, the pattern of symptoms may be suggestive of a specific mitochondrial condition. If the disease-causing gene(s) associated with the particular condition is known, the diagnosis can then be confirmed with genetic testing. If a mitochondrial genetic disorder is suspected but the signs and symptoms do not suggest a specific diagnosis, a more extensive work-up may be required. In these cases, a physician may start by evaluating the levels of certain substances in a sample of blood or cerebrospinal fluid. Other tests that can support a diagnosis include: Exercise testing Magnetic resonance spectroscopy (detects abnormalities in the brain's chemical makeup) Imaging studies of the brain such as MRI or CT scan Electroencephalography (EEG) Tests that evaluate the heart including electrocardiography and echocardiography Muscle biopsy When possible, confirming a diagnosis with genetic testing can have important implications for family members. Identifying the disease-causing gene(s) will give the family information about the inheritance pattern and the risk to other family members. It will also allow other at-risk family members to undergo genetic testing. For more information regarding the diagnosis of mitochondrial genetic disorders, please visit the United Mitochondrial Disease Foundation's \"Getting a Diagnosis\" Web page. GeneReviews also provides information on establishing a diagnosis of a mitochondrial disorder. Click on the link to view the article on this topic.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Geographic tongue ?"}, {"role": "assistant", "content": "What treatment is available for geographic tongue? Because geographic tongue is a benign (harmless) condition and does not typically cause symptoms, treatment is usually unnecessary. Even those patients who experience sensitivity to hot or spicy foods, generally do not require treatment. With severe symptoms, topical corticosteroids, zinc supplements, and topical anesthetic rinses seem to reduce the discomfort in some patients.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Cramp-fasciculation syndrome ?"}, {"role": "assistant", "content": "How is cramp-fasciculation syndrome diagnosed? A diagnosis of cramp-fasciculation syndrome is generally based on the presence of characteristic signs and symptoms. Namely, a history of frequent muscle cramps, twitching, and pain (often worsened by exercise) without muscle weakness or wasting is suggestive of the condition. It is also important to rule out other conditions that may cause similar features. Electromyography (EMG) or repetitive nerve stimulation studies may also be done to assess the health of muscles and the nerves that control them. In repetitive nerve stimulation studies, muscle responses are recorded when the nerves are repetitively stimulated by small pulses of electricity.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Lymphocytic infiltrate of Jessner ?"}, {"role": "assistant", "content": "How might lymphocytic infiltrate of Jessner be treated? Lymphocytic infiltrate of Jessner may require no treatment (since it can resolve spontaneously), but some patients benefit from cosmetic camouflage, photoprotection, excision of small lesions, topical steroids, intralesional steroids, oral hydroxychloroquine, systemic steroids, cryotherapy, methotrexate, thalidomide, and/or oral auranofin. There has been one case report describing treatment with a pulsed-dye laser that worked effectively in this patient after a single treatment without adverse side effects. This and further information on treatment of lymphocytic infiltrate of Jessner is available at the following link to the eMedicine online reference Web site: http://emedicine.medscape.com/article/1098654-treatment", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Fanconi Anemia ?"}, {"role": "assistant", "content": "Fanconi anemia (fan-KO-nee uh-NEE-me-uh), or FA, is a rare, inherited blood disorder that leads to bone marrow failure. The disorder also is called Fanconis anemia.\n \nFA prevents your bone marrow from making enough new blood cells for your body to work normally. FA also can cause your bone marrow to make many faulty blood cells. This can lead to serious health problems, such as leukemia (a type of blood cancer).\n \nAlthough FA is a blood disorder, it also can affect many of your body's organs, tissues, and systems. Children who inherit FA are at higher risk of being born with birth defects. FA also increases the risk of some cancers and other serious health problems.\n \nFA is different from Fanconi syndrome. Fanconi syndrome affects the kidneys. It's a rare and serious condition that mostly affects children.\n \nChildren who have Fanconi syndrome pass large amounts of key nutrients and chemicals through their urine. These children may have serious health and developmental problems.\n \nBone Marrow and Blood\n \nBone marrow is the spongy tissue inside the large bones of your body. Healthy bone marrow contains stem cells that develop into the three types of blood cells that the body needs:\n \nRed blood cells, which carry oxygen to all parts of your body. Red blood cells also remove carbon dioxide (a waste product) from your body's cells and carry it to the lungs to be exhaled.\n \nWhite blood cells, which help fight infections.\n \nPlatelets (PLATE-lets), which help your blood clot.\n \nIt's normal for blood cells to die. The lifespan of red blood cells is about 120 days. White blood cells live less than 1 day. Platelets live about 6 days. As a result, your bone marrow must constantly make new blood cells.\n \nIf your bone marrow can't make enough new blood cells to replace the ones that die, serious health problems can occur.\n \nFanconi Anemia and Your Body\n \nFA is one of many types of anemia. The term \"anemia\" usually refers to a condition in which the blood has a lower than normal number of red blood cells.\n \nFA is a type of aplastic anemia. In aplastic anemia, the bone marrow stops making or doesn't make enough of all three types of blood cells. Low levels of the three types of blood cells can harm many of the body's organs, tissues, and systems.\n \nWith too few red blood cells, your body's tissues won't get enough oxygen to work well. With too few white blood cells, your body may have problems fighting infections. This can make you sick more often and make infections worse. With too few platelets, your blood cant clot normally. As a result, you may have bleeding problems.\n \nOutlook\n \nPeople who have FA have a greater risk than other people for some cancers. About 10percent of people who have FA develop leukemia.\n \nPeople who have FA and survive to adulthood are much more likely than others to develop cancerous solid tumors.\n \nThe risk of solid tumors increases with age in people who have FA. These tumors can develop in the mouth, tongue, throat, or esophagus (eh-SOF-ah-gus). (The esophagus is the passage leading from the mouth to the stomach.)\n \nWomen who have FA are at much greater risk than other women of developing tumors in the reproductive organs.\n \nFA is an unpredictable disease. The average lifespan for people who have FA is between 20 and 30 years. The most common causes of death related to FA are bone marrow failure, leukemia, and solid tumors.\n \nAdvances in care and treatment have improved the chances of surviving longer with FA. Blood and marrow stem cell transplant is the major advance in treatment. However, even with this treatment, the risk of some cancers is greater in people who have FA.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Sturge-Weber syndrome ?"}, {"role": "assistant", "content": "Sturge-Weber syndrome is a rare disorder that is present at birth. Affected individuals have a large port-wine stain birthmark on their face, which is caused by blood vessel abnormalities. People with Sturge-Weber syndrome also develop blood vessel abnormalities in the brain called leptomeningeal angiomas. Other features of this syndrome include glaucoma, seizures, muscle weakness, paralysis, developmental delay, and intellectual disability. Sturge-Weber syndrome is caused by a mutation in the GNAQ gene. The gene mutation is not inherited, but occurs by chance in cells of the developing embryo.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by adolescent idiopathic scoliosis ?"}, {"role": "assistant", "content": "Adolescent idiopathic scoliosis is the most common spinal abnormality in children. It affects an estimated 2 to 3 percent of children in the U.S.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Niemann-Pick Disease ?"}, {"role": "assistant", "content": "Niemann-Pick disease (NP) refers to a group of inherited metabolic disorders known as lipid storage diseases. Lipids (fatty materials such as waxes, fatty acids, oils, and cholesterol) and proteins are usually broken down into smaller components to provide energy for the body. In Niemann-Pick disease, harmful quantities of lipids accumulate in the brain, spleen, liver, lungs, and bone marrow. Neurological symptoms may include ataxia (lack of muscle control during voluntary movements such as walking), loss of muscle tone, brain degeneration, increased sensitivity to touch, spasticity (stiff muscles and awkward movement), and slurred speech. Other symptoms may include feeding and swallowing difficulties, eye paralysis, learning problems, and an enlarged liver and spleen. There may be clouding of the cornea and a characteristic cherry-red halo develops around the center of the retina. The disease has three categories. Type A, the most severe form, occurs in early infancy and is seen primarily in Jewish families. It is characterized by progressive weakness, an enlarged liver and spleen, swollen lymph nodes, and profound brain damage by six months of age. Children with this type rarely live beyond 18 months. Type B usually occurs in the pre-teen years, with symptoms that include ataxia and peripheral neuropathy. The brain is generally not affected. Other symptoms include enlarged liver and spleen, and pulmonary difficulties. In types A and B, insufficient activity of an enzyme called sphingomyelinase causes the build up of toxic amounts of sphingomyelin, a fatty substance present in every cell of the body. Type C may appear early in life or develop in the teen or adult years. It is caused by a lack of the NPC1 or NPC2 proteins. Affected individuals may have extensive brain damage that can cause an inability to look up and down, difficulty in walking and swallowing, and progressive loss of vision and hearing. There may be moderate enlargement of the spleen and liver. Individuals wit Type C who share a common ancestral background in Nova Scotia were previously referred to as Type D.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Locked-In Syndrome ?"}, {"role": "assistant", "content": "There is no cure for locked-in syndrome, nor is there a standard course of treatment. A therapy called functional neuromuscular stimulation, which uses electrodes to stimulate muscle reflexes, may help activate some paralyzed muscles. Several devices to help communication are available. Other treatment is symptomatic and supportive.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is the outlook for Uterine Sarcoma ?"}, {"role": "assistant", "content": "Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - The stage of the cancer. - The type and size of the tumor. - The patient's general health. - Whether the cancer has just been diagnosed or has recurred (come back).", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Paget's Disease of Bone ?"}, {"role": "assistant", "content": "Paget's disease is almost always diagnosed by x-ray, although it may be discovered using one of two other tests: an alkaline phosphatase blood test or a bone scan. Paget's disease is often found by accident when a person undergoes one of these tests for another reason. In other cases, a person experiences problems that lead his or her physician to order these tests. If Paget's disease is first suggested by an alkaline phosphatase blood test or bone scan, the physician usually orders an x-ray to verify the diagnosis. A bone scan is typically used to identify all the bones in the skeleton that are affected by the disease.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "what research (or clinical trials) is being done for Neurological Complications of AIDS ?"}, {"role": "assistant", "content": "Within the Federal government, the National Institute of Neurological Disorders and Stroke (NINDS), one part of the National Institutes of Health (NIH), supports research on the neurological consequences of AIDS. The NINDS works closely with its sister agency, the National Institute of Allergy and Infectious Diseases (NIAID), which has primary responsibility for research related to HIV and AIDS.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to tyrosine hydroxylase deficiency ?"}, {"role": "assistant", "content": "Mutations in the TH gene cause TH deficiency. The TH gene provides instructions for making the enzyme tyrosine hydroxylase, which is important for normal functioning of the nervous system. Tyrosine hydroxylase takes part in the pathway that produces a group of chemical messengers (hormones) called catecholamines. Tyrosine hydroxylase helps convert the protein building block (amino acid) tyrosine to a catecholamine called dopamine. Dopamine transmits signals to help the brain control physical movement and emotional behavior. Other catecholamines called norepinephrine and epinephrine are produced from dopamine. Norepinephrine and epinephrine are involved in the autonomic nervous system. Mutations in the TH gene result in reduced activity of the tyrosine hydroxylase enzyme. As a result, the body produces less dopamine, norepinephrine and epinephrine. These catecholamines are necessary for normal nervous system function, and changes in their levels contribute to the abnormal movements, autonomic dysfunction, and other neurological problems seen in people with TH deficiency.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Adrenal Insufficiency and Addison's Disease ?"}, {"role": "assistant", "content": "Autoimmune disorders cause most cases of Addisons disease. Infections and medications may also cause the disease.\n \nAutoimmune Disorders\n \nUp to 80 percent of Addisons disease cases are caused by an autoimmune disorder, which is when the bodys immune system attacks the bodys own cells and organs.2 In autoimmune Addisons, which mainly occurs in middle-aged females, the immune system gradually destroys the adrenal cortexthe outer layer of the adrenal glands.2\n \nPrimary adrenal insufficiency occurs when at least 90 percent of the adrenal cortex has been destroyed.1 As a result, both cortisol and aldosterone are often lacking. Sometimes only the adrenal glands are affected. Sometimes other endocrine glands are affected as well, as in polyendocrine deficiency syndrome.\n \nPolyendocrine deficiency syndrome is classified into type 1 and type 2. Type 1 is inherited and occurs in children. In addition to adrenal insufficiency, these children may have\n \n- underactive parathyroid glands, which are four pea-sized glands located on or near the thyroid gland in the neck; they produce a hormone that helps maintain the correct balance of calcium in the body. - slow sexual development. - pernicious anemia, a severe type of anemia; anemia is a condition in which red blood cells are fewer than normal, which means less oxygen is carried to the bodys cells. With most types of anemia, red blood cells are smaller than normal; however, in pernicious anemia, the cells are bigger than normal. - chronic fungal infections. - chronic hepatitis, a liver disease.\n \nResearchers think type 2, which is sometimes called Schmidts syndrome, is also inherited. Type 2 usually affects young adults and may include\n \n- an underactive thyroid gland, which produces hormones that regulate metabolism - slow sexual development - diabetes, in which a person has high blood glucose, also called high blood sugar or hyperglycemia - vitiligo, a loss of pigment on areas of the skin\n \nInfections\n \nTuberculosis (TB), an infection that can destroy the adrenal glands, accounts for 10 to 15 percent of Addisons disease cases in developed countries.1 When primary adrenal insufficiency was first identified by Dr. Thomas Addison in 1849, TB was the most common cause of the disease. As TB treatment improved, the incidence of Addisons disease due to TB of the adrenal glands greatly decreased. However, recent reports show an increase in Addisons disease from infections such as TB and cytomegalovirus. Cytomegalovirus is a common virus that does not cause symptoms in healthy people; however, it does affect babies in the womb and people who have a weakened immune systemmostly due to HIV/AIDS.2 Other bacterial infections, such as Neisseria meningitidis, which is a cause of meningitis, and fungal infections can also lead to Addisons disease.\n \nOther Causes\n \nLess common causes of Addisons disease are\n \n- cancer cells in the adrenal glands - amyloidosis, a serious, though rare, group of diseases that occurs when abnormal proteins, called amyloids, build up in the blood and are deposited in tissues and organs - surgical removal of the adrenal glands - bleeding into the adrenal glands - genetic defects including abnormal adrenal gland development, an inability of the adrenal glands to respond to ACTH, or a defect in adrenal hormone production - medication-related causes, such as from anti-fungal medications and the anesthetic etomidate, which may be used when a person undergoes an emergency intubationthe placement of a flexible, plastic tube through the mouth and into the trachea, or windpipe, to assist with breathing\n \n\n \n2", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for tumor necrosis factor receptor-associated periodic syndrome ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of TRAPS: - Genetic Testing Registry: TNF receptor-associated periodic fever syndrome (TRAPS) - University College London: National Amyloidosis Center (UK) These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Heart Failure ?"}, {"role": "assistant", "content": "The most common signs and symptoms of heart failure are:\n \nShortness of breath or trouble breathing\n \nFatigue (tiredness)\n \nSwelling in the ankles, feet, legs, abdomen, and veins in the neck\n \nAll of these symptoms are the result of fluid buildup in your body. When symptoms start, you may feel tired and short of breath after routine physical effort, like climbing stairs.\n \nAs your heart grows weaker, symptoms get worse. You may begin to feel tired and short of breath after getting dressed or walking across the room. Some people have shortness of breath while lying flat.\n \nFluid buildup from heart failure also causes weight gain, frequent urination, and a cough that's worse at night and when you're lying down. This cough may be a sign of acute pulmonary edema (e-DE-ma). This is a condition in which too much fluid builds up in your lungs. The condition requires emergency treatment.\n \nHeart Failure Signs and Symptoms", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to neuropathy, ataxia, and retinitis pigmentosa ?"}, {"role": "assistant", "content": "NARP results from mutations in the MT-ATP6 gene. This gene is contained in mitochondrial DNA, also known as mtDNA. Mitochondria are structures within cells that convert the energy from food into a form that cells can use. Although most DNA is packaged in chromosomes within the nucleus, mitochondria also have a small amount of their own DNA. The MT-ATP6 gene provides instructions for making a protein that is essential for normal mitochondrial function. Through a series of chemical reactions, mitochondria use oxygen and simple sugars to create adenosine triphosphate (ATP), the cell's main energy source. The MT-ATP6 protein forms one part (subunit) of an enzyme called ATP synthase, which is responsible for the last step in ATP production. Mutations in the MT-ATP6 gene alter the structure or function of ATP synthase, reducing the ability of mitochondria to make ATP. It remains unclear how this disruption in mitochondrial energy production leads to muscle weakness, vision loss, and the other specific features of NARP.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Lung Cancer ?"}, {"role": "assistant", "content": "The choice of treatment depends on the type of lung cancer, whether it is non-small or small cell lung cancer, the size, location, the stage of the cancer, and the patient's general health. Doctors may suggest many different treatments or combinations of treatments to control the cancer and/or improve the patient's quality of life. What Standard Treatments Do Here are some of the most common treatments for lung cancer. - Surgery is an operation to remove the cancer. Depending on the location of the tumor, the surgeon may remove a small part of the lung, a lobe of the lung, or the entire lung and possibly even part of the ribcage to get to the lung. - Chemotherapy uses anti-cancer drugs to kill cancer cells throughout the body. Doctors use chemotherapy to control cancer growth and relieve symptoms. Anti-cancer drugs are given by injection; through a catheter, a long thin tube temporarily placed in a large vein; or in pill form. - Targeted therapy is a type of treatment that uses drugs or other substances to attack specific cancer cells. - Radiation therapy uses high-energy beams to kill cancer cells and shrink tumors. An external machine delivers radiation to a limited area, affecting cancer cells only in that area. Doctors may use radiation before surgery to shrink a tumor or after surgery to destroy any cancer cells remaining in the treated area. Surgery is an operation to remove the cancer. Depending on the location of the tumor, the surgeon may remove a small part of the lung, a lobe of the lung, or the entire lung and possibly even part of the ribcage to get to the lung. Chemotherapy uses anti-cancer drugs to kill cancer cells throughout the body. Doctors use chemotherapy to control cancer growth and relieve symptoms. Anti-cancer drugs are given by injection; through a catheter, a long thin tube temporarily placed in a large vein; or in pill form. Targeted therapy is a type of treatment that uses drugs or other substances to attack specific cancer cells. Radiation therapy uses high-energy beams to kill cancer cells and shrink tumors. An external machine delivers radiation to a limited area, affecting cancer cells only in that area. Doctors may use radiation before surgery to shrink a tumor or after surgery to destroy any cancer cells remaining in the treated area. Treating Non-Small Cell Lung Cancer Doctors treat patients with non-small cell lung cancer in several ways, and surgery is a common treatment. Cryosurgery, a treatment that freezes and destroys cancer tissue, may be used to control symptoms in the later stages of non-small cell lung cancer. Doctors may also use radiation therapy and chemotherapy to slow the progress of the disease and to manage symptoms. See more information about treatments for non-small cell lung cancer. Treating Small Cell Lung Cancer Small cell lung cancer spreads quickly. In many cases, cancer cells have already spread to other parts of the body when the disease is diagnosed. In order to reach cancer cells throughout the body, doctors almost always use chemotherapy. Treatment for small cell lung cancer may also include radiation therapy aimed at the tumor in the lung or tumors in other parts of the body, such as in the brain. Surgery is part of the treatment plan for a small number of patients with small cell lung cancer. Some patients with small cell lung cancer have radiation therapy to the brain even though no cancer is found there. This treatment, called prophylactic cranial irradiation or PCI, is given to prevent tumors from forming in the brain. See more information about treatments for small cell lung cancer.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is SOST-related sclerosing bone dysplasia inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Adrenoleukodystrophy ?"}, {"role": "assistant", "content": "X-linked Adrenoleukodystrophy (ALD) is one of a group of genetic disorders called the leukodystrophies that cause damage to the myelin sheath, an insulating membrane that surrounds nerve cells in the brain. Women have two X chromosomes and are the carriers of the disease, but since men only have one X chromosome and lack the protective effect of the extra X chromosome, they are more severely affected. People with X-ALD accumulate high levels of saturated, very long chain fatty acids (VLCFA) in the brain and adrenal cortex. The loss of myelin and the progressive dysfunction of the adrenal gland are the primary characteristics of X-ALD. While nearly all patients with X-ALD suffer from adrenal insufficiency, also known as Addison's disease, the neurological symptoms can begin either in childhood or in adulthood. The childhood cerebral form is the most severe, with onset between ages 4 and 10. The most common symptoms are usually behavioral changes such as abnormal withdrawal or aggression, poor memory, and poor school performance. Other symptoms include visual loss, learning disabilities, seizures, poorly articulated speech, difficulty swallowing, deafness, disturbances of gait and coordination, fatigue, intermittent vomiting, increased skin pigmentation, and progressive dementia. The milder adult-onset form is also known as adrenomyeloneuropathy (AMN), which typically begins between ages 21 and 35. Symptoms may include progressive stiffness, weakness or paralysis of the lower limbs, and ataxia. Although adult-onset ALD progresses more slowly than the classic childhood form, it can also result in deterioration of brain function. Almost half the women who are carriers of X-ALS will develop a milder form of AMN but almost never will develop symptoms seen in boys the X-ALD. X-ALD should not be confused with neonatal adrenoleukodsystrophy, which is a disease of newborns and young infants and belongs to the group of peroxisomal biogenesis disorders.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to inherited thyroxine-binding globulin deficiency ?"}, {"role": "assistant", "content": "Inherited thyroxine-binding globulin deficiency results from mutations in the SERPINA7 gene. This gene provides instructions for making thyroxine-binding globulin. Some mutations in the SERPINA7 gene prevent the production of a functional protein, causing TBG-CD. Other mutations reduce the amount of this protein or alter its structure, resulting in TBG-PD. Researchers have also described non-inherited forms of thyroxine-binding globulin deficiency, which are more common than the inherited form. Non-inherited thyroxine-binding globulin deficiency can occur with a variety of illnesses and is a side effect of some medications.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Cockayne syndrome ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of Cockayne syndrome: - Gene Review: Gene Review: Cockayne Syndrome - Genetic Testing Registry: Cockayne syndrome - Genetic Testing Registry: Cockayne syndrome type A - Genetic Testing Registry: Cockayne syndrome type C - Genetic Testing Registry: Cockayne syndrome, type B - MedlinePlus Encyclopedia: Failure to Thrive These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Wernicke-Korsakoff Syndrome ?"}, {"role": "assistant", "content": "Treatment involves replacement of thiamine and providing proper nutrition and hydration. In some cases, drug therapy is also recommended.Stopping alcohol use may prevent further nerve and brain damage. In individuals with Wernicke's encephalopathy, it is very important to start thiamine replacement before beginning nutritional replenishment.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) polycystic kidney disease ?"}, {"role": "assistant", "content": "Polycystic kidney disease is a disorder that affects the kidneys and other organs. Clusters of fluid-filled sacs, called cysts, develop in the kidneys and interfere with their ability to filter waste products from the blood. The growth of cysts causes the kidneys to become enlarged and can lead to kidney failure. Cysts may also develop in other organs, particularly the liver. Frequent complications of polycystic kidney disease include dangerously high blood pressure (hypertension), pain in the back or sides, blood in the urine (hematuria), recurrent urinary tract infections, kidney stones, and heart valve abnormalities. Additionally, people with polycystic kidney disease have an increased risk of an abnormal bulging (an aneurysm) in a large blood vessel called the aorta or in blood vessels at the base of the brain. Aneurysms can be life-threatening if they tear or rupture. The two major forms of polycystic kidney disease are distinguished by the usual age of onset and the pattern in which it is passed through families. The autosomal dominant form (sometimes called ADPKD) has signs and symptoms that typically begin in adulthood, although cysts in the kidney are often present from birth or childhood. Autosomal dominant polycystic kidney disease can be further divided into type 1 and type 2, depending on the genetic cause. The autosomal recessive form of polycystic kidney disease (sometimes called ARPKD) is much rarer and is often lethal early in life. The signs and symptoms of this condition are usually apparent at birth or in early infancy.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of FG syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of FG syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for FG syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia of the corpus callosum 90% Behavioral abnormality 90% Broad forehead 90% Cognitive impairment 90% High forehead 90% Low-set, posteriorly rotated ears 90% Muscular hypotonia 90% Abnormality of the palate 50% Brachydactyly syndrome 50% Clinodactyly of the 5th finger 50% Cryptorchidism 50% EEG abnormality 50% Epicanthus 50% Fine hair 50% Mask-like facies 50% Open mouth 50% Seizures 50% Strabismus 50% Abnormality of the intestine 7.5% Hernia of the abdominal wall 7.5% Hypertonia 7.5% Ptosis 7.5% Single transverse palmar crease 7.5% Sensorineural hearing impairment 4/6 Feeding difficulties in infancy 5/8 Seizures 5/8 Prominent forehead 3/8 Scoliosis 2/8 Abnormal heart morphology - Abnormality of the nasopharynx - Abnormality of the sternum - Anal atresia - Anal stenosis - Anteriorly placed anus - Attention deficit hyperactivity disorder - Broad hallux - Broad thumb - Camptodactyly - Choanal atresia - Cleft palate - Cleft upper lip - Clinodactyly - Constipation - Delayed closure of the anterior fontanelle - Delayed speech and language development - Dental crowding - Facial wrinkling - Frontal bossing - Frontal upsweep of hair - Heterotopia - High pitched voice - Hydrocephalus - Hypertelorism - Hypospadias - Inguinal hernia - Intellectual disability - Intestinal malrotation - Joint contracture of the hand - Joint swelling onset late infancy - Large forehead - Long philtrum - Lumbar hyperlordosis - Microtia, first degree - Motor delay - Multiple joint contractures - Narrow palate - Neonatal hypotonia - Partial agenesis of the corpus callosum - Plagiocephaly - Postnatal macrocephaly - Prominent fingertip pads - Prominent nose - Pyloric stenosis - Radial deviation of finger - Sacral dimple - Short neck - Short stature - Skin tags - Sparse hair - Split hand - Syndactyly - Thick lower lip vermilion - Umbilical hernia - Underdeveloped superior crus of antihelix - Wide anterior fontanel - Wide mouth - Wide nasal bridge - X-linked inheritance - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is prekallikrein deficiency inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Surviving Cancer ?"}, {"role": "assistant", "content": "Follow-up cancer care involves regular medical checkups that include a review of your medical history and a physical exam. Follow-up care may include blood work and other lab tests and procedures that allow the doctor to examine or take pictures of areas inside the body. See more resources and information about follow-up care after treatment, including guidelines.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for metachromatic leukodystrophy ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of metachromatic leukodystrophy: - Gene Review: Gene Review: Arylsulfatase A Deficiency - Genetic Testing Registry: Metachromatic leukodystrophy - Genetic Testing Registry: Sphingolipid activator protein 1 deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for What I need to know about Crohn's Disease ?"}, {"role": "assistant", "content": "Treatment for Crohns disease depends on\n \n- where the disease is located in the GI tract - what problems you already have from the disease - what past treatments you have had for the disease\n \nThe goals of treatment are to\n \n- decrease the inflammation - relieve symptoms such as abdominal pain, diarrhea, and rectal bleeding - correct nutritional problems\n \nTreatment may include\n \n- medicines - surgery - eating, diet, and nutrition\n \n\n \nMedicines\n \nOne or more of the following medicines may be used to treat Crohns disease:\n \n- Anti-inflammation medicines may be used first to treat your Crohn's disease. These medicines help lower inflammation in the intestine and relieve the pain and diarrhea. Sometimes anti-inflammation medicines cause side effects, so you should talk with your health care provider about what to expect. - Steroids also help lower inflammation. Steroids are similar to natural chemicals in the body. However, steroids are used only for a short time because long-term use can lead to serious side effects. - Immune system suppressors. Azathioprine and 6-mercaptopurine work by keeping your immune system from attacking harmless foreign substances. Immune system suppressors also cause side effects, so you should talk with your health care provider about what to expect. - Biological therapies. Biological therapies are medicines that are given by an injection in the vein, infliximab (Remicade), or an injection in the skin, adalimumab (HUMIRA). Your health care provider may treat you with these medicines if others are not helping to decrease inflammation, or if you have fistulas with abscesses. The goals for using these medicines are to get you better, keep you better, and avoid long-term steroid use. - Antibiotics. Antibiotics are used to treat bacterial overgrowth in the small intestine caused by stricture, fistulas, or surgery. For this common problem, the doctor may prescribe one or more of the following antibiotics: ampicillin, sulfonamide, cephalosporin, tetracycline, or metronidazole.\n \n\n \n- Anti-diarrheal medicines and fluid replacements. Diarrhea and abdominal cramps are often relieved when the inflammation improves, but more medicine may be needed. Anti-diarrheal medicines include diphenoxylate, loperamide, and codeine. People with diarrhea should drink plenty of fluids to prevent dehydrationloss of fluids from the body. If diarrhea does not improve, the person should see the doctor promptly for possible treatment with fluids given through a small tube inserted into an arm vein.\n \nSurgery\n \nSome people with Crohns disease need surgery if medicines are no longer working to control blockage, fistulas, abscesses, and bleeding. A surgeon performs the procedure in a hospital, where you will receive medicine to make you sleep during the surgery.\n \nOne or more of the following surgeries may be needed:\n \n- Intestinal resection. The surgeon removes the diseased section of intestine and puts the ends of the intestine back together. - Proctocolectomy. Proctocolectomy is surgery to remove the rectum and part or all of the colon. An ileostomy is performed with a proctocolectomy. - Ileostomy. Ileostomy is an operation to create an openingcalled a stomafor the stool to exit the body when the ends of the intestine cannot be put back together. To create a stoma, an end of the intestine is brought out through a small opening made on the lower right part of the abdomen near the beltline. The stoma is about the size of a quarter. An ostomy pouch is worn outside the body over the stoma to collect waste, and it is emptied several times a day. Your health care provider may refer you to an ostomy nursea specialist who cares for people with an ostomy pouch.\n \nSurgery usually does not cure Crohn's disease forever. Sometimes you need to have more than one surgery because the disease returns next to where the intestine was removed. Because Crohns disease can return after surgery, you can talk with your health care provider and other patients to get as much information as possible before having surgery.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "what research (or clinical trials) is being done for Familial Periodic Paralyses ?"}, {"role": "assistant", "content": "The NINDS conducts and supports research on neuromuscular disorders such as the familial periodic paralyses. These studies are aimed at increasing knowledge about these disorders and finding ways to prevent, treat, and cure them.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "what research (or clinical trials) is being done for Prosopagnosia ?"}, {"role": "assistant", "content": "The National Institute of Neurological Disorders and Stroke (NINDS) conducts research related to prosopagnosia in its laboratories at the National Institutes of Health (NIH), and also supports additional research through grants to major medical institutions across the country. Much of this research focuses on finding better ways to prevent, treat, and ultimately cure disorders, such as prosopagnosia.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Breast Cancer ?"}, {"role": "assistant", "content": "Once breast cancer has been found, it is staged. Staging means determining how far the cancer has progressed. Through staging, the doctor can tell if the cancer has spread and, if so, to what parts of the body. More tests may be performed to help determine the stage. Knowing the stage of the disease helps the doctor plan treatment. Staging will let the doctor know - the size of the tumor and exactly where it is in the breast. - if the cancer has spread within the breast. - if cancer is present in the lymph nodes under the arm. - If cancer is present in other parts of the body. the size of the tumor and exactly where it is in the breast. if the cancer has spread within the breast. if cancer is present in the lymph nodes under the arm. If cancer is present in other parts of the body. Read more details about the stages of breast cancer.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by pulmonary alveolar microlithiasis ?"}, {"role": "assistant", "content": "Pulmonary alveolar microlithiasis is a rare disorder; its prevalence is unknown. About 600 affected individuals have been described in the medical literature, of whom about a quarter are of Turkish descent. The remainder come from populations worldwide.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by Majeed syndrome ?"}, {"role": "assistant", "content": "Majeed syndrome appears to be very rare; it has been reported in three families, all from the Middle East.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) aromatic l-amino acid decarboxylase deficiency ?"}, {"role": "assistant", "content": "Aromatic l-amino acid decarboxylase (AADC) deficiency is an inherited disorder that affects the way signals are passed between certain cells in the nervous system. Signs and symptoms of AADC deficiency generally appear in the first year of life. Affected infants may have severe developmental delay, weak muscle tone (hypotonia), muscle stiffness, difficulty moving, and involuntary writhing movements of the limbs (athetosis). They may be lacking in energy (lethargic), feed poorly, startle easily, and have sleep disturbances. People with AADC deficiency may also experience episodes called oculogyric crises that involve abnormal rotation of the eyeballs; extreme irritability and agitation; and pain, muscle spasms, and uncontrolled movements, especially of the head and neck. AADC deficiency may affect the autonomic nervous system, which controls involuntary body processes such as the regulation of blood pressure and body temperature. Resulting signs and symptoms can include droopy eyelids (ptosis), constriction of the pupils of the eyes (miosis), inappropriate or impaired sweating, nasal congestion, drooling, reduced ability to control body temperature, low blood pressure (hypotension), backflow of acidic stomach contents into the esophagus (gastroesophageal reflux), low blood sugar (hypoglycemia), fainting (syncope), and cardiac arrest. Signs and symptoms of AADC deficiency tend to worsen late in the day or when the individual is tired, and improve after sleep.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Ovarian small cell carcinoma ?"}, {"role": "assistant", "content": "Ovarian small cell carcinoma is a rare cancer that typically occurs in young women. It is an aggressive tumor that can metastasize to other parts of the body. Ovarian small cell carcinoma is associated with hypercalcemia and is usually treated with platinum or etoposide-based chemotherapy.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Neonatal progeroid syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Neonatal progeroid syndrome? The signs and symptoms of neonatal progeroid syndrome vary but may include: Subcutaneous lipoatrophy (deficiency or absence of the fat layer beneath the skin) which gives infants an aged appearance at birth Intrauterine growth restriction Failure to thrive Feeding difficulties Distinctive craniofacial features such as a triangular face; large skull with wide anterior (front) fontanelle; small, underdeveloped facial bones; natal teeth; low-set, posteriorly (towards the back) rotated ears, ectropion; and/or unusually sparse scalp hair, eyebrows, and eyelashes Thin arms and legs with disproportionately large hands and feet Small fingers and toes with underdeveloped nails Osteopenia (low bone density) Horizontal nystagmus Developmental delay Mild to severe intellectual disability The Human Phenotype Ontology provides the following list of signs and symptoms for Neonatal progeroid syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair quantity 90% Abnormality of the eyelashes 90% Abnormality of the fontanelles or cranial sutures 90% Abnormality of the hip bone 90% Aplasia/Hypoplasia of the eyebrow 90% Arachnodactyly 90% Cognitive impairment 90% Delayed skeletal maturation 90% Frontal bossing 90% Hearing impairment 90% High forehead 90% Intrauterine growth retardation 90% Laryngomalacia 90% Lipoatrophy 90% Macrocephaly 90% Narrow mouth 90% Short stature 90% Thin skin 90% Triangular face 90% Advanced eruption of teeth 50% Cerebral cortical atrophy 50% Convex nasal ridge 50% Cryptorchidism 50% Ventriculomegaly 50% Abnormality of chromosome stability 7.5% Limitation of joint mobility 7.5% Long penis 7.5% Flexion contracture 5% Hypertriglyceridemia 5% Hypospadias 5% Abnormality of cardiovascular system morphology - Absence of subcutaneous fat - Aplasia/Hypoplasia of the earlobes - Autosomal recessive inheritance - Blue sclerae - Congenital onset - Decreased subcutaneous fat - Delayed closure of the anterior fontanelle - Dysphagia - Ectropion - Entropion - Failure to thrive - Feeding difficulties - Gynecomastia - Hypertelorism - Hypoplastic ilia - Hypotrichosis - Increased serum testosterone level - Intellectual disability - Intention tremor - Large hands - Long fingers - Long foot - Long toe - Low-set ears - Malar flattening - Muscular hypotonia - Narrow nasal ridge - Natal tooth - Nystagmus - Parietal bossing - Prominent scalp veins - Recurrent respiratory infections - Short femur - Short humerus - Small nail - Sparse eyebrow - Sparse eyelashes - Sparse scalp hair - Sudanophilic leukodystrophy - Thin ribs - Truncal ataxia - Upslanted palpebral fissure - Widely patent fontanelles and sutures - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Familial renal cell carcinoma ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Familial renal cell carcinoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial renal cell carcinoma. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Renal cell carcinoma - Sporadic - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Who is at risk for Aneurysm? ?"}, {"role": "assistant", "content": "Certain factors put you at higher risk for an aortic aneurysm. These factors include:\n \nMale gender. Men are more likely than women to have aortic aneurysms.\n \nAge. The risk for abdominal aortic aneurysms increases as you get older. These aneurysms are more likely to occur in people who are aged 65 or older.\n \nSmoking. Smoking can damage and weaken the walls of the aorta.\n \nA family history of aortic aneurysms. People who have family histories of aortic aneurysms are at higher risk for the condition, and they may have aneurysms before the age of 65.\n \nA history of aneurysms in the arteries of the legs.\n \nCertain diseases and conditions that weaken the walls of the aorta. Examples include high blood pressure and atherosclerosis.\n \nHaving a bicuspid aortic valve can raise the risk of having a thoracic aortic aneurysm. A bicuspid aortic valve has two leaflets instead of the typical three.\n \nCar accidents or trauma also can injure the arteries and increase the risk for aneurysms.\n \nIf you have any of these risk factors, talk with your doctor about whether you need screening for aneurysms.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Childhood Liver Cancer ?"}, {"role": "assistant", "content": "Tests that examine the liver and the blood are used to detect (find) and diagnose childhood liver cancer and find out whether the cancer has spread. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patient's health habits and past illnesses and treatments will also be taken. - Serum tumor marker test : A procedure in which a blood sample is checked to measure the amounts of certain substances released into the blood by organs, tissues, or tumor cells in the body. Certain substances are linked to specific types of cancer when found in increased levels in the blood. These are called tumor markers. The blood of children who have liver cancer may have increased amounts of a hormone called beta-human chorionic gonadotropin (-hCG) or a protein called alpha-fetoprotein (AFP). Other cancers and certain noncancer conditions, including cirrhosis and hepatitis, can also increase AFP levels. - Complete blood count (CBC): A procedure in which a sample of blood is drawn and checked for the following: - The number of red blood cells, white blood cells, and platelets. - The amount of hemoglobin (the protein that carries oxygen) in the red blood cells. - The portion of the blood sample made up of red blood cells. - Liver function tests : A procedure in which a blood sample is checked to measure the amounts of certain substances released into the blood by the liver. A higher than normal amount of a substance can be a sign of liver damage or cancer. - Blood chemistry studies : A procedure in which a blood sample is checked to measure the amounts of certain substances, such as bilirubin or lactate dehydrogenase (LDH), released into the blood by organs and tissues in the body. An unusual (higher or lower than normal) amount of a substance can be a sign of disease. - Epstein-Barr virus (EBV) test: A blood test to check for antibodies to the EBV and DNA markers of the EBV. These are found in the blood of patients who have been infected with EBV. - Hepatitis assay : A procedure in which a blood sample is checked for pieces of the hepatitis virus. - MRI (magnetic resonance imaging) with gadolinium : A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the liver. A substance called gadolinium is injected into a vein. The gadolinium collects around the cancer cells so they show up brighter in the picture. This procedure is also called nuclear magnetic resonance imaging (NMRI). - Ultrasound exam: A procedure in which high-energy sound waves (ultrasound) are bounced off internal tissues or organs and make echoes. The echoes form a picture of body tissues called a sonogram. The picture can be printed to be looked at later. In childhood liver cancer, an ultrasound exam of the abdomen to check the large blood vessels is usually done. - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. In childhood liver cancer, a CT scan of the chest and abdomen is usually done. - Abdominal x-ray : An x-ray of the organs in the abdomen. An x-ray is a type of energy beam that can go through the body onto film, making a picture of areas inside the body. - Biopsy : The removal of a sample of cells or tissues so it can be viewed under a microscope to check for signs of cancer. The sample may be taken during surgery to remove or view the tumor. A pathologist looks at the sample under a microscope to find out the type of liver cancer. The following test may be done on the sample of tissue that is removed: - Immunohistochemistry : A test that uses antibodies to check for certain antigens in a sample of tissue. The antibody is usually linked to a radioactive substance or a dye that causes the tissue to light up under a microscope. This type of test is used to check for a certain gene mutation and to tell the difference between different types of cancer.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Kawasaki Disease ?"}, {"role": "assistant", "content": "Kawasaki disease is diagnosed based on your child's signs and symptoms and the results from tests and procedures.\n \nSpecialists Involved\n \nPediatricians often are the first to suspect a child has Kawasaki disease. Pediatricians are doctors who specialize in treating children.\n \nIf the disease has affected your child's coronary (heart) arteries, a pediatric cardiologist will confirm the diagnosis and give ongoing treatment. Pediatric cardiologists treat children who have heart problems.\n \nOther specialists also may be involved in treating children who have Kawasaki disease.\n \nSigns and Symptoms\n \nThe doctor will check your child for the classic signs and symptoms of Kawasaki disease.\n \nThe doctor will rule out other diseases that cause similar symptoms. These diseases include Rocky Mountain spotted fever, scarlet fever, and juvenile rheumatoid arthritis.\n \nGenerally, your child will be diagnosed with Kawasaki disease if he or she has a fever that lasts longer than 5 days plus four other classic signs or symptoms of the disease.\n \nHowever, not all children have classic signs and symptoms of Kawasaki disease. Tests and procedures can help confirm whether a child has the disease.\n \nTests and Procedures\n \nEchocardiography\n \nIf the doctor thinks that your child has Kawasaki disease, he or she will likely recommendechocardiography(EK-o-kar-de-OG-ra-fee), or echo. This painless test uses sound waves to create pictures of the heart and coronary arteries.\n \nEcho also can help show the disease's effects over time, if any, on your child's coronary arteries. Often, the disease's effects on the coronary arteries don't show up until the second or third week after the first symptoms appear. Thus, this test is done regularly after the diagnosis.\n \nSome children who have Kawasaki disease don't have the classic signs and symptoms of the acute phase. Doctors may not diagnose these children until 2 to 3 weeks after the onset of the disease. This is when another common sign of Kawasaki disease occurspeeling of the skin on the fingers and toes.\n \nIf your child is diagnosed at this point, he or she will likely need echo right away to see whether the disease has affected the coronary arteries.\n \nOther Diagnostic Tests\n \nDoctors also use other tests to help diagnose Kawasaki disease, such as:\n \nBlood tests. The results from blood tests can show whether the body's blood vessels are inflamed.\n \nChest x ray. This painless test creates pictures of structures inside the chest, such as the heart and lungs. A chest x ray can show whether Kawasaki disease has affected the heart.\n \nEKG (electrocardiogram). This simple test detects and records the heart's electrical activity. An EKG can show whether Kawasaki disease has affected the heart.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by hyperparathyroidism-jaw tumor syndrome ?"}, {"role": "assistant", "content": "The exact prevalence of hyperparathyroidism-jaw tumor syndrome is unknown. Approximately 200 cases have been reported in the medical literature.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by renal hypouricemia ?"}, {"role": "assistant", "content": "The prevalence of renal hypouricemia is unknown; at least 150 affected individuals have been described in the scientific literature. This condition is thought to be most prevalent in Asian countries such as Japan and South Korea, although affected individuals have been found in Europe. Renal hypouricemia is likely underdiagnosed because it does not cause any symptoms in many affected individuals.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to preeclampsia ?"}, {"role": "assistant", "content": "The specific causes of preeclampsia are not well understood. In pregnancy, blood volume normally increases to support the fetus, and the mother's body must adjust to handle this extra fluid. In some women the body does not react normally to the fluid changes of pregnancy, leading to the problems with high blood pressure and urine production in the kidneys that occur in preeclampsia. The reasons for these abnormal reactions to the changes of pregnancy vary in different women and may differ depending on the stage of the pregnancy at which the condition develops. Studies suggest that preeclampsia is related to a problem with the placenta, the link between the mother's blood supply and the fetus. If there is an insufficient connection between the placenta and the arteries of the uterus, the placenta does not get enough blood. It responds by releasing a variety of substances, including molecules that affect the lining of blood vessels (the vascular endothelium). By mechanisms that are unclear, the reaction of the vascular endothelium appears to increase factors that cause the blood vessels to narrow (constrict), and decrease factors that would cause them to widen (dilate). As a result, the blood vessels constrict abnormally, causing hypertension. These blood vessel abnormalities also affect the kidneys, causing some proteins that are normally absorbed into the blood to be released in the urine instead. Researchers are studying whether variations in genes involved in fluid balance, the functioning of the vascular endothelium, or placental development affect the risk of developing preeclampsia. Many other factors likely also contribute to the risk of developing this complex disorder. These risk factors include a first pregnancy; a pregnancy with twins or higher multiples; obesity; being older than 35 or younger than 20; a history of diabetes, hypertension, or kidney disease; and preeclampsia in a previous pregnancy. Socioeconomic status and ethnicity have also been associated with preeclampsia risk. The incidence of preeclampsia in the United States has increased by 30 percent in recent years, which has been attributed in part to an increase in older mothers and multiple births resulting from the use of assisted reproductive technologies.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Urinary Incontinence in Children ?"}, {"role": "assistant", "content": "Daytime UI can be caused by a UTI or structural problems in the urinary tract. Daytime UI that is not associated with UTI or structural problems is less common and tends to disappear much earlier than nighttime UI. Overactive bladder and infrequent or incomplete voiding, or urination, are common causes of daytime UI.\n \nOveractive Bladder\n \nOveractive bladder is a condition in which a child experiences at least two of the following conditions:\n \n- urinary urgencyinability to delay urination - urge urinary incontinenceurinary leakage when the bladder contracts unexpectedly - urinary frequencyurination eight or more times a day or more than twice at night\n \nInfrequent or Incomplete Voiding\n \nInfrequent voiding is when children voluntarily hold urine for prolonged periods of time. For example, children may not want to use the toilets at school or may not want to interrupt enjoyable activities, so they ignore the bodys signal of a full bladder. In these cases, the bladder can overfill and leak urine. In addition, these children often develop UTIs, leading to an irritated or overactive bladder.\n \nFactors that may combine with infrequent voiding to produce daytime UI include\n \n- small bladder capacity - structural problems - anxiety-causing events - pressure from constipation - drinks or foods that contain caffeine\n \nSometimes, overly demanding toilet training may make children unable to relax the sphincters enough to completely empty the bladder. Incomplete voiding may also lead to UTIs.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to prevent Medullary Sponge Kidney ?"}, {"role": "assistant", "content": "Scientists have not yet found a way to prevent medullary sponge kidney. However, health care providers can recommend medications and dietary changes to prevent future UTIs and kidney stones.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to abdominal wall defect ?"}, {"role": "assistant", "content": "No genetic mutations are known to cause an abdominal wall defect. Multiple genetic and environmental factors likely influence the development of this disorder. Omphalocele and gastroschisis are caused by different errors in fetal development. Omphalocele occurs during an error in digestive tract development. During the formation of the abdominal cavity in the sixth to tenth weeks of fetal development, the intestines normally protrude into the umbilical cord but recede back into the abdomen as development continues. Omphalocele occurs when the intestines do not recede back into the abdomen, but remain in the umbilical cord. Other abdominal organs can also protrude through this opening, resulting in the varied organ involvement that occurs in omphalocele. The error that leads to gastroschisis formation is unknown. It is thought to be either a disruption in the blood flow to the digestive tract or a lack of development or injury to gastrointestinal tissue early in fetal development. For reasons that are unknown, women under the age of 20 are at the greatest risk of having a baby with gastroschisis. Other risk factors in pregnancy may include taking medications that constrict the blood vessels (called vasoconstrictive drugs) or smoking, although these risk factors have not been confirmed.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Nasopharyngeal Cancer ?"}, {"role": "assistant", "content": "Key Points\n - Nasopharyngeal cancer is a disease in which malignant (cancer) cells form in the tissues of the nasopharynx. - Ethnic background and being exposed to the Epstein-Barr virus can affect the risk of nasopharyngeal cancer. - Signs of nasopharyngeal cancer include trouble breathing, speaking, or hearing. - Tests that examine the nose and throat are used to detect (find) and diagnose nasopharyngeal cancer. - Certain factors affect prognosis (chance of recovery) and treatment options.\n \n \n Nasopharyngeal cancer is a disease in which malignant (cancer) cells form in the tissues of the nasopharynx.\n The nasopharynx is the upper part of the pharynx (throat) behind the nose. The pharynx is a hollow tube about 5 inches long that starts behind the nose and ends at the top of the trachea (windpipe) and esophagus (the tube that goes from the throat to the stomach). Air and food pass through the pharynx on the way to the trachea or the esophagus. The nostrils lead into the nasopharynx. An opening on each side of the nasopharynx leads into an ear. Nasopharyngeal cancer most commonly starts in the squamous cells that line the nasopharynx. Nasopharyngeal cancer is a type of head and neck cancer.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Salivary Gland Cancer ?"}, {"role": "assistant", "content": "Key Points\n - There are different types of treatment for patients with salivary gland cancer. - Patients with salivary gland cancer should have their treatment planned by a team of doctors who are experts in treating head and neck cancer. - Three types of standard treatment are used: - Surgery - Radiation therapy - Chemotherapy - New types of treatment are being tested in clinical trials. - Radiosensitizers - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed.\n \n \n There are different types of treatment for patients with salivary gland cancer.\n Different types of treatment are available for patients with salivary gland cancer. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Patients may want to think about taking part in a clinical trial. Some clinical trials are open only to patients who have not started treatment.\n \n \n Patients with salivary gland cancer should have their treatment planned by a team of doctors who are experts in treating head and neck cancer.\n Your treatment will be overseen by a medical oncologist, a doctor who specializes in treating people with cancer. Because the salivary glands help in eating and digesting food, patients may need special help adjusting to the side effects of the cancer and its treatment. The medical oncologist may refer you to other doctors who have experience and expertise in treating patients with head and neck cancer and who specialize in certain areas of medicine. These include the following: - Head and neck surgeon. - Radiation oncologist. - Dentist. - Speech therapist. - Dietitian. - Psychologist. - Rehabilitation specialist. - Plastic surgeon.\n \n \n Three types of standard treatment are used:\n Surgery Surgery (removing the cancer in an operation) is a common treatment for salivary gland cancer. A doctor may remove the cancer and some of the healthy tissue around the cancer. In some cases, a lymphadenectomy (surgery in which lymph nodes are removed) will also be done. Even if the doctor removes all the cancer that can be seen at the time of the surgery, some patients may be given radiation therapy after surgery to kill any cancer cells that are left. Treatment given after surgery, to lower the risk that the cancer will come back, is called adjuvant therapy. Radiation therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy: - External radiation therapy uses a machine outside the body to send radiation toward the cancer. Special types of external radiation may be used to treat some salivary gland tumors. These include: - Fast neutron radiation therapy: Fast neutron radiation therapy is a type of high-energy external radiation therapy. A radiation therapy machine aims neutrons (tiny, invisible particles) at the cancer cells to kill them. Fast neutron radiation therapy uses a higher-energy radiation than the x-ray type of radiation therapy. This allows the radiation therapy to be given in fewer treatments. - Photon-beam radiation therapy: Photon-beam radiation therapy is a type of external radiation therapy that reaches deep tumors with high-energy x-rays made by a machine called a linear accelerator. This can be delivered as hyperfractionated radiation therapy, in which the total dose of radiation is divided into small doses and the treatments are given more than once a day. - Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. The way the radiation therapy is given depends on the type and stage of the cancer being treated. External radiation therapy is used to treat salivary gland cancer, and may also be used as palliative therapy to relieve symptoms and improve quality of life. Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). The way the chemotherapy is given depends on the type and stage of the cancer being treated. See Drugs Approved for Head and Neck Cancer for more information. (Salivary gland cancer is a type of head and neck cancer.)\n \n \n New types of treatment are being tested in clinical trials.\n This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. Radiosensitizers Radiosensitizers are drugs that make tumor cells more sensitive to radiation therapy. Combining radiation therapy with radiosensitizers may kill more tumor cells.\n \n \n Patients may want to think about taking part in a clinical trial.\n For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward.\n \n \n Patients can enter clinical trials before, during, or after starting their cancer treatment.\n Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.\n \n \n Follow-up tests may be needed.\n Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups.\n \n\t\t \n\t\t Treatment Options by Stage\n\t\t \n\t\t \n\t\t Stage I Salivary Gland Cancer\n\t\t Treatment for stage I salivary gland cancer depends on whether the cancer is low-grade (slow growing) or high-grade (fast growing). If the cancer is low-grade, treatment may include the following: - Surgery with or without radiation therapy. - Fast neutron radiation therapy. If the cancer is high-grade, treatment may include the following: - Surgery with or without radiation therapy. - A clinical trial of chemotherapy. - A clinical trial of a new local therapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage I salivary gland cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.\n\t\t \n\t\t \n\t\t Stage II Salivary Gland Cancer\n\t\t Treatment for stage II salivary gland cancer depends on whether the cancer is low-grade (slow growing) or high-grade (fast growing). If the cancer is low-grade, treatment may include the following: - Surgery with or without radiation therapy. - Radiation therapy. - Chemotherapy. If the cancer is high-grade, treatment may include the following: - Surgery with or without radiation therapy. - Fast neutron or photon-beam radiation therapy. - A clinical trial of radiation therapy and/or radiosensitizers. - A clinical trial of chemotherapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage II salivary gland cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.\n\t\t \n\t\t \n\t\t Stage III Salivary Gland Cancer\n\t\t Treatment for stage III salivary gland cancer depends on whether the cancer is low-grade (slow growing) or high-grade (fast growing). If the cancer is low-grade, treatment may include the following: - Surgery with or without lymphadenectomy. Radiation therapy may also be given after surgery. - Radiation therapy. - Fast neutron radiation therapy to lymph nodes with cancer. - Chemotherapy. - A clinical trial of fast neutron radiation therapy to the tumor. - A clinical trial of chemotherapy. If the cancer is high-grade, treatment may include the following: - Surgery with or without lymphadenectomy. Radiation therapy may also be given after surgery. - Fast neutron radiation therapy. - Radiation therapy as palliative therapy to relieve symptoms and improve quality of life. - A clinical trial of radiation therapy and/or radiosensitizers. - A clinical trial of chemotherapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage III salivary gland cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.\n\t\t \n\t\t \n\t\t Stage IV Salivary Gland Cancer\n\t\t Treatment of stage IV salivary gland cancer may include the following: - Fast neutron or photon-beam radiation therapy. - A clinical trial of chemotherapy with or without radiation therapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage IV salivary gland cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) ichthyosis with confetti ?"}, {"role": "assistant", "content": "Ichthyosis with confetti is a disorder of the skin. Individuals with this condition are born with red, scaly skin all over the body, which can be itchy in some people. In childhood or adolescence, hundreds to thousands of small patches of normal skin appear, usually on the torso. The numerous pale spots surrounded by red skin look like confetti, giving the condition its name. The patches of normal skin increase in number and size over time. In addition to red, scaly skin, people with ichthyosis with confetti typically have abnormally thick skin on the palms of the hands and soles of the feet (palmoplantar keratoderma). Many affected individuals have excess hair (hirsutism) on some parts of the body, particularly on the arms and legs. Because of their skin abnormalities, people with ichthyosis with confetti are at increased risk of developing skin infections.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Hereditary Spastic Paraplegia ?"}, {"role": "assistant", "content": "Hereditary spastic paraplegia (HSP), also called familial spastic paraparesis (FSP), refers to a group of inherited disorders that are characterized by progressive weakness and spasticity (stiffness) of the legs. Early in the disease course, there may be mild gait difficulties and stiffness. These symptoms typically slowly progress so that eventually individuals with HSP may require the assistance of a cane, walker, or wheelchair. Though the primary features of \"pure\" HSP are progressive lower limb spasticity and weakness, complicated forms may be accompanied by other symptoms. These additional symptoms include impaired vision due to cataracts and problems with the optic nerve and retina of the eye, ataxia (lack of muscle coordination), epilepsy, cognitive impairment, peripheral neuropathy, and deafness. The diagnosis of HSP is primarily by neurological examination and testing to rule out other disorders. Brain MRI abnormalities, such as a thin corpus callosum, may be seen in some of the complicated forms of HSP. Several genetic mutations have been identified which underlie various forms of HSP, and specialized genetic testing and diagnosis are available at some medical centers. HSP has several forms of inheritance. Not all children in a family will necessarily develop symptoms, although they may be carriers of the abnormal gene. Symptoms may begin in childhood or adulthood, depending on the particular HSP gene involved.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to spastic paraplegia type 11 ?"}, {"role": "assistant", "content": "Mutations in the SPG11 gene cause spastic paraplegia type 11. The SPG11 gene provides instructions for making the protein spatacsin. Spatacsin is active (expressed) throughout the nervous system, although its exact function is unknown. Researchers speculate that spatacsin may be involved in the maintenance of axons, which are specialized extensions of nerve cells (neurons) that transmit impulses throughout the nervous system. SPG11 gene mutations typically change the structure of the spatacsin protein. The effect that the altered spatacsin protein has on the nervous system is not known. Researchers suggest that mutations in spatacsin may cause the signs and symptoms of spastic paraplegia type 11 by interfering with the protein's proposed role in the maintenance of axons.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Who is at risk for Endocarditis? ?"}, {"role": "assistant", "content": "Infective endocarditis (IE) is an uncommon condition that can affect both children and adults. It's more common in men than women.\n \nIE typically affects people who have abnormal hearts or other conditions that put them at risk for the infection. Sometimes IE does affect people who were healthy before the infection.\n \nMajor Risk Factors\n \nThe germs that cause IE tend to attach and multiply on damaged, malformed, or artificial (man-made) heart valves and implanted medical devices. Certain conditions put you at higher risk for IE. These include:\n \nCongenital heart defects (defects that are present at birth). Examples include a malformed heart or abnormal heart valves.\n \nArtificial heart valves, an implanted medical device in the heart (such as a pacemaker wire), or an intravenous (IV) catheter (tube) in a blood vessel for a long time.\n \nHeart valves damaged by rheumatic fever or calcium deposits that cause age-related valve thickening. Scars in the heart from a previous case of IE also can damage heart valves.\n \nIV drug use, especially if needles are shared or reused, contaminated substances are injected, or the skin isn't properly cleaned before injection.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of GRACILE syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of GRACILE syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for GRACILE syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of iron homeostasis 90% Abnormality of the renal tubule 90% Aminoaciduria 90% Cirrhosis 90% Hearing impairment 90% Hepatic steatosis 90% Abnormality of hair texture 50% Aminoaciduria 20/20 Cholestasis 19/20 Neonatal hypotonia 3/20 Chronic lactic acidosis - Increased serum ferritin - Increased serum iron - Increased serum pyruvate - Intrauterine growth retardation - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for autosomal recessive hypotrichosis ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of autosomal recessive hypotrichosis: - American Academy of Dermatology: Hair Loss: Tips for Managing - Genetic Testing Registry: Hypotrichosis 8 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Niemann-Pick disease ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of Niemann-Pick disease: - Baby's First Test - Gene Review: Gene Review: Acid Sphingomyelinase Deficiency - Gene Review: Gene Review: Niemann-Pick Disease Type C - Genetic Testing Registry: Niemann-Pick disease type C1 - Genetic Testing Registry: Niemann-Pick disease type C2 - Genetic Testing Registry: Niemann-Pick disease, type A - Genetic Testing Registry: Niemann-Pick disease, type B - Genetic Testing Registry: Niemann-Pick disease, type C - Genetic Testing Registry: Niemann-Pick disease, type D - Genetic Testing Registry: Niemann-pick disease, intermediate, protracted neurovisceral - Genetic Testing Registry: Sphingomyelin/cholesterol lipidosis - MedlinePlus Encyclopedia: Niemann-Pick Disease These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Do you have information about Steroids"}, {"role": "assistant", "content": "Summary : You may have heard of anabolic steroids, which can have harmful effects. But there's another type of steroid - sometimes called a corticosteroid - that treats a variety of problems. These steroids are similar to hormones that your adrenal glands make to fight stress associated with illnesses and injuries. They reduce inflammation and affect the immune system. You may need to take corticosteroids to treat - Arthritis - Asthma - Autoimmune diseases such as lupus and multiple sclerosis - Skin conditions such as eczema and rashes - Some kinds of cancer Steroids are strong medicines, and they can have side effects, including weakened bones and cataracts. Because of this, you usually take them for as short a time as possible.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the stages of Langerhans Cell Histiocytosis ?"}, {"role": "assistant", "content": "Key Points\n - There is no staging system for Langerhans cell histiocytosis (LCH). - Treatment of LCH is based on where LCH cells are found in the body and how many body systems are affected.\n \n \n There is no staging system for Langerhans cell histiocytosis (LCH).\n The extent or spread of cancer is usually described as stages. There is no staging system for LCH.\n \n \n Treatment of LCH is based on where LCH cells are found in the body and how many body systems are affected.\n LCH is described as single-system disease or multisystem disease, depending on how many body systems are affected: - Single-system LCH: LCH is found in one part of an organ or body system (unifocal) or in more than one part of that organ or body system (multifocal). Bone is the most common single place for LCH to be found. - Multisystem LCH: LCH occurs in two or more organs or body systems or may be spread throughout the body. Multisystem LCH is less common than single-system LCH. LCH may affect low-risk organs or high-risk organs: - Low-risk organs include the skin, bone, lungs, lymph nodes, gastrointestinal tract, pituitary gland, and central nervous system (CNS). - High-risk organs include the liver, spleen, and bone marrow.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Usher syndrome, type 1B ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Usher syndrome, type 1B? The Human Phenotype Ontology provides the following list of signs and symptoms for Usher syndrome, type 1B. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Absent vestibular function - Autosomal recessive inheritance - Heterogeneous - Motor delay - Rod-cone dystrophy - Sensorineural hearing impairment - Undetectable electroretinogram - Visual loss - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) neutral lipid storage disease with myopathy ?"}, {"role": "assistant", "content": "Neutral lipid storage disease with myopathy is a condition in which fats (lipids) are stored abnormally in organs and tissues throughout the body. People with this condition have muscle weakness (myopathy) due to the accumulation of fats in muscle tissue. Other features of this condition may include a fatty liver, a weakened and enlarged heart (cardiomyopathy), inflammation of the pancreas (pancreatitis), reduced thyroid activity (hypothyroidism), and type 2 diabetes mellitus (the most common form of diabetes). Signs and symptoms of neutral lipid storage disease with myopathy vary greatly among affected individuals.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Do you have information about Laser Eye Surgery"}, {"role": "assistant", "content": "Summary : For many people, laser eye surgery can correct their vision so they no longer need glasses or contact lenses. Laser eye surgery reshapes the cornea, the clear front part of the eye. This changes its focusing power. There are different types of laser eye surgery. LASIK - laser-assisted in situ keratomileusis - is one of the most common. Many patients who have LASIK end up with 20/20 vision. But, like all medical procedures, it has both risks and benefits. Only your eye doctor can tell if you are a good candidate for laser eye surgery.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to mitochondrial neurogastrointestinal encephalopathy disease ?"}, {"role": "assistant", "content": "Mutations in the TYMP gene (previously known as ECGF1) cause MNGIE disease. This gene provides instructions for making an enzyme called thymidine phosphorylase. Thymidine is a molecule known as a nucleoside, which (after a chemical modification) is used as a building block of DNA. Thymidine phosphorylase breaks down thymidine into smaller molecules, which helps regulate the level of nucleosides in cells. TYMP mutations greatly reduce or eliminate the activity of thymidine phosphorylase. A shortage of this enzyme allows thymidine to build up to very high levels in the body. Researchers believe that an excess of this molecule is damaging to a particular kind of DNA known as mitochondrial DNA or mtDNA. Mitochondria are structures within cells that convert the energy from food into a form that cells can use. Although most DNA is packaged in chromosomes within the nucleus, mitochondria also have a small amount of their own DNA. Mitochondria use nucleosides, including thymidine, to build new molecules of mtDNA as needed. A loss of thymidine phosphorylase activity and the resulting buildup of thymidine disrupt the usual maintenance and repair of mtDNA. As a result, mutations can accumulate in mtDNA, causing it to become unstable. Additionally, mitochondria may have less mtDNA than usual (mtDNA depletion). These genetic changes impair the normal function of mitochondria. Although mtDNA abnormalities underlie the digestive and neurological problems characteristic of MNGIE disease, it is unclear how defective mitochondria cause the specific features of the disorder.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is the outlook for Aphasia ?"}, {"role": "assistant", "content": "The outcome of aphasia is difficult to predict given the wide range of variability of the condition. Generally, people who are younger or have less extensive brain damage fare better. The location of the injury is also important and is another clue to prognosis. In general, people tend to recover skills in language comprehension more completely than those skills involving expression.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Diabetes, Heart Disease, and Stroke ?"}, {"role": "assistant", "content": "Diabetes is a disorder of metabolismthe way our bodies use digested food for energy. Most of the food we eat is broken down into glucose, the form of sugar in the blood. Glucose is the body's main source of fuel.\n \nAfter digestion, glucose enters the bloodstream. Then glucose goes to cells throughout the body where it is used for energy. However, a hormone called insulin must be present to allow glucose to enter the cells. Insulin is a hormone produced by the pancreas, a large gland behind the stomach.\n \nIn people who do not have diabetes, the pancreas automatically produces the right amount of insulin to move glucose from blood into the cells. However, diabetes develops when the pancreas does not make enough insulin, or the cells in the muscles, liver, and fat do not use insulin properly, or both. As a result, the amount of glucose in the blood increases while the cells are starved of energy.\n \nOver time, high blood glucose levels damage nerves and blood vessels, leading to complications such as heart disease and stroke, the leading causes of death among people with diabetes. Uncontrolled diabetes can eventually lead to other health problems as well, such as vision loss, kidney failure, and amputations.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) myoclonic epilepsy with ragged-red fibers ?"}, {"role": "assistant", "content": "Myoclonic epilepsy with ragged-red fibers (MERRF) is a disorder that affects many parts of the body, particularly the muscles and nervous system. In most cases, the signs and symptoms of this disorder appear during childhood or adolescence. The features of MERRF vary widely among affected individuals, even among members of the same family. MERRF is characterized by muscle twitches (myoclonus), weakness (myopathy), and progressive stiffness (spasticity). When the muscle cells of affected individuals are stained and viewed under a microscope, these cells usually appear abnormal. These abnormal muscle cells are called ragged-red fibers. Other features of MERRF include recurrent seizures (epilepsy), difficulty coordinating movements (ataxia), a loss of sensation in the extremities (peripheral neuropathy), and slow deterioration of intellectual function (dementia). People with this condition may also develop hearing loss or optic atrophy, which is the degeneration (atrophy) of nerve cells that carry visual information from the eyes to the brain. Affected individuals sometimes have short stature and a form of heart disease known as cardiomyopathy. Less commonly, people with MERRF develop fatty tumors, called lipomas, just under the surface of the skin.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) optic atrophy type 1 ?"}, {"role": "assistant", "content": "Optic atrophy type 1 is a condition that affects vision. Individuals with this condition have progressive vision loss that typically begins within the first decade of life. The severity of the vision loss varies widely among affected people, even among members of the same family. People with this condition can range from having nearly normal vision to complete blindness. The vision loss usually progresses slowly. People with optic atrophy type 1 frequently have problems with color vision that make it difficult or impossible to distinguish between shades of blue and green. Other vision problems associated with this condition include a progressive narrowing of the field of vision (tunnel vision) and an abnormally pale appearance (pallor) of the nerve that relays visual information from the eye to the brain (optic nerve). Optic nerve pallor can be detected during an eye examination.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for X-linked lissencephaly with abnormal genitalia ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of X-linked lissencephaly with abnormal genitalia: - Genetic Testing Registry: Lissencephaly 2, X-linked These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Pain ?"}, {"role": "assistant", "content": "Pain is a feeling triggered in the nervous system. Pain may be sharp or dull. It may come and go, or it may be constant. You may feel pain in one area of your body, such as your back, abdomen or chest or you may feel pain all over, such as when your muscles ache from the flu. Pain can be helpful in diagnosing a problem. Without pain, you might seriously hurt yourself without knowing it, or you might not realize you have a medical problem that needs treatment. Once you take care of the problem, pain usually goes away. However, sometimes pain goes on for weeks, months or even years. This is called chronic pain. Sometimes chronic pain is due to an ongoing cause, such as cancer or arthritis. Sometimes the cause is unknown. Fortunately, there are many ways to treat pain. Treatment varies depending on the cause of pain. Pain relievers, acupuncture and sometimes surgery are helpful.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of STING-associated vasculopathy with onset in infancy ?"}, {"role": "assistant", "content": "What are the signs and symptoms of STING-associated vasculopathy with onset in infancy? The Human Phenotype Ontology provides the following list of signs and symptoms for STING-associated vasculopathy with onset in infancy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Arthralgia 5% Joint stiffness 5% Myalgia 5% Myositis 5% Anemia - Cutis marmorata - Elevated erythrocyte sedimentation rate - Erythema - Failure to thrive - Fever - Follicular hyperplasia - Growth delay - Increased antibody level in blood - Interstitial pulmonary disease - Leukopenia - Nail dystrophy - Pustule - Recurrent respiratory infections - Telangiectasia - Thrombocytosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) polycythemia vera ?"}, {"role": "assistant", "content": "Polycythemia vera is a condition characterized by an increased number of red blood cells in the bloodstream. Affected individuals may also have excess white blood cells and blood clotting cells called platelets. These extra cells cause the blood to be thicker than normal. As a result, abnormal blood clots are more likely to form and block the flow of blood through arteries and veins. Individuals with polycythemia vera have an increased risk of deep vein thrombosis (DVT), a type of blood clot that occurs in the deep veins of the arms or legs. If a DVT travels through the bloodstream and lodges in the lungs, it can cause a life-threatening clot known as a pulmonary embolism (PE). Affected individuals also have an increased risk of heart attack and stroke caused by blood clots in the heart and brain. Polycythemia vera typically develops in adulthood, around age 60, although in rare cases it occurs in children and young adults. This condition may not cause any symptoms in its early stages. Some people with polycythemia vera experience headaches, dizziness, ringing in the ears (tinnitus), impaired vision, or itchy skin. Affected individuals frequently have reddened skin because of the extra red blood cells. Other complications of polycythemia vera include an enlarged spleen (splenomegaly), stomach ulcers, gout (a form of arthritis caused by a buildup of uric acid in the joints), heart disease, and cancer of blood-forming cells (leukemia).", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Stormorken syndrome inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Erythema multiforme ?"}, {"role": "assistant", "content": "Erythema multiforme (EM) refers to a group of hypersensitivity disorders characterized by symmetric red, patchy lesions, primarily on the arms and legs. The cause is unknown, but EM frequently occurs in association with herpes simplex virus, suggesting an immunologic process initiated by the virus. In half of the cases, the triggering agents appear to be medications, including anticonvulsants, sulfonamides, nonsteroidal anti-inflammatory drugs, and other antibiotics. In addition, some cases appear to be associated with infectious organisms such as Mycoplasma pneumoniae and many viral agents. Erythema multiforme is the mildest of three skin disorders that are often discussed in relation to each other. It is generally the mildest of the three. More severe is Stevens-Johnson syndrome. The most severe of the three is toxic epidermal necrolysis (TEN).", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Wyburn Mason's syndrome ?"}, {"role": "assistant", "content": "Wyburn Mason's syndrome is a condition in which blood vessels do not form correctly in both the retina of one eye and a part of the brain. These malformed blood vessels are called arteriovenous malformations (AVM). Wyburn Mason's syndrome is present from birth (congenital) and the cause is unknown. Individuals with this condition may have additional AVMs in other parts of the body, particularly the face. The symptoms of this condition are quite variable and depend on the size, location, and shape of the AVMs. Affected individuals may have no symptoms or may experience headaches, problems with vision, seizures, or partial paralysis (hemiparesis). Treatment usually consists of periodic visits to the doctor to see if the AVMs are changing over time.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is alveolar capillary dysplasia with misalignment of pulmonary veins inherited ?"}, {"role": "assistant", "content": "ACD/MPV is usually not inherited, and most affected people have no history of the disorder in their family. The genetic changes associated with this condition usually occur during the formation of reproductive cells (eggs and sperm) or in early fetal development. When the condition is caused by a FOXF1 gene mutation or deletion, one altered or missing gene in each cell is sufficient to cause the disorder. Individuals with ACD/MPV do not pass the genetic change on to their children because they do not live long enough to reproduce. A few families have been identified in which more than one sibling has ACD/MPV. It is not clear how ACD/MPV is inherited in these families because no genetic changes have been identified.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to Pol III-related leukodystrophy ?"}, {"role": "assistant", "content": "Pol III-related leukodystrophy is caused by mutations in the POLR3A or POLR3B gene. These genes provide instructions for making the two largest parts (subunits) of an enzyme called RNA polymerase III. This enzyme is involved in the production (synthesis) of ribonucleic acid (RNA), a chemical cousin of DNA. The RNA polymerase III enzyme attaches (binds) to DNA and synthesizes RNA in accordance with the instructions carried by the DNA, a process called transcription. RNA polymerase III helps synthesize several forms of RNA, including ribosomal RNA (rRNA) and transfer RNA (tRNA). Molecules of rRNA and tRNA assemble protein building blocks (amino acids) into working proteins; this process is essential for the normal functioning and survival of cells. Researchers suggest that mutations in the POLR3A or POLR3B gene may impair the ability of subunits of the RNA polymerase III enzyme to assemble properly or result in an RNA polymerase III with impaired ability to bind to DNA. Reduced function of the RNA polymerase III molecule likely affects development and function of many parts of the body, including the nervous system and the teeth, but the relationship between POLR3A and POLR3B gene mutations and the specific signs and symptoms of Pol III-related leukodystrophy is unknown.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Oculopharyngeal muscular dystrophy ?"}, {"role": "assistant", "content": "How might oculopharyngeal muscular dystrophy be treated? Treatment of oculopharyngeal muscular dystrophy (OPMD) mainly focuses on the specific signs and symptoms present in each individual. Severe drooping of the eyelid (ptosis) may be treated with plastic surgery on the eyelid (blepharoplasty). The goal of this surgery is to raise the eyelid so that the affected individual can see. Individuals with severe difficulty swallowing (dysphagia) may have a surgical procedure known as cricopharyngeal myotomy. In this procedure, the cricopharyngeal muscle of the throat is cut so that when swallowing occurs, the muscle remains relaxed allowing the passage of food or liquid. Orthopedic devices such as canes, leg braces, or walkers can assist individuals who have difficulty walking. Other treatment is symptomatic and supportive.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by mucolipidosis type IV ?"}, {"role": "assistant", "content": "Mucolipidosis type IV is estimated to occur in 1 in 40,000 people. About 70 percent of affected individuals have Ashkenazi Jewish ancestry.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Gaucher disease ?"}, {"role": "assistant", "content": "Gaucher disease is an inherited disorder that affects many of the body's organs and tissues. The signs and symptoms of this condition vary widely among affected individuals. Researchers have described several types of Gaucher disease based on their characteristic features. Type 1 Gaucher disease is the most common form of this condition. Type 1 is also called non-neuronopathic Gaucher disease because the brain and spinal cord (the central nervous system) are usually not affected. The features of this condition range from mild to severe and may appear anytime from childhood to adulthood. Major signs and symptoms include enlargement of the liver and spleen (hepatosplenomegaly), a low number of red blood cells (anemia), easy bruising caused by a decrease in blood platelets (thrombocytopenia), lung disease, and bone abnormalities such as bone pain, fractures, and arthritis. Types 2 and 3 Gaucher disease are known as neuronopathic forms of the disorder because they are characterized by problems that affect the central nervous system. In addition to the signs and symptoms described above, these conditions can cause abnormal eye movements, seizures, and brain damage. Type 2 Gaucher disease usually causes life-threatening medical problems beginning in infancy. Type 3 Gaucher disease also affects the nervous system, but it tends to worsen more slowly than type 2. The most severe type of Gaucher disease is called the perinatal lethal form. This condition causes severe or life-threatening complications starting before birth or in infancy. Features of the perinatal lethal form can include extensive swelling caused by fluid accumulation before birth (hydrops fetalis); dry, scaly skin (ichthyosis) or other skin abnormalities; hepatosplenomegaly; distinctive facial features; and serious neurological problems. As its name indicates, most infants with the perinatal lethal form of Gaucher disease survive for only a few days after birth. Another form of Gaucher disease is known as the cardiovascular type because it primarily affects the heart, causing the heart valves to harden (calcify). People with the cardiovascular form of Gaucher disease may also have eye abnormalities, bone disease, and mild enlargement of the spleen (splenomegaly).", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "are there complications from botulism?"}, {"role": "assistant", "content": "Botulism can result in death due to respiratory failure. However, in the past 50 years the proportion of patients with botulism who die has fallen from about 50% to 3-5%. A patient with severe botulism may require a breathing machine as well as intensive medical and nursing care for several months, and some patients die from infections or other problems related to remaining paralyzed for weeks or months. Patients who survive an episode of botulism poisoning may have fatigue and shortness of breath for years and long-term therapy may be needed to aid recovery.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Juvenile Huntington disease inherited ?"}, {"role": "assistant", "content": "How is Juvenile Huntington disease (HD) inherited? Juvenile HD is inherited in an autosomal dominant manner, which means that one copy of the altered gene in each cell is sufficient to cause the disorder. An affected person usually inherits the altered gene from one affected parent. As the altered HTT gene is passed from one generation to the next, the size of the CAG trinucleotide repeat often increases in size. A larger number of repeats is usually associated with an earlier onset of signs and symptoms (anticipation). A larger number of repeats is usually associated with an earlier onset of signs and symptoms. Most often, children with juvenile HD inherit the expanded CAG trinucleotide repeat from their fathers, although on occasion they inherit it from their mothers.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) MYH9-related disorder ?"}, {"role": "assistant", "content": "MYH9-related disorder is a condition that can have many signs and symptoms, including bleeding problems, hearing loss, kidney (renal) disease, and clouding of the lens of the eyes (cataracts). The bleeding problems in people with MYH9-related disorder are due to thrombocytopenia. Thrombocytopenia is a reduced level of circulating platelets, which are cell fragments that normally assist with blood clotting. People with MYH9-related disorder typically experience easy bruising, and affected women have excessive bleeding during menstruation (menorrhagia). The platelets in people with MYH9-related disorder are larger than normal. These enlarged platelets have difficulty moving into tiny blood vessels like capillaries. As a result, the platelet level is even lower in these small vessels, further impairing clotting. Some people with MYH9-related disorder develop hearing loss caused by abnormalities of the inner ear (sensorineural hearing loss). Hearing loss may be present from birth or can develop anytime into late adulthood. An estimated 30 to 70 percent of people with MYH9-related disorder develop renal disease, usually beginning in early adulthood. The first sign of renal disease in MYH9-related disorder is typically protein or blood in the urine. Renal disease in these individuals particularly affects structures called glomeruli, which are clusters of tiny blood vessels that help filter waste products from the blood. The resulting damage to the kidneys can lead to kidney failure and end-stage renal disease (ESRD). Some affected individuals develop cataracts in early adulthood that worsen over time. Not everyone with MYH9-related disorder has all of the major features. All individuals with MYH9-related disorder have thrombocytopenia and enlarged platelets. Most commonly, affected individuals will also have hearing loss and renal disease. Cataracts are the least common sign of this disorder. MYH9-related disorder was previously thought to be four separate disorders: May-Hegglin anomaly, Epstein syndrome, Fechtner syndrome, and Sebastian syndrome. All of these disorders involved thrombocytopenia and enlarged platelets and were distinguished by some combination of hearing loss, renal disease, and cataracts. When it was discovered that these four conditions all had the same genetic cause, they were combined and renamed MYH9-related disorder.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Loeys-Dietz syndrome inherited ?"}, {"role": "assistant", "content": "Loeys-Dietz syndrome is considered to have an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In about 75 percent of cases, this disorder results from a new gene mutation and occurs in people with no history of the disorder in their family. In other cases, an affected person inherits the mutation from one affected parent.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What to do for Celiac Disease ?"}, {"role": "assistant", "content": "Eating, diet, and nutrition play a significant role in treating celiac disease. People with the disease should maintain a gluten-free diet by avoiding products that contain gluten. In other words, a person with celiac disease should not eat most grains, pasta, and cereal, and many processed foods.\n \nPeople with celiac disease can eat a wellbalanced diet with a variety of foods. They can use potato, rice, soy, amaranth, quinoa, buckwheat, or bean flour instead of wheat flour. They can buy gluten-free bread, pasta, and other products from stores, or order products from special food companies. Meanwhile, \"plain\"meaning no additives or seasoningsmeat, fish, rice, fruits, and vegetables do not contain gluten, so people with celiac disease can eat these foods.\n \nIn the past, health care providers and dietitians advised people with celiac disease to avoid eating oats. Evidence suggests that most people with the disease can safely eat small amounts of oats, as long as the oats are not contaminated with wheat gluten during processing. People with celiac disease should talk with their health care team when deciding whether to include oats in their diet.\n \nEating out and shopping can be a challenge. Newly diagnosed people and their families may find support groups helpful as they adjust to a new approach to eating. People with celiac disease should\n \n- read food labelsespecially canned, frozen, and processed foodsfor ingredients that contain gluten - avoid ingredients such as hydrolyzed vegetable protein, also called lecithin or soy lecithin - ask restaurant servers and chefs about ingredients and food preparation inquire whether a gluten-free menu is available - ask a dinner or party host about glutenfree options before attending a social gathering\n \nFoods that are packaged as gluten-free tend to cost more than the same foods containing gluten. People following a gluten-free diet may find that naturally gluten-free foods are less expensive. With practice, looking for gluten can become second nature.\n \nThe Gluten-free Diet: Some Examples\n \nThe Academy of Nutrition and Dietetics has published recommendations for a glutenfree diet. The following chart illustrates these recommendations. This list is not complete, so people with celiac disease should discuss gluten-free food choices with a dietitian or health care professional who specializes in celiac disease. People with celiac disease should always read food ingredient lists carefully to make sure the food does not contain gluten.\n \nTable 1. Gluten-free foods and foods that contain gluten\n \nFoods and Ingredients That Contain Gluten barley rye triticale (a cross between wheat and rye) wheat, including - including einkorn, emmer, spelt, kamut - wheat starch, wheat bran, wheat germ, cracked wheat, hydrolyzed wheat protein brewer's yeast dextrin malt (unless a gluten-free source is named, such as corn malt) modified food starch oats (not labeled gluten-free) starch Other Wheat Products That Contain Gluten bromated flour durum flour enriched flour farina graham flour phosphated flour plain flour self-rising flour semolina white flour Processed Foods That May Contain Wheat, Barley, or Rye* bouillon cubes brown rice syrup candy chewing gum chips/potato chips cold cuts, hot dogs, salami, sausage communion wafers french fries gravies imitation fish matzo and matzo meal rice mixes sauces seasoned tortilla chips self-basting turkey soups soy sauce vegetables in sauce *Most of these foods can be found gluten-free. When in doubt, check with the food manufacturer. Food Products and Ingredients Made from Barley* ale beer malt malt beverages malted milk malt extract malt syrup malt vinegar other fermented beverages porter stout *People should only consume these foods if they are labeled gluten-freesuch as sorghum-based beeror they list a grain source other than barley, wheat, or ryesuch as corn malt. Foods That Do Not Contain Gluten amaranth arrowroot buckwheat cassava corn flax legumes lentils millet nuts oats (labeled gluten-free) potatoes quinoa rice sago seeds sorghum soy tapioca tef (or teff) wild rice yucca\n \n\n \nFood Labeling Requirements On August 2, 2013, the U.S. Food and Drug Administration (FDA) published a new regulation defining the term \"glutenfree\" for voluntary food labeling. This new federal definition standardizes the meaning of \"gluten-free\" foods regulated by the FDA. Foods regulated by the U.S. Department of Agriculture, including meat and egg products, are not subject to this regulation. The regulation requires that any food with the term \"gluten-free\" on the label must meet all of the requirements of the definition, including that the food should contain fewer than 20 parts per million of gluten. The FDA rule also requires foods with the claims \"no gluten,\" \"free of gluten,\" and \"without gluten\" to meet the definition for \"gluten-free.\" If a food that is labeled \"gluten-free\" includes \"wheat\" on the ingredients list or \"contains wheat\" after the list, the following statement must be included on the label: \"The wheat has been processed to allow this food to meet the Food and Drug Administration requirements for gluten-free food.\" If this statement is included, people with celiac disease may consume foods labeled \"gluten-free.\"", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Buschke Ollendorff syndrome inherited ?"}, {"role": "assistant", "content": "How is Buschke Ollendorff syndrome inherited? Buschke Ollendorff syndrome (BOS) is caused by mutations in the LEMD3 gene and is inherited in an autosomal dominant manner. This means that only one changed (mutated) copy of the gene in each cell is sufficient for a person to be affected by the condition. An affected individual may have inherited a mutated copy of the LEMD3 gene from an affected parent, or they may have been born with a new (de novo) mutation. There is a 50% (1 in 2) chance for each child of an affected individual to inherit the mutated gene, and a 50% chance for each child to not inherit the mutated gene. It has been proposed that the inheritance of BOS shows incomplete penetrance. Penetrance refers to the proportion of people with a particular genetic change (such as a mutation in a specific gene) who exhibit signs and symptoms of a genetic disorder. If some people with the mutation do not develop features of the disorder, the condition is said to have reduced (or incomplete) penetrance. Reduced penetrance probably results from a combination of genetic, environmental, and lifestyle factors, many of which are unknown. This phenomenon can make it challenging for genetics professionals to interpret a persons family medical history and predict the risk of passing a genetic condition to future generations. This means that not all individuals who have a new or inherited mutation in the LEMD3 gene will necessarily develop signs and symptoms of BOS.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Health Disparities ?"}, {"role": "assistant", "content": "Health disparities refer to differences in the health status of different groups of people. Some groups of people have higher rates of certain diseases, and more deaths and suffering from them, compared to others. These groups may be based on - Race - Ethnicity - Immigrant status - Disability - Sex or gender - Sexual orientation - Geography - Income NIH: National Institute on Minority Health and Health Disparities", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is holocarboxylase synthetase deficiency inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to Lynch syndrome ?"}, {"role": "assistant", "content": "Variations in the MLH1, MSH2, MSH6, PMS2, or EPCAM gene increase the risk of developing Lynch syndrome. The MLH1, MSH2, MSH6, and PMS2 genes are involved in the repair of mistakes that occur when DNA is copied in preparation for cell division (a process called DNA replication). Mutations in any of these genes prevent the proper repair of DNA replication mistakes. As the abnormal cells continue to divide, the accumulated mistakes can lead to uncontrolled cell growth and possibly cancer. Mutations in the EPCAM gene also lead to impaired DNA repair, although the gene is not itself involved in this process. The EPCAM gene lies next to the MSH2 gene on chromosome 2; certain EPCAM gene mutations cause the MSH2 gene to be turned off (inactivated), interrupting DNA repair and leading to accumulated DNA mistakes. Although mutations in these genes predispose individuals to cancer, not all people who carry these mutations develop cancerous tumors.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) achromatopsia ?"}, {"role": "assistant", "content": "Achromatopsia is a condition characterized by a partial or total absence of color vision. People with complete achromatopsia cannot perceive any colors; they see only black, white, and shades of gray. Incomplete achromatopsia is a milder form of the condition that allows some color discrimination. Achromatopsia also involves other problems with vision, including an increased sensitivity to light and glare (photophobia), involuntary back-and-forth eye movements (nystagmus), and significantly reduced sharpness of vision (low visual acuity). Affected individuals can also have farsightedness (hyperopia) or, less commonly, nearsightedness (myopia). These vision problems develop in the first few months of life. Achromatopsia is different from the more common forms of color vision deficiency (also called color blindness), in which people can perceive color but have difficulty distinguishing between certain colors, such as red and green.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Lupus Nephritis ?"}, {"role": "assistant", "content": "Lupus nephritis is kidney inflammation caused by systemic lupus erythematosus (SLE or lupus). SLE is an autoimmune diseasea disorder in which the bodys immune system attacks the bodys own cells and organs. Up to 60 percent of people with SLE are diagnosed with lupus nephritis, which can lead to significant illness and even death.1", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) hereditary cerebral amyloid angiopathy ?"}, {"role": "assistant", "content": "Hereditary cerebral amyloid angiopathy is a condition that can cause a progressive loss of intellectual function (dementia), stroke, and other neurological problems starting in mid-adulthood. Due to neurological decline, this condition is typically fatal in one's sixties, although there is variation depending on the severity of the signs and symptoms. Most affected individuals die within a decade after signs and symptoms first appear, although some people with the disease have survived longer. There are many different types of hereditary cerebral amyloid angiopathy. The different types are distinguished by their genetic cause and the signs and symptoms that occur. The various types of hereditary cerebral amyloid angiopathy are named after the regions where they were first diagnosed. The Dutch type of hereditary cerebral amyloid angiopathy is the most common form. Stroke is frequently the first sign of the Dutch type and is fatal in about one third of people who have this condition. Survivors often develop dementia and have recurrent strokes. About half of individuals with the Dutch type who have one or more strokes will have recurrent seizures (epilepsy). People with the Flemish and Italian types of hereditary cerebral amyloid angiopathy are prone to recurrent strokes and dementia. Individuals with the Piedmont type may have one or more strokes and typically experience impaired movements, numbness or tingling (paresthesias), confusion, or dementia. The first sign of the Icelandic type of hereditary cerebral amyloid angiopathy is typically a stroke followed by dementia. Strokes associated with the Icelandic type usually occur earlier than the other types, with individuals typically experiencing their first stroke in their twenties or thirties. Strokes are rare in people with the Arctic type of hereditary cerebral amyloid angiopathy, in which the first sign is usually memory loss that then progresses to severe dementia. Strokes are also uncommon in individuals with the Iowa type. This type is characterized by memory loss, problems with vocabulary and the production of speech, personality changes, and involuntary muscle twitches (myoclonus). Two types of hereditary cerebral amyloid angiopathy, known as familial British dementia and familial Danish dementia, are characterized by dementia and movement problems. Strokes are uncommon in these types. People with the Danish type may also have clouding of the lens of the eyes (cataracts) or deafness.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Ataxia with Oculomotor Apraxia Type 2 ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Ataxia with Oculomotor Apraxia Type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Ataxia with Oculomotor Apraxia Type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Impaired distal tactile sensation 57% Tremor 57% Strabismus 30% Conjunctival telangiectasia 5% Areflexia 10/10 Cerebellar atrophy 8/8 Distal amyotrophy 10/10 Distal muscle weakness 10/10 Dysarthria 10/10 Dysphagia 10/10 Elevated alpha-fetoprotein 6/6 Gait ataxia 10/10 Impaired proprioception 10/10 Peripheral axonal neuropathy 8/8 Nystagmus 8/10 Pes cavus 12/18 Oculomotor apraxia 10/18 Scoliosis 7/18 Dystonia 5/18 Head tremor 5/19 Chorea 4/18 Hyporeflexia 4/18 Abnormal pyramidal signs - Autosomal recessive inheritance - Decreased motor nerve conduction velocity - Elevated serum creatine phosphokinase - Gaze-evoked nystagmus - Impaired distal vibration sensation - Increased antibody level in blood - Limb ataxia - Polyneuropathy - Pontocerebellar atrophy - Progressive - Progressive gait ataxia - Saccadic smooth pursuit - Variable expressivity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Parasites - African Trypanosomiasis (also known as Sleeping Sickness) ?"}, {"role": "assistant", "content": "The diagnosis of African Trypanosomiasis is made through laboratory methods, because the clinical features of infection are not sufficiently specific. The diagnosis rests on finding the parasite in body fluid or tissue by microscopy. The parasite load in T. b. rhodesiense infection is substantially higher than the level in T. b. gambiense infection.\n \nT. b. rhodesiense parasites can easily be found in blood. They can also be found in lymph node fluid or in fluid or biopsy of a chancre. Serologic testing is not widely available and is not used in the diagnosis, since microscopic detection of the parasite is straightforward.\n \nThe classic method for diagnosing T. b. gambiense infection is by microscopic examination of lymph node aspirate, usually from a posterior cervical node. It is often difficult to detect T. b. gambiense in blood. Concentration techniques and serial examinations are frequently needed. Serologic testing is available outside the U.S. for T. b. gambiense; however, it normally is used for screening purposes only and the definitive diagnosis rests on microscopic observation of the parasite.\n \nAll patients diagnosed with African trypanosomiasis must have their cerebrospinal fluid examined to determine whether there is involvement of the central nervous system, since the choice of treatment drug(s) will depend on the disease stage. The World Health Organization criteria for central nervous system involvement include increased protein in cerebrospinal fluid and a white cell count of more than 5. Trypanosomes can often be observed in cerebrospinal fluid in persons with second stage infection.\n \nMore on: Resources for Health Professionals: Diagnosis", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to acatalasemia ?"}, {"role": "assistant", "content": "Mutations in the CAT gene can cause acatalasemia. This gene provides instructions for making the enzyme catalase, which breaks down hydrogen peroxide molecules into oxygen and water. Hydrogen peroxide is produced through chemical reactions within cells. At low levels, it is involved in several chemical signaling pathways, but at high levels it is toxic to cells. If hydrogen peroxide is not broken down by catalase, additional reactions convert it into compounds called reactive oxygen species that can damage DNA, proteins, and cell membranes. Mutations in the CAT gene greatly reduce the activity of catalase. A shortage of this enzyme can allow hydrogen peroxide to build up to toxic levels in certain cells. For example, hydrogen peroxide produced by bacteria in the mouth may accumulate in and damage soft tissues, leading to mouth ulcers and gangrene. A buildup of hydrogen peroxide may also damage beta cells of the pancreas, which release a hormone called insulin that helps control blood sugar. Malfunctioning beta cells are thought to underlie the increased risk of type 2 diabetes mellitus in people with acatalasemia. It is unclear why some people have no health problems associated with a loss of catalase activity. Many people with reduced catalase activity do not have an identified mutation in the CAT gene; in these cases, the cause of the condition is unknown. Researchers believe that other genetic and environmental factors can also influence the activity of catalase.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by congenital sucrase-isomaltase deficiency ?"}, {"role": "assistant", "content": "The prevalence of congenital sucrase-isomaltase deficiency is estimated to be 1 in 5,000 people of European descent. This condition is much more prevalent in the native populations of Greenland, Alaska, and Canada, where as many as 1 in 20 people may be affected.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by recombinant 8 syndrome ?"}, {"role": "assistant", "content": "Recombinant 8 syndrome is a rare condition; its exact incidence is unknown. Most people with this condition are descended from a Hispanic population originating in the San Luis Valley area of southern Colorado and northern New Mexico. Recombinant 8 syndrome is also called San Luis Valley syndrome. Only a few cases outside this population have been found.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is the outlook for Congenital Myopathy ?"}, {"role": "assistant", "content": "When breathing difficulties are severe, and particularly if there is also a problem with feeding and swallowing, infants may die of respiratory failure or complications such as pneumonia. Sometimes muscle weakness can lead to skeletal problems, such as scoliosis, reduced mobility of joints, or hip problems. The heart muscle is rarely involved.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Do you have information about Health Insurance"}, {"role": "assistant", "content": "Summary : Health insurance helps protect you from high medical care costs. It is a contract between you and your insurance company. You buy a plan or policy, and the company agrees to pay part of your expenses when you need medical care. Many people in the United States get a health insurance policy through their employers. In most cases, the employer helps pay for that insurance. Insurance through employers is often with a managed care plan. These plans contract with health care providers and medical facilities to provide care for members at reduced costs. You can also purchase health insurance on your own. People who meet certain requirements can qualify for government health insurance, such as Medicare and Medicaid. The Affordable Care Act expands health insurance coverage for many people in the U.S.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "what research (or clinical trials) is being done for Klver-Bucy Syndrome ?"}, {"role": "assistant", "content": "NINDS supports and conducts research on neurobehavioral disorders such as Klver-Bucy syndrome. Much of the research focuses on learning more about these disorders and finding ways to prevent and treat them.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Dopa-responsive dystonia ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Dopa-responsive dystonia? The most common form of dopa-responsive dystonia (DRD) is autosomal dominant DRD (caused by a mutation in the GCH1 gene). This form of DRD is usually characterized by childhood-onset dystonia that may be associated with parkinsonism at an older age. The average age of onset is 6 years, and females are 2-4 times more likely than males to be affected. Symptoms usually begin with lower limb dystonia, resulting in gait problems that can cause stumbling and falling. Symptoms are often worse later in the day, a phenomenon known as diurnal fluctuation. In rare cases, the first symptom may be arm dystonia, tremor of the hands, slowness of movements, or cervical dystonia. This form of DRD usually progresses to affect the whole body, and some people also develop parkinsonism. Depression, anxiety, sleep disturbances and obsessive-compulsive disorder have been reported in some people. Intellectual function is normal. Those with onset at older ages tend to be more mildly affected. Another form of DRD is due to a rare condition called sepiapterin reductase deficiency, which is inherited in an autosomal recessive manner. This form of DRD is also characterized by dystonia with diurnal fluctuations, but also affects motor and cognitive development. Onset usually occurs before the first year of life. Sleep disturbances and psychological symptoms (anxiety, irritability) are common later in childhood. A third form of DRD is autosomal recessive DRD, also called tyrosine hydroxylase deficiency. This form is characterized by a spectrum of symptoms, ranging from those seen in the autosomal dominant form to progressive infantile encephalopathy. Onset is usually in infancy. Intellectual disability, developmental motor delay, and various other features may be present. The Human Phenotype Ontology provides the following list of signs and symptoms for Dopa-responsive dystonia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Gait disturbance 90% Hypertonia 90% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Larsen syndrome inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family. Autosomal recessive inheritance of Larsen syndrome has been reported in a small number of families. Autosomal recessive means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. In some of these cases, the appearance of autosomal recessive inheritance may actually result from multiple siblings in a family each inheriting a single altered gene from an unaffected parent who has an FLNB mutation only in some or all of their sperm or egg cells. When a mutation is present only in reproductive cells, it is known as germline mosaicism. A few rarer conditions with overlapping signs and symptoms and autosomal recessive inheritance have sometimes been diagnosed as Larsen syndrome, but they are now generally considered to be different disorders because they are typically more severe and are not caused by FLNB gene mutations.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by Carney complex ?"}, {"role": "assistant", "content": "Carney complex is a rare disorder; fewer than 750 affected individuals have been identified.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to hereditary angioedema ?"}, {"role": "assistant", "content": "Mutations in the SERPING1 gene cause hereditary angioedema type I and type II. The SERPING1 gene provides instructions for making the C1 inhibitor protein, which is important for controlling inflammation. C1 inhibitor blocks the activity of certain proteins that promote inflammation. Mutations that cause hereditary angioedema type I lead to reduced levels of C1 inhibitor in the blood, while mutations that cause type II result in the production of a C1 inhibitor that functions abnormally. Without the proper levels of functional C1 inhibitor, excessive amounts of a protein fragment (peptide) called bradykinin are generated. Bradykinin promotes inflammation by increasing the leakage of fluid through the walls of blood vessels into body tissues. Excessive accumulation of fluids in body tissues causes the episodes of swelling seen in individuals with hereditary angioedema type I and type II. Mutations in the F12 gene are associated with some cases of hereditary angioedema type III. This gene provides instructions for making a protein called coagulation factor XII. In addition to playing a critical role in blood clotting (coagulation), factor XII is also an important stimulator of inflammation and is involved in the production of bradykinin. Certain mutations in the F12 gene result in the production of factor XII with increased activity. As a result, more bradykinin is generated and blood vessel walls become more leaky, which leads to episodes of swelling in people with hereditary angioedema type III. The cause of other cases of hereditary angioedema type III remains unknown. Mutations in one or more as-yet unidentified genes may be responsible for the disorder in these cases.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Ectopic Kidney ?"}, {"role": "assistant", "content": "A health care provider may use one or more of the following imaging tests to diagnose an ectopic kidney:\n \n- Ultrasound. An ultrasound uses a device, called a transducer, that bounces safe, painless sound waves off organs to create an image of their structure. The procedure is performed in a health care providers office, outpatient center, or hospital by a specially trained technician, and the images are interpreted by a radiologista doctor who specializes in medical imaging; anesthesia is not needed. The images can show the location of the kidneys. - Intravenous pyelogram (IVP). An IVP is an x ray of the urinary tract. A special dye, called contrast medium, is injected into a vein in the persons arm, travels through the body to the kidneys, and makes urine visible on the x ray. The procedure is performed in a health care providers office, outpatient center, or hospital by an x-ray technician, and the images are interpreted by a radiologist; anesthesia is not needed. An IVP can show a blockage in the urinary tract. In children, ultrasounds are usually done instead of IVPs. - Voiding cystourethrogram (VCUG). A VCUG is an x-ray image of the bladder and urethra taken while the bladder is full and during urination, also called voiding. The bladder and urethra are filled with contrast medium to make the structures clearly visible on the x-ray images. The x-ray machine captures images of the contrast medium while the bladder is full and when the person urinates. The procedure is performed in a health care providers office, outpatient center, or hospital by an x-ray technician supervised by a radiologist, who then interprets the images. Anesthesia is not needed, but sedation may be used for some people. The test can show abnormalities of the inside of the urethra and bladder and whether urine is backing up toward the kidneys during urination. - Radionuclide scan. A radionuclide scan is an imaging technique that relies on the detection of small amounts of radiation after injection of radioactive chemicals. Because the dose of the radioactive chemicals is small, the risk of causing damage to cells is low. Special cameras and computers are used to create images of the radioactive chemicals as they pass through the kidneys. The procedure is performed in a health care providers office, outpatient center, or hospital by a specially trained technician, and the images are interpreted by a radiologist; anesthesia is not needed. This test can show the location of an ectopic kidney and whether the ureters are blocked. - Magnetic resonance imaging (MRI). MRI machines use radio waves and magnets to produce detailed pictures of the bodys internal organs and soft tissues without using x rays. An MRI may include the injection of contrast medium. With most MRI machines, the person lies on a table that slides into a tunnel-shaped device that may be open ended or closed at one end; some newer machines are designed to allow the person to lie in a more open space. The procedure is performed in an outpatient center or hospital by a specially trained technician, and the images are interpreted by a radiologist; anesthesia is not needed though light sedation may be used for people with a fear of confined spaces. MRIs can show the location of the kidneys.\n \nIn addition to imaging tests, blood tests may be done to determine how well the kidneys are working. These tests are almost always normal in people with an ectopic kidney, even if it is badly damaged, because the other kidney usually has completely normal function.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by carnitine-acylcarnitine translocase deficiency ?"}, {"role": "assistant", "content": "CACT deficiency is very rare; at least 30 cases have been reported.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Bronchiolitis obliterans organizing pneumonia ?"}, {"role": "assistant", "content": "What causes bronchiolitis obliterans organizing pneumonia (BOOP)? BOOP may be caused by a variety of factors, including viral infections, inhalation of toxic gases, drugs, connective tissue disorders, radiation therapy, cocaine, inflammatory bowl disease, and HIV infection. In many cases, the underlying cause of BOOP is unknown. These cases are called idiopathic BOOP or cryptogenic organizing pneumonia (COP).", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Waldenstrm macroglobulinemia ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of Waldenstrm macroglobulinemia: - American Cancer Society: How is Waldenstrom Macroglobulinemia Diagnosed? - American Cancer Society: How is Waldenstrom Macroglobulinemia Treated? - Genetic Testing Registry: Waldenstrom macroglobulinemia - MD Anderson Cancer Center - MedlinePlus Encyclopedia: Macroglobulinemia of Waldenstrom These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Osteogenesis imperfecta type I ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Osteogenesis imperfecta type I? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteogenesis imperfecta type I. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Dentinogenesis imperfecta 5% Aortic dilatation - Autosomal dominant inheritance - Biconcave flattened vertebrae - Blue sclerae - Bruising susceptibility - Femoral bowing - Growth abnormality - Hearing impairment - Increased susceptibility to fractures - Joint hypermobility - Mitral valve prolapse - Osteopenia - Otosclerosis - Recurrent fractures - Thin skin - Wormian bones - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the stages of Childhood Central Nervous System Atypical Teratoid/Rhabdoid Tumor ?"}, {"role": "assistant", "content": "Key Points\n - There is no standard staging system for central nervous system atypical teratoid/rhabdoid tumor.\n \n \n There is no standard staging system for central nervous system atypical teratoid/rhabdoid tumor.\n The extent or spread of cancer is usually described as stages. There is no standard staging system for central nervous system atypical teratoid/rhabdoid tumor. For treatment, this tumor is grouped as newly diagnosed or recurrent. Treatment depends on the following: - The age of the child. - How much cancer remains after surgery to remove the tumor. Results from the following procedure are also used to plan treatment: - Ultrasound exam: A procedure in which high-energy sound waves (ultrasound) are bounced off internal tissues or organs, such as the kidney, and make echoes. The echoes form a picture of body tissues called a sonogram. The picture can be printed to be looked at later. This procedure is done to check for tumors that may also have formed in the kidney.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is the outlook for Nasopharyngeal Cancer ?"}, {"role": "assistant", "content": "Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - The stage of the cancer (whether it affects part of the nasopharynx, involves the whole nasopharynx, or has spread to other places in the body). - The type of nasopharyngeal cancer. - The size of the tumor. - The patients age and general health.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to Williams syndrome ?"}, {"role": "assistant", "content": "Williams syndrome is caused by the deletion of genetic material from a specific region of chromosome 7. The deleted region includes 26 to 28 genes, and researchers believe that a loss of several of these genes probably contributes to the characteristic features of this disorder. CLIP2, ELN, GTF2I, GTF2IRD1, and LIMK1 are among the genes that are typically deleted in people with Williams syndrome. Researchers have found that loss of the ELN gene is associated with the connective tissue abnormalities and cardiovascular disease (specifically supravalvular aortic stenosis) found in many people with this disease. Studies suggest that deletion of CLIP2, GTF2I, GTF2IRD1, LIMK1, and perhaps other genes may help explain the characteristic difficulties with visual-spatial tasks, unique behavioral characteristics, and other cognitive difficulties seen in people with Williams syndrome. Loss of the GTF2IRD1 gene may also contribute to the distinctive facial features often associated with this condition. Researchers believe that the presence or absence of the NCF1 gene on chromosome 7 is related to the risk of developing hypertension in people with Williams syndrome. When the NCF1 gene is included in the part of the chromosome that is deleted, affected individuals are less likely to develop hypertension. Therefore, the loss of this gene appears to be a protective factor. People with Williams syndrome whose NCF1 gene is not deleted have a higher risk of developing hypertension. The relationship between other genes in the deleted region of chromosome 7 and the signs and symptoms of Williams syndrome is under investigation or unknown.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Hallermann-Streiff syndrome inherited ?"}, {"role": "assistant", "content": "How is Hallermann-Streiff syndrome inherited? The majority of cases of Hallermann-Streiff syndrome appear to be sporadic (occurring in individuals with no history of the condition in the family). There have been reports of affected individuals having multiple, unaffected children. Although some have reported it appears to be inherited in an autosomal recessive manner in a small number of cases, others have argued that there is little evidence for this being a recessively inherited disorder. Therefore, the mode of inheritance of the condition remains unclear.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Coats disease ?"}, {"role": "assistant", "content": "Coats disease is an eye disorder characterized by abnormal development of the blood vessels in the retina (retinal telangiectasia). Most affected people begin showing symptoms of the condition in childhood. Early signs and symptoms vary but may include vision loss, crossed eyes (strabismus), and a white mass in the pupil behind the lens of the eye (leukocoria). Overtime, coats disease may also lead to retinal detachment, glaucoma, and clouding of the lens of the eye (cataracts) as the disease progresses. In most cases, only one eye is affected (unilateral). The exact underlying cause is not known but some cases may be due to somatic mutations in the NDP gene. Treatment depends on the symptoms present and may include cryotherapy, laser therapy, and/or surgery.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Do you have information about Surgery"}, {"role": "assistant", "content": "Summary : There are many reasons to have surgery. Some operations can relieve or prevent pain. Others can reduce a symptom of a problem or improve some body function. Some surgeries are done to find a problem. For example, a surgeon may do a biopsy, which involves removing a piece of tissue to examine under a microscope. Some surgeries, like heart surgery, can save your life. Some operations that once needed large incisions (cuts in the body) can now be done using much smaller cuts. This is called laparoscopic surgery. Surgeons insert a thin tube with a camera to see, and use small tools to do the surgery. After surgery there can be a risk of complications, including infection, too much bleeding, reaction to anesthesia, or accidental injury. There is almost always some pain with surgery. Agency for Healthcare Research and Quality", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Lesch Nyhan syndrome inherited ?"}, {"role": "assistant", "content": "How is Lesch Nyhan syndrome inherited? Lesch Nyhan syndrome is inherited in an X-linked recessive manner. A condition is X-linked if the changed (mutated) gene responsible for the condition is located on the X chromosome. The X chromosome is one of the two sex chromosomes; females have two X chromosomes, and males have one X and one Y chromosome. Females who have one mutated copy of the responsible gene (on one of their X chromosomes) usually do not have the condition and are referred to as carriers. This is because they still have a working copy of the responsible gene on their other X chromosome. Males with one mutated copy of the responsible gene have signs and symptoms of the condition (they are affected) because they do not have another X chromosome with a working copy of the gene. This is why X-linked recessive disorders, including Lesch Nyhan syndrome, occur much more frequently in males. Lesch Nyhan syndrome is caused by mutations in the HPRT1 gene. A female who is a carrier of Lesch Nyhan syndrome has a 50% chance of passing on the mutated HPRT1 gene in each pregnancy. This is because a carrier female will randomly pass on one of her X chromosome to each child. Sons who inherit the mutated gene will be affected, and daughters who inherit the mutated gene will be carriers. This means that with each pregnancy, a female who is a carrier has a: 50% (1 in 2) chance of having an unaffected son or daughter 25% (1 in 4) chance of having an affected son 25% chance of having a carrier daughter", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Who is at risk for Cough? ?"}, {"role": "assistant", "content": "People at risk for cough include those who:\n \nAre exposed to things that irritate their airways (called irritants) or things that they're allergic to (called allergens). Examples of irritants are cigarette smoke, air pollution, paint fumes, and scented products. Examples of allergens are dust, animal dander, mold, and pollens from trees, grasses, and flowers.\n \nHave certain conditions that irritate the lungs, such as asthma, sinus infections, colds, or gastroesophageal reflux disease.\n \nSmoke. Smoking can irritate your lungs and cause coughing. Smoking and/or exposure to secondhand smoke also can lead to medical conditions that can cause a cough.\n \nTake certain medicines, such as ACE inhibitors and beta blockers. ACE inhibitors are used to treat high blood pressure (HBP). Beta blockers are used to treat HBP, migraine headaches, and glaucoma.\n \nWomen are more likely than men to develop a chronic cough. For more information about the substances and conditions that put you at risk for cough, go to \"What Causes Cough?\"", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "what research (or clinical trials) is being done for Multiple System Atrophy with Orthostatic Hypotension ?"}, {"role": "assistant", "content": "The NINDS supports research on disorders of the autonomic nervous system, including multiple system atrophy with orthostatic hypotension. This research is aimed at developing techniques to diagnose, treat, and prevent these disorders. Currently there are ongoing treatment trials of drugs to treat MSA.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Parasites - Scabies ?"}, {"role": "assistant", "content": "Scabies is an infestation of the skin by the human itch mite (Sarcoptes scabiei var. hominis). The microscopic scabies mite burrows into the upper layer of the skin where it lives and lays its eggs. The most common symptoms of scabies are intense itching and a pimple-like skin rash. The scabies mite usually is spread by direct, prolonged, skin-to-skin contact with a person who has scabies.\nScabies is found worldwide and affects people of all races and social classes. Scabies can spread rapidly under crowded conditions where close body and skin contact is frequent. Institutions such as nursing homes, extended-care facilities, and prisons are often sites of scabies outbreaks. Child care facilities also are a common site of scabies infestations.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids ?"}, {"role": "assistant", "content": "How might CLIPPERS be treated? The signs and symptoms of CLIPPERS typically improve after treatment with steroids. Initial treatment may involve a short course of high dose steroids given intravenously, and then oral steroids. Many patients experience a relapse when steroids are tapered off, so it is usually necessary to continue treatment that suppresses the immune system. Long term treatment may include a low dose of oral steroids and another type of immune suppressant, such as methotrexate or rituximab. Because there have been very few patients with CLIPPERS reported in medical journals, the best course of treatment has not yet been determined.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Valinemia ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Valinemia? Valinemia is thought to be extremely rare and has been described in only a few people. The condition is reportedly present from birth. Symptoms in the newborn period include lack of appetite, protein intolerance, metabolic acidosis, frequent vomiting, failure to thrive, and/or coma. The condition can become life-threatening. Abnormally low muscle tone (hypotonia); hyperkinesia; hyperactivity; excessive drowsiness; and delayed mental and physical development have also been reported. The Human Phenotype Ontology provides the following list of signs and symptoms for Valinemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Drowsiness - Failure to thrive - Hyperkinesis - Hypervalinemia - Muscle weakness - Vomiting - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Hereditary leiomyomatosis and renal cell cancer ?"}, {"role": "assistant", "content": "What causes hereditary leiomyomatosis and renal cell cancer? Hereditary leiomyomatosis and renal cell cancer (HLRCC) is caused by changes (mutations) in the FH gene. This gene gives the body instructions for making an enzyme called fumarase which is needed for a series of reactions that lets cells use oxygen and energy (the citric acid cycle, or Krebs cycle). People with HLRCC are born with one mutated copy of the FH gene in each cell. The second copy of the gene in some cells can mutate later on from factors in the environment, such as radiation from the sun or an error during cell division. A mutation can interfere with fumarase's role in the citric acid cycle, which may affect the regulation of oxygen levels in cells. Long-term oxygen deficiency in cells with two mutated copies of the FH gene may contribute to tumors growth and the tendency to develop leiomyomas and/or renal cell cancer.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is familial cylindromatosis inherited ?"}, {"role": "assistant", "content": "Susceptibility to familial cylindromatosis has an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell increases the risk of developing this condition. However, a second, non-inherited mutation is required for development of skin appendage tumors in this disorder.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Meige disease ?"}, {"role": "assistant", "content": "Meige disease is a condition that affects the normal function of the lymphatic system. The lymphatic system consists of a network of vessels that transport lymphatic fluid and immune cells throughout the body. Meige disease is characterized by the abnormal transport of lymphatic fluid. When this fluid builds up abnormally, it causes swelling (lymphedema) in the lower limbs. Meige disease is classified as a primary lymphedema, which means it is a form of lymphedema that is not caused by other health conditions. In Meige disease, the lymphatic system abnormalities are present from birth (congenital), although the swelling is not usually apparent until puberty. The swelling often begins in the feet and ankles and progresses up the legs to the knees. Some affected individuals develop non-contagious skin infections called cellulitis or erysipelas in the legs, which can further damage the vessels that carry lymphatic fluid.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Schizencephaly ?"}, {"role": "assistant", "content": "Treatment generally consists of physical therapy and drugs to prevent seizures. In cases that are complicated by hydrocephalus, a surgically implanted tube, called a shunt, is often used to divert fluid to another area of the body where it can be absorbed.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by core binding factor acute myeloid leukemia ?"}, {"role": "assistant", "content": "Acute myeloid leukemia occurs in approximately 3.5 per 100,000 individuals each year. CBF-AML accounts for 12 to 15 percent of acute myeloid leukemia cases in adults.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) isolated growth hormone deficiency ?"}, {"role": "assistant", "content": "Isolated growth hormone deficiency is a condition caused by a severe shortage or absence of growth hormone. Growth hormone is a protein that is necessary for the normal growth of the body's bones and tissues. Because they do not have enough of this hormone, people with isolated growth hormone deficiency commonly experience a failure to grow at the expected rate and have unusually short stature. This condition is usually apparent by early childhood. There are four types of isolated growth hormone deficiency differentiated by the severity of the condition, the gene involved, and the inheritance pattern. Isolated growth hormone deficiency type IA is caused by an absence of growth hormone and is the most severe of all the types. In people with type IA, growth failure is evident in infancy as affected babies are shorter than normal at birth. People with isolated growth hormone deficiency type IB produce very low levels of growth hormone. As a result, type IB is characterized by short stature, but this growth failure is typically not as severe as in type IA. Growth failure in people with type IB is usually apparent in early to mid-childhood. Individuals with isolated growth hormone deficiency type II have very low levels of growth hormone and short stature that varies in severity. Growth failure in these individuals is usually evident in early to mid-childhood. It is estimated that nearly half of the individuals with type II have underdevelopment of the pituitary gland (pituitary hypoplasia). The pituitary gland is located at the base of the brain and produces many hormones, including growth hormone. Isolated growth hormone deficiency type III is similar to type II in that affected individuals have very low levels of growth hormone and short stature that varies in severity. Growth failure in type III is usually evident in early to mid-childhood. People with type III may also have a weakened immune system and are prone to frequent infections. They produce very few B cells, which are specialized white blood cells that help protect the body against infection (agammaglobulinemia).", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Familial hypercholesterolemia ?"}, {"role": "assistant", "content": "Familial hypercholesterolemia is a condition characterized by very high levels of cholesterol in the blood due to mutations in the LDLR gene. People with hypercholesterolemia have a high risk of developing a form of heart disease called coronary artery disease, as well as health problems related to the buildup of excess cholesterol in other tissues (e.g., in the tendons and skin). Familial hypercholesterolemia tends to be passed through families in an autosomal dominant fashion. There are other hereditary forms of hypercholesterolemia caused by mutations in the APOB, LDLRAP1, or PCSK9 gene. However, most cases of high cholesterol are not caused by a single inherited condition, but result from a combination of lifestyle choices and the effects of variations in many genes.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Polymyositis ?"}, {"role": "assistant", "content": "Polymyositis is one of a group of muscle diseases known as the inflammatory myopathies, which are characterized by chronic muscle inflammation accompanied by muscle weakness. Polymyositis affects skeletal muscles (those involved with making movement) on both sides of the body. It is rarely seen in persons under age 18; most cases are in adults between the ages of 31 and 60. Progressive muscle weakness starts in the proximal muscles (muscles closest to the trunk of the body) which eventually leads to difficulties climbing stairs, rising from a seated position, lifting objects, or reaching overhead. People with polymyositis may also experience arthritis, shortness of breath, difficulty swallowing and speaking, and heart arrhythmias. In some cases of polymyositis, distal muscles (muscles further away from the trunk of the body, such as those in the forearms and around the ankles and wrists) may be affected as the disease progresses. Polymyositis may be associated with collagen-vascular or autoimmune diseases, such as lupus. Polymyositis may also be associated with infectious disorders, such as HIV-AIDS.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is amelogenesis imperfecta inherited ?"}, {"role": "assistant", "content": "Amelogenesis imperfecta can have different inheritance patterns depending on the gene that is altered. Many cases are caused by mutations in the FAM83H gene and are inherited in an autosomal dominant pattern. This type of inheritance means one copy of the altered gene in each cell is sufficient to cause the disorder. Some cases caused by mutations in the ENAM gene also have an autosomal dominant inheritance pattern. Amelogenesis imperfecta can also be inherited in an autosomal recessive pattern; this form of the disorder can result from mutations in the ENAM or MMP20 gene. Autosomal recessive inheritance means two copies of the gene in each cell are altered. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. About 5 percent of amelogenesis imperfecta cases are caused by mutations in the AMELX gene and are inherited in an X-linked pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. In most cases, males with X-linked amelogenesis imperfecta experience more severe dental abnormalities than females with this form of this condition. Other cases of amelogenesis imperfecta result from new gene mutations and occur in people with no history of the disorder in their family.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to phosphoglycerate dehydrogenase deficiency ?"}, {"role": "assistant", "content": "Mutations in the PHGDH gene cause phosphoglycerate dehydrogenase deficiency. The PHGDH gene provides instructions for making the parts (subunits) that make up the phosphoglycerate dehydrogenase enzyme. Four PHGDH subunits combine to form the enzyme. This enzyme is involved in the production of the protein building block (amino acid) serine. Specifically, the enzyme converts a substance called 3-phosphoglycerate to 3-phosphohydroxypyruvate in the first step in serine production. Serine is necessary for the development and function of the brain and spinal cord (central nervous system). Serine is a part of chemical messengers called neurotransmitters that transmit signals in the nervous system. Proteins that form cell membranes and myelin also contain serine. Serine can be obtained from the diet, but brain cells must produce their own serine because dietary serine cannot cross the protective barrier that allows only certain substances to pass between blood vessels and the brain (the blood-brain barrier). PHGDH gene mutations result in the production of an enzyme with decreased function. As a result, less 3-phosphoglycerate is converted into 3-phosphohydroxypyruvate than normal and serine production is stalled at the first step. The lack of serine likely prevents the production of proteins and neurotransmitters in the brain and impairs the formation of normal cells and myelin. These disruptions in normal brain development lead to the signs and symptoms of phosphoglycerate dehydrogenase deficiency.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What to do for Ectopic Kidney ?"}, {"role": "assistant", "content": "Eating, diet, and nutrition have not been shown to play a role in causing or preventing an ectopic kidney.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Traumatic Brain Injury ?"}, {"role": "assistant", "content": "Anyone with signs of moderate or severe TBI should receive medical attention as soon as possible. Because little can be done to reverse the initial brain damage caused by trauma, medical personnel try to stabilize an individual with TBI and focus on preventing further injury. Primary concerns include insuring proper oxygen supply to the brain and the rest of the body, maintaining adequate blood flow, and controlling blood pressure. Imaging tests help in determining the diagnosis and prognosis of a TBI patient. Patients with mild to moderate injuries may receive skull and neck X-rays to check for bone fractures or spinal instability. For moderate to severe cases, the imaging test is a computed tomography (CT) scan. Moderately to severely injured patients receive rehabilitation that involves individually tailored treatment programs in the areas of physical therapy, occupational therapy, speech/language therapy, physiatry (physical medicine), psychology/psychiatry, and social support.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Inguinal Hernia ?"}, {"role": "assistant", "content": "The first sign of an inguinal hernia is a small bulge on one or, rarely, on both sides of the grointhe area just above the groin crease between the lower abdomen and the thigh. The bulge may increase in size over time and usually disappears when lying down.\n \nOther signs and symptoms can include\n \n- discomfort or pain in the groinespecially when straining, lifting, coughing, or exercisingthat improves when resting - feelings such as weakness, heaviness, burning, or aching in the groin - a swollen or an enlarged scrotum in men or boys\n \nIndirect and direct inguinal hernias may slide in and out of the abdomen into the inguinal canal. A health care provider can often move them back into the abdomen with gentle massage.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Creating a Family Health History ?"}, {"role": "assistant", "content": "Yes. Diet, weight, physical activity, tobacco and alcohol use, occupation, and where you live can each increase or decrease disease risk. For example, smoking increases the chance of developing heart disease and cancer. Sun exposure is the major known environmental factor associated with the development of skin cancer of all types. However, other environmental and genetic factors can also increase a persons risk. The best defense against skin cancer is to encourage sun-protective behaviors, regular skin examinations, and skin self-awareness in an effort to decrease high-risk behaviors and optimize early detection of problems. Learn more about the causes and risk factors for skin cancer.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Do you have information about Exercise for Seniors"}, {"role": "assistant", "content": "Summary : Exercise and physical activity are good for just about everyone, including older adults. There are four main types and each type is different. Doing them all will give you more benefits. - Endurance, or aerobic, activities increase your breathing and heart rate. Brisk walking or jogging, dancing, swimming, and biking are examples. - Strength exercises make your muscles stronger. Lifting weights or using a resistance band can build strength. - Balance exercises help prevent falls - Flexibility exercises stretch your muscles and can help your body stay limber NIH: National Institute on Aging", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for asphyxiating thoracic dystrophy ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of asphyxiating thoracic dystrophy: - Genetic Testing Registry: Asphyxiating thoracic dystrophy 2 - Genetic Testing Registry: Asphyxiating thoracic dystrophy 4 - Genetic Testing Registry: Asphyxiating thoracic dystrophy 5 - Genetic Testing Registry: Jeune thoracic dystrophy - Genetic Testing Registry: Short-rib thoracic dysplasia 1 with or without polydactyly - Jeune's Center at Nationwide Children's Hospital - MedlinePlus Encyclopedia: Chronic Renal Failure - MedlinePlus Encyclopedia: Polydactyly These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Klinefelter syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Klinefelter syndrome? The signs and symptoms of Klinefelter syndrome (KS) vary among affected people. Some men with KS have no symptoms of the condition or are only mildy affected. In these cases, they may not even know that they are affected by KS. When present, symptoms may include: Small, firm testicles Delayed or incomplete puberty Breast growth (gynecomastia) Reduced facial and body hair Infertility Tall height Abnormal body proportions (long legs, short trunk, shoulder equal to hip size) Learning disablity Speech delay Whether or not a male with KS has visible symptoms depends on many factors, including how much testosterone his body makes, if he is mosaic (with both XY and XXY cells), and his age when the condition is diagnosed and treated. The Human Phenotype Ontology provides the following list of signs and symptoms for Klinefelter syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of chromosome segregation 90% Decreased fertility 90% Disproportionate tall stature 90% Neurological speech impairment 90% Abnormal hair quantity 50% Abnormality of movement 50% Clinodactyly of the 5th finger 50% Cryptorchidism 50% Eunuchoid habitus 50% Hypoplasia of penis 50% Long face 50% Mandibular prognathia 50% Obesity 50% Reduced bone mineral density 50% Scoliosis 50% Single transverse palmar crease 50% Venous insufficiency 50% Abnormality of calvarial morphology 7.5% Abnormality of the mitral valve 7.5% Neoplasm 7.5% Type II diabetes mellitus 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to complement factor I deficiency ?"}, {"role": "assistant", "content": "Complement factor I deficiency is caused by mutations in the CFI gene. This gene provides instructions for making a protein called complement factor I. This protein helps regulate a part of the body's immune response known as the complement system. The complement system is a group of proteins that work together to destroy foreign invaders (such as bacteria and viruses), trigger inflammation, and remove debris from cells and tissues. This system must be carefully regulated so it targets only unwanted materials and does not attack the body's healthy cells. Complement factor I and several related proteins protect healthy cells by preventing activation of the complement system when it is not needed. Mutations in the CFI gene that cause complement factor I deficiency result in abnormal, nonfunctional, or absent complement factor I. The lack (deficiency) of functional complement factor I protein allows uncontrolled activation of the complement system. The unregulated activity of the complement system decreases blood levels of another complement protein called C3, reducing the immune system's ability to fight infections. In addition, the immune system may malfunction and attack its own tissues, resulting in autoimmune disorders.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for spinocerebellar ataxia type 3 ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of SCA3: - Gene Review: Gene Review: Spinocerebellar Ataxia Type 3 - Genetic Testing Registry: Azorean disease These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Glucose transporter type 1 deficiency syndrome ?"}, {"role": "assistant", "content": "What causes glucose transporter type 1 deficiency syndrome? Glucose transporter type 1 deficiency syndrome (GLUT1 deficiency syndrome) is caused by changes (mutations) in the SLC2A1 gene. This gene encodes a protein that helps transport glucose (a simple sugar) into cells where it is used as fuel. The protein is particularly important in the central nervous system since glucose is the brain's main source of energy. SLC2A1 mutations impair the function of the protein. This significantly reduces the amount of glucose available to brain cells leading to the many signs and symptoms associated with GLUT1 deficiency syndrome.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Who is at risk for Anxiety Disorders? ?"}, {"role": "assistant", "content": "Generalized anxiety disorder (GAD) affects about 6.8 million American adults, including twice as many women as men. The disorder develops gradually and can begin at any point in the life cycle, although the years of highest risk are between childhood and middle age. The average age of onset is 31 years old. Social phobia affects about 15 million American adults. Women and men are equally likely to develop the disorder, which usually begins in childhood or early adolescence. There is some evidence that genetic factors are involved. Panic disorder affects about 6 million American adults and is twice as common in women as men. Panic attacks often begin in late adolescence or early adulthood, but not everyone who experiences panic attacks will develop panic disorder. Many people have just one attack and never have another. The tendency to develop panic attacks appears to be inherited.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Tay-Sachs disease ?"}, {"role": "assistant", "content": "What causes Tay-Sachs disease? Tay-Sachs disease is caused by mutations in the HEXA gene. The HEXA gene provides instructions for making part of an enzyme called beta-hexosaminidase A, which plays a critical role in the brain and spinal cord. This enzyme is located in lysosomes, which are structures in cells that break down toxic substances and act as recycling centers. Within lysosomes, beta-hexosaminidase A helps break down a fatty substance called GM2 ganglioside. Mutations in the HEXA gene disrupt the activity of beta-hexosaminidase A, which prevents the enzyme from breaking down GM2 ganglioside. As a result, this substance accumulates to toxic levels, particularly in neurons in the brain and spinal cord. Progressive damage caused by the buildup of GM2 ganglioside leads to the destruction of these neurons, which causes the signs and symptoms seen in Tay-Sachs disease,", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Spinocerebellar ataxia 40 ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Spinocerebellar ataxia 40? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 40. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Broad-based gait - Dysarthria - Dysdiadochokinesis - Hyperreflexia - Intention tremor - Pontocerebellar atrophy - Spastic paraparesis - Unsteady gait - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Skin Cancer ?"}, {"role": "assistant", "content": "Skin cancer is the most common form of cancer in the United States. The two most common types are basal cell cancer and squamous cell cancer. They usually form on the head, face, neck, hands, and arms. Another type of skin cancer, melanoma, is more dangerous but less common. Anyone can get skin cancer, but it is more common in people who - Spend a lot of time in the sun or have been sunburned - Have light-colored skin, hair and eyes - Have a family member with skin cancer - Are over age 50 You should have your doctor check any suspicious skin markings and any changes in the way your skin looks. Treatment is more likely to work well when cancer is found early. If not treated, some types of skin cancer cells can spread to other tissues and organs. Treatments include surgery, radiation therapy, chemotherapy, photodynamic therapy (PDT), and biologic therapy. PDT uses a drug and a type of laser light to kill cancer cells. Biologic therapy boosts your body's own ability to fight cancer. NIH: National Cancer Institute", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to alternating hemiplegia of childhood ?"}, {"role": "assistant", "content": "Alternating hemiplegia of childhood is primarily caused by mutations in the ATP1A3 gene. Very rarely, a mutation in the ATP1A2 gene is involved in the condition. These genes provide instructions for making very similar proteins. They function as different forms of one piece, the alpha subunit, of a larger protein complex called Na+/K+ ATPase; the two versions of the complex are found in different parts of the brain. Both versions play a critical role in the normal function of nerve cells (neurons). Na+/K+ ATPase transports charged atoms (ions) into and out of neurons, which is an essential part of the signaling process that controls muscle movement. Mutations in the ATP1A3 or ATP1A2 gene reduce the activity of the Na+/K+ ATPase, impairing its ability to transport ions normally. It is unclear how a malfunctioning Na+/K+ ATPase causes the episodes of paralysis or uncontrollable movements characteristic of alternating hemiplegia of childhood.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by T-cell immunodeficiency, congenital alopecia, and nail dystrophy ?"}, {"role": "assistant", "content": "T-cell immunodeficiency, congenital alopecia, and nail dystrophy is a rare disorder. It has been diagnosed in only a few individuals, almost all of whom are members of a large extended family from a community in southern Italy.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is C3 glomerulopathy inherited ?"}, {"role": "assistant", "content": "Most cases of C3 glomerulopathy are sporadic, which means they occur in people with no history of the disorder in their family. Only a few reported families have had more than one family member with C3 glomerulopathy. However, many affected people have had close relatives with autoimmune diseases, which occur when the immune system malfunctions and attacks the body's tissues and organs. The connection between C3 glomerulopathy and autoimmune diseases is not fully understood.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to mucolipidosis III gamma ?"}, {"role": "assistant", "content": "Mutations in the GNPTG gene cause mucolipidosis III gamma. This gene provides instructions for making one part (subunit) of an enzyme called GlcNAc-1-phosphotransferase. This enzyme helps prepare certain newly made enzymes for transport to lysosomes. Lysosomes are compartments within the cell that use digestive enzymes to break down large molecules into smaller ones that can be reused by cells. GlcNAc-1-phosphotransferase is involved in the process of attaching a molecule called mannose-6-phosphate (M6P) to specific digestive enzymes. Just as luggage is tagged at the airport to direct it to the correct destination, enzymes are often \"tagged\" after they are made so they get to where they are needed in the cell. M6P acts as a tag that indicates a digestive enzyme should be transported to the lysosome. Mutations in the GNPTG gene that cause mucolipidosis III gamma result in reduced activity of GlcNAc-1-phosphotransferase. These mutations disrupt the tagging of digestive enzymes with M6P, which prevents many enzymes from reaching the lysosomes. Digestive enzymes that do not receive the M6P tag end up outside the cell, where they have increased activity. The shortage of digestive enzymes within lysosomes causes large molecules to accumulate there. Conditions that cause molecules to build up inside lysosomes, including mucolipidosis III gamma, are called lysosomal storage disorders. The signs and symptoms of mucolipidosis III gamma are most likely due to the shortage of digestive enzymes inside lysosomes and the effects these enzymes have outside the cell.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Compulsive Gambling ?"}, {"role": "assistant", "content": "Many people enjoy gambling, whether it's betting on a horse or playing poker on the Internet. Most people who gamble don't have a problem, but some lose control of their gambling. Signs of problem gambling include - Always thinking about gambling - Lying about gambling - Spending work or family time gambling - Feeling bad after you gamble, but not quitting - Gambling with money you need for other things If you have concerns about your gambling, ask for help. Your health care provider can work with you to find the treatment that's best for you. NIH: National Institutes of Health", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Chromosome 1q41-q42 deletion syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Chromosome 1q41-q42 deletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Chromosome 1q41-q42 deletion syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anteverted nares - Autosomal dominant inheritance - Cleft palate - Cleft upper lip - Coarse facial features - Congenital diaphragmatic hernia - Cryptorchidism - Deeply set eye - Depressed nasal bridge - Frontal bossing - Holoprosencephaly - Hypotelorism - Intellectual disability - Microcephaly - Microphthalmia - Microtia - Phenotypic variability - Preauricular skin tag - Seizures - Short stature - Talipes equinovarus - Upslanted palpebral fissure - Vertebral segmentation defect - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Latex Allergy ?"}, {"role": "assistant", "content": "Latex is a milky fluid that comes from the tropical rubber tree. Hundreds of everyday products contain latex. Repeated exposure to a protein in natural latex can make you more likely to develop a latex allergy. If your immune system detects the protein, a reaction can start in minutes. You could get a rash or asthma. In rare cases you could have a severe reaction called anaphylaxis. Your doctor may use a physical exam and skin and blood tests to diagnose it. There are medicines to treat a reaction, but it is best to try to avoid latex. Common latex products include - Gloves - Condoms - Balloons - Rubber bands - Shoe soles - Pacifiers You can find latex-free versions of these products.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Chronic Myelogenous Leukemia ?"}, {"role": "assistant", "content": "Key Points\n - Chronic myelogenous leukemia is a disease in which the bone marrow makes too many white blood cells. - Leukemia may affect red blood cells, white blood cells, and platelets. - Signs and symptoms of chronic myelogenous leukemia include fever, night sweats, and tiredness. - Most people with CML have a gene mutation (change) called the Philadelphia chromosome. - Tests that examine the blood and bone marrow are used to detect (find) and diagnose chronic myelogenous leukemia. - Certain factors affect prognosis (chance of recovery) and treatment options.\n \n \n Chronic myelogenous leukemia is a disease in which the bone marrow makes too many white blood cells.\n Chronic myelogenous leukemia (also called CML or chronic granulocytic leukemia) is a slowly progressing blood and bone marrow disease that usually occurs during or after middle age, and rarely occurs in children.\n \n \n Leukemia may affect red blood cells, white blood cells, and platelets.\n Normally, the bone marrow makes blood stem cells (immature cells) that become mature blood cells over time. A blood stem cell may become a myeloid stem cell or a lymphoid stem cell. A lymphoid stem cell becomes a white blood cell. A myeloid stem cell becomes one of three types of mature blood cells: - Red blood cells that carry oxygen and other substances to all tissues of the body. - Platelets that form blood clots to stop bleeding. - Granulocytes (white blood cells) that fight infection and disease. In CML, too many blood stem cells become a type of white blood cell called granulocytes. These granulocytes are abnormal and do not become healthy white blood cells. They are also called leukemia cells. The leukemia cells can build up in the blood and bone marrow so there is less room for healthy white blood cells, red blood cells, and platelets. When this happens, infection, anemia, or easy bleeding may occur. This summary is about chronic myelogenous leukemia. See the following PDQ summaries for more information about leukemia: - Adult Acute Lymphoblastic Leukemia Treatment - Childhood Acute Lymphoblastic Leukemia Treatment - Adult Acute Myeloid Leukemia Treatment - Childhood Acute Myeloid Leukemia/Other Myeloid Malignancies Treatment - Chronic Lymphocytic Leukemia Treatment - Hairy Cell Leukemia Treatment", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Polycythemia Vera ?"}, {"role": "assistant", "content": "Polycythemia vera (PV) may not cause signs or symptoms for years. The disease often is found during routine blood tests done for other reasons. If the results of your blood tests aren't normal, your doctor may want to do more tests.\n \nYour doctor will diagnose PV based on your signs and symptoms, your age and overall health, your medical history, a physical exam, and test results.\n \nDuring the physical exam, your doctor will look for signs of PV. He or she will check for an enlarged spleen, red skin on your face, and bleeding from your gums.\n \nIf your doctor confirms that you have polycythemia, the next step is to find out whether you have primary polycythemia (polycythemia vera) or secondary polycythemia.\n \nYour medical history and physical exam may confirm which type of polycythemia you have. If not, you may have tests that check the level of the hormone erythropoietin (EPO) in your blood.\n \nPeople who have PV have very low levels of EPO. People who have secondary polycythemia usually have normal or high levels of EPO.\n \nSpecialists Involved\n \nIf your primary care doctor thinks you have PV, he or she may refer you to a hematologist. A hematologist is a doctor who specializes in diagnosing and treating blood diseases and conditions.\n \nDiagnostic Tests\n \nYou may have blood tests to diagnose PV. These tests include a complete blood count (CBC) and other tests, if necessary.\n \nComplete Blood Count\n \nOften, the first test used to diagnose PV is a CBC. The CBC measures many parts of your blood.\n \nThis test checks your hemoglobin (HEE-muh-glow-bin) and hematocrit (hee-MAT-oh-crit) levels. Hemoglobin is an iron-rich protein that helps red blood cells carry oxygen from the lungs to the rest of the body. Hematocrit is a measure of how much space red blood cells take up in your blood. A high level of hemoglobin or hematocrit may be a sign of PV.\n \nThe CBC also checks the number of red blood cells, white blood cells, and platelets in your blood. Abnormal results may be a sign of PV, a blood disorder, an infection, or another condition.\n \nIn addition to high red blood cell counts, people who have PV also may have high white blood cell and/or platelet counts.\n \nOther Blood Tests\n \nBlood smear. For this test, a small sample of blood is drawn from a vein, usually in your arm. The blood sample is examined under a microscope.\n \nA blood smear can show whether you have a higher than normal number of red blood cells. The test also can show abnormal blood cells that are linked to myelofibrosis and other conditions related to PV.\n \nErythropoietin level. This blood test measures the level of EPO in your blood. EPO is a hormone that prompts your bone marrow to make new blood cells. People who have PV have very low levels of EPO. People who have secondary polycythemia usually have normal or high levels of EPO.\n \nBone Marrow Tests\n \nBone marrow tests can show whether your bone marrow is healthy. These tests also show whether your bone marrow is making normal amounts of blood cells.\n \nThe two bone marrow tests are aspiration (as-pi-RA-shun) and biopsy. For aspiration, your doctor removes a small amount of fluid bone marrow through a needle. For a biopsy, your doctor removes a small amount of bone marrow tissue through a larger needle. The samples are then examined under a microscope.\n \nIf the tests show that your bone marrow is making too many blood cells, it may be a sign that you have PV.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Hemifacial microsomia ?"}, {"role": "assistant", "content": "How might hemifacial microsomia be treated? Treatment of hemifacial microsomia varies depending on the features present and the severity in each affected person. Various types of surgeries may be needed in many cases. Some children need breathing support or a tracheostomy soon after birth if the jaw is severely affected. However in most cases, airway problems can be managed without surgery. Those with a jaw deformity and/or clefts may have feeding problems and may need supplemental feedings through a nasogastric tube to support growth and weight gain. Babies born with cleft lip or palate can have surgical repairs done during the first year. Cleft lip repair is typically performed when the child is 3-6 months old, while cleft palate surgery is generally performed when the child is about a year old. A lateral facial cleft, one of the most severe abnormalities associated with the condition, also requires reconstruction in stages. If eye closure is incomplete due to eyelid abnormalities or facial paralysis is present, a child may need eye protection or surgery. Surgery may also be used for eyelid differences to reposition the lower lids and corners of the eyes. Some children with abnormally shaped or missing ears may choose to have a series of reconstructive surgeries to make the ear appear more normal. Children with skin, cheek and other soft tissue deficiencies may need augmentation procedures such as fat grafting or tissue transfer. Severe bone abnormalities may require surgery as well. Because multiple body systems may be involved in hemifacial microsomia, affected people should continually be monitored for complications.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the complications of Primary Biliary Cirrhosis ?"}, {"role": "assistant", "content": "Most complications of primary biliary cirrhosis are related to cirrhosis and start after primary biliary cirrhosis progresses to cirrhosis. In some cases, portal hypertension and esophageal varices may develop before cirrhosis.\n \nPortal hypertension. The portal vein carries blood from the stomach, intestines, spleen, gallbladder, and pancreas to the liver. In cirrhosis, scar tissue partially blocks the normal flow of blood, which increases the pressure in the portal vein. This condition is called portal hypertension. Portal hypertension is a common complication of cirrhosis. This condition may lead to other complications, such as\n \n- edemaswelling due to a buildup of fluidin the feet, ankles, or legs, and ascitesa buildup of fluid in the abdomen - enlarged blood vessels, called varices, in the esophagus, stomach, or both - an enlarged spleen, called splenomegaly - mental confusion due to a buildup of toxins that are ordinarily removed by the liver, a condition called hepatic encephalopathy\n \nEdema and ascites. Liver failure causes fluid buildup that results in edema and ascites. Ascites can lead to spontaneous bacterial peritonitis, a serious infection that requires immediate medical attention.\n \nVarices. Portal hypertension may cause enlarged blood vessels in the esophagus, stomach, or both. These enlarged blood vessels, called esophageal or gastric varices, cause the vessel walls to become thin and blood pressure to increase, making the blood vessels more likely to burst. If they burst, serious bleeding can occur in the esophagus or upper stomach, requiring immediate medical attention.\n \nSplenomegaly. Portal hypertension may cause the spleen to enlarge and retain white blood cells and platelets, reducing the numbers of these cells and platelets in the blood. A low platelet count may be the first evidence that a person has developed cirrhosis.\n \nHepatic encephalopathy. A failing liver cannot remove toxins from the blood, so they eventually accumulate in the brain. The buildup of toxins in the brain is called hepatic encephalopathy. This condition can decrease mental function and cause stupor and even coma. Stupor is an unconscious, sleeplike state from which a person can only be aroused briefly by a strong stimulus, such as a sharp pain. Coma is an unconscious, sleeplike state from which a person cannot be aroused. Signs of decreased mental function include\n \n- confusion - personality changes - memory loss - trouble concentrating - a change in sleep habits\n \nMetabolic bone diseases. Some people with cirrhosis develop a metabolic bone disease, which is a disorder of bone strength usually caused by abnormalities of vitamin D, bone mass, bone structure, or minerals, such as calcium and phosphorous. Osteopenia is a condition in which the bones become less dense, making them weaker. When bone loss becomes more severe, the condition is referred to as osteoporosis. People with these conditions are more likely to develop bone fractures.\n \nGallstones and bile duct stones. If cirrhosis prevents bile from flowing freely to and from the gallbladder, the bile hardens into gallstones. Symptoms of gallstones include abdominal pain and recurrent bacterial cholangitisirritated or infected bile ducts. Stones may also form in and block the bile ducts, causing pain, jaundice, and bacterial cholangitis.\n \nSteatorrhea. Steatorrhea is a condition in which the body cannot absorb fat, causing a buildup of fat in the stool and loose, greasy, and foul-smelling bowel movements. Steatorrhea may be caused by impairment of bile delivery to the small intestine or by the pancreas not producing enough digestive enzymes.\n \nLiver cancer. Liver cancer is common in people with cirrhosis. Liver cancer has a high mortality rate. Current treatments are limited and only fully successful if a health care provider detects the cancer early, before the tumor is too large. For this reason, health care providers should check people with cirrhosis for signs of liver cancer every 6 to 12 months. Health care providers use blood tests, ultrasound, or both to check for signs of liver cancer.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is the outlook for Narcolepsy ?"}, {"role": "assistant", "content": "None of the currently available medications enables people with narcolepsy to consistently maintain a fully normal state of alertness. But EDS and cataplexy, the most disabling symptoms of the disorder, can be controlled in most patients with drug treatment. Often the treatment regimen is modified as symptoms change. Whatever the age of onset, patients find that the symptoms tend to get worse over the two to three decades after the first symptoms appear. Many older patients find that some daytime symptoms decrease in severity after age 60.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to cranioectodermal dysplasia ?"}, {"role": "assistant", "content": "Cranioectodermal dysplasia is caused by mutations in one of at least four genes: the WDR35, IFT122, WDR19, or IFT43 gene. The protein produced from each of these genes is one piece (subunit) of a protein complex called IFT complex A (IFT-A). This complex is found in finger-like structures called cilia that stick out from the surface of cells. These structures are important for the development and function of many types of cells and tissues. The IFT-A complex is involved in a process called intraflagellar transport, which moves substances within cilia. This movement is essential for the assembly and maintenance of these structures. The IFT-A complex carries materials from the tip to the base of cilia. Mutations in any of the four mentioned genes reduce the amount or function of one of the IFT-A subunits. Shortage or abnormal function of a single component of the IFT-A complex impairs the function of the entire complex, disrupting the assembly and maintenance of cilia. These mutations lead to a smaller number of cilia and to abnormalities in their shape and structure. Although the mechanism is unclear, a loss of normal cilia impedes proper development of bone, ectodermal tissues, and other tissues and organs, leading to the features of cranioectodermal dysplasia. About 40 percent of people with cranioectodermal dysplasia have mutations in one of the four known genes. The cause of the condition in people without mutations in one of these genes is unknown.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the stages of Lip and Oral Cavity Cancer ?"}, {"role": "assistant", "content": "Key Points\n - After lip and oral cavity cancer has been diagnosed, tests are done to find out if cancer cells have spread within the lip and oral cavity or to other parts of the body. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. - The following stages are used for lip and oral cavity cancer: - Stage 0 (Carcinoma in Situ) - Stage I - Stage II - Stage III - Stage IV\n \n \n After lip and oral cavity cancer has been diagnosed, tests are done to find out if cancer cells have spread within the lip and oral cavity or to other parts of the body.\n The process used to find out if cancer has spread within the lip and oral cavity or to other parts of the body is called staging. The information gathered from the staging process determines the stage of the disease. It is important to know the stage in order to plan treatment. The results of the tests used to diagnose lip and oral cavity cancer are also used to stage the disease. (See the General Information section.)\n \n \n There are three ways that cancer spreads in the body.\n Cancer can spread through tissue, the lymph system, and the blood: - Tissue. The cancer spreads from where it began by growing into nearby areas. - Lymph system. The cancer spreads from where it began by getting into the lymph system. The cancer travels through the lymph vessels to other parts of the body. - Blood. The cancer spreads from where it began by getting into the blood. The cancer travels through the blood vessels to other parts of the body.\n \n \n Cancer may spread from where it began to other parts of the body.\n When cancer spreads to another part of the body, it is called metastasis. Cancer cells break away from where they began (the primary tumor) and travel through the lymph system or blood. - Lymph system. The cancer gets into the lymph system, travels through the lymph vessels, and forms a tumor (metastatic tumor) in another part of the body. - Blood. The cancer gets into the blood, travels through the blood vessels, and forms a tumor (metastatic tumor) in another part of the body. The metastatic tumor is the same type of cancer as the primary tumor. For example, if lip cancer spreads to the lung, the cancer cells in the lung are actually lip cancer cells. The disease is metastatic lip cancer, not lung cancer.\n \n \n The following stages are used for lip and oral cavity cancer:\n Stage 0 (Carcinoma in Situ) In stage 0, abnormal cells are found in the lining of the lips and oral cavity. These abnormal cells may become cancer and spread into nearby normal tissue. Stage 0 is also called carcinoma in situ. Stage I In stage I, cancer has formed and the tumor is 2 centimeters or smaller. Cancer has not spread to the lymph nodes. Stage II In stage II, the tumor is larger than 2 centimeters but not larger than 4 centimeters, and cancer has not spread to the lymph nodes. Stage III In stage III, the tumor: - may be any size and has spread to one lymph node that is 3 centimeters or smaller, on the same side of the neck as the tumor; or - is larger than 4 centimeters. Stage IV Stage IV is divided into stages IVA, IVB, and IVC. - In stage IVA, the tumor: - has spread through tissue in the lip or oral cavity into nearby tissue and/or bone (jaw, tongue, floor of mouth, maxillary sinus, or skin on the chin or nose); cancer may have spread to one lymph node that is 3 centimeters or smaller, on the same side of the neck as the tumor; or - is any size or has spread through tissue in the lip or oral cavity into nearby tissue and/or bone (jaw, tongue, floor of mouth, maxillary sinus, or skin on the chin or nose), and cancer has spread: - to one lymph node on the same side of the neck as the tumor and the lymph node is larger than 3 centimeters but not larger than 6 centimeters; or - to more than one lymph node on the same side of the neck as the tumor and the lymph nodes are not larger than 6 centimeters; or - to lymph nodes on the opposite side of the neck as the tumor or on both sides of the neck, and the lymph nodes are not larger than 6 centimeters. - In stage IVB, the tumor: - may be any size and has spread to one or more lymph nodes that are larger than 6 centimeters; or - has spread further into the muscles or bones in the oral cavity, or to the base of the skull and/or the carotid artery. Cancer may have spread to one or more lymph nodes anywhere in the neck. - In stage IVC, the tumor has spread beyond the lip or oral cavity to distant parts of the body, such as the lungs. The tumor may be any size and may have spread to the lymph nodes.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Tarsal tunnel syndrome ?"}, {"role": "assistant", "content": "What symptoms are commonly seen in tarsal tunnel syndrome? The symptoms of tarsal tunnel syndrome can vary from person to person. The most common symptom of tarsal tunnel syndrome is foot and ankle pain. Individuals may also experience a burning or tingling sensation and numbness. These symptoms may occur when a person stands, walks, or wears a particular type of shoe. Pain usually worsens during walking and is relieved by rest.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Rickets ?"}, {"role": "assistant", "content": "What causes rickets? Rickets is caused by a lack of vitamin D. A child might not get enough vitamin D if he or she: Has dark skin Spends too little time outside Has on sunscreen all the time when out of doors Doesn't eat foods containing vitamin D because of lactose intolerance or a strict vegetarian diet Is breastfed without receiving vitamin D supplements Can't make or use vitamin D because of a medical disorder such as celiac disease Has an inherited disorder that affects vitamin D levels", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to Ghosal hematodiaphyseal dysplasia ?"}, {"role": "assistant", "content": "Ghosal hematodiaphyseal dysplasia results from mutations in the TBXAS1 gene. This gene provides instructions for making an enzyme called thromboxane A synthase 1, which acts as part of a chemical signaling pathway involved in normal blood clotting (hemostasis). Based on its role in Ghosal hematodiaphyseal dysplasia, researchers suspect that thromboxane A synthase 1 may also be important for bone remodeling, which is a normal process in which old bone is removed and new bone is created to replace it, and for the production of red blood cells in bone marrow. Mutations in the TBXAS1 gene severely reduce the activity of thromboxane A synthase 1. Studies suggest that a lack of this enzyme's activity may lead to abnormal bone remodeling and fibrosis of the bone marrow. However, the mechanism by which a shortage of thromboxane A synthase 1 activity leads to the particular abnormalities characteristic of Ghosal hematodiaphyseal dysplasia is unclear.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of GOSR2-related progressive myoclonus ataxia ?"}, {"role": "assistant", "content": "What are the signs and symptoms of GOSR2-related progressive myoclonus ataxia? The Human Phenotype Ontology provides the following list of signs and symptoms for GOSR2-related progressive myoclonus ataxia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Absence seizures - Areflexia - Ataxia - Atonic seizures - Autosomal recessive inheritance - Difficulty walking - Dysarthria - Elevated serum creatine phosphokinase - Myoclonus - Progressive - Scoliosis - Tremor - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Melnick-Needles syndrome ?"}, {"role": "assistant", "content": "Melnick-Needles syndrome is a disorder involving abnormalities in skeletal development and other health problems. It is a member of a group of related conditions called otopalatodigital spectrum disorders, which also includes otopalatodigital syndrome type 1, otopalatodigital syndrome type 2, and frontometaphyseal dysplasia. In general, these disorders involve hearing loss caused by malformations in the tiny bones in the ears (ossicles), problems in the development of the roof of the mouth (palate), and skeletal abnormalities involving the fingers and/or toes (digits). Melnick-Needles syndrome is usually the most severe of the otopalatodigital spectrum disorders. People with this condition are usually of short stature, have an abnormal curvature of the spine (scoliosis), partial dislocation (subluxation) of certain joints, and unusually long fingers and toes. They may have bowed limbs; underdeveloped, irregular ribs that can cause problems with breathing; and other abnormal or absent bones. Characteristic facial features may include bulging eyes with prominent brow ridges, excess hair growth on the forehead, round cheeks, a very small lower jaw and chin (micrognathia), and misaligned teeth. One side of the face may appear noticeably different from the other (facial asymmetry). Some individuals with this disorder have hearing loss. In addition to skeletal abnormalities, individuals with Melnick-Needles syndrome may have obstruction of the ducts between the kidneys and bladder (ureters) or heart defects. Males with Melnick-Needles syndrome generally have much more severe signs and symptoms than do females, and in almost all cases die before or soon after birth.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Glucose transporter type 1 deficiency syndrome ?"}, {"role": "assistant", "content": "Glucose transporter type 1 deficiency syndrome (GLUT1 deficiency syndrome) is an inherited condition that affects the nervous system. Signs and symptoms generally develop within the first few months of life and may include recurrent seizures (epilepsy) and involuntary eye movements. Affected people may also have microcephaly (unusually small head size) that develops after birth, developmental delay, intellectual disability and other neurological problems such as spasticity, ataxia (difficulty coordinating movements), and dysarthria. Approximately 10% of affected people have the \"non-epileptic\" form of GLUT1 deficiency syndrome which is associated with all the typical symptoms of the condition without seizures. GLUT1 deficiency syndrome is caused by changes (mutations) in the SLC2A1 gene and is inherited in an autosomal dominant manner. Although there is currently no cure for GLUT1 deficiency syndrome, a special diet (called a ketogenic diet) may help alleviate symptoms.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Nephrocalcinosis inherited ?"}, {"role": "assistant", "content": "Is nephrocalcinosis inherited? Nephrocalcinosis may be caused by a large variety of things, including underlying disorders, certain medications and supplements, and infections. Nephrocalcinosis itself is not inherited. However, the underlying condition that is causing nephrocalcinosis in an individual may be inherited. Some inherited conditions that may be associated with nephrocalcinosis in affected individuals are: Multiple endocrine neoplasia type 1 (MEN1) Familial distal renal tubular acidosis Chronic granulomatous disease Primary hyperoxaluria Bartter syndrome primary hyperaldosteronism Liddle syndrome 11-beta hydroxylase deficiency, a form of congenital adrenal hyperplasia (CAH) Autosomal dominant hypophosphatemic rickets and X-linked hypophosphatemic conditions", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Female Infertility ?"}, {"role": "assistant", "content": "Infertility means not being able to get pregnant after at least one year of trying (or 6 months if the woman is over age 35). If a woman keeps having miscarriages, it is also called infertility. Female infertility can result from age, physical problems, hormone problems, and lifestyle or environmental factors. Most cases of infertility in women result from problems with producing eggs. In premature ovarian failure, the ovaries stop functioning before natural menopause. In polycystic ovary syndrome (PCOS), the ovaries may not release an egg regularly or they may not release a healthy egg. About a third of the time, infertility is because of a problem with the woman. One third of the time, it is a problem with the man. Sometimes no cause can be found. If you think you might be infertile, see your doctor. There are tests that may tell if you have fertility problems. When it is possible to find the cause, treatments may include medicines, surgery, or assisted reproductive technologies. Happily, many couples treated for infertility are able to have babies. Dept. of Health and Human Services Office on Women's Health", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Tietz syndrome ?"}, {"role": "assistant", "content": "Tietz syndrome is a disorder characterized by profound hearing loss from birth, fair skin, and light-colored hair. The hearing loss in affected individuals is caused by abnormalities of the inner ear (sensorineural hearing loss) and is present from birth. Although people with Tietz syndrome are born with white hair and very pale skin, their hair color often darkens over time to blond or red. The skin of affected individuals, which sunburns very easily, may tan slightly or develop reddish freckles with limited sun exposure; however, their skin and hair color remain lighter than those of other members of their family. Tietz syndrome also affects the eyes. The colored part of the eye (the iris) in affected individuals is blue, and specialized cells in the eye called retinal pigment epithelial cells lack their normal pigment. The retinal pigment epithelium nourishes the retina, the part of the eye that detects light and color. The changes to the retinal pigment epithelium are generally detectable only by an eye examination; it is unclear whether the changes affect vision.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Primary hyperparathyroidism ?"}, {"role": "assistant", "content": "Hyperparathyroidism is an endocrine disorder in which the parathyroid glands in the neck produce too much parathyroid hormone (PTH). Signs and symptoms are often mild and nonspecific, such as a feeling of weakness and fatigue, depression, or aches and pains. With more severe disease, a person may have a loss of appetite, nausea, vomiting, constipation, confusion or impaired thinking and memory, and increased thirst and urination. Patients may have thinning of the bones without symptoms, but with risk of fractures. There are two main types of hyperparathyroidism: primary hyperparathyroidism and secondary hyperparathyroidism. Surgery to remove the parathyroid gland(s) is the main treatment for the disorder. Some patients with mild disease do not require treatment.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Urinary Tract Infections ?"}, {"role": "assistant", "content": "The urinary system is the body's drainage system for removing wastes and extra water. It includes two kidneys, two ureters, a bladder, and a urethra. Urinary tract infections (UTIs) are the second most common type of infection in the body. You may have a UTI if you notice - Pain or burning when you urinate - Fever, tiredness, or shakiness - An urge to urinate often - Pressure in your lower belly - Urine that smells bad or looks cloudy or reddish - Pain in your back or side below the ribs People of any age or sex can get UTIs. But about four times as many women get UTIs as men. You're also at higher risk if you have diabetes, need a tube to drain your bladder, or have a spinal cord injury. If you think you have a UTI it is important to see your doctor. Your doctor can tell if you have a UTI with a urine test. Treatment is with antibiotics. NIH: National Institute of Diabetes and Digestive and Kidney Diseases", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by familial paroxysmal kinesigenic dyskinesia ?"}, {"role": "assistant", "content": "Familial paroxysmal kinesigenic dyskinesia is estimated to occur in 1 in 150,000 individuals. For unknown reasons, this condition affects more males than females.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is the outlook for Gastrointestinal Carcinoid Tumors ?"}, {"role": "assistant", "content": "Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - Where the tumor is in the gastrointestinal tract. - The size of the tumor. - Whether the cancer has spread from the stomach and intestines to other parts of the body, such as the liver or lymph nodes. - Whether the patient has carcinoid syndrome or has carcinoid heart syndrome. - Whether the cancer can be completely removed by surgery. - Whether the cancer is newly diagnosed or has recurred.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Bobble-head doll syndrome ?"}, {"role": "assistant", "content": "Bobble-head doll syndrome (BHDS) is a rare neurological condition that is typically first seen in childhood. The signs and symptoms of BHDS include characteristic up and down head movements that increase during walking and excitement and decrease during concentration. Although the specific cause of this condition is unknown, BHDS is often seen with cysts in the third ventricle of the brain that also cause hydrocephalus (water on the brain). Treatment for BHDS may involve surgical removal of the cyst causing the condition or using a shunt to drain excess water on the brain.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "what research (or clinical trials) is being done for Hemifacial Spasm ?"}, {"role": "assistant", "content": "The National Institute of Neurological Disorders and Stroke (NINDS) conducts and supports research related to hemifacial spams through grants to major research institutions across the country. Much of this research focuses on better ways to prevent, treat, and ultimately cure neurological disorders, such as hemifacial spasm.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) TAR syndrome ?"}, {"role": "assistant", "content": "TAR syndrome is characterized by the absence of a bone called the radius in each forearm, short stature, and thrombocytopenia. The thrombocytopenia often appears first in infancy but becomes less severe or returns to normal over time. Infants and young children are particularly vulnerable to episodes of severe bleeding which may occur in the brain and other organs. Children who survive this period and do not have damaging bleeding in the brain usually have a normal life expectancy and normal intellectual development. Other signs and symptoms vary but may include heart defects, kidney defects, and other skeletal abnormalities. About half of people with TAR syndrome also have difficulty digesting cow's milk. TAR syndrome is thought be caused by a deletion of genes on chromosome 1q21.1 in concert with another genetic change that has yet to be identified. Click here to see a diagram of chromosome 1.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Do you have information about Drinking Water"}, {"role": "assistant", "content": "Summary : We all need to drink water. How much you need depends on your size, activity level, and the weather where you live. The water you drink is a combination of surface water and groundwater. Surface water includes rivers, lakes and reservoirs. Groundwater comes from underground. The United States has one of the safest water supplies in the world, but drinking water quality can vary from place to place. It depends on the condition of the source water and the treatment it receives. Treatment may include adding fluoride to prevent cavities and chlorine to kill germs. Your water supplier must give you annual reports on drinking water. The reports include where your water came from and what contaminants are in it. Centers for Disease Control and Prevention", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Diabetes, Heart Disease, and Stroke ?"}, {"role": "assistant", "content": "You can keep track of the ABCs of diabetes to make sure your treatment is working. Talk with your health care provider about the best targets for you.\n \nA stands for A1C (a test that measures blood glucose control). Have an A1C test at least twice a year. It shows your average blood glucose level over the past 3 months. Talk with your doctor about whether you should check your blood glucose at home and how to do it.\n \nA1C target Below 7 percent, unless your doctor sets a different target\n \n\n \nBlood glucose targets Before meals 90 to 130 mg/dL 1 to 2 hours after the start of a meal Less than 180 mg/dL\n \nB is for blood pressure. Have it checked at every office visit.\n \nBlood pressure target Below 140/80 mm Hg, unless your doctor sets a different target\n \nC is for cholesterol. Have it checked at least once a year.\n \nBlood fat (cholesterol) targets LDL (bad) cholesterol Under 100 mg/dL Triglycerides Under 150 mg/dL HDL (good) cholesterol For men: above 40 mg/dL For women: above 50 mg/dL\n \nControl of the ABCs of diabetes can reduce your risk for heart disease and stroke. If your blood glucose, blood pressure, and cholesterol levels aren't on target, ask your doctor what changes in diet, activity, and medications can help you reach these goals.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Mabry syndrome ?"}, {"role": "assistant", "content": "Mabry syndrome is a condition characterized by intellectual disability, distinctive facial features, increased levels of an enzyme called alkaline phosphatase in the blood (hyperphosphatasia), and other signs and symptoms. People with Mabry syndrome have intellectual disability that is often moderate to severe. They typically have little to no speech development and are delayed in the development of motor skills (such as sitting, crawling, and walking). Many affected individuals have low muscle tone (hypotonia) and develop recurrent seizures (epilepsy) in early childhood. Seizures are usually the generalized tonic-clonic type, which involve muscle rigidity, convulsions, and loss of consciousness. Individuals with Mabry syndrome have distinctive facial features that include wide-set eyes (hypertelorism), long openings of the eyelids (long palpebral fissures), a nose with a broad bridge and a rounded tip, downturned corners of the mouth, and a thin upper lip. These facial features usually become less pronounced over time. Hyperphosphatasia begins within the first year of life in people with Mabry syndrome. There are many different types of alkaline phosphatase found in tissues; the type that is increased in Mabry syndrome is called the tissue non-specific type and is found throughout the body. In affected individuals, alkaline phosphatase levels in the blood are usually increased by one to two times the normal amount, but can be up to 20 times higher than normal. The elevated enzyme levels remain relatively stable over a person's lifetime. Hyperphosphatasia appears to cause no negative health effects, but this finding can help health professionals diagnose Mabry syndrome. Another common feature of Mabry syndrome is shortened bones at the ends of fingers (brachytelephalangy), which can be seen on x-ray imaging. Underdeveloped fingernails (nail hypoplasia) may also occur. Sometimes, individuals with Mabry syndrome have abnormalities of the digestive system, including narrowing or blockage of the anus (anal stenosis or anal atresia) or Hirschsprung disease, a disorder that causes severe constipation or blockage of the intestine. Rarely, affected individuals experience hearing loss. The signs and symptoms of Mabry syndrome vary among affected individuals. Those who are least severely affected have only intellectual disability and hyperphosphatasia, without distinctive facial features or the other health problems listed above.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Pineocytoma ?"}, {"role": "assistant", "content": "How might a pineocytoma be treated? Because pineocytomas are quite rare, there are no consensus guidelines on the best treatment for these tumors. However, surgery to remove the entire tumor is considered the standard treatment. Because these tumors are located deep in the brain, it is important that the risks of surgery be carefully considered in each person. Radiation therapy is sometimes used following surgery to destroy any tumor cells that may remain, but the benefit of this additional treatment is questionable.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Gracile bone dysplasia ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Gracile bone dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Gracile bone dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of bone mineral density 90% Abnormality of the spleen 90% Bowing of the long bones 90% Decreased skull ossification 90% Micromelia 90% Narrow mouth 90% Recurrent fractures 90% Short philtrum 90% Short stature 90% Skeletal dysplasia 90% Slender long bone 90% Tented upper lip vermilion 90% Abnormality of pelvic girdle bone morphology 50% Abnormality of the clavicle 50% Abnormality of the fingernails 50% Abnormality of the helix 50% Abnormality of the metacarpal bones 50% Abnormality of the metaphyses 50% Abnormality of the ribs 50% Anteverted nares 50% Aplasia/Hypoplasia affecting the eye 50% Aplasia/Hypoplasia of the lungs 50% Aplasia/Hypoplasia of the thymus 50% Brachydactyly syndrome 50% Cloverleaf skull 50% Depressed nasal bridge 50% Enlarged thorax 50% Frontal bossing 50% Hypoplasia of penis 50% Intrauterine growth retardation 50% Low-set, posteriorly rotated ears 50% Malar flattening 50% Platyspondyly 50% Renal hypoplasia/aplasia 50% Respiratory insufficiency 50% Short distal phalanx of finger 50% Short nose 50% Short toe 50% Tapered finger 50% Wide nasal bridge 50% Abnormality of neuronal migration 7.5% Abnormality of the fontanelles or cranial sutures 7.5% Aplasia/Hypoplasia involving the nose 7.5% Aplasia/Hypoplasia of the eyebrow 7.5% Blepharophimosis 7.5% Blue sclerae 7.5% Cataract 7.5% Cleft palate 7.5% Cryptorchidism 7.5% Displacement of the external urethral meatus 7.5% Hepatomegaly 7.5% Hypertelorism 7.5% Hypotelorism 7.5% Iris coloboma 7.5% Microcornea 7.5% Muscular hypotonia 7.5% Oligohydramnios 7.5% Rocker bottom foot 7.5% Upslanted palpebral fissure 7.5% Asplenia 5% Aniridia - Ascites - Autosomal dominant inheritance - Failure to thrive - Flared metaphysis - Hydrocephalus - Hypocalcemia - Hypoplastic spleen - Micropenis - Microphthalmia - Prominent forehead - Seizures - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "what research (or clinical trials) is being done for Diabetic Retinopathy ?"}, {"role": "assistant", "content": "The National Eye Institute, or NEI, is conducting and supporting research that seeks better ways to detect, treat, and prevent vision loss in people with diabetes. This research is conducted through studies in the laboratory and with patients. For example, researchers are studying drugs for the treatment of proliferative retinopathy that may reduce the need for laser surgery.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by X-linked sideroblastic anemia and ataxia ?"}, {"role": "assistant", "content": "X-linked sideroblastic anemia and ataxia is a rare disorder; only a few affected families have been reported.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Hereditary diffuse leukoencephalopathy with spheroids inherited ?"}, {"role": "assistant", "content": "How is hereditary diffuse leukoencephalopathy with spheroids (HDLS) inherited? HDLS is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Binswanger's disease inherited ?"}, {"role": "assistant", "content": "Is Binswanger's disease an inherited condition? Although Binswanger's disease is not considered an inherited condition, genetics may play a role in many of the conditions and risk factors that are associated with the disease (i.e. atherosclerosis, blood clots).", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by Lenz microphthalmia syndrome ?"}, {"role": "assistant", "content": "Lenz microphthalmia syndrome is a very rare condition; its incidence is unknown. It has been identified in only a few families worldwide.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Peripheral Arterial Disease (P.A.D.) ?"}, {"role": "assistant", "content": "Peripheral arterial disease (P.A.D.) is a disease in which plaque (plak) builds up in the arteries that carry blood to your head, organs, and limbs. Plaque is made up of fat, cholesterol, calcium, fibrous tissue, and other substances in the blood. P.A.D. currently affects millions of Americans, and about 1 in every 20 Americans over the age of 50 has P.A.D.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Porphyria ?"}, {"role": "assistant", "content": "Each of the eight types of porphyria corresponds to low levels of a specific enzyme in the heme biosynthetic pathway. Experts often classify porphyrias as acute or cutaneous based on the symptoms a person experiences:\n \n- Acute porphyrias affect the nervous system. They occur rapidly and last only a short time. - Cutaneous porphyrias affect the skin.\n \nTwo types of acute porphyrias, hereditary coproporphyria and variegate porphyria, can also have cutaneous symptoms.\n \nExperts also classify porphyrias as erythropoietic or hepatic:\n \n- In erythropoietic porphyrias, the body overproduces porphyrins, mainly in the bone marrow. - In hepatic porphyrias, the body overproduces porphyrins and porphyrin precursors, mainly in the liver.\n \nTable 1 lists each type of porphyria, the deficient enzyme responsible for the disorder, and the main location of porphyrin buildup.\n \nTable 1. Types of porphyria\n \nType of Porphyria Deficient Enzyme Main Location of Porphyrin Buildup delta-aminolevulinate-dehydratase deficiency porphyria delta-aminolevulinic acid dehydratase liver acute intermittent porphyria porphobilinogen deaminase liver hereditary coproporphyria coproporphyrinogen oxidase liver variegate porphyria protoporphyrinogen oxidase liver congenital erythropoietic porphyria uroporphyrinogen III cosynthase bone marrow porphyria cutanea tarda uroporphyrinogen decarboxylase (~75% deficiency) liver hepatoerythropoietic porphyria uroporphyrinogen decarboxylase (~90% deficiency) bone marrow erythropoietic protoporphyria* ferrochelatase (~75% deficiency) bone marrow\n \n*Protoporphyria XLPP is a variant of erythropoietic protoporphyria.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Spondylometaphyseal dysplasia type A4 ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Spondylometaphyseal dysplasia type A4? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondylometaphyseal dysplasia type A4. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the hip bone 90% Micromelia 90% Platyspondyly 90% Short stature 90% Brachydactyly syndrome 50% Enlarged thorax 7.5% Limitation of joint mobility 7.5% Autosomal recessive inheritance - Broad ischia - Costochondral joint sclerosis - Coxa valga - Disproportionate short-limb short stature - Dolichocephaly - Enlargement of the costochondral junction - Flat acetabular roof - Hypoplasia of the capital femoral epiphysis - Irregular capital femoral epiphysis - Irregular patellae - Metaphyseal irregularity - Metaphyseal sclerosis - Metaphyseal widening - Narrow greater sacrosciatic notches - Osteoporotic metatarsal - Osteoporotic tarsals - Ovoid vertebral bodies - Pectus carinatum - Sclerotic humeral metaphysis - Severe short stature - Spondylometaphyseal dysplasia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Chikungunya ?"}, {"role": "assistant", "content": "Chikungunya is a virus that spread by the same kinds of mosquitoes that spread dengue and Zika virus. Rarely, it can spread from mother to newborn around the time of birth. It may also possibly spread through infected blood. There have been outbreaks of chikungunya virus in Africa, Asia, Europe, the Indian and Pacific Oceans, the Caribbean, and Central and South America. Most people who are infected will have symptoms, which can be severe. They usually start 3-7 days after being bitten by an infected mosquito. The most common symptoms are fever and joint pain. Other symptoms may include headache, muscle pain, joint swelling, and rash. Most people feel better within a week. In some cases, however, the joint pain may last for months. People at risk for more severe disease include newborns, older adults, and people with diseases such as high blood pressure, diabetes, or heart disease. A blood test can show whether you have chikungunya virus. There are no vaccines or medicines to treat it. Drinking lots of fluids, resting, and taking non-aspirin pain relievers might help. The best way to prevent chikungunya infection is to avoid mosquito bites: - Use insect repellent - Wear clothes that cover your arms, legs, and feet - Stay in places that have air conditioning or that use window and door screens Centers for Disease Control and Prevention", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Pyelonephritis: Kidney Infection ?"}, {"role": "assistant", "content": "Pyelonephritis is treated with antibiotics, which may need to be taken for several weeks. While a urine sample is sent to a lab for culture, the health care provider may begin treatment with an antibiotic that fights the most common types of bacteria. Once culture results are known and the bacteria is clearly identified, the health care provider may switch the antibiotic to one that more effectively targets the bacteria. Antibiotics may be given through a vein, orally, or both. Urinary tract obstructions are often treated with surgery.\n \nSeverely ill patients may be hospitalized and limited to bed rest until they can take the fluids and medications they need on their own. Fluids and medications may be given intravenously during this time.\n \nIn adults, repeat urine cultures should be performed after treatment has ended to make sure the infection does not recur. If a repeat test shows infection, another 14-day course of antibiotics is prescribed; if infection recurs again, antibiotics are prescribed for 6 weeks.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Pretibial epidermolysis bullosa ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Pretibial epidermolysis bullosa? The Human Phenotype Ontology provides the following list of signs and symptoms for Pretibial epidermolysis bullosa. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal blistering of the skin 90% Abnormality of the fingernails 90% Abnormality of the toenails 90% Atypical scarring of skin 50% Pruritus 50% Hyperkeratosis 7.5% Lichenification 7.5% Autosomal dominant inheritance - Pretibial blistering - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Varicose Veins ?"}, {"role": "assistant", "content": "Espaol\n \nVaricose (VAR-i-kos) veins are swollen, twisted veins that you can see just under the surface of the skin. These veins usually occur in the legs, but they also can form in other parts of the body.\n \nVaricose veins are a common condition. They usually cause few signs and symptoms. Sometimes varicose veins cause mild to moderate pain, blood clots, skin ulcers (sores), or other problems.\n \nOverview\n \nVeins are blood vessels that carry blood from your body's tissues to your heart. Your heart pumps the blood to your lungs to pick up oxygen. The oxygen-rich blood then is pumped to your body through blood vessels called arteries.\n \nFrom your arteries, the blood flows through tiny blood vessels called capillaries, where it gives up its oxygen to the body's tissues. Your blood then returns to your heart through your veins to pick up more oxygen. For more information about blood flow, go to the Health Topics How the Heart Works article.\n \nVeins have one-way valves that help keep blood flowing toward your heart. If the valves are weak or damaged, blood can back up and pool in your veins. This causes the veins to swell, which can lead to varicose veins.\n \nMany factors can raise your risk for varicose veins. Examples of these factors include family history, older age, gender, pregnancy, overweight or obesity, lack of movement, and leg trauma.\n \nVaricose veins are treated with lifestyle changes and medical procedures. The goals of treatment are to relieve symptoms, prevent complications, and improve appearance.\n \nOutlook\n \nVaricose veins usually don't cause medical problems. If they do, your doctor may simply suggest making lifestyle changes.\n \nSometimes varicose veins cause pain, blood clots, skin ulcers, or other problems. If this happens, your doctor may recommend one or more medical procedures. Some people choose to have these procedures to improve the way their veins look or to relieve pain.\n \nMany treatments for varicose veins are quick and easy and don't require a long recovery.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Prolactinoma ?"}, {"role": "assistant", "content": "A doctor will test for prolactin blood levels in women with unexplained milk secretion, called galactorrhea, or with irregular menses or infertility and in men with impaired sexual function and, in rare cases, milk secretion. If prolactin levels are high, a doctor will test thyroid function and ask first about other conditions and medications known to raise prolactin secretion. The doctor may also request magnetic resonance imaging (MRI), which is the most sensitive test for detecting pituitary tumors and determining their size. MRI scans may be repeated periodically to assess tumor progression and the effects of therapy. Computerized tomography (CT) scan also gives an image of the pituitary but is less precise than the MRI.\n \nThe doctor will also look for damage to surrounding tissues and perform tests to assess whether production of other pituitary hormones is normal. Depending on the size of the tumor, the doctor may request an eye exam with measurement of visual fields.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Charcot-Marie-Tooth disease type 1D ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Charcot-Marie-Tooth disease type 1D? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 1D. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Decreased motor nerve conduction velocity - Distal amyotrophy - Distal muscle weakness - Foot dorsiflexor weakness - Juvenile onset - Steppage gait - Upper limb muscle weakness - Variable expressivity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Heart Disease in Women ?"}, {"role": "assistant", "content": "Research suggests thatcoronary heart disease(CHD) begins with damage to the lining and inner layers of the coronary (heart) arteries. Several factors contribute to this damage. They include:\n \nSmoking, including secondhand smoke\n \nHigh amounts of certain fats andcholesterol in the blood\n \nHigh blood pressure\n \nHigh amounts of sugar in the blood due to insulin resistance or diabetes\n \nBlood vessel inflammation\n \nPlaque may begin to build up where the arteries are damaged. The buildup of plaque in the coronary arteries may start in childhood.\n \nOver time, plaque can harden or rupture (break open). Hardened plaque narrows the coronary arteries and reduces the flow of oxygen-rich blood to the heart. This can cause chest pain or discomfort calledangina.\n \nIf the plaque ruptures, blood cell fragments called platelets (PLATE-lets) stick to the site of the injury. They may clump together to form blood clots.\n \nBlood clots can further narrow the coronary arteries and worsenangina. If a clot becomes large enough, it can mostly or completely block a coronary artery and cause a heart attack.\n \nIn addition to the factors above, low estrogen levels before or after menopause may play a role in causingcoronary microvascular disease(MVD). Coronary MVD is heart disease that affects the heart's tiny arteries.\n \nThe cause of broken heart syndrome isn't yet known. However, a sudden release of stress hormones may play a role in causing the disorder. Most cases of broken heart syndrome occur in women who have gone through menopause.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to early-onset glaucoma ?"}, {"role": "assistant", "content": "Approximately 10 percent to 33 percent of people with juvenile open-angle glaucoma have mutations in the MYOC gene. MYOC gene mutations have also been detected in some people with primary congenital glaucoma. The MYOC gene provides instructions for producing a protein called myocilin. Myocilin is found in certain structures of the eye, called the trabecular meshwork and the ciliary body, that regulate the intraocular pressure. Researchers believe that myocilin functions together with other proteins as part of a protein complex. Mutations may alter the protein in such a way that the complex cannot be formed. Defective myocilin that is not incorporated into functional complexes may accumulate in the trabecular meshwork and ciliary body. The excess protein may prevent sufficient flow of fluid from the eye, resulting in increased intraocular pressure and causing the signs and symptoms of early-onset glaucoma. Between 20 percent and 40 percent of people with primary congenital glaucoma have mutations in the CYP1B1 gene. CYP1B1 gene mutations have also been detected in some people with juvenile open-angle glaucoma. The CYP1B1 gene provides instructions for producing a form of the cytochrome P450 protein. Like myocilin, this protein is found in the trabecular meshwork, ciliary body, and other structures of the eye. It is not well understood how defects in the CYP1B1 protein cause signs and symptoms of glaucoma. Recent studies suggest that the defects may interfere with the early development of the trabecular meshwork. In the clear covering of the eye (the cornea), the CYP1B1 protein may also be involved in a process that regulates the secretion of fluid inside the eye. If this fluid is produced in excess, the high intraocular pressure characteristic of glaucoma may develop. The CYP1B1 protein may interact with myocilin. Individuals with mutations in both the MYOC and CYP1B1 genes may develop glaucoma at an earlier age and have more severe symptoms than do those with mutations in only one of the genes. Mutations in other genes may also be involved in early-onset glaucoma.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Narcolepsy ?"}, {"role": "assistant", "content": "Narcolepsy is a chronic neurological disorder caused by the brain's inability to regulate sleep-wake cycles normally. At various times throughout the day, people with narcolepsy experience irresistable bouts ofsleep. If the urge becomes overwhelming, individuals will fall asleep for periods lasting from a few seconds to several minutes. In rare cases, some people may remain asleep for an hour or longer. In addition to excessive daytime sleepiness (EDS), three other major symptoms frequently characterize narcolepsy: cataplexy, or the sudden loss of voluntary muscle tone; vivid hallucinations during sleep onset or upon awakening; and brief episodes of total paralysis at the beginning or end of sleep. Narcolepsy is not definitively diagnosed in most patients until 10 to 15 years after the first symptoms appear. The cause of narcolepsy remains unknown. It is likely that narcolepsy involves multiple factors interacting to cause neurological dysfunction and sleep disturbances.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Danon disease ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of Danon disease: - American Heart Association: Dilated Cardiomyopathy - Genetic Testing Registry: Danon disease - KidsHealth from Nemours: Getting an EKG - Swedish Information Centre for Rare Diseases These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Paroxysmal nocturnal hemoglobinuria ?"}, {"role": "assistant", "content": "Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired disorder that leads to the premature death and impaired production of blood cells. It can occur at any age, but is usually diagnosed in young adulthood. People with PNH have recurring episodes of symptoms due to hemolysis, which may be triggered by stresses on the body such as infections or physical exertion. This results in a deficiency of various types of blood cells and can cause signs and symptoms such as fatigue, weakness, abnormally pale skin (pallor), shortness of breath, and an increased heart rate. People with PNH may also be prone to infections and abnormal blood clotting (thrombosis) or hemorrhage, and are at increased risk of developing leukemia. It is caused by acquired, rather than inherited, mutations in the PIGA gene; the condition is not passed down to children of affected individuals. Sometimes, people who have been treated for aplastic anemia may develop PNH. The treatment of PNH is largely based on symptoms; stem cell transplantation is typically reserved for severe cases of PNH with aplastic anemia or those whose develop leukemia.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for thiamine-responsive megaloblastic anemia syndrome ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of thiamine-responsive megaloblastic anemia syndrome: - Gene Review: Gene Review: Thiamine-Responsive Megaloblastic Anemia Syndrome - Genetic Testing Registry: Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness - MedlinePlus Encyclopedia: Optic nerve atrophy - MedlinePlus Encyclopedia: Thiamine These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Q fever ?"}, {"role": "assistant", "content": "Q fever is a worldwide disease with acute and chronic stages caused by the bacteria known as Coxiella burnetii. Cattle, sheep, and goats are the primary reservoirs although a variety of species may be infected. Organisms are excreted in birth fluids, milk, urine, and feces of infected animals and are able to survive for long periods in the environment. Infection of humans usually occurs by inhalation of these organisms from air that contains airborne barnyard dust contaminated by dried placental material, birth fluids, and excreta of infected animals. Other modes of transmission to humans, including tick bites, ingestion of unpasteurized milk or dairy products, and human to human transmission, are rare. Humans are often very susceptible to the disease, and very few organisms may be required to cause infection. In less than 5% of cases the affected people with acute Q fever infection develop a chronic Q fever. Treatment of the acute form is made with antibiotics. The chronic form's treatment depend on the symptoms.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Pilomatrixoma ?"}, {"role": "assistant", "content": "How might a pilomatrixoma be treated? Pilomatrixomas are usually surgically removed (excised). In most cases, the tumors do not grow back (recur) after surgery, unless the removal was incomplete.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Fowler's syndrome ?"}, {"role": "assistant", "content": "Fowlers syndrome is characterized by urinary retention associated with abnormal electromyographic activity in young women in the absence of overt neurologic disease. Some women with this syndrome have polycystic ovaries as well.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Santos Mateus Leal syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Santos Mateus Leal syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Santos Mateus Leal syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aganglionic megacolon 90% Foot polydactyly 90% Cognitive impairment 50% Hypertelorism 50% Postaxial hand polydactyly 50% Renal hypoplasia/aplasia 50% Sensorineural hearing impairment 50% Autosomal recessive inheritance - Hand polydactyly - Hearing impairment - Unilateral renal agenesis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Renal tubular acidosis with deafness ?"}, {"role": "assistant", "content": "Renal tubular acidosis with deafness is characterized by kidney (renal) problems and sensorineural hearing loss. Infants with this condition may have problems with feeding and gaining weight (failure to thrive). Most children and adults with the condition have short stature, and many develop kidney stones. Other less common features include a softening and weakening of the bones and hypokalemic paralysis (extreme muscle weakness associated with low levels of potassium in the blood). Renal tubular acidosis with deafness is caused by mutations in the ATP6V1B1 or ATP6V0A4 gene. It is inherited in an autosomal recessive pattern. Treatment with sodium bicarbonate or sodium citrate can reduce or prevent many of the symptoms of this condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Alpha-1 Antitrypsin Deficiency ?"}, {"role": "assistant", "content": "The first lung-related symptoms of alpha-1 antitrypsin (AAT) deficiency may include shortness of breath, less ability to be physically active, and wheezing. These signs and symptoms most often begin between the ages of 20 and 40.\n \nOther signs and symptoms may include repeated lung infections, tiredness, a rapid heartbeat upon standing, vision problems, and weight loss.\n \nSome people who have severe AAT deficiency develop emphysema (em-fi-SE-ma)often when they're only in their forties or fifties. Signs and symptoms of emphysema include problems breathing, wheezing, and a chronic (ongoing) cough.\n \nAt first, many people who have AAT deficiency are diagnosed with asthma. This is because wheezing also is a symptom of asthma. Also, people who have AAT deficiency respond well to asthma medicines.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for mucopolysaccharidosis type III ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of mucopolysaccharidosis type III: - Genetic Testing Registry: Mucopolysaccharidosis, MPS-III-A - Genetic Testing Registry: Mucopolysaccharidosis, MPS-III-B - Genetic Testing Registry: Mucopolysaccharidosis, MPS-III-C - Genetic Testing Registry: Mucopolysaccharidosis, MPS-III-D - MedlinePlus Encyclopedia: Sanfilippo Syndrome - National MPS Society: A Guide to Understanding MPS III These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Lattice corneal dystrophy type 1 ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Lattice corneal dystrophy type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Lattice corneal dystrophy type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Lattice corneal dystrophy - Progressive visual loss - Recurrent corneal erosions - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Kallmann syndrome ?"}, {"role": "assistant", "content": "Kallmann syndrome (KS) is a condition characterized primarily by hypogonadotropic hypogonadism (HH) and absent or diminished sense of smell (anosmia or hyposmia, respectively). HH is present from birth and is due to deficiency of gonadotropin-releasing hormone (GnRH). KS is often diagnosed at puberty due to lack of sexual development, but may be suspected in male infants with undescended testicles or an unusually small penis. Untreated adult males may have decreased bone density and muscle mass; decreased testicular volume; erectile dysfunction; diminished libido; and infertility. Untreated adult females almost always have absent menstruation with normal, little, or no breast development. In rare cases, features may include failure of kidney development (renal agenesis); hearing impairment; cleft lip or palate; and/or dental abnormalities. Most cases of KS are sporadic but some types are familial. The inheritance pattern differs depending on the genetic cause. Treatment includes hormone replacement therapy for sexual development. Fertility can be achieved in most cases.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Stickler syndrome, type 2 ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Stickler syndrome, type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Stickler syndrome, type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the vitreous humor 90% Cataract 90% Myopia 90% Opacification of the corneal stroma 90% Retinal detachment 90% Sensorineural hearing impairment 90% Cleft palate 50% Retinopathy 50% Anteverted nares - Arachnodactyly - Arthropathy - Autosomal dominant inheritance - Bifid uvula - Depressed nasal bridge - Flat midface - Glaucoma - Joint hypermobility - Long fingers - Malar flattening - Pierre-Robin sequence - Spondyloepiphyseal dysplasia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Brachydactyly type B inherited ?"}, {"role": "assistant", "content": "How is brachydactyly type B inherited? Brachydactyly type B is caused by mutations in the ROR2 gene. It is inherited in an autosomal dominant fashion, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Individuals with brachydactyly type B have a 50% chance of passing on this condition to their children.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Febrile infection-related epilepsy syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Febrile infection-related epilepsy syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Febrile infection-related epilepsy syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Developmental regression 90% EEG abnormality 90% Reduced consciousness/confusion 90% Seizures 90% Abnormality of temperature regulation 50% Behavioral abnormality 50% Migraine 50% Myalgia 50% Sinusitis 50% Autoimmunity 7.5% Sudden cardiac death 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Frostbite ?"}, {"role": "assistant", "content": "Frostbite is an injury to the body that is caused by freezing. It most often affects the nose, ears, cheeks, chin, fingers, or toes. Frostbite can permanently damage the body, and severe cases can lead to amputation. Signs of frostbite include - A white or grayish-yellow skin area - Skin that feels unusually firm or waxy - Numbness If you have symptoms of frostbite, seek medical care. But if immediate medical care isn't available, here are steps to take: - Get into a warm room as soon as possible. - Unless absolutely necessary, do not walk on frostbitten feet or toes. Walking increases the damage. - Put the affected area in warm - not hot - water. - You can also warm the affected area using body heat. For example, use your armpit to warm frostbitten fingers. - Don't rub the frostbitten area with snow or massage it at all. This can cause more damage. - Don't use a heating pad, heat lamp, or the heat of a stove, fireplace, or radiator for warming. Since frostbite makes an area numb, you could burn it. Centers for Disease Control and Prevention", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Pars planitis ?"}, {"role": "assistant", "content": "How is pars planitis diagnosed? Pars planitis is typically diagnosed based on a specialized eye examination. During the exam, the ophthalmologist will typically see clusters of white blood cells trapped within the eyeball that are called snowballs (or \"inflammatory exudate\"). If these clusters are located on the pars plana, they are known as snowbanks. Snowbanks are considered a \"hallmark\" sign of pars planitis. It is often recommended that people over age 25 with pars planitis have an MRI of their brain and spine to rule out multiple sclerosis.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Binswanger's disease ?"}, {"role": "assistant", "content": "How is Binswanger's disease treated? The brain damage associated with Binswanger's disease is not reversible. Treatment is based on the signs and symptoms present in each person. For example, medications may be prescribed to treat depression, agitation, and other symptoms associated with the condition. Successful management of hypertension and diabetes can slow the progression of atherosclerosis, which can delay the progression of Binswanger's disease.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Von Hippel-Lindau disease ?"}, {"role": "assistant", "content": "How is von Hippel-Lindau (VHL) disease diagnosed? The diagnosis of von Hippel-Lindau (VHL) disease can be made based on specific clinical criteria (signs and symptoms), or when molecular genetic testing reveals a mutation in the VHL gene. Tests that may be used to establish a clinical diagnosis include: MRI of the brain and spinal cord fundoscopy ultrasound examination or MRI of the abdomen blood and urinary catecholamine metabolites.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to alkaptonuria ?"}, {"role": "assistant", "content": "Mutations in the HGD gene cause alkaptonuria. The HGD gene provides instructions for making an enzyme called homogentisate oxidase. This enzyme helps break down the amino acids phenylalanine and tyrosine, which are important building blocks of proteins. Mutations in the HGD gene impair the enzyme's role in this process. As a result, a substance called homogentisic acid, which is produced as phenylalanine and tyrosine are broken down, accumulates in the body. Excess homogentisic acid and related compounds are deposited in connective tissues, which causes cartilage and skin to darken. Over time, a buildup of this substance in the joints leads to arthritis. Homogentisic acid is also excreted in urine, making the urine turn dark when exposed to air.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy ?"}, {"role": "assistant", "content": "CADASIL is likely a rare condition; however, its prevalence is unknown.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Sjogren's Syndrome ?"}, {"role": "assistant", "content": "Sjogren's syndrome is a disease that causes dryness in your mouth and eyes. It can also lead to dryness in other places that need moisture, such as your nose, throat and skin. Most people who get Sjogren's syndrome are older than 40. Nine of 10 are women. Sjogren's syndrome is sometimes linked to rheumatic problems such as rheumatoid arthritis. Sjogren's syndrome is an autoimmune disease. If you have an autoimmune disease, your immune system, which is supposed to fight disease, mistakenly attacks parts of your own body. In Sjogren's syndrome, your immune system attacks the glands that make tears and saliva. It may also affect your joints, lungs, kidneys, blood vessels, digestive organs and nerves. The main symptoms are: - Dry eyes - Dry mouth Treatment focuses on relieving symptoms. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Hearing Loss ?"}, {"role": "assistant", "content": "Presbycusis is common in older adults. Presbycusis comes on gradually as a person ages and mostly affects people over 50. Doctors do not know why presbycusis happens, but it seems to run in families. Presbycusis may make it hard for a person to tolerate loud sounds or to hear what others are saying. This type of hearing loss involves damage to the inner ear and is permanent. Tinnitus, also common in older people, is the ringing, roaring, clicking, hissing, or buzzing sound in the ears frequently caused by presbycusis, exposure to loud noise or certain medications. Tinnitus can accompany any type of hearing loss. It also can be a sign of other important health problems, too, such as allergies and problems in the heart and blood vessels. Tinnitus may come and go, or stop altogether.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Darier disease ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of Darier disease: - Genetic Testing Registry: Keratosis follicularis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to spastic paraplegia type 4 ?"}, {"role": "assistant", "content": "Mutations in the SPAST gene cause spastic paraplegia type 4. The SPAST gene provides instructions for producing a protein called spastin. Spastin is found throughout the body, particularly in certain nerve cells (neurons). The spastin protein plays a role in the function of microtubules, which are rigid, hollow fibers that make up the cell's structural framework (the cytoskeleton). Microtubules are also involved in transporting cell components and facilitating cell division. Spastin likely helps restrict microtubule length and disassemble microtubule structures when they are no longer needed. Mutations in spastin impair the microtubules' ability to transport cell components, especially in nerve cells; researchers believe this contributes to the major signs and symptoms of spastic paraplegia type 4.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Microcephaly pontocerebellar hypoplasia dyskinesia ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Microcephaly pontocerebellar hypoplasia dyskinesia? The Human Phenotype Ontology provides the following list of signs and symptoms for Microcephaly pontocerebellar hypoplasia dyskinesia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Death in childhood 7.5% Cerebral cortical atrophy 5% Abnormality of the periventricular white matter - Autosomal recessive inheritance - Congenital onset - Extrapyramidal dyskinesia - Gliosis - Hypoplasia of the pons - Impaired smooth pursuit - Opisthotonus - Poor suck - Progressive microcephaly - Restlessness - Seizures - Severe global developmental delay - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to prevent Childhood Nephrotic Syndrome ?"}, {"role": "assistant", "content": "Researchers have not found a way to prevent childhood nephrotic syndrome when the cause is idiopathic or congenital.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Transposition of the great arteries ?"}, {"role": "assistant", "content": "Transposition of the great arteries (TGA) is a type of congenital heart defect in which there is a reversal of the normal connections of the aorta and the pulmonary artery with the heart. The aorta and pulmonary artery are reversed, which causes oxygen-poor blood to be circulated to the body and oxygen-rich blood to be circulated between the lungs and the heart, rather than to the body. Symptoms are apparent at birth and include great difficulty breathing and severe cyanosis (a bluish discoloration of the skin). The exact cause of TGA in most cases is unknown. Surgery is done to correct the abnormality during the first few days of life.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Dermoids of cornea ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Dermoids of cornea? The Human Phenotype Ontology provides the following list of signs and symptoms for Dermoids of cornea. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Opacification of the corneal stroma 90% Visual impairment 90% Abnormality of the pupil 50% Abnormality of the eye - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Periodic fever, aphthous stomatitis, pharyngitis and adenitis ?"}, {"role": "assistant", "content": "What causes periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis (PFAPA)? The cause of PFAPA is unknown, although viral or autoimmune causes have been suggested.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Tuberous Sclerosis ?"}, {"role": "assistant", "content": "Tuberous sclerosis is a rare genetic disease that causes benign tumors to grow in the brain and other organs. Symptoms vary, depending on where the tumors grow. They could include - Skin problems, such as light patches and thickened skin - Seizures - Behavior problems - Intellectual disabilities - Kidney problems Some people have signs of tuberous sclerosis at birth. In others it can take time for the symptoms to develop. The disease can be mild, or it can cause severe disabilities. In rare cases, tumors in vital organs or other symptoms can be life-threatening. Tuberous sclerosis has no cure, but treatments can help symptoms. Options include medicines, educational and occupational therapy, surgery, or surgery to treat specific complications. NIH: National Institute of Neurological Disorders and Stroke", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Prostate Cancer ?"}, {"role": "assistant", "content": "Surgery is a common treatment for early stage prostate cancer. It is used to remove the cancer. The surgeon may remove the entire prostate -- a type of surgery called radical prostatectomy -- or, in some cases, remove only part of it. Sometimes the surgeon will also remove nearby lymph nodes. Side effects may include lack of sexual function (impotence), or problems holding urine (incontinence).", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Ehlers-Danlos syndrome, kyphoscoliosis type ?"}, {"role": "assistant", "content": "How is Ehlers-Danlos syndrome, kyphoscoliosis type diagnosed? A diagnosis of Ehlers-Danlos syndrome (EDS), kyphoscoliosis type is typically based on the presence of characteristic signs and symptoms. The following tests may then be recommended to confirm the diagnosis: Urine tests and/or a skin biopsy to detect deficiencies in certain enzymes that are important for collagen formation Genetic testing for a change (mutation) in the PLOD1 gene", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Alopecia universalis ?"}, {"role": "assistant", "content": "How might alopecia universalis be treated? Although these is no therapy approved for the treatment of alopecia universalis, some people find that medications approved for other purposes may help hair grow back, at least temporarily. Since alopecia universalis is one of the more severe types of alopecia areata, treatment options are somewhat limited. The most common treatments include corticosteriods and topical (applied to the skin) immunotherapy. There are possible side effects of corticosteriods which should be discussed with a physician. Also, regrown hair is likely to fall out when the corticosteriods are stopped. About 40% of people treated with topical immunotherapy will regrow scalp hair after about six months of treatment. Those who do successfully regrow scalp hair need to continue the treatment to maintain the hair regrowth. While these treatments may promote hair growth, they do not prevent new loss or cure the underlying disease. For those who do not respond to treatment, wigs are an option.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) ataxia with vitamin E deficiency ?"}, {"role": "assistant", "content": "Ataxia with vitamin E deficiency is a disorder that impairs the body's ability to use vitamin E obtained from the diet. Vitamin E is an antioxidant, which means that it protects cells in the body from the damaging effects of unstable molecules called free radicals. A shortage (deficiency) of vitamin E can lead to neurological problems, such as difficulty coordinating movements (ataxia) and speech (dysarthria), loss of reflexes in the legs (lower limb areflexia), and a loss of sensation in the extremities (peripheral neuropathy). Some people with this condition have developed an eye disorder called retinitis pigmentosa that causes vision loss. Most people who have ataxia with vitamin E deficiency start to experience problems with movement between the ages of 5 and 15 years. The movement problems tend to worsen with age.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "what research (or clinical trials) is being done for Kidney Disease ?"}, {"role": "assistant", "content": "Many areas of Research Researchers are working at every stage of kidney disease to improve diagnosis and treatment, including - trying to find a better way to identify who is at greatest risk for rapidly progressing kidney disease - trying to find more effective medications to treat kidney disease and its risk factors, and - improving dialysis and the results of kidney transplantation. trying to find a better way to identify who is at greatest risk for rapidly progressing kidney disease trying to find more effective medications to treat kidney disease and its risk factors, and improving dialysis and the results of kidney transplantation. Several areas of research supported by the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) hold great potential. Emphasis is being placed on research related to prevention and early intervention in kidney disease. Interaction With Other Diseases Another focus is on the interaction between kidney disease, diabetes, and cardiovascular (heart) disease. Advances in treatments for diabetes and high blood pressure may help reduce the damage these conditions do to the kidneys in the first place. Research into how to predict who will develop kidney disease may improve prevention. Disease Progression NIDDK is sponsoring a major study -- the Chronic Renal Insufficiency Cohort (CRIC) study -- to learn more about how kidney disease progresses. CRIC is following 6,000 adults with mild to moderate kidney disease. About half have diabetes. It is believed that some CRIC study participants' kidney function will decline more rapidly than others', and that some will develop cardiovascular disease while others won't. The goal of the study is to identify the factors linked to rapid decline of kidney function and the development of cardiovascular disease. The data and specimens collected from study participants will be available to other researchers who are studying kidney disease and cardiovascular disease. The CRIC study will allow future investigation into the role of genetic, environmental, behavioral, nutritional, and other factors in kidney disease. Learn more about the CRIC Study. Improving Transplants In the area of transplantation, researchers are working to develop new drugs that help the body accept donated organs. The goal is to help transplanted kidneys survive longer and work better. NIDDK scientists are also developing new techniques to improve the body's tolerance for foreign tissue even before the donated kidney is transplanted. This could help reduce or eliminate the need for drugs that suppress the immune system, which could reduce transplantation costs and complications. In the future, scientists may even develop an artificial kidney for implantation.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by achromatopsia ?"}, {"role": "assistant", "content": "Achromatopsia affects an estimated 1 in 30,000 people worldwide. Complete achromatopsia is more common than incomplete achromatopsia. Complete achromatopsia occurs frequently among Pingelapese islanders, who live on one of the Eastern Caroline Islands of Micronesia. Between 4 and 10 percent of people in this population have a total absence of color vision.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Chronic Fatigue Syndrome (CFS) ?"}, {"role": "assistant", "content": "Despite a vigorous search, scientists have not yet identified what causes CFS. While a single cause for CFS may yet be identified, another possibility is that CFS has multiple causes. Conditions that have been studied to determine if they cause or trigger the development of CFS include infections, immune disorders, stress, trauma, and toxins.\n Infection\n \nVarious types of infections have been studied to determine if they might cause or trigger CFS:\n \n - Candida albicans, a fungus that causes yeast infections\n - Mycoplasma, a cause of atypical pneumonia\n - Ross River virus, which causes Ross River Fever, a mosquito-borne tropical disease\n \n Could One Type of Infection Lead to CFS?\n \nResearchers from around the world have studied if a single type of infection might be the cause of CFS, analyzed the data, and not yet found any association between CFS and infection. Researchers are still analyzing samples from CFS patients using the latest molecular methods to search for previously unknown infections (pathogen discovery). To date, these studies suggest that no one infection or pathogen causes CFS and that the illness may be triggered by a variety of illnesses or conditions. In fact, infection with Epstein-Barr virus, Ross River virus, and Coxiella burnetti will lead to a post-infective condition that meets the criteria for CFS in approximately 10-12% of cases. People who had severe symptoms when they became infected were more likely than those with mild symptoms to later develop CFS symptoms. The possibility remains that there may be a variety of different ways in which patients can develop CFS.\n Immune System and Allergies\n \nStudies have looked to see if changes in a person's immune system might lead to CFS. The findings have been mixed. Similarities in symptoms from immune responses to infection and CFS lead to hypotheses that CFS may be caused by stress or a viral infection, which may lead to the chronic production of cytokines and then to CFS.\n \nAntibodies against normal parts of the body (auto-antibodies) and immune complexes have been seen in some CFS patients. However, no associated tissue damage typical of autoimmune disease has been described in CFS patients. The opportunistic infections or increased risk for cancer observed in persons with immunodeficiency diseases or in immunosuppressed individuals is also not observed in CFS.\n \nT-cell activation markers have been reported to be different between groups of CFS patients and healthy persons, but not all investigators have consistently observed these differences.\n \nAllergic diseases and secondary illnesses such as sinusitis could be one predisposing factor for CFS, but not all CFS patients have allergies. Many patients do, however, report intolerances for certain substances that may be found in foods or over-the-counter medications, such as alcohol.\n \n \n Hypothalamic-Pituitary Adrenal (HPA) Axis\n \nThe central nervous system plays an important role in CFS. Physical or emotional stress, which is commonly reported as a pre-onset condition in CFS patients, alters the activity of the hypothalamic-pituitary-adrenal axis, or HPA axis, leading to altered release of corticotrophin-releasing hormone (CRH), cortisol, and other hormones. These hormones can influence the immune system and many other body systems.\n \nSome CFS patients produce lower levels of cortisol than do healthy people. Similar hormonal abnormalities have also been observed among CFS patients and in persons with related disorders like fibromyalgia. Cortisol suppresses inflammation and cellular immune activation, and reduced levels might relax constraints on inflammatory processes and immune cell activation. Even though CFS patients had lower levels of cortisol than healthy individuals, their cortisol levels were still within the acceptable range of what is considered normal. Therefore, doctors cannot use cortisol levels as a way to diagnose CFS.\n \n \n Abnormally Low Blood Pressure and Lightheadedness (Neurally Mediated Hypotension)\n \nDisturbances in the autonomic regulation of blood pressure and pulse have been found in CFS patients. This problem with maintaining blood pressure can be diagnosed by using tilt table testing, which involves laying the patient horizontally on a table and then tilting the table upright to 70 degrees for 45 minutes while monitoring blood pressure and heart rate. Persons with neurally mediated hypotension (NMH) or postural orthostatic tachycardia (POTS) will develop lower blood pressure under these conditions, as well as other characteristic symptoms, such as lightheadedness, visual dimming, or a slow response to verbal stimuli. Others may develop an unusually rapid heart rate also associated with the symptoms of the syndrome. Many CFS patients experience lightheadedness or worsened fatigue when they stand for prolonged periods or when in warm places, such as in a hot shower -- all circumstances that are known to trigger NMH or POTS.\n \nNMH and/or POTS share some of the symptoms of CFS. They should be considered in a CFS patients whose symptoms are worsened with changes in position, after eating, following unusual amounts of or inadequate fluid intake, or increases in activity. Not all patients with CFS will have these conditions, however.\n \n \n Nutritional Deficiency\n \nThere is no published scientific evidence that CFS is caused by a nutritional deficiency. While evidence is currently lacking for nutritional defects in CFS patients, it should also be added that a balanced diet can be favorable to better health in general and would be expected to benefit a person with any chronic illness.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "what research (or clinical trials) is being done for Anal Cancer ?"}, {"role": "assistant", "content": "New types of treatment are being tested in clinical trials.\n This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. Radiosensitizers Radiosensitizers are drugs that make tumor cells more sensitive to radiation therapy. Combining radiation therapy with radiosensitizers may kill more tumor cells.\n \n \n Patients may want to think about taking part in a clinical trial.\n For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward.\n \n \n Patients can enter clinical trials before, during, or after starting their cancer treatment.\n Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Early-onset, autosomal dominant Alzheimer disease inherited ?"}, {"role": "assistant", "content": "How is early-onset, autosomal dominant Alzheimer disease inherited? Early-onset, autosomal dominant Alzheimer disease is inherited in an autosomal dominant manner. This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene. These cases occur in people with no history of the disorder in their family. A person with this condition has a 50% chance with each pregnancy of passing along the altered gene to his or her child.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Lennox-Gastaut Syndrome ?"}, {"role": "assistant", "content": "Treatment for Lennox-Gastaut syndrome includes clobazam and anti-epileptic medications such as valproate, lamotrigine, felbamate, or topiramate. There is usually no single antiepileptic medication that will control seizures. Children who improve initially may later show tolerance to a drug or have uncontrollable seizures.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by globozoospermia ?"}, {"role": "assistant", "content": "Globozoospermia is a rare condition that is estimated to affect 1 in 65,000 men. It is most common in North Africa, where it accounts for approximately 1 in 100 cases of male infertility.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Diabetes, Heart Disease, and Stroke ?"}, {"role": "assistant", "content": "Prediabetes is a condition in which blood glucose levels are higher than normal but not high enough for a diagnosis of diabetes. Prediabetes is also called impaired fasting glucose or impaired glucose tolerance. Many people with prediabetes develop type 2 diabetes within 10 years. In addition, they are at risk for heart disease and stroke. With modest weight loss and moderate physical activity, people with prediabetes can delay or prevent type 2 diabetes and lower their risk of heart disease and stroke.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Dry Mouth ?"}, {"role": "assistant", "content": "Yes. More than 400 medicines, including some over-the-counter medications, can cause the salivary glands to make less saliva, or to change the composition of the saliva so that it can't perform the functions it should. As an example, medicines for urinary incontinence, allergies, high blood pressure, and depression often cause dry mouth.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) celiac disease ?"}, {"role": "assistant", "content": "Celiac disease is a condition in which the immune system is abnormally sensitive to gluten, a protein found in wheat, rye, and barley. Celiac disease is an autoimmune disorder; autoimmune disorders occur when the immune system malfunctions and attacks the body's own tissues and organs. Without a strict, lifelong gluten-free diet, inflammation resulting from immune system overactivity may cause a wide variety of signs and symptoms involving many parts of the body. Celiac disease can develop at any age after an individual starts eating foods containing gluten. The classic symptoms of the condition result from inflammation affecting the gastrointestinal tract. This inflammation damages the villi, which are small, finger-like projections that line the small intestine and provide a greatly increased surface area to absorb nutrients. In celiac disease, the villi become shortened and eventually flatten out. Intestinal damage causes diarrhea and poor absorption of nutrients, which may lead to weight loss. Abdominal pain, swelling (distention), and food intolerances are common in celiac disease. Inflammation associated with celiac disease may lead to an increased risk of developing certain gastrointestinal cancers such as cancers of the small intestine or esophagus. Inflammation and poor nutrient absorption may lead to problems affecting many other organs and systems of the body in affected individuals. These health problems may include iron deficiency that results in a low number of red blood cells (anemia), vitamin deficiencies, low bone mineral density (osteoporosis), itchy skin rashes (dermatitis herpetiformis), defects in the enamel of the teeth, chronic fatigue, joint pain, poor growth, delayed puberty, infertility, or repeated miscarriages. Neurological problems have also been associated with celiac disease; these include migraine headaches, depression, attention deficit hyperactivity disorder (ADHD), and recurrent seizures (epilepsy). Many people with celiac disease have one or more of these varied health problems but do not have gastrointestinal symptoms. This form of the condition is called nonclassic celiac disease. Researchers now believe that nonclassic celiac disease is actually more common than the classic form. Celiac disease often goes undiagnosed because many of its signs and symptoms are nonspecific, which means they may occur in many disorders. Most people who have one or more of these nonspecific health problems do not have celiac disease. On average, a diagnosis of celiac disease is not made until 6 to 10 years after symptoms begin. Some people have silent celiac disease, in which they have no symptoms of the disorder. However, people with silent celiac disease do have immune proteins in their blood (antibodies) that are common in celiac disease. They also have inflammatory damage to their small intestine that can be detected with a biopsy. In a small number of cases, celiac disease does not improve with a gluten-free diet and progresses to a condition called refractory sprue. Refractory sprue is characterized by chronic inflammation of the gastrointestinal tract, poor absorption of nutrients, and an increased risk of developing a type of cancer of the immune cells called T-cell lymphoma.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Microsomia hemifacial radial defects ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Microsomia hemifacial radial defects? The Human Phenotype Ontology provides the following list of signs and symptoms for Microsomia hemifacial radial defects. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia of the radius 90% Aplasia/Hypoplasia of the thumb 90% Facial asymmetry 90% Atresia of the external auditory canal 50% Cognitive impairment 50% Complete atrioventricular canal defect 50% Preauricular skin tag 50% Renal hypoplasia/aplasia 50% Sacrococcygeal pilonidal abnormality 50% Sensorineural hearing impairment 50% Short stature 50% Vertebral segmentation defect 50% Abnormality of the genital system 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Aplasia/Hypoplasia of the lungs 7.5% Cleft eyelid 7.5% Cleft palate 7.5% Conductive hearing impairment 7.5% Ectopic anus 7.5% Maternal diabetes 7.5% Non-midline cleft lip 7.5% Preaxial hand polydactyly 7.5% Triphalangeal thumb 7.5% Wide mouth 7.5% Autosomal dominant inheritance - Complete duplication of thumb phalanx - Microtia - Preauricular pit - Short mandibular rami - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is the outlook for Orthostatic Hypotension ?"}, {"role": "assistant", "content": "The prognosis for individuals with orthostatic hypotension depends on the underlying cause of the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Silver syndrome inherited ?"}, {"role": "assistant", "content": "Silver syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In these cases, the affected person inherits the mutation from one affected parent. However, some people who inherit the altered gene never develop features of Silver syndrome. (This situation is known as reduced penetrance.) It is unclear why some people with a mutated gene develop the disease and other people with a mutated gene do not. Rarely, Silver syndrome is caused by new mutations in the gene and occurs in people with no history of the disorder in their family.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Prolactinoma ?"}, {"role": "assistant", "content": "In some people, high blood levels of prolactin can be traced to causes other than prolactinoma.\n \nPrescription drugs. Prolactin secretion in the pituitary is normally suppressed by the brain chemical dopamine. Drugs that block the effects of dopamine at the pituitary or deplete dopamine stores in the brain may cause the pituitary to secrete prolactin. These drugs include older antipsychotic medications such as trifluoperazine (Stelazine) and haloperidol (Haldol); the newer antipsychotic drugs risperidone (Risperdal) and molindone (Moban); metoclopramide (Reglan), used to treat gastroesophageal reflux and the nausea caused by certain cancer drugs; and less often, verapamil, alpha-methyldopa (Aldochlor, Aldoril), and reserpine (Serpalan, Serpasil), used to control high blood pressure. Some antidepressants may cause hyperprolactinemia, but further research is needed.\n \nOther pituitary tumors. Other tumors arising in or near the pituitary may block the flow of dopamine from the brain to the prolactin-secreting cells. Such tumors include those that cause acromegaly, a condition caused by too much growth hormone, and Cushing's syndrome, caused by too much cortisol. Other pituitary tumors that do not result in excess hormone production may also block the flow of dopamine.\n \nHypothyroidism. Increased prolactin levels are often seen in people with hypothyroidism, a condition in which the thyroid does not produce enough thyroid hormone. Doctors routinely test people with hyperprolactinemia for hypothyroidism.\n \nChest involvement. Nipple stimulation also can cause a modest increase in the amount of prolactin in the blood. Similarly, chest wall injury or shingles involving the chest wall may also cause hyperprolactinemia.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Heart Valve Disease ?"}, {"role": "assistant", "content": "Your primary care doctor may detect a heart murmur or other signs of heart valve disease. However, a cardiologist usually will diagnose the condition. A cardiologist is a doctor who specializes in diagnosing and treating heart problems.\n \nTo diagnose heart valve disease, your doctor will ask about your signs and symptoms. He or she also will do a physical exam and look at the results from tests and procedures.\n \nPhysical Exam\n \nYour doctor will listen to your heart with a stethoscope. He or she will want to find out whether you have a heart murmur that's likely caused by a heart valve problem.\n \nYour doctor also will listen to your lungs as you breathe to check for fluid buildup. He or she will check for swollen ankles and other signs that your body is retaining water.\n \nTests and Procedures\n \nEchocardiography (echo) is the main test for diagnosing heart valve disease. But an EKG (electrocardiogram) or chest x ray commonly is used to reveal certain signs of the condition. If these signs are present, echo usually is done to confirm the diagnosis.\n \nYour doctor also may recommend other tests and procedures if you're diagnosed with heart valve disease. For example, you may have cardiac catheterization, (KATH-eh-ter-ih-ZA-shun), stress testing, or cardiac MRI (magnetic resonance imaging). These tests and procedures help your doctor assess how severe your condition is so he or she can plan your treatment.\n \nEKG\n \nThis simple test detects and records the heart's electrical activity. An EKG can detect an irregular heartbeat and signs of a previous heart attack. It also can show whether your heart chambers are enlarged.\n \nAn EKG usually is done in a doctor's office.\n \nChest X Ray\n \nThis test can show whether certain sections of your heart are enlarged, whether you have fluid in your lungs, or whether calcium deposits are present in your heart.\n \nA chest x ray helps your doctor learn which type of valve defect you have, how severe it is, and whether you have any other heart problems.\n \nEchocardiography\n \nEcho uses sound waves to create a moving picture of your heart as it beats. A device called a transducer is placed on the surface of your chest.\n \nThe transducer sends sound waves through your chest wall to your heart. Echoes from the sound waves are converted into pictures of your heart on a computer screen.\n \nEcho can show:\n \nThe size and shape of your heart valves and chambers\n \nHow well your heart is pumping blood\n \nWhether a valve is narrow or has backflow\n \nYour doctor may recommend transesophageal (tranz-ih-sof-uh-JEE-ul) echo, or TEE, to get a better image of your heart.\n \nDuring TEE, the transducer is attached to the end of a flexible tube. The tube is guided down your throat and into your esophagus (the passage leading from your mouth to your stomach). From there, your doctor can get detailed pictures of your heart.\n \nYou'll likely be given medicine to help you relax during this procedure.\n \nCardiac Catheterization\n \nFor this procedure, a long, thin, flexible tube called a catheter is put into a blood vessel in your arm, groin (upper thigh), or neck and threaded to your heart. Your doctor uses x-ray images to guide the catheter.\n \nThrough the catheter, your doctor does diagnostic tests and imaging that show whether backflow is occurring through a valve and how fully the valve opens. You'll be given medicine to help you relax, but you will be awake during the procedure.\n \nYour doctor may recommend cardiac catheterization if your signs and symptoms of heart valve disease aren't in line with your echo results.\n \nThe procedure also can help your doctor assess whether your symptoms are due to specific valve problems or coronary heart disease. All of this information helps your doctor decide the best way to treat you.\n \nStress Test\n \nDuring stress testing, you exercise to make your heart work hard and beat fast while heart tests and imaging are done. If you can't exercise, you may be given medicine to raise your heart rate.\n \nA stress test can show whether you have signs and symptoms of heart valve disease when your heart is working hard. It can help your doctor assess the severity of your heart valve disease.\n \nCardiac MRI\n \nCardiac MRI uses a powerful magnet and radio waves to make detailed images of your heart. A cardiac MRI image can confirm information about valve defects or provide more detailed information.\n \nThis information can help your doctor plan your treatment. An MRI also may be done before heart valve surgery to help your surgeon plan for the surgery.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by van der Woude syndrome ?"}, {"role": "assistant", "content": "Van der Woude syndrome is believed to occur in 1 in 35,000 to 1 in 100,000 people, based on data from Europe and Asia. Van der Woude syndrome is the most common cause of cleft lip and palate resulting from variations in a single gene, and this condition accounts for approximately 1 in 50 such cases.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to benign recurrent intrahepatic cholestasis ?"}, {"role": "assistant", "content": "Mutations in the ATP8B1 gene cause benign recurrent intrahepatic cholestasis type 1 (BRIC1), and mutations in the ABCB11 gene cause benign recurrent intrahepatic cholestasis type 2 (BRIC2). These two genes are involved in the release (secretion) of bile, a fluid produced by the liver that helps digest fats. The ATP8B1 gene provides instructions for making a protein that helps to control the distribution of certain fats, called lipids, in the membranes of liver cells. This function likely plays a role in maintaining an appropriate balance of bile acids, a component of bile. This process, known as bile acid homeostasis, is critical for the normal secretion of bile and the proper functioning of liver cells. Although the mechanism is unclear, mutations in the ATP8B1 gene result in the buildup of bile acids in liver cells. The imbalance of bile acids leads to the signs and symptoms of BRIC1. The ABCB11 gene provides instructions for making a protein called the bile salt export pump (BSEP). This protein is found in the liver, and its main role is to move bile salts (a component of bile) out of liver cells. Mutations in the ABCB11 gene result in a reduction of BSEP function. This reduction leads to a decrease of bile salt secretion, which causes the features of BRIC2. The factors that trigger episodes of BRIC are unknown. Some people with BRIC do not have a mutation in the ATP8B1 or ABCB11 gene. In these individuals, the cause of the condition is unknown.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for X-linked lymphoproliferative disease ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of XLP: - Children's Hospital of Philadelphia - Gene Review: Gene Review: Lymphoproliferative Disease, X-Linked - Genetic Testing Registry: Lymphoproliferative syndrome 1, X-linked - Genetic Testing Registry: Lymphoproliferative syndrome 2, X-linked - MedlinePlus Encyclopedia: Epstein-Barr Virus Test - Merck Manual for Healthcare Professionals - XLP Research Trust: Immunoglobulin Replacement - XLP Research Trust: Preparing for Bone Marrow Transplant These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What to do for What I need to know about Gas ?"}, {"role": "assistant", "content": "Your eating habits and diet affect the amount of gas you have. For example, eating and drinking too fast can cause you to swallow more air. And you may have more gas after you eat certain carbohydrates.\n \nTrack what you eat and your gas symptoms to find out what foods cause you to have more gas. Avoid or eat less of the foods that cause your gas symptoms.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to phosphoglycerate mutase deficiency ?"}, {"role": "assistant", "content": "Phosphoglycerate mutase deficiency is caused by mutations in the PGAM2 gene. This gene provides instructions for making an enzyme called phosphoglycerate mutase, which is involved in a critical energy-producing process in cells known as glycolysis. During glycolysis, the simple sugar glucose is broken down to produce energy. The version of phosphoglycerate mutase produced from the PGAM2 gene is found primarily in skeletal muscle cells. Mutations in the PGAM2 gene greatly reduce the activity of phosphoglycerate mutase, which disrupts energy production in these cells. This defect underlies the muscle cramping and myoglobinuria that occur after strenuous exercise in affected individuals.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) prion disease ?"}, {"role": "assistant", "content": "Prion disease represents a group of conditions that affect the nervous system in humans and animals. In people, these conditions impair brain function, causing changes in memory, personality, and behavior; a decline in intellectual function (dementia); and abnormal movements, particularly difficulty with coordinating movements (ataxia). The signs and symptoms of prion disease typically begin in adulthood and worsen with time, leading to death within a few months to several years.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) fumarase deficiency ?"}, {"role": "assistant", "content": "Fumarase deficiency is a condition that primarily affects the nervous system, especially the brain. Affected infants may have an abnormally small head size (microcephaly), abnormal brain structure, severe developmental delay, weak muscle tone (hypotonia), and failure to gain weight and grow at the expected rate (failure to thrive). They may also experience seizures. Some people with this disorder have unusual facial features, including a prominent forehead (frontal bossing), low-set ears, a small jaw (micrognathia), widely spaced eyes (ocular hypertelorism), and a depressed nasal bridge. An enlarged liver and spleen (hepatosplenomegaly) may also be associated with this disorder, as well as an excess of red blood cells (polycythemia) or deficiency of white blood cells (leukopenia) in infancy. Affected individuals usually survive only a few months, but a few have lived into early adulthood.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to prevent Heart Disease in Women ?"}, {"role": "assistant", "content": "Taking action to control your risk factors can help prevent or delaycoronary heart disease(CHD). Your risk for CHD increases with the number of CHD risk factors you have.\n \nOne step you can take is to adopt a heart healthy lifestyle. A heart healthy lifestyle should be part of a lifelong approach to healthy living.\n \nFor example, if you smoke, try to quit. Smoking can raise your risk for CHD andheart attackand worsen other CHD risk factors. Talk with your doctor about programs and products that can help you quit. Also, try to avoid secondhand smoke.\n \nFor more information about quitting smoking, go to the Health Topics Smoking and Your Heart article and the National Heart, Lung, and Blood Institute's (NHLBI's) \"Your Guide to a Healthy Heart.\"\n \nFollowing a healthy diet also is an important part of a healthy lifestyle. A healthy diet includes a variety of vegetables and fruits. It also includes whole grains, fat-free or low-fat dairy products, and protein foods, such as lean meats, poultry without skin, seafood, processed soy products, nuts, seeds, beans, and peas.\n \nA healthy diet is low in sodium (salt), added sugars, solid fats, and refined grains. Solid fats are saturated fat and trans fatty acids. Refined grains come from processing whole grains, which results in a loss of nutrients (such as dietary fiber).\n \nThe NHLBI's Therapeutic Lifestyle Changes (TLC) and Dietary Approaches to Stop Hypertension (DASH) are two programs that promote healthy eating.\n \nIf you'reoverweight or obese, work with your doctor to create a reasonable weight-loss plan. Controlling your weight helps you control CHD risk factors.\n \nBe as physically active as you can. Physical activity can improve your fitness level and your health. Talk with your doctor about what types of activity are safe for you.\n \nFor more information about physical activity, go to the Health Topics Physical Activity and Your Heart article and the NHLBI's \"Your Guide to Physical Activity and Your Heart.\"\n \nKnow your family history of CHD. If you or someone in your family has CHD, be sure to tell your doctor.\n \nIf lifestyle changes aren't enough, you also may need medicines to control your CHD risk factors. Take all of your medicines as prescribed.\n \nFor more information about lifestyle changes and medicines, go to \"How Is Heart Disease Treated?\"", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Aplastic Anemia ?"}, {"role": "assistant", "content": "Aplastic anemia is a rare but serious blood disorder. If you have it, your bone marrow doesn't make enough new blood cells. Causes include - Toxic substances, such as pesticides, arsenic, and benzene - Radiation therapy and chemotherapy for cancer - Certain medicines - Infections such as hepatitis, Epstein-Barr virus, or HIV - Autoimmune disorders - Certain inherited conditions - Pregnancy In many people, the cause is unknown. Symptoms include fatigue, weakness, dizziness, and shortness of breath. It can cause heart problems such as an irregular heartbeat, an enlarged heart, and heart failure. You may also have frequent infections and bleeding. Your doctor will diagnose aplastic anemia based on your medical and family histories, a physical exam, and test results. Once your doctor knows the cause and severity of the condition, he or she can create a treatment plan for you. Treatments include blood transfusions, blood and marrow stem cell transplants, and medicines. NIH: National Heart, Lung, and Blood Institute", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Speech and Language Problems in Children ?"}, {"role": "assistant", "content": "Children vary in their development of speech and language skills. Health professionals have milestones for what's normal. These milestones help determine if a child is on track or if he or she may need extra help. For example, a child usually has one or two words like \"Hi,\" \"dog,\" \"Dada,\" or \"Mama\" by her first birthday. Sometimes a delay may be caused by hearing loss, while other times it may be due to a speech or language disorder. Language disorders can mean that the child has trouble understanding what others say or difficulty sharing her thoughts. Children who have trouble producing speech sounds correctly or who hesitate or stutter when talking may have a speech disorder. If your child's speech or language appears to be delayed, talk to your child's doctor. NIH: National Institute on Deafness and Other Communication Disorders", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for 2q37 deletion syndrome ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of 2q37 deletion syndrome: - Gene Review: Gene Review: 2q37 Microdeletion Syndrome - Genetic Testing Registry: Brachydactyly-Mental Retardation syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of SeSAME syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of SeSAME syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for SeSAME syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Short stature 7.5% Chronic axonal neuropathy 5% Peripheral hypomyelination 5% Autosomal recessive inheritance - Cerebellar atrophy - Delayed speech and language development - Dysdiadochokinesis - Enuresis - Hyperaldosteronism - Hypocalciuria - Hypokalemia - Hypokalemic metabolic alkalosis - Hypomagnesemia - Increased circulating renin level - Infantile onset - Intellectual disability - Intention tremor - Muscular hypotonia - Polydipsia - Polyuria - Renal potassium wasting - Renal salt wasting - Renal sodium wasting - Salt craving - Seizures - Sensorineural hearing impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Bietti crystalline dystrophy ?"}, {"role": "assistant", "content": "Bietti crystalline dystrophy is a disorder in which numerous small, yellow or white crystal-like deposits of fatty (lipid) compounds accumulate in the light-sensitive tissue that lines the back of the eye (the retina). The deposits damage the retina, resulting in progressive vision loss. People with Bietti crystalline dystrophy typically begin noticing vision problems in their teens or twenties. They experience a loss of sharp vision (reduction in visual acuity) and difficulty seeing in dim light (night blindness). They usually lose areas of vision (visual field loss), most often side (peripheral) vision. Color vision may also be impaired. The vision problems may worsen at different rates in each eye, and the severity and progression of symptoms varies widely among affected individuals, even within the same family. However, most people with this condition become legally blind by their forties or fifties. Most affected individuals retain some degree of vision, usually in the center of the visual field, although it is typically blurry and cannot be corrected by glasses or contact lenses. Vision impairment that cannot be improved with corrective lenses is called low vision.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to prevent Hearing Loss ?"}, {"role": "assistant", "content": "Causes of Hearing Loss Hearing loss happens for many reasons. Some people lose their hearing slowly as they age. This condition is called presbycusis. Doctors do not know why presbycusis happens, but it seems to run in families. Another cause is the ear infection otitis media, which can lead to long-term hearing loss if it is not treated. Hearing loss can also result from taking certain medications. \"Ototoxic\" medications damage the inner ear, sometimes permanently. Some antibiotics are ototoxic. Even aspirin at some dosages can cause problems, but they are temporary. Check with your doctor if you notice a problem while taking a medication. Heredity can cause hearing loss, but not all inherited forms of hearing loss take place at birth. Some forms can show up later in life. In otosclerosis, which is thought to be a hereditary disease, an abnormal growth of bone prevents structures within the ear from working properly. A severe blow to the head also can cause hearing loss. Loud Noise Can Cause Hearing Loss One of the most common causes of hearing loss is loud noise. Loud noise can permanently damage the inner ear. Loud noise also contributes to tinnitus, which is a ringing, roaring, clicking, hissing, or buzzing sound in the ears. Approximately 15 percent (26 million) of Americans between the ages of 20 and 69 have high frequency hearing loss due to exposure to loud sounds or noise at work or in leisure activities. Avoiding Noise-Induced Hearing Loss Noise-induced hearing loss is 100 percent preventable. You can protect your hearing by avoiding noises at or above 85 decibels in loudness, which can damage your inner ear. These include gas lawnmowers, snowblowers, motorcycles, firecrackers, and loud music. Lower the volume on personal stereo systems and televisions. When you are involved in a loud activity, wear earplugs or other hearing protective devices. Be sure to protect children's ears too. Although awareness of noise levels is important, you should also be aware of how far away you are from loud noise and how long you are exposed to it. Avoid noises that are too loud (85 decibels and above). Reduce the sound if you can, or wear ear protection if you cannot. Potential damage from noise is caused by the loudness of the sound and the amount of time you are exposed to it. If you experience tinnitus or have trouble hearing after noise exposure, then you have been exposed to too much noise. Other Ways to Prevent Hearing Loss There are other ways to prevent hearing loss. - If earwax blockage is a problem for you, ask you doctor about treatments you can use at home such as mineral oil, baby oil, glycerin, or commercial ear drops to soften earwax. - If you suspect that you may have a hole in your eardrum, you should consult a doctor before using such products. A hole in the eardrum can result in hearing loss and fluid discharge. - The ear infection otitis media is most common in children, but adults can get it, too. You can help prevent upper respiratory infections -- and a resulting ear infection -- by washing your hands frequently. - Ask your doctor about how to help prevent flu-related ear infections. If you still get an ear infection, see a doctor immediately before it becomes more serious. - If you take medications, ask your doctor if your medication is ototoxic, or potentially damaging to the ear. Ask if other medications can be used instead. If not, ask if the dosage can be safely reduced. Sometimes it cannot. However, your doctor should help you get the medication you need while trying to reduce unwanted side effects. If earwax blockage is a problem for you, ask you doctor about treatments you can use at home such as mineral oil, baby oil, glycerin, or commercial ear drops to soften earwax. If you suspect that you may have a hole in your eardrum, you should consult a doctor before using such products. A hole in the eardrum can result in hearing loss and fluid discharge. The ear infection otitis media is most common in children, but adults can get it, too. You can help prevent upper respiratory infections -- and a resulting ear infection -- by washing your hands frequently. Ask your doctor about how to help prevent flu-related ear infections. If you still get an ear infection, see a doctor immediately before it becomes more serious. If you take medications, ask your doctor if your medication is ototoxic, or potentially damaging to the ear. Ask if other medications can be used instead. If not, ask if the dosage can be safely reduced. Sometimes it cannot. However, your doctor should help you get the medication you need while trying to reduce unwanted side effects.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to Werner syndrome ?"}, {"role": "assistant", "content": "Mutations in the WRN gene cause Werner syndrome. The WRN gene provides instructions for producing the Werner protein, which is thought to perform several tasks related to the maintenance and repair of DNA. This protein also assists in the process of copying (replicating) DNA in preparation for cell division. Mutations in the WRN gene often lead to the production of an abnormally short, nonfunctional Werner protein. Research suggests that this shortened protein is not transported to the cell's nucleus, where it normally interacts with DNA. Evidence also suggests that the altered protein is broken down more quickly in the cell than the normal Werner protein. Researchers do not fully understand how WRN mutations cause the signs and symptoms of Werner syndrome. Cells with an altered Werner protein may divide more slowly or stop dividing earlier than normal, causing growth problems. Also, the altered protein may allow DNA damage to accumulate, which could impair normal cell activities and cause the health problems associated with this condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Thalamic degeneration, symmetric infantile ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Thalamic degeneration, symmetric infantile? The Human Phenotype Ontology provides the following list of signs and symptoms for Thalamic degeneration, symmetric infantile. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Hypertonia 90% Incoordination 90% Respiratory insufficiency 90% Abnormality of neuronal migration 50% Abnormality of the voice 50% Arrhythmia 50% Seizures 50% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Pars planitis ?"}, {"role": "assistant", "content": "How might pars planitis be treated? The first approach to treating pars planitis is corticosteroid eye drops or injections near the eye to control inflammation. Non-steroidal anti-inflammatory drugs (NSAIDs, including aspirin) or steroid medications (such as prednisone) can be taken by mouth. If these strategies are not successful, other medications may be given to reduce the body's immune response (medications called immunosuppressants, such as methotrexate). If medications are not effective, surgery may be considered. Cryotherapy has been performed in affected people to remove eye tissue that has inflammation. Although this surgery has been shown to be effective in restoring clarity of vision, there are concerns that it may cause damage to other parts of the eye. Another surgery, known as vitrectomy, can be done to remove cloudy fluid (vitreous humor) from the eye.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is essential thrombocythemia inherited ?"}, {"role": "assistant", "content": "Most cases of essential thrombocythemia are not inherited. Instead, the condition arises from gene mutations that occur in early blood-forming cells after conception. These alterations are called somatic mutations. Less commonly, essential thrombocythemia is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. When it is inherited, the condition is called familial essential thrombocythemia.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Deafness nephritis anorectal malformation ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Deafness nephritis anorectal malformation? The Human Phenotype Ontology provides the following list of signs and symptoms for Deafness nephritis anorectal malformation. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anal atresia - Autosomal dominant inheritance - Rectovaginal fistula - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Congenital contractural arachnodactyly inherited ?"}, {"role": "assistant", "content": "How is congenital contractural arachnodactyly inherited? This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from an affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Mannosidosis, beta A, lysosomal ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Mannosidosis, beta A, lysosomal? The Human Phenotype Ontology provides the following list of signs and symptoms for Mannosidosis, beta A, lysosomal. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal facial shape 90% Aplasia/Hypoplasia of the abdominal wall musculature 90% Cognitive impairment 90% Hearing impairment 90% Recurrent respiratory infections 90% Seizures 90% Demyelinating peripheral neuropathy 5% Abnormality of metabolism/homeostasis - Aggressive behavior - Angiokeratoma - Autosomal recessive inheritance - Hyperactivity - Increased urinary disaccharide excretion - Intellectual disability - Muscular hypotonia - Neurological speech impairment - Tortuosity of conjunctival vessels - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Alzheimer's Disease ?"}, {"role": "assistant", "content": "Currently, no treatment can stop Alzheimer's disease. However, four medications are used to treat its symptoms. These medicines may help maintain thinking, memory, and speaking skills for a limited time. They work by regulating certain chemicals in the brain. Most of these medicines work best for people in the early or middle stages of the disease. For people with mild or moderate Alzheimer's, donepezil (Aricept), rivastigmine (Exelon), or galantamine (Razadyne) may help. Donepezil is also approved to treat symptoms of moderate to severe Alzheimer's. Another drug, memantine (Namenda), is used to treat symptoms of moderate to severe Alzheimer's, although it also has limited effects. All of these medicines have possible side effects. Learn how Alzheimers medications work, how to take them, and where to find more information. Certain medicines and other approaches can help control the behavioral symptoms of Alzheimer's disease. These symptoms include sleeplessness, agitation, wandering, anxiety, anger, and depression. See more about medications used to treat behavioral symptoms. Some medicines must be used with caution.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) gyrate atrophy of the choroid and retina ?"}, {"role": "assistant", "content": "Gyrate atrophy of the choroid and retina, which is often shortened to gyrate atrophy, is an inherited disorder characterized by progressive vision loss. People with this disorder have an ongoing loss of cells (atrophy) in the retina, which is the specialized light-sensitive tissue that lines the back of the eye, and in a nearby tissue layer called the choroid. During childhood, they begin experiencing nearsightedness (myopia), difficulty seeing in low light (night blindness), and loss of side (peripheral) vision. Over time, their field of vision continues to narrow, resulting in tunnel vision. Many people with gyrate atrophy also develop clouding of the lens of the eyes (cataracts). These progressive vision changes lead to blindness by about the age of 50. Most people with gyrate atrophy have no symptoms other than vision loss, but some have additional features of the disorder. Occasionally, newborns with gyrate atrophy develop excess ammonia in the blood (hyperammonemia), which may lead to poor feeding, vomiting, seizures, or coma. Neonatal hyperammonemia associated with gyrate atrophy generally responds quickly to treatment and does not recur after the newborn period. Gyrate atrophy usually does not affect intelligence; however, abnormalities may be observed in brain imaging or other neurological testing. In some cases, mild to moderate intellectual disability is associated with gyrate atrophy. Gyrate atrophy may also cause disturbances in the nerves connecting the brain and spinal cord to muscles and sensory cells (peripheral nervous system). In some people with the disorder these abnormalities lead to numbness, tingling, or pain in the hands or feet, while in others they are detectable only by electrical testing of the nerve impulses. In some people with gyrate atrophy, a particular type of muscle fibers (type II fibers) break down over time. While this muscle abnormality usually causes no symptoms, it may result in mild weakness.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by myotonia congenita ?"}, {"role": "assistant", "content": "Myotonia congenita is estimated to affect 1 in 100,000 people worldwide. This condition is more common in northern Scandinavia, where it occurs in approximately 1 in 10,000 people.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for familial Mediterranean fever ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of familial Mediterranean fever: - Gene Review: Gene Review: Familial Mediterranean Fever - Genetic Testing Registry: Familial Mediterranean fever These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) 5-alpha reductase deficiency ?"}, {"role": "assistant", "content": "5-alpha reductase deficiency is a condition that affects male sexual development before birth and during puberty. People with this condition are genetically male, with one X and one Y chromosome in each cell, and they have male gonads (testes). Their bodies, however, do not produce enough of a hormone called dihydrotestosterone (DHT). DHT has a critical role in male sexual development, and a shortage of this hormone disrupts the formation of the external sex organs before birth. Many people with 5-alpha reductase deficiency are born with external genitalia that appear female. In other cases, the external genitalia do not look clearly male or clearly female (sometimes called ambiguous genitalia). Still other affected infants have genitalia that appear predominantly male, often with an unusually small penis (micropenis) and the urethra opening on the underside of the penis (hypospadias). During puberty, people with this condition develop some secondary sex characteristics, such as increased muscle mass, deepening of the voice, development of pubic hair, and a growth spurt. The penis and scrotum (the sac of skin that holds the testes) grow larger. Unlike many men, people with 5-alpha reductase deficiency do not develop much facial or body hair. Most affected males are unable to father a child (infertile). Children with 5-alpha reductase deficiency are often raised as girls. About half of these individuals adopt a male gender role in adolescence or early adulthood.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "what research (or clinical trials) is being done for Paraneoplastic Syndromes ?"}, {"role": "assistant", "content": "Research on paraneoplastic syndromes is aimed at enhancing scientific understanding and evaluating new therapeutic interventions. Researchers seek to learn what causes the autoimmune response in these disorders. Studies are directed at developing tests that detect the presence of antibodies. Scientists also hope to develop animal models for these diseases, which may be used to determine effective treatment strategies.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Do you have information about Health Screening"}, {"role": "assistant", "content": "Summary : Screenings are tests that look for diseases before you have symptoms. Screening tests can find diseases early, when they're easier to treat. You can get some screenings in your doctor's office. Others need special equipment, so you may need to go to a different office or clinic. Some conditions that doctors commonly screen for include - Breast cancer and cervical cancer in women - Colorectal cancer - Diabetes - High blood pressure - High cholesterol - Osteoporosis - Overweight and obesity - Prostate cancer in men Which tests you need depends on your age, your sex, your family history, and whether you have risk factors for certain diseases. After a screening test, ask when you will get the results and whom to talk to about them. Agency for Healthcare Research and Quality", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by mandibuloacral dysplasia ?"}, {"role": "assistant", "content": "Mandibuloacral dysplasia is a rare condition; its prevalence is unknown.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Swallowing Disorders ?"}, {"role": "assistant", "content": "Changing a person's diet by adding thickeners helps many people, as does learning different ways to eat and chew that reduce the risk for aspiration. Occasionally drug therapy that helps the neurological disorder can also help dysphagia. In a few persons, botulinum toxin injections can help when food or liquid cannot enter the esophagus to get to the stomach. More severely disabled individuals may require surgery or the insertion of feeding tubes.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Who is at risk for Gestational Trophoblastic Disease? ?"}, {"role": "assistant", "content": "Age and a previous molar pregnancy affect the risk of GTD. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. Talk to your doctor if you think you may be at risk. Risk factors for GTD include the following: - Being pregnant when you are younger than 20 or older than 35 years of age. - Having a personal history of hydatidiform mole.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Asbestos-Related Lung Diseases ?"}, {"role": "assistant", "content": "Asbestos-related lung diseases are diseases caused by exposure to asbestos (as-BES-tos) fibers. Asbestos is a mineral that, in the past, was widely used in many industries.\n \nAsbestos is made up of tiny fibers that can escape into the air. When breathed in, these fibers can stay in your lungs for a long time. If the fibers build up in your lungs, they can lead to:\n \nPleural plaque. In this condition, the tissue around the lungs and diaphragm (the muscle below your lungs) thickens and hardens. This tissue is called the pleura. Pleural plaque usually causes no symptoms. Rarely, as the pleura thickens, it can trap and compress part of the lung. This may show up as a mass on an x-ray image.\n \nPleural effusion. In this condition, excess fluid builds up in the pleural space. The pleural space is the area between the lungs and the chest wall.\n \nAsbestosis (as-bes-TOE-sis). In this condition, the lung tissue becomes scarred. People who have asbestosis are at greater risk for lung cancer, especially if they smoke.\n \nLung cancer. This type of cancer forms in the lung tissue, usually in the cells lining the air passages.\n \nMesothelioma (MEZ-o-thee-lee-O-ma). This disease is cancer of the pleura.\n \nAsbestos also can cause cancer in the lining of the abdominal cavity. This lining is known as the peritoneum (PER-ih-to-NE-um).\n \nAsbestos-Related Lung Diseases\n \n\n \nOverview\n \nUntil the 1970s, asbestos was widely used in many industries in the United States. For example, it was used to insulate pipes, boilers, and ships; make brakes; strengthen cement; and fireproof many items, such as drywall.\n \nPeople who worked around asbestos during that time are at risk for asbestos-related lung diseases. People at highest risk include:\n \nUnprotected workers who made, installed, or removed products containing asbestos. People who worked near others who did these jobs also are at risk.\n \nFamily members of workers who were exposed to asbestos. Family members may have breathed in asbestos fibers that workers brought home on their clothes, shoes, or bodies.\n \nPeople who live in areas with large deposits of asbestos in the soil. This risk is limited to areas where the deposits were disturbed and asbestos fibers got into the air.\n \nAsbestos fibers also can be released into the air when older buildings containing asbestos-made products are destroyed. Removing these products during building renovations also can release asbestos fibers into the air.\n \nGenerally, being around asbestos-made products isnt a danger as long as the asbestos is enclosed. This prevents the fibers from getting into the air.\n \nPeople in the United States are less likely to have asbestos-related lung diseases now because the mineral is no longer widely used.\n \nThe use of asbestos is heavily restricted, and rules and standards are now in place to protect workers and others from asbestos exposure. Asbestos is found in only a few new products, such as gaskets used in brakes.\n \nHowever, many countries do not yet restrict asbestos use. People in those countries are still exposed to the mineral.\n \nOutlook\n \nThe outlook for people who have asbestos-related lung diseases can vary. It will depend on which disease a person has and how much it has damaged the lungs.\n \nNo treatments can reverse the effects of asbestos on your lungs. However, treatments may help relieve symptoms, slow the progress of the disease, and prevent complications.\n \nIf you've been exposed to asbestos, let your doctor know. He or she can watch you for signs of asbestos-related problems and start treatment early, if needed. Early treatment may help prevent or delay complications.\n \nQuitting smoking and making other lifestyle changes may help people who are at high risk for asbestos-related lung diseases. These lifestyle changes may prevent more serious diseases, such as cancer.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Niemann-Pick disease ?"}, {"role": "assistant", "content": "Niemann-Pick disease is a condition that affects many body systems. It has a wide range of symptoms that vary in severity. Niemann-Pick disease is divided into four main types: type A, type B, type C1, and type C2. These types are classified on the basis of genetic cause and the signs and symptoms of the condition. Infants with Niemann-Pick disease type A usually develop an enlarged liver and spleen (hepatosplenomegaly) by age 3 months and fail to gain weight and grow at the expected rate (failure to thrive). The affected children develop normally until around age 1 year when they experience a progressive loss of mental abilities and movement (psychomotor regression). Children with Niemann-Pick disease type A also develop widespread lung damage (interstitial lung disease) that can cause recurrent lung infections and eventually lead to respiratory failure. All affected children have an eye abnormality called a cherry-red spot, which can be identified with an eye examination. Children with Niemann-Pick disease type A generally do not survive past early childhood. Niemann-Pick disease type B usually presents in mid-childhood. The signs and symptoms of this type are similar to type A, but not as severe. People with Niemann-Pick disease type B often have hepatosplenomegaly, recurrent lung infections, and a low number of platelets in the blood (thrombocytopenia). They also have short stature and slowed mineralization of bone (delayed bone age). About one-third of affected individuals have the cherry-red spot eye abnormality or neurological impairment. People with Niemann-Pick disease type B usually survive into adulthood. The signs and symptoms of Niemann-Pick disease types C1 and C2 are very similar; these types differ only in their genetic cause. Niemann-Pick disease types C1 and C2 usually become apparent in childhood, although signs and symptoms can develop at any time. People with these types usually develop difficulty coordinating movements (ataxia), an inability to move the eyes vertically (vertical supranuclear gaze palsy), poor muscle tone (dystonia), severe liver disease, and interstitial lung disease. Individuals with Niemann-Pick disease types C1 and C2 have problems with speech and swallowing that worsen over time, eventually interfering with feeding. Affected individuals often experience progressive decline in intellectual function and about one-third have seizures. People with these types may survive into adulthood.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Multicentric Castleman Disease ?"}, {"role": "assistant", "content": "What causes multicentric Castleman disease? The exact underlying cause of multicentric Castleman disease (MCD) is poorly understood. However, some scientists suspect that an increased production of interleukin-6 (IL-6) by the immune system may contribute to the development of MCD. IL-6 is a substance normally produced by cells within the lymph nodes that helps coordinate the immune response to infection. Increased production of IL-6 may result in an overgrowth of lymphatic cells, leading to many of the signs and symptoms of MCD. It has also been found that a virus called human herpes virus type 8 (also known as HHV-8, Kaposi's sarcoma-associated herpesvirus, or KSHV) is present in many people with MCD. HHV-8 is found in nearly all people who are HIV-positive and develop MCD, and in up to 60% of affected people without HIV. The HHV-8 virus may possibly cause MCD by making its own IL-6.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Knee Replacement ?"}, {"role": "assistant", "content": "The main reason to have knee replacement surgery is to ease pain and disability caused by arthritis or other joint problems, while preserving movement. Less commonly, it is used to correct some kinds of knee deformity.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is hereditary sensory and autonomic neuropathy type V inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is the outlook for Osteosarcoma and Malignant Fibrous Histiocytoma of Bone ?"}, {"role": "assistant", "content": "Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) is affected by certain factors before and after treatment. The prognosis of untreated osteosarcoma and MFH depends on the following: - Where the tumor is in the body and whether tumors formed in more than one bone. - The size of the tumor. - Whether the cancer has spread to other parts of the body and where it has spread. - The type of tumor (based on how the cancer cells look under a microscope). - The patient's age and weight at diagnosis. - Whether the tumor has caused a break in the bone. - Whether the patient has certain genetic diseases. After osteosarcoma or MFH is treated, prognosis also depends on the following: - How much of the cancer was killed by chemotherapy. - How much of the tumor was taken out by surgery. - Whether chemotherapy is delayed for more than 3 weeks after surgery takes place. - Whether the cancer has recurred (come back) within 2 years of diagnosis. Treatment options for osteosarcoma and MFH depend on the following: - Where the tumor is in the body. - The size of the tumor. - The stage of the cancer. - Whether the bones are still growing. - The patient's age and general health. - The desire of the patient and family for the patient to be able to participate in activities such as sports or have a certain appearance. - Whether the cancer is newly diagnosed or has recurred after treatment.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) familial restrictive cardiomyopathy ?"}, {"role": "assistant", "content": "Familial restrictive cardiomyopathy is a genetic form of heart disease. For the heart to beat normally, the heart (cardiac) muscle must contract and relax in a coordinated way. Oxygen-rich blood from the lungs travels first through the upper chambers of the heart (the atria), and then to the lower chambers of the heart (the ventricles). In people with familial restrictive cardiomyopathy, the heart muscle is stiff and cannot fully relax after each contraction. Impaired muscle relaxation causes blood to back up in the atria and lungs, which reduces the amount of blood in the ventricles. Familial restrictive cardiomyopathy can appear anytime from childhood to adulthood. The first signs and symptoms of this condition in children are failure to gain weight and grow at the expected rate (failure to thrive), extreme tiredness (fatigue), and fainting. Children who are severely affected may also have abnormal swelling or puffiness (edema), increased blood pressure, an enlarged liver, an abnormal buildup of fluid in the abdominal cavity (ascites), and lung congestion. Some children with familial restrictive cardiomyopathy do not have any obvious signs or symptoms, but they may die suddenly due to heart failure. Without treatment, the majority of affected children survive only a few years after they are diagnosed. Adults with familial restrictive cardiomyopathy typically first develop shortness of breath, fatigue, and a reduced ability to exercise. Some individuals have an irregular heart beat (arrhythmia) and may also experience a sensation of fluttering or pounding in the chest (palpitations) and dizziness. Abnormal blood clots are commonly seen in adults with this condition. Without treatment, approximately one-third of adults with familial restrictive cardiomyopathy do not survive more than five years after diagnosis.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Parkes Weber syndrome ?"}, {"role": "assistant", "content": "How might Parkes Weber syndrome be treated? For capillary malformations (such as port wine stains) that are of cosmetic concern, individuals may be referred to a dermatologist. For arteriovenous malformations (AVMs) and arteriovenous fistulas (AVFs), the risks and benefits of intervention (i,e, embolization versus surgery) may be considered, usually with input from a multi-disciplinary team (e.g., specialists in interventional radiology, neurosurgery, surgery, cardiology, and dermatology). For risks associated with heart failure, referral to a cardiologist may be warranted. Hypertrophy (overgrowth) of the limb and/or difference in size between limbs may be treated surgically by an orthopedist. Supportive care may include compression garments (tight-fitting pieces of clothing on the affected limb to reduce pain and swelling); these may also protect the limb from bumps and scrapes, which can cause bleeding. Heel inserts may be used if the legs are different lengths, which can aid in walking normally. Various pain medications and antibiotic medications may be prescribed as needed.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for potassium-aggravated myotonia ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of potassium-aggravated myotonia: - Genetic Testing Registry: Potassium aggravated myotonia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Congenital dyserythropoietic anemia type 2 ?"}, {"role": "assistant", "content": "Congenital dyserythropoietic anemia type 2 (CDA II) is an inherited blood disorder characterized by mild to severe anemia. It is usually diagnosed in adolescence or early adulthood. Many affected individuals have yellowing of the skin and eyes (jaundice) and an enlarged liver and spleen (hepatosplenomegaly) and gallstones. This condition also causes the body to absorb too much iron, which builds up and can damage tissues and organs. In particular, iron overload can lead to an abnormal heart rhythm (arrhythmia), congestive heart failure, diabetes, and chronic liver disease (cirrhosis). Rarely, people with CDA type II have mediastinal tumors. CDA type II usually results from mutations in the SEC23B gene. It is inherited in an autosomal recessive pattern. Treatment depends on the severity of the symptoms and may involve blood transfusions, iron chelation therapy and removal of the spleen and gallbladder.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the stages of Nasopharyngeal Cancer ?"}, {"role": "assistant", "content": "Key Points\n - After nasopharyngeal cancer has been diagnosed, tests are done to find out if cancer cells have spread within the nasopharynx or to other parts of the body. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. - The following stages are used for nasopharyngeal cancer: - Stage 0 (Carcinoma in Situ) - Stage I - Stage II - Stage III - Stage IV\n \n \n After nasopharyngeal cancer has been diagnosed, tests are done to find out if cancer cells have spread within the nasopharynx or to other parts of the body.\n The process used to find out whether cancer has spread within the nasopharynx or to other parts of the body is called staging. The information gathered from the staging process determines the stage of the disease. It is important to know the stage in order to plan treatment. The results of the tests used to diagnose nasopharyngeal cancer are often also used to stage the disease. (See the General Information section.)\n \n \n There are three ways that cancer spreads in the body.\n Cancer can spread through tissue, the lymph system, and the blood: - Tissue. The cancer spreads from where it began by growing into nearby areas. - Lymph system. The cancer spreads from where it began by getting into the lymph system. The cancer travels through the lymph vessels to other parts of the body. - Blood. The cancer spreads from where it began by getting into the blood. The cancer travels through the blood vessels to other parts of the body.\n \n \n Cancer may spread from where it began to other parts of the body.\n When cancer spreads to another part of the body, it is called metastasis. Cancer cells break away from where they began (the primary tumor) and travel through the lymph system or blood. - Lymph system. The cancer gets into the lymph system, travels through the lymph vessels, and forms a tumor (metastatic tumor) in another part of the body. - Blood. The cancer gets into the blood, travels through the blood vessels, and forms a tumor (metastatic tumor) in another part of the body. The metastatic tumor is the same type of cancer as the primary tumor. For example, if nasopharyngeal cancer spreads to the lung, the cancer cells in the lung are actually nasopharyngeal cancer cells. The disease is metastatic nasopharyngeal cancer, not lung cancer.\n \n \n The following stages are used for nasopharyngeal cancer:\n Stage 0 (Carcinoma in Situ) In stage 0, abnormal cells are found in the lining of the nasopharynx. These abnormal cells may become cancer and spread into nearby normal tissue. Stage 0 is also called carcinoma in situ. Stage I In stage I, cancer has formed and the cancer: - is found in the nasopharynx only; or - has spread from the nasopharynx to the oropharynx and/or to the nasal cavity. The oropharynx is the middle part of the throat and includes the soft palate, the base of the tongue, and the tonsils. Stage II In stage II nasopharyngeal cancer, the cancer: - is found in the nasopharynx only or has spread from the nasopharynx to the oropharynx and/or to the nasal cavity. Cancer has spread to one or more lymph nodes on one side of the neck and/or to lymph nodes behind the pharynx. The affected lymph nodes are 6 centimeters or smaller; or - is found in the parapharyngeal space. Cancer may have spread to one or more lymph nodes on one side of the neck and/or to lymph nodes behind the pharynx. The affected lymph nodes are 6 centimeters or smaller. The oropharynx is the middle part of the throat and includes the soft palate, the base of the tongue, and the tonsils. The parapharyngeal space is a fat-filled, triangular area near the pharynx, between the base of the skull and the lower jaw. Stage III In stage III nasopharyngeal cancer, the cancer: - is found in the nasopharynx only or has spread from the nasopharynx to the oropharynx and/or to the nasal cavity. Cancer has spread to one or more lymph nodes on both sides of the neck. The affected lymph nodes are 6 centimeters or smaller; or - is found in the parapharyngeal space. Cancer has spread to one or more lymph nodes on both sides of the neck. The affected lymph nodes are 6 centimeters or smaller; or - has spread to nearby bones or sinuses. Cancer may have spread to one or more lymph nodes on one or both sides of the neck and/or to lymph nodes behind the pharynx. The affected lymph nodes are 6 centimeters or smaller. The oropharynx is the middle part of the throat and includes the soft palate, the base of the tongue, and the tonsils. The parapharyngeal space is a fat-filled, triangular area near the pharynx, between the base of the skull and the lower jaw. Stage IV Stage IV nasopharyngeal cancer is divided into stages IVA, IVB, and IVC. - Stage IVA: Cancer has spread beyond the nasopharynx and may have spread to the cranial nerves, the hypopharynx (bottom part of the throat), areas in and around the side of the skull or jawbone, and/or the bone around the eye. Cancer may also have spread to one or more lymph nodes on one or both sides of the neck and/or to lymph nodes behind the pharynx. The affected lymph nodes are 6 centimeters or smaller. - Stage IVB: Cancer has spread to lymph nodes between the collarbone and the top of the shoulder and/or the affected lymph nodes are larger than 6 centimeters. - Stage IVC: Cancer has spread beyond nearby lymph nodes to other parts of the body.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to Peters plus syndrome ?"}, {"role": "assistant", "content": "Mutations in the B3GLCT gene cause Peters plus syndrome. The B3GLCT gene provides instructions for making an enzyme called beta 3-glucosyltransferase (B3Glc-T), which is involved in the complex process of adding sugar molecules to proteins (glycosylation). Glycosylation modifies proteins so they can perform a wider variety of functions. Most mutations in the B3GLCT gene lead to the production of an abnormally short, nonfunctional version of the B3Glc-T enzyme, which disrupts glycosylation. It is unclear how the loss of functional B3Glc-T enzyme leads to the signs and symptoms of Peters plus syndrome, but impaired glycosylation likely disrupts the function of many proteins, which may contribute to the variety of features.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for frontonasal dysplasia ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of frontonasal dysplasia: - Genetic Testing Registry: Frontonasal dysplasia 1 - Genetic Testing Registry: Frontonasal dysplasia 2 - Genetic Testing Registry: Frontonasal dysplasia 3 - KidsHealth from Nemours: Cleft Lip and Palate - MedlinePlus Encyclopedia: Head and Face Reconstruction - Mount Sinai Hospital: Cleft Nasal Deformity - University of Rochester Medical Center: Nasal Alveolar Molding These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is the outlook for Parry-Romberg ?"}, {"role": "assistant", "content": "The prognosis for individuals with Parry-Romberg syndrome varies. In some cases, the atrophy ends before the entire face is affected. In mild cases, the disorder usually causes no disability other than cosmetic effects.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by familial cold autoinflammatory syndrome ?"}, {"role": "assistant", "content": "Familial cold autoinflammatory syndrome is a very rare condition, believed to have a prevalence of less than 1 per million people.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is 6q24-related transient neonatal diabetes mellitus inherited ?"}, {"role": "assistant", "content": "Most cases of 6q24-related transient neonatal diabetes mellitus are not inherited, particularly those caused by paternal uniparental disomy. In these cases, genetic changes occur as random events during the formation of reproductive cells (eggs and sperm) or in early embryonic development. Affected people typically have no history of the disorder in their family. Sometimes, the genetic change responsible for 6q24-related transient neonatal diabetes mellitus is inherited. For example, a duplication of genetic material on the paternal chromosome 6 can be passed from one generation to the next. When 6q24-related transient neonatal diabetes mellitus is caused by ZFP57 gene mutations, it is inherited in an autosomal recessive pattern. Autosomal recessive inheritance means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Systemic capillary leak syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Systemic capillary leak syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Systemic capillary leak syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Edema of the lower limbs 90% Leukocytosis 90% Abdominal pain 50% Abnormal immunoglobulin level 50% Diarrhea 50% Hypotension 50% Impaired temperature sensation 50% Myalgia 50% Pancreatitis 50% Pulmonary edema 50% Sinusitis 50% Weight loss 50% Abnormality of temperature regulation 7.5% Abnormality of the myocardium 7.5% Abnormality of the pericardium 7.5% Abnormality of the pleura 7.5% Abnormality of the renal tubule 7.5% Multiple myeloma 7.5% Renal insufficiency 7.5% Seizures 7.5% Sudden cardiac death 7.5% Thrombophlebitis 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Glutaric acidemia type II ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Glutaric acidemia type II? Signs and symptoms of glutaric acidemia type II (GA2) can vary widely depending on the age of onset and severity of the condition in each affected individual. In most cases, the condition appears in infancy or early childhood as a sudden episode called a metabolic crisis which causes weakness; behavior changes such as poor feeding and decreased activity; and vomiting. These crises can be life-threatening and may be triggered by common childhood illnesses or other stresses on the body. The most severe cases may appear in the neonatal period (within the first 4 weeks of life) and may also be characterized by the presence of physical abnormalities at birth. These abnormalities may include brain malformations; an enlarged liver (hepatomegaly); a weakened and enlarged heart (dilated cardiomyopathy); fluid-filled cysts and other malformations of the kidneys; unusual facial features; and genital abnormalities. Some affected individuals have a characteristic odor resembling sweaty feet. Other cases are less severe and may appear later in childhood, in adolescence, or in adulthood. In the most mild cases, muscle weakness may be the first sign of the disorder. The Human Phenotype Ontology provides the following list of signs and symptoms for Glutaric acidemia type II. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal facial shape - Abnormality of the genital system - Abnormality of the pinna - Autosomal recessive inheritance - Congenital cataract - Defective dehydrogenation of isovaleryl CoA and butyryl CoA - Depressed nasal bridge - Electron transfer flavoprotein-ubiquinone oxidoreductase defect - Ethylmalonic aciduria - Generalized aminoaciduria - Gliosis - Glutaric acidemia - Glutaric aciduria - Glycosuria - Hepatic periportal necrosis - Hepatic steatosis - Hepatomegaly - High forehead - Hypoglycemia - Hypoglycemic coma - Jaundice - Macrocephaly - Muscle weakness - Muscular hypotonia - Nausea - Neonatal death - Pachygyria - Polycystic kidney dysplasia - Proximal tubulopathy - Pulmonary hypoplasia - Renal cortical cysts - Respiratory distress - Telecanthus - Vomiting - Wide anterior fontanel - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Farber's Disease ?"}, {"role": "assistant", "content": "Farbers disease, also known as Farber's lipogranulomatosis, describes a group of inherited metabolic disorders called lipid storage diseases, in which excess amounts of lipids (oils, fatty acids, and related compounds) build up to harmful levels in the joints, tissues, and central nervous system. The liver, heart, and kidneys may also be affected. Disease onset is typically seen in early infancy but may occur later in life. Symptoms of the classic form may have moderately impaired mental ability and difficulty with swallowing. Other symptoms may include chronic shortening of muscles or tendons around joints. arthritis, swollen lymph nodes and joints, hoarseness, nodules under the skin (and sometimes in the lungs and other parts of the body), and vomiting. Affected persons may require the insertion of a breathing tube. In severe cases, the liver and spleen are enlarged. Farber's disease is caused by a deficiency of the enzyme ceramidase. The disease occurs when both parents carry and pass on the defective gene that regulates the protein sphingomyelin. Children born to these parents have a 25 percent chance of inheriting the disorder and a 50 percent chance of carrying the faulty gene. The disorder affects both males and females.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by peroxisomal acyl-CoA oxidase deficiency ?"}, {"role": "assistant", "content": "Peroxisomal acyl-CoA oxidase deficiency is a rare disorder. Its prevalence is unknown. Only a few dozen cases have been described in the medical literature.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) adenosine monophosphate deaminase deficiency ?"}, {"role": "assistant", "content": "Adenosine monophosphate (AMP) deaminase deficiency is a condition that can affect the muscles used for movement (skeletal muscles). People with this condition do not make enough of an enzyme called AMP deaminase. In most people, AMP deaminase deficiency does not cause any symptoms. People who do experience symptoms typically have muscle pain (myalgia) or weakness after exercise or prolonged physical activity. They often get tired more quickly and stay tired longer than would normally be expected. Some affected individuals have more severe symptoms, but it is unclear whether these symptoms are due solely to a lack of AMP deaminase or additional factors. Muscle weakness is typically apparent beginning in childhood or early adulthood. Researchers have proposed three types of AMP deaminase deficiency, which are distinguished by their symptoms and genetic cause.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Sjgren-Larsson syndrome ?"}, {"role": "assistant", "content": "Sjgren-Larsson syndrome is a condition characterized by dry, scaly skin (ichthyosis); neurological problems; and eye problems. These symptoms are apparent by early childhood and usually do not worsen with age. Affected infants tend to be born prematurely. At birth the skin is red (erythema), but later in infancy the skin becomes dry, rough, and scaly with a brownish or yellowish tone. Mild to severe itchiness (pruritus) is also common. These skin abnormalities are generally dispersed over the whole body, most severely affecting the nape of the neck, the torso, and the extremities. The skin of the face is usually not affected. People with this condition may also have neurological signs and symptoms. Most affected individuals have leukoencephalopathy, which is a change in a type of brain tissue called white matter. White matter consists of nerve fibers covered by a substance (myelin) that insulates and protects the nerves. The leukoencephalopathy is thought to contribute to many of the neurological signs and symptoms in people with Sjgren-Larsson syndrome. Most affected individuals have intellectual disability that varies from mild to profound and is usually apparent by early childhood. People with Sjgren-Larsson syndrome have speech difficulties (dysarthria) and delayed speech. Usually they are able to produce only short sentences with poorly formed words. Rarely, people with this condition have normal intelligence. In addition, approximately 40 percent of people with Sjgren-Larsson syndrome have seizures. Children with this condition often experience delayed development of motor skills (such as crawling and walking) due to abnormal muscle stiffness (spasticity) that is typically in their legs and, less commonly, also in their arms. About one-half of people with Sjgren-Larsson syndrome require wheelchair assistance and many others need some form of support to walk. Affected individuals have tiny crystals in the light-sensitive tissue at the back of the eye (retina) that can be seen during an eye exam. Based on their appearance, these retinal crystals are often called glistening white dots. These white dots are usually apparent by early childhood, and it is unclear if they affect normal vision. People with Sjgren-Larsson syndrome may also have nearsightedness (myopia) or an increased sensitivity to light (photophobia).", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Mayer-Rokitansky-Kster-Hauser syndrome ?"}, {"role": "assistant", "content": "Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome is a disorder that occurs in females and mainly affects the reproductive system. This condition causes the vagina and uterus to be underdeveloped or absent. Affected women usually do not have menstrual periods due to the absent uterus. Often, the first noticeable sign of MRKH syndrome is that menstruation does not begin by age 16 (primary amenorrhea). Women with MRKH syndrome have a female chromosome pattern (46,XX) and normally functioning ovaries. They also have normal female external genitalia and normal breast and pubic hair development. Although women with this condition are usually unable to carry a pregnancy, they may be able to have children through assisted reproduction. Women with MRKH syndrome may also have abnormalities in other parts of the body. The kidneys may be abnormally formed or positioned, or one kidney may fail to develop (unilateral renal agenesis). Affected individuals commonly develop skeletal abnormalities, particularly of the spinal bones (vertebrae). Females with MRKH syndrome may also have hearing loss or heart defects.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to Barth syndrome ?"}, {"role": "assistant", "content": "Mutations in the TAZ gene cause Barth syndrome. The TAZ gene provides instructions for making a protein called tafazzin. Tafazzin is located in structures called mitochondria, which are the energy-producing centers of cells. Tafazzin is involved in altering a fat (lipid) called cardiolipin, which plays critical roles in the mitochondrial inner membrane. Once altered by tafazzin, cardiolipin is key in maintaining mitochondrial shape, energy production, and protein transport within cells. TAZ gene mutations result in the production of tafazzin proteins with little or no function. As a result, tafazzin cannot alter cardiolipin. A lack of functional cardiolipin impairs normal mitochondrial shape and functions. Tissues with high energy demands, such as the heart and skeletal muscles, are most susceptible to cell death due to reduced energy production in mitochondria. Additionally, abnormally shaped mitochondria are found in affected white blood cells, which could affect their ability to grow (proliferate) and mature (differentiate), leading to neutropenia. Dysfunctional mitochondria likely lead to other signs and symptoms of Barth syndrome.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by Pallister-Killian mosaic syndrome ?"}, {"role": "assistant", "content": "Pallister-Killian mosaic syndrome appears to be a rare condition, although its exact prevalence is unknown. This disorder may be underdiagnosed because it can be difficult to detect in people with mild signs and symptoms. As a result, most diagnoses are made in children with more severe features of the disorder. More than 150 people with Pallister-Killian mosaic syndrome have been reported in the medical literature.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Gastroparesis ?"}, {"role": "assistant", "content": "The most common symptoms of gastroparesis are nausea, a feeling of fullness after eating only a small amount of food, and vomiting undigested foodsometimes several hours after a meal. Other symptoms of gastroparesis include\n \n- gastroesophageal reflux (GER), also called acid reflux or acid regurgitationa condition in which stomach contents flow back up into the esophagus, the organ that connects the mouth to the stomach - pain in the stomach area - abdominal bloating - lack of appetite\n \nSymptoms may be aggravated by eating greasy or rich foods, large quantities of foods with fibersuch as raw fruits and vegetablesor drinking beverages high in fat or carbonation. Symptoms may be mild or severe, and they can occur frequently in some people and less often in others. The symptoms of gastroparesis may also vary in intensity over time in the same individual. Sometimes gastroparesis is difficult to diagnose because people experience a range of symptoms similar to those of other diseases.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes ?"}, {"role": "assistant", "content": "MELAS can result from mutations in one of several genes, including MT-ND1, MT-ND5, MT-TH, MT-TL1, and MT-TV. These genes are found in the DNA of cellular structures called mitochondria, which convert the energy from food into a form that cells can use. Although most DNA is packaged in chromosomes within the nucleus, mitochondria also have a small amount of their own DNA, known as mitochondrial DNA or mtDNA. Some of the genes related to MELAS provide instructions for making proteins involved in normal mitochondrial function. These proteins are part of a large enzyme complex in mitochondria that helps convert oxygen, fats, and simple sugars to energy. Other genes associated with this disorder provide instructions for making molecules called transfer RNAs (tRNAs), which are chemical cousins of DNA. These molecules help assemble protein building blocks called amino acids into full-length, functioning proteins within mitochondria. Mutations in a particular transfer RNA gene, MT-TL1, cause more than 80 percent of all cases of MELAS. These mutations impair the ability of mitochondria to make proteins, use oxygen, and produce energy. Researchers have not determined how changes in mtDNA lead to the specific signs and symptoms of MELAS. They continue to investigate the effects of mitochondrial gene mutations in different tissues, particularly in the brain.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Heart Disease in Women ?"}, {"role": "assistant", "content": "Treatment forcoronary heart disease (CHD) usually is the same for both women and men. Treatment may include lifestyle changes, medicines, medical and surgical procedures, andcardiac rehabilitation(rehab).\n \nThe goals of treatment are to:\n \nRelieve symptoms.\n \nReduce risk factors in an effort to slow, stop, or reverse the buildup of plaque.\n \nLower the risk of blood clots forming. (Blood clots can cause aheart attack.)\n \nWiden or bypass plaque-clogged coronary (heart) arteries.\n \nPrevent CHD complications.\n \nLifestyle Changes\n \nMaking lifestyle changes can help prevent or treat CHD. These changes may be the only treatment that some people need.\n \nQuit Smoking\n \nIf you smoke or use tobacco, try to quit. Smoking can raise your risk for CHD and heart attack and worsen other CHD risk factors. Talk with your doctor about programs and products that can help you quit. Also, try to avoid secondhand smoke.\n \nIf you find it hard to quit smoking on your own, consider joining a support group. Many hospitals, workplaces, and community groups offer classes to help people quit smoking.\n \nFor more information about how to quit smoking, go to the Health Topics Smoking and Your Heart article and the National Heart, Lung, and Blood Institute's (NHLBI's) \"Your Guide to a Healthy Heart.\"\n \nFollow a Healthy Diet\n \nA healthy diet is an important part of a healthy lifestyle. A healthy diet includes a variety of vegetables and fruits. These foods can be fresh, canned, frozen, or dried. A good rule is to try to fill half of your plate with vegetables and fruits.\n \nA healthy diet also includes whole grains, fat-free or low-fat dairy products, and protein foods, such as lean meats, poultry without skin, seafood, processed soy products, nuts, seeds, beans, and peas.\n \nChoose and prepare foods with little sodium (salt). Too much salt can raise your risk for high blood pressure. Studies show that following the Dietary Approaches to Stop Hypertension (DASH) eating plan can lower blood pressure.\n \nTry to avoid foods and drinks that are high in added sugars. For example, drink water instead of sugary drinks, like soda.\n \nAlso, try to limit the amount of solid fats and refined grains that you eat. Solid fats are saturated fat and trans fatty acids. Refined grains come from processing whole grains, which results in a loss of nutrients (such as dietary fiber).\n \nIf you drink alcohol, do so in moderation. Research suggests that regularly drinking small to moderate amounts of alcohol may lower the risk of CHD. Women should have no more than one alcoholic drink a day.\n \nOne drink a day can lower your CHD risk by raising your HDL cholesterol level. One drink is a glass of wine, beer, or a small amount of hard liquor.\n \nIf you don't drink, this isn't a recommendation to start using alcohol. Also, you shouldn't drink if you're pregnant, if you're planning to become pregnant, or if you have another health condition that could make alcohol use harmful.\n \nToo much alcohol can cause you to gain weight and raise your blood pressure and triglyceride level. In women, even one drink a day may raise the risk of certain types of cancer.\n \nFor more information about following a healthy diet, go to the NHLBI's \"Your Guide to Lowering Your Blood Pressure With DASH\" and the U.S. Department of Agriculture's ChooseMyPlate.gov Web site. Both resources provide general information about healthy eating.\n \nBe Physically Active\n \nRegular physical activity can lower many CHD risk factors, including high LDL cholesterol,high blood pressure, and excess weight.\n \nPhysical activity also can lower your risk for diabetes and raise your HDL cholesterol level. (HDL cholesterol helps remove cholesterol from your arteries.)\n \nTalk with your doctor before you start a new exercise plan. Ask him or her how much and what kinds of physical activity are safe for you.\n \nPeople gain health benefits from as little as 60 minutes of moderate-intensity aerobic activity per week. Walking is an excellent heart healthy exercise. The more active you are, the more you will benefit.\n \nFor more information about physical activity, go to the U.S. Department of Health and Human Services' \"2008 Physical Activity Guidelines for Americans,\" the Health Topics Physical Activity and Your Heart article, and the NHLBI's \"Your Guide to Physical Activity and Your Heart.\"\n \nMaintain a Healthy Weight\n \nOverweight and obesity are risk factors for CHD. If you're overweight or obese, try to lose weight. Cut back your calorie intake and do more physical activity. Eat smaller portions and choose lower calorie foods. Your health care provider may refer you to a dietitian to help you manage your weight.\n \nA BMI of less than 25 and a waist circumference of 35 inches or less is the goal for preventing and treating CHD. BMI measures your weight in relation to your height and gives an estimate of your total body fat. You can use the NHLBI's online BMI calculator to figure out your BMI, or your doctor can help you.\n \nTo measure your waist, stand and place a tape measure around your middle, just above your hipbones. Measure your waist just after you breathe out. Make sure the tape is snug but doesn't squeeze the flesh.\n \nFor more information about losing weight or maintaining a healthy weight, go to the NHLBI's Aim for a Healthy Weight Web site.\n \nStress and Depression\n \nResearch shows that getting upset or angry can trigger a heart attack. Also, some of the ways people cope with stresssuch as drinking, smoking, or overeatingaren't heart healthy.\n \nLearning how to manage stress, relax, and cope with problems can improve your emotional and physical health.\n \nHaving supportive people in your life with whom you can share your feelings or concerns can help relieve stress. Physical activity, yoga, and relaxation therapy also can help relieve stress. You may want to consider taking part in a stress management program.\n \nDepression can double or triple your risk for CHD. Depression also makes it hard to maintain a heart healthy lifestyle.\n \nTalk with your doctor if you have symptoms of depression, such as feeling hopeless or not taking interest in daily activities. He or she may recommend counseling or prescribe medicines to help you manage the condition.\n \nMedicines\n \nYou may need medicines to treat CHD if lifestyle changes aren't enough. Medicines can help:\n \nReduce your heart's workload and relieve CHD symptoms\n \nDecrease your chance of having a heart attack or dying suddenly\n \nLower your LDL cholesterol, blood pressure, and other CHD risk factors\n \nPrevent blood clots\n \nPrevent or delay the need for a procedure or surgery, such asangioplasty (AN-jee-oh-plas-tee) or coronary artery bypass grafting (CABG)\n \nWomen who havecoronary microvascular disease and anemiamay benefit from taking medicine to treat the anemia.\n \nWomen who have broken heart syndrome also may need medicines. Doctors may prescribe medicines to relieve fluid buildup, treat blood pressure problems, prevent blood clots, and manage stress hormones. Most people who have broken heart syndrome make a full recovery within weeks.\n \nTake all of your medicines as prescribed. If you have side effects or other problems related to your medicines, tell your doctor. He or she may be able to provide other options.\n \nMenopausal Hormone Therapy\n \nRecent studies have shown that menopausal hormone therapy (MHT) doesn't prevent CHD. Some studies have even shown that MHT increases women's risk for CHD, stroke, and breast cancer.\n \nHowever, these studies tested MHT on women who had been postmenopausal for at least several years. During that time, they could have already developed CHD.\n \nResearch is ongoing to see whether MHT helps prevent CHD when taken right when menopause starts. While questions remain, current findings suggest MHT shouldn't routinely be used to prevent or treat CHD.\n \nAsk your doctor about other ways to prevent or treat CHD, including lifestyle changes and medicines. For more information about MHT, go to the NHLBI's Postmenopausal Hormone Therapy Web site.\n \nProcedures and Surgery\n \nYou may need a procedure or surgery to treat CHD. Both angioplasty and CABG are used as treatments. You and your doctor can discuss which treatment is right for you.\n \nPercutaneous Coronary Intervention\n \nPercutaneous coronary intervention (PCI), commonly known as angioplasty (AN-jee-oh-plas-tee), is a nonsurgical procedure that opens blocked or narrowed coronary arteries.\n \nA thin, flexible tube with a balloon or other device on the end is threaded through a blood vessel to the narrowed or blocked coronary artery. Once in place, the balloon is inflated to compress the plaque against the wall of the artery. This restores blood flow through the artery.\n \nPCI can improve blood flow to your heart and relieve chest pain. A small mesh tube called a stent usually is placed in the artery to help keep it open after the procedure.\n \nFor more information, go to the Health Topics PCI article.\n \nCoronary Artery Bypass Grafting\n \nCABG is a type of surgery. During CABG, a surgeon removes arteries or veins from other areas in your body and uses them to bypass (that is, go around) narrowed or blocked coronary arteries.\n \nCABG can improve blood flow to your heart, relieve chest pain, and possibly prevent a heart attack.\n \nFor more information, go to the Health Topics Coronary Artery Bypass Grafting article.\n \nCardiac Rehabilitation\n \nYour doctor may prescribe cardiac rehab foranginaor after angioplasty, CABG, or a heart attack. Almost everyone who has CHD can benefit from cardiac rehab.\n \nCardiac rehab is a medically supervised program that can improve the health and well-being of people who have heart problems.\n \nThe cardiac rehab team may include doctors, nurses, exercise specialists, physical and occupational therapists, dietitians or nutritionists, and psychologists or other mental health specialists.\n \nCardiac rehab has two parts:\n \nExercise training. This part of rehab helps you learn how to exercise safely, strengthen your muscles, and improve your stamina. Your exercise plan will be based on your personal abilities, needs, and interests.\n \nEducation, counseling, and training. This part of rehab helps you understand your heart condition and find ways to lower your risk for future heart problems. The rehab team will help you learn how to cope with the stress of adjusting to a new lifestyle and with your fears about the future.\n \nFor more information, go to the Health Topics Cardiac Rehabilitation article.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Macular dystrophy, concentric annular ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Macular dystrophy, concentric annular? The Human Phenotype Ontology provides the following list of signs and symptoms for Macular dystrophy, concentric annular. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Dyschromatopsia - Foveal hyperpigmentation - Macular dystrophy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Prader-Willi syndrome inherited ?"}, {"role": "assistant", "content": "Is Prader-Willi syndrome inherited? Most cases of Prader-Willi syndrome (PWS) are not inherited and are due to random events during the formation of egg or sperm cells, or in early fetal development. This is usually the case when PWS is caused by a deletion in the paternal chromosome 15, or by maternal uniparental disomy. However in rare cases, a genetic change responsible for PWS can be inherited. The risk to family members of a person with PWS depends on the genetic cause of the condition in the affected person. Because the various genetic causes of PWS are complex, people seeking information about specific risks to themselves or family members are encouraged to speak with a genetics professional. More information about the causes of PWS can be viewed on our Web site here.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Harlequin ichthyosis ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Harlequin ichthyosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Harlequin ichthyosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the eyelid 90% Depressed nasal ridge 90% Hearing abnormality 90% Hyperkeratosis 90% Recurrent respiratory infections 90% Abnormality of the mouth 50% Limitation of joint mobility 50% Cataract 7.5% Dehydration 7.5% Foot polydactyly 7.5% Hand polydactyly 7.5% Malignant hyperthermia 7.5% Respiratory insufficiency 7.5% Self-injurious behavior 7.5% Sudden cardiac death 7.5% Autosomal recessive inheritance - Congenital ichthyosiform erythroderma - Ectropion - Premature birth - Proptosis - Rigidity - Short finger - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Partial agenesis of corpus callosum ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Partial agenesis of corpus callosum? The Human Phenotype Ontology provides the following list of signs and symptoms for Partial agenesis of corpus callosum. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Seizures 90% Hypertonia 50% Microcephaly 50% Muscle weakness 50% Aganglionic megacolon 7.5% Abnormal facial shape - Cerebellar hypoplasia - Hydrocephalus - Inferior vermis hypoplasia - Intellectual disability - Partial agenesis of the corpus callosum - Spasticity - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Miles-Carpenter x-linked mental retardation syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Miles-Carpenter x-linked mental retardation syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Miles-Carpenter x-linked mental retardation syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal dermatoglyphics 90% Strabismus 90% Abnormality of the genital system 50% Cognitive impairment 50% Decreased body weight 50% Facial asymmetry 50% Joint hypermobility 50% Microcornea 50% Talipes 50% Abnormality of the skin - Congenital contracture - Distal amyotrophy - Exotropia - Intellectual disability - Microcephaly - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) ophthalmo-acromelic syndrome ?"}, {"role": "assistant", "content": "Ophthalmo-acromelic syndrome is a condition that results in malformations of the eyes, hands, and feet. The features of this condition are present from birth. The eyes are often absent or severely underdeveloped (anophthalmia), or they may be abnormally small (microphthalmia). Usually both eyes are similarly affected in this condition, but if only one eye is small or missing, the other eye may have a defect such as a gap or split in its structures (coloboma). The most common hand and foot malformation seen in ophthalmo-acromelic syndrome is missing fingers or toes (oligodactyly). Other frequent malformations include fingers or toes that are fused together (syndactyly) or extra fingers or toes (polydactyly). These skeletal malformations are often described as acromelic, meaning that they occur in the bones that are away from the center of the body. Additional skeletal abnormalities involving the long bones of the arms and legs or the spinal bones (vertebrae) can also occur. Affected individuals may have distinctive facial features, an opening in the lip (cleft lip) with or without an opening in the roof of the mouth (cleft palate), or intellectual disability.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Thrombotic Thrombocytopenic Purpura ?"}, {"role": "assistant", "content": "Thrombotic thrombocytopenic purpura (TTP) is a rare blood disorder. In TTP, blood clots form in small blood vessels throughout the body.\n \nThe clots can limit or block the flow of oxygen-rich blood to the body's organs, such as the brain, kidneys, and heart. As a result, serious health problems can develop.\n \nThe increased clotting that occurs in TTP also uses up platelets (PLATE-lets) in the blood. Platelets are blood cell fragments that help form blood clots. These cell fragments stick together to seal small cuts and breaks on blood vessel walls and stop bleeding.\n \nWith fewer platelets available in the blood, bleeding problems can occur. People who have TTP may bleed inside their bodies, underneath the skin, or from the surface of the skin. When cut or injured, they also may bleed longer than normal.\n \n\"Thrombotic\" (throm-BOT-ik) refers to the blood clots that form. \"Thrombocytopenic\" (throm-bo-cy-toe-PEE-nick) means the blood has a lower than normal number of platelets. \"Purpura\" (PURR-purr-ah) refers to purple bruises caused by bleeding under the skin.\n \nBleeding under the skin also can cause tiny red or purple dots on the skin. These pinpoint-sized dots are called petechiae (peh-TEE-kee-ay). Petechiae may look like a rash.\n \nPurpura and Petechiae\n \n\n \nTTP also can cause red blood cells to break apart faster than the body can replace them. This leads to hemolytic anemia (HEE-moh-lit-ick uh-NEE-me-uh)a rare form of anemia. Anemia is a condition in which the body has a lower than normal number of red blood cells.\n \nA lack of activity in the ADAMTS13 enzyme (a type of protein in the blood) causes TTP. The ADAMTS13 gene controls the enzyme, which is involved in blood clotting. The enzyme breaks up a large protein called von Willebrand factor that clumps together with platelets to form blood clots.\n \nTypes of Thrombotic Thrombocytopenic Purpura\n \nThe two main types of TTP are inherited and acquired. \"Inherited\" means the condition is passed from parents to children through genes. This type of TTP mainly affects newborns and children.\n \nIn inherited TTP, the ADAMTS13 gene is faulty and doesn't prompt the body to make a normal ADAMTS13 enzyme. As a result, enzyme activity is lacking or changed.\n \nAcquired TTP is the more common type of the disorder. \"Acquired\" means you aren't born with the disorder, but you develop it. This type of TTP mostly occurs in adults, but it can affect children.\n \nIn acquired TTP, the ADAMTS13 gene isn't faulty. Instead, the body makes antibodies (proteins) that block the activity of the ADAMTS13 enzyme.\n \nIt's not clear what triggers inherited and acquired TTP, but some factors may play a role. These factors may include:\n \nSome diseases and conditions, such as pregnancy, cancer, HIV, lupus, and infections\n \nSome medical procedures, such as surgery and blood and marrow stem cell transplant\n \nSome medicines, such as chemotherapy, ticlopidine, clopidogrel, cyclosporine A, and hormone therapy and estrogens\n \nQuinine, which is a substance often found in tonic water and nutritional health products\n \nIf you have TTP, you may sometimes hear it referred to as TTPHUS. HUS, or hemolytic-uremic syndrome, is a disorder that resembles TTP, but is more common in children. Kidney problems also tend to be worse in HUS. Although some researchers think TTP and HUS are two forms of a single syndrome, recent evidence suggests that each has different causes.\n \nOutlook\n \nTTP is a rare disorder. It can be fatal or cause lasting damage, such as brain damage or a stroke, if it's not treated right away.\n \nTTP usually occurs suddenly and lasts for days or weeks, but it can continue for months. Relapses (or flareups) can occur in up to 60 percent of people who have the acquired type of TTP. Many people who have inherited TTP have frequent flareups that need to be treated.\n \nTreatments for TTP include infusions of fresh frozen plasma and plasma exchange, also called plasmapheresis (PLAZ-ma-feh-RE-sis). These treatments have greatly improved the outlook of the disorder.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Familial hemiplegic migraine type 2 ?"}, {"role": "assistant", "content": "How might hemiplegic migraine be treated? Treatment of hemiplegic migraine varies depending on severity and which symptoms are most problematic for the patient. In general, treatments aim to manage symptoms. Drugs that are effective in the prevention of common migraines may be used in hemiplegic migraine. Prophylactic management is applied to patients with frequent, long lasting, or severe attacks. Examples of migraine drugs that have been tried with variable success in people with hemiplegic migraine, include oral verapamil, acetazolamide, lamotrigine. There are a few articles describing the use of nasal administration of ketamine, intravenous verapamil, and triptans for treatment of aura in people with hemiplegic migraine. Use of triptans in hemiplegic migraine is controversial and may be contraindicated in people with severe attacks. For further information on these and other treatments, we recommend that you speak with your healthcare provider.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Osteoarthritis ?"}, {"role": "assistant", "content": "Pain and Stiffness in Joints Different types of arthritis have different symptoms. In general, people with most forms of arthritis have pain and stiffness in their joints. Osteoarthritis usually develops slowly and can occur in any joint, but often occurs in weight-bearing joints. Early in the disease, joints may ache after physical work or exercise. Most often, osteoarthritis occurs in the hands, hips, knees, neck, or low back. Common Signs Common signs of osteoarthritis include - joint pain, swelling, and tenderness - stiffness after getting out of bed - a crunching feeling or sound of bone rubbing on bone. joint pain, swelling, and tenderness stiffness after getting out of bed a crunching feeling or sound of bone rubbing on bone. Not everyone with osteoarthritis feels pain, however. In fact, only a third of people with x-ray evidence of osteoarthritis report pain or other symptoms. Diagnosis To make a diagnosis of osteoarthritis, most doctors use a combination of methods and tests including a medical history, a physical examination, x-rays, and laboratory tests. - A medical history is the patient's description of symptoms and when and how they began. The description covers pain, stiffness, and joint function, and how these have changed over time. - A physical examination includes the doctor's examination of the joints, skin, reflexes, and muscle strength. The doctor observes the patient's ability to walk, bend, and carry out activities of daily living. - X-rays are limited in their capacity to reveal how much joint damage may have occurred in osteoarthritis. X-rays usually don't show osteoarthritis damage until there has been a significant loss of cartilage. A medical history is the patient's description of symptoms and when and how they began. The description covers pain, stiffness, and joint function, and how these have changed over time. A physical examination includes the doctor's examination of the joints, skin, reflexes, and muscle strength. The doctor observes the patient's ability to walk, bend, and carry out activities of daily living. X-rays are limited in their capacity to reveal how much joint damage may have occurred in osteoarthritis. X-rays usually don't show osteoarthritis damage until there has been a significant loss of cartilage. Questions Your Doctor May Ask It is important for people with joint pain to give the doctor a complete medical history. Answering these questions will help your doctor make an accurate diagnosis: - Is the pain in one or more joints? - When does the pain occur and how long does it last? - When did you first notice the pain? - Does activity make the pain better or worse? - Have you had any illnesses or accidents that may account for the pain? - Is there a family history of any arthritis or rheumatic diseases? - What medicines are you taking? Is the pain in one or more joints? When does the pain occur and how long does it last? When did you first notice the pain? Does activity make the pain better or worse? Have you had any illnesses or accidents that may account for the pain? Is there a family history of any arthritis or rheumatic diseases? What medicines are you taking? A patient's attitudes, daily activities, and levels of anxiety or depression have a lot to do with how severe the symptoms of osteoarthritis may be. Who Can Provide Care Treating arthritis often requires a multidisciplinary or team approach. Many types of health professionals care for people with arthritis. You may choose a few or more of the following professionals to be part of your health care team. - Primary care physicians -- doctors who treat patients before they are referred to other specialists in the health care system. Often a primary care physician will be the main doctor to treat your arthritis. Primary care physicians also handle other medical problems and coordinate the care you receive from other physicians and health care providers. Primary care physicians -- doctors who treat patients before they are referred to other specialists in the health care system. Often a primary care physician will be the main doctor to treat your arthritis. Primary care physicians also handle other medical problems and coordinate the care you receive from other physicians and health care providers. - Rheumatologists -- doctors who specialize in treating arthritis and related conditions that affect joints, muscles, and bones. Rheumatologists -- doctors who specialize in treating arthritis and related conditions that affect joints, muscles, and bones. - Orthopaedists -- surgeons who specialize in the treatment of, and surgery for, bone and joint diseases. Orthopaedists -- surgeons who specialize in the treatment of, and surgery for, bone and joint diseases. - Physical therapists -- health professionals who work with patients to improve joint function. Physical therapists -- health professionals who work with patients to improve joint function. - Occupational therapists -- health professionals who teach ways to protect joints, minimize pain, perform activities of daily living, and conserve energy. Occupational therapists -- health professionals who teach ways to protect joints, minimize pain, perform activities of daily living, and conserve energy. - Dietitians -- health professionals who teach ways to use a good diet to improve health and maintain a healthy weight. Dietitians -- health professionals who teach ways to use a good diet to improve health and maintain a healthy weight. - Nurse educators -- nurses who specialize in helping patients understand their overall condition and implement their treatment plans. Nurse educators -- nurses who specialize in helping patients understand their overall condition and implement their treatment plans. - Physiatrists (rehabilitation specialists) -- medical doctors who help patients make the most of their physical potential. Physiatrists (rehabilitation specialists) -- medical doctors who help patients make the most of their physical potential. - Licensed acupuncture therapists -- health professionals who reduce pain and improve physical functioning by inserting fine needles into the skin at specific points on the body. Licensed acupuncture therapists -- health professionals who reduce pain and improve physical functioning by inserting fine needles into the skin at specific points on the body. - Psychologists -- health professionals who seek to help patients cope with difficulties in the home and workplace resulting from their medical conditions. Psychologists -- health professionals who seek to help patients cope with difficulties in the home and workplace resulting from their medical conditions. - Social workers -- professionals who assist patients with social challenges caused by disability, unemployment, financial hardships, home health care, and other needs resulting from their medical conditions. Social workers -- professionals who assist patients with social challenges caused by disability, unemployment, financial hardships, home health care, and other needs resulting from their medical conditions. - Chiropractors -- health professionals who focus treatment on the relationship between the body's structure -- mainly the spine -- and its functioning. Chiropractors -- health professionals who focus treatment on the relationship between the body's structure -- mainly the spine -- and its functioning. - Massage therapists -- health professionals who press, rub, and otherwise manipulate the muscles and other soft tissues of the body. They most often use their hands and fingers, but may use their forearms, elbows, or feet. Massage therapists -- health professionals who press, rub, and otherwise manipulate the muscles and other soft tissues of the body. They most often use their hands and fingers, but may use their forearms, elbows, or feet.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Optic atrophy 2 ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Optic atrophy 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Optic atrophy 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Absent Achilles reflex - Babinski sign - Dysarthria - Dysdiadochokinesis - Hyperactive patellar reflex - Intellectual disability - Optic atrophy - Tremor - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to Axenfeld-Rieger syndrome ?"}, {"role": "assistant", "content": "Axenfeld-Rieger syndrome results from mutations in at least two known genes, PITX2 and FOXC1. PITX2 gene mutations cause type 1, and FOXC1 gene mutations cause type 3. The gene associated with type 2 is likely located on chromosome 13, but it has not been identified. The proteins produced from the PITX2 and FOXC1 genes are transcription factors, which means they attach (bind) to DNA and help control the activity of other genes. These transcription factors are active before birth in the developing eye and in other parts of the body. They appear to play important roles in embryonic development, particularly in the formation of structures in the anterior segment of the eye. Mutations in either the PITX2 or FOXC1 gene disrupt the activity of other genes that are needed for normal development. Impaired regulation of these genes leads to problems in the formation of the anterior segment of the eye and other parts of the body. These developmental abnormalities underlie the characteristic features of Axenfeld-Rieger syndrome. Affected individuals with PITX2 gene mutations are more likely than those with FOXC1 gene mutations to have abnormalities affecting parts of the body other than the eye. Some people with Axenfeld-Rieger syndrome do not have identified mutations in the PITX2 or FOXC1 genes. In these individuals, the cause of the condition is unknown. Other as-yet-unidentified genes may also cause Axenfeld-Rieger syndrome.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to REN-related kidney disease ?"}, {"role": "assistant", "content": "Mutations in the REN gene cause REN-related kidney disease. This gene provides instructions for making a protein called renin that is produced in the kidneys. Renin plays an important role in regulating blood pressure and water levels in the body. Mutations in the REN gene that cause REN-related kidney disease result in the production of an abnormal protein that is toxic to the cells that normally produce renin. These kidney cells gradually die off, which causes progressive kidney disease.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to familial male-limited precocious puberty ?"}, {"role": "assistant", "content": "Familial male-limited precocious puberty can be caused by mutations in the LHCGR gene. This gene provides instructions for making a receptor protein called the luteinizing hormone/chorionic gonadotropin receptor. Receptor proteins have specific sites into which certain other proteins, called ligands, fit like keys into locks. Together, ligands and their receptors trigger signals that affect cell development and function. The protein produced from the LHCGR gene acts as a receptor for two ligands: luteinizing hormone and a similar hormone called chorionic gonadotropin. The receptor allows the body to respond appropriately to these hormones. In males, chorionic gonadotropin stimulates the development of cells in the testes called Leydig cells, and luteinizing hormone triggers these cells to produce androgens. Androgens, including testosterone, are the hormones that control male sexual development and reproduction. In females, luteinizing hormone triggers the release of egg cells from the ovaries (ovulation); chorionic gonadotropin is produced during pregnancy and helps maintain conditions necessary for the pregnancy to continue. Certain LHCGR gene mutations result in a receptor protein that is constantly turned on (constitutively activated), even when not attached (bound) to luteinizing hormone or chorionic gonadotropin. In males, the overactive receptor causes excess production of testosterone, which triggers male sexual development and lead to early puberty in affected individuals. The overactive receptor has no apparent effect on females. Approximately 18 percent of individuals with familial male-limited precocious puberty have no identified LHCGR gene mutation. In these individuals, the cause of the disorder is unknown.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Childhood Central Nervous System Atypical Teratoid/Rhabdoid Tumor ?"}, {"role": "assistant", "content": "Tests that examine the brain and spinal cord are used to detect (find) CNS atypical teratoid/rhabdoid tumor. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patient's health habits and past illnesses and treatments will also be taken. - Neurological exam : A series of questions and tests to check the brain, spinal cord, and nerve function. The exam checks a persons mental status, coordination, and ability to walk normally, and how well the muscles, senses, and reflexes work. This may also be called a neuro exam or a neurologic exam. - MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the brain and spinal cord. This procedure is also called nuclear magnetic resonance imaging (NMRI). - Lumbar puncture : A procedure used to collect cerebrospinal fluid (CSF) from the spinal column. This is done by placing a needle between two bones in the spine and into the CSF around the spinal cord and removing a sample of fluid. The sample of CSF is checked under a microscope for signs of tumor cells. The sample may also be checked for the amounts of protein and glucose. A higher than normal amount of protein or lower than normal amount of glucose may be a sign of a tumor. This procedure is also called an LP or spinal tap. - SMARCB1 and SMARCA4 gene testing: A laboratory test in which a sample of blood or tissue is tested for the SMARCB1 and SMARCA4 genes.\n Childhood atypical teratoid/rhabdoid tumor is diagnosed and may be removed in surgery. If doctors think there might be a brain tumor, a biopsy may be done to remove a sample of tissue. For tumors in the brain, the biopsy is done by removing part of the skull and using a needle to remove a sample of tissue. A pathologist views the tissue under a microscope to look for cancer cells. If cancer cells are found, the doctor may remove as much tumor as safely possible during the same surgery. The pathologist checks the cancer cells to find out the type of brain tumor. It is often difficult to completely remove AT/RT because of where the tumor is in the brain and because it may already have spread at the time of diagnosis. The following test may be done on the sample of tissue that is removed: - Immunohistochemistry : A test that uses antibodies to check for certain antigens in a sample of tissue. The antibody is usually linked to a radioactive substance or a dye that causes the tissue to light up under a microscope. This test is used to tell the difference between AT/RT and other brain tumors.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Coats disease ?"}, {"role": "assistant", "content": "How might Coats disease be treated? The treatment of Coats disease depends on the signs and symptoms present in each person. Treatment is usually directed towards destroying affected blood vessels in the retina and salvaging as much vision as possible. A procedure that uses extreme cold to destroy abnormal blood vessels (cryotherapy), and/or a procedure that uses laser energy to heat and destroy abnormal tissue (photocoagulation) are often used singly or in combination. These procedures are typically used during the early stages of the disease along with steroids and other medications to control inflammation and leaking from blood vessels. More advanced cases may require surgical treatment. For example, surgery to reattach the retina may be necessary in cases of retinal detachment. Draining or surgically removing the fluids that fill the eyeball between the lens and the retina (vitrectomy) may also be used to treat Coats disease when retinal detachment is present.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose TARP syndrome ?"}, {"role": "assistant", "content": "Is genetic testing available for TARP syndrome? Yes, genetic testing (including carrier testing) is available for TARP syndrome. The Genetic Testing Registry (GTR) provides information about the labs that offer genetic testing for this condition. On the GTR Web site, click on the title \"Test for TARP syndrome\" to find out more information about each test. The intended audience for the GTR is health care providers and researchers. Therefore, patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Long QT syndrome 1 ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Long QT syndrome 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Long QT syndrome 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the ear - Autosomal dominant inheritance - Heterogeneous - Prolonged QT interval - Sudden cardiac death - Syncope - Torsade de pointes - Ventricular fibrillation - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) 15q11.2 microdeletion ?"}, {"role": "assistant", "content": "15q11.2 microdeletion refers to a chromosome abnormality in which a tiny piece of genetic material on the long arm of chromosome 15 (at a location designated q11.2) is missing (deleted). The features of people with a 15q11.2 microdeletion vary widely. The most common features include developmental, motor, and language delays; behavior and emotional problems; attention deficit disorders; and autism spectrum disorder. Other features may include birth defects and seizures. However, some people have no apparent physical, learning, or behavior problems. A 15q11.2 microdeletion may occur randomly for the first time in an affected person, or it may be inherited from a parent. Treatment depends on the signs and symptoms in each person.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Keutel syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Keutel syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Keutel syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Calcification of cartilage 90% Depressed nasal bridge 90% Long face 90% Malar flattening 90% Short distal phalanx of finger 90% Tracheal stenosis 90% Abnormality of the voice 50% Chondrocalcinosis 50% Cognitive impairment 50% Hearing impairment 50% Otitis media 50% Pulmonary hypertension 50% Recurrent respiratory infections 50% Sinusitis 50% Sloping forehead 50% Underdeveloped nasal alae 50% Ventricular septal defect 50% Alopecia 7.5% Aplasia/Hypoplasia of the skin 7.5% Cutis laxa 7.5% Optic atrophy 7.5% Seizures 7.5% Short stature 7.5% Autosomal recessive inheritance - Calcification of the auricular cartilage - Cartilaginous ossification of larynx - Cartilaginous ossification of nose - Cerebral calcification - Chronic sinusitis - Costal cartilage calcification - Deep philtrum - Epiphyseal stippling - Growth abnormality - Hypoplasia of midface - Intellectual disability, mild - Macrotia - Nasal speech - Peripheral pulmonary artery stenosis - Premature fusion of phalangeal epiphyses - Pulmonary artery hypoplasia - Pulmonic stenosis - Recurrent bronchitis - Recurrent otitis media - Short hallux - Short thumb - Spontaneous abortion - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by systemic lupus erythematosus ?"}, {"role": "assistant", "content": "For unknown reasons, in industrialized Western countries SLE has become 10 times more common over the past 50 years. While estimates of its prevalence vary, SLE is believed to affect 14.6 to 68 per 100,000 people in the United States, with females developing SLE more often than males. It is most common in younger women; however, 20 percent of SLE cases occur in people over age 50. Because many of the signs and symptoms of SLE resemble those of other disorders, diagnosis may be delayed for years, and the condition may never be diagnosed in some affected individuals. In industrialized Western countries, people of African and Asian descent are two to four times more likely to develop SLE than are people of European descent. However, while the prevalence of SLE in Africa and Asia is unknown, it is believed to be much lower than in Western nations. Researchers suggest that factors such as ethnic mixing, tobacco use in industrialized countries, and the different types of infections people acquire in different regions may help account for the discrepancy. For example malaria, which occurs often in tropical regions, is thought to be protective against SLE, while the Epstein-Barr virus, more common in the West, increases SLE risk.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Do you have information about Childhood Immunization"}, {"role": "assistant", "content": "Summary : Today, children in the United States routinely get vaccines that protect them from more than a dozen diseases such as measles, polio, tetanus, diphtheria, and pertussis (whooping cough). Most of these diseases are now at their lowest levels in history, thanks to years of immunization. Children must get at least some vaccines before they may attend school. Vaccines help make you immune to serious diseases without getting sick first. Without a vaccine, you must actually get a disease in order to become immune to the germ that causes it. Vaccines work best when they are given at certain ages. For example, children don't receive measles vaccine until they are at least one year old. If it is given earlier it might not work as well. The Centers for Disease Control and Prevention publishes a schedule for childhood vaccines. Although some of the vaccines you receive as a child provide protection for many years, adults need immunizations too. Centers for Disease Control and Prevention", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) nonsyndromic aplasia cutis congenita ?"}, {"role": "assistant", "content": "Nonsyndromic aplasia cutis congenita is a condition in which babies are born with localized areas of missing skin (lesions). These areas resemble ulcers or open wounds, although they are sometimes already healed at birth. Lesions most commonly occur on the top of the head (skull vertex), although they can be found on the torso or limbs. In some cases, the bone and other tissues under the skin defect are also underdeveloped. Most affected babies have a single lesion. The lesions vary in size and can be differently shaped: some are round or oval, others rectangular, and still others star-shaped. They usually leave a scar after they heal. When the scalp is involved, there may be an absence of hair growth (alopecia) in the affected area. When the underlying bone and other tissues are involved, affected individuals are at higher risk of infections. If these severe defects occur on the head, the membrane that covers the brain (the dura mater) may be exposed, and life-threatening bleeding may occur from nearby vessels. Skin lesions are typically the only feature of nonsyndromic aplasia cutis congenita, although other skin problems and abnormalities of the bones and other tissues occur rarely. However, the characteristic skin lesions can occur as one of many symptoms in other conditions, including Johanson-Blizzard syndrome and Adams-Oliver syndrome. These instances are described as syndromic aplasia cutis congenita.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Ovarian Cysts ?"}, {"role": "assistant", "content": "A cyst is a fluid-filled sac. In most cases a cyst on the ovary does no harm and goes away by itself. Most women have them sometime during their lives. Cysts are rarely cancerous in women under 50. Cysts sometimes hurt - but not always. Often, a woman finds out about a cyst when she has a pelvic exam. If you're in your childbearing years or past menopause, have no symptoms, and have a fluid-filled cyst, you may choose to monitor the cyst. You may need surgery if you have pain, are past menopause or if the cyst does not go away. Birth control pills can help prevent new cysts. A health problem that may involve ovarian cysts is polycystic ovary syndrome (PCOS). Women with PCOS can have high levels of male hormones, irregular or no periods and small ovarian cysts. Dept. of Health and Human Services Office on Women's Health", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by SYNGAP1-related intellectual disability ?"}, {"role": "assistant", "content": "SYNGAP1-related intellectual disability is a relatively common form of cognitive impairment. It is estimated to account for 1 to 2 percent of intellectual disability cases.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Rabies ?"}, {"role": "assistant", "content": "Rabies is a deadly animal disease caused by a virus. It can happen in wild animals, including raccoons, skunks, bats and foxes, or in dogs, cats or farm animals. People get it from the bite of an infected animal. In people, symptoms of rabies include fever, headache and fatigue, then confusion, hallucinations and paralysis. Once the symptoms begin, the disease is usually fatal. A series of shots can prevent rabies in people exposed to the virus. You need to get them right away. If an animal bites you, wash the wound well; then get medical care. To help prevent rabies - Vaccinate your pet. Rabies vaccines are available for dogs, cats and farm animals - Don't let pets roam - Don't approach stray animals. Animals with rabies might be aggressive and vicious, or tired and weak Centers for Disease Control and Prevention", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Paralysis ?"}, {"role": "assistant", "content": "Paralysis is the loss of muscle function in part of your body. It happens when something goes wrong with the way messages pass between your brain and muscles. Paralysis can be complete or partial. It can occur on one or both sides of your body. It can also occur in just one area, or it can be widespread. Paralysis of the lower half of your body, including both legs, is called paraplegia. Paralysis of the arms and legs is quadriplegia. Most paralysis is due to strokes or injuries such as spinal cord injury or a broken neck. Other causes of paralysis include - Nerve diseases such as amyotrophic lateral sclerosis - Autoimmune diseases such as Guillain-Barre syndrome - Bell's palsy, which affects muscles in the face Polio used to be a cause of paralysis, but polio no longer occurs in the U.S.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Bereavement ?"}, {"role": "assistant", "content": "Bereavement is the period of grief and mourning after a death. When you grieve, it's part of the normal process of reacting to a loss. You may experience grief as a mental, physical, social or emotional reaction. Mental reactions can include anger, guilt, anxiety, sadness and despair. Physical reactions can include sleeping problems, changes in appetite, physical problems or illness. How long bereavement lasts can depend on how close you were to the person who died, if the person's death was expected and other factors. Friends, family and faith may be sources of support. Grief counseling or grief therapy is also helpful to some people. NIH: National Cancer Institute", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Hereditary neuralgic amyotrophy ?"}, {"role": "assistant", "content": "Hereditary neuralgic amyotrophy is a type of nervous system disease that affects the brachial plexus. Common signs and symptoms include episodes of severe pain and muscle wasting in one or both shoulders and arms. Attacks may be spontaneous or triggered (e.g., by exercise, childbirth, surgery, infection etc.). Secondary complications, such as decreased sensation, abnormal sensations (e.g., numbness and tingling), chronic pain, and impaired movement may develop overtime. Affected members in some families may share additional distinct physical and facial characteristics. Hereditary neuralgic amyotrophy can be caused by mutations in the SEPT9 gene. It is inherited in an autosomal dominant fashion.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) What I need to know about Kidney Failure and How Its Treated ?"}, {"role": "assistant", "content": "You and your doctor will work together to choose a treatment that's best for you. The publications of the NIDDK Kidney Failure Series can help you learn about the specific issues you will face.\n \nBooklets\n \n- What I need to know about Kidney Failure and How its Treated - Treatment Methods for Kidney Failure: Hemodialysis - Treatment Methods for Kidney Failure: Peritoneal Dialysis - Treatment Methods for Kidney Failure: Kidney Transplantation - Kidney Failure: Eat Right to Feel Right on Hemodialysis\n \nFact Sheets\n \n- Kidney Failure: What to Expect - Vascular Access for Hemodialysis - Hemodialysis Dose and Adequacy - Peritoneal Dialysis Dose and Adequacy - Amyloidosis and Kidney Disease - Anemia in Chronic Kidney Disease - Chronic Kidney Disease-Mineral and Bone Disorder - Financial Help for Treatment of Kidney Failure\n \nLearning as much as you can about your treatment will help make you an important member of your health care team.\n \n\n \n\n \nThis content is provided as a service of the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), part of the National Institutes of Health. The NIDDK translates and disseminates research findings through its clearinghouses and education programs to increase knowledge and understanding about health and disease among patients, health professionals, and the public. Content produced by the NIDDK is carefully reviewed by NIDDK scientists and other experts.\n \nThe NIDDK would like to thank: Neil R. Powe, M.D., M.P.H., M.B.A., University of California, San Francisco; Delphine Tuot, M.D.C.M., M.A.S., University of California, San Francisco; Vicki McClelland and Brian Testerman, both of the Free Medical Clinic of Northern Shenandoah Valley in Winchester, VA\n \nThis information is not copyrighted. The NIDDK encourages people to share this content freely.\n \n\n \n\n \nSeptember 2014", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency ?"}, {"role": "assistant", "content": "Mutations in the HADHA gene cause LCHAD deficiency. The HADHA gene provides instructions for making part of an enzyme complex called mitochondrial trifunctional protein. This enzyme complex functions in mitochondria, the energy-producing centers within cells. As the name suggests, mitochondrial trifunctional protein contains three enzymes that each perform a different function. This enzyme complex is required to break down (metabolize) a group of fats called long-chain fatty acids. Long-chain fatty acids are found in foods such as milk and certain oils. These fatty acids are stored in the body's fat tissues. Fatty acids are a major source of energy for the heart and muscles. During periods of fasting, fatty acids are also an important energy source for the liver and other tissues. Mutations in the HADHA gene that cause LCHAD deficiency disrupt one of the functions of this enzyme complex. These mutations prevent the normal processing of long-chain fatty acids from food and body fat. As a result, these fatty acids are not converted to energy, which can lead to some features of this disorder, such as lethargy and hypoglycemia. Long-chain fatty acids or partially metabolized fatty acids may also build up and damage the liver, heart, muscles, and retina. This abnormal buildup causes the other signs and symptoms of LCHAD deficiency.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) dopamine transporter deficiency syndrome ?"}, {"role": "assistant", "content": "Dopamine transporter deficiency syndrome is a rare movement disorder. The condition is also known as infantile parkinsonism-dystonia because the problems with movement (dystonia and parkinsonism, described below) usually start in infancy and worsen over time. However, the features of the condition sometimes do not appear until childhood or later. People with dopamine transporter deficiency syndrome develop a pattern of involuntary, sustained muscle contractions known as dystonia. The dystonia is widespread (generalized), affecting many different muscles. The continuous muscle cramping and spasms cause difficulty with basic activities, including speaking, eating, drinking, picking up objects, and walking. As the condition worsens, affected individuals develop parkinsonism, which is a group of movement abnormalities including tremors, unusually slow movement (bradykinesia), rigidity, and an inability to hold the body upright and balanced (postural instability). Other signs and symptoms that can develop include abnormal eye movements; reduced facial expression (hypomimia); disturbed sleep; frequent episodes of pneumonia; and problems with the digestive system, including a backflow of acidic stomach contents into the esophagus (gastroesophageal reflux) and constipation. People with dopamine transporter deficiency syndrome may have a shortened lifespan, although the long-term effects of this condition are not fully understood. Children with this condition have died from pneumonia and breathing problems. When the first signs and symptoms appear later in life, affected individuals may survive into adulthood.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant ?"}, {"role": "assistant", "content": "The SBBYS variant of Ohdo syndrome is estimated to occur in fewer than 1 per million people. At least 19 cases have been reported in the medical literature.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Carbon Monoxide Poisoning ?"}, {"role": "assistant", "content": "Carbon monoxide (CO) is a gas that has no odor or color. But it is very dangerous. It can cause sudden illness and death. CO is found in combustion fumes, such as those made by cars and trucks, lanterns, stoves, gas ranges and heating systems. CO from these fumes can build up in places that don't have a good flow of fresh air. You can be poisoned by breathing them in. The most common symptoms of CO poisoning are - Headache - Dizziness - Weakness - Nausea - Vomiting - Chest pain - Confusion It is often hard to tell if someone has CO poisoning, because the symptoms may be like those of other illnesses. People who are sleeping or intoxicated can die from CO poisoning before they have symptoms. A CO detector can warn you if you have high levels of CO in your home. Centers for Disease Control and Prevention", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) 17 alpha-hydroxylase/17,20-lyase deficiency ?"}, {"role": "assistant", "content": "17 alpha()-hydroxylase/17,20-lyase deficiency is a condition that affects the function of certain hormone-producing glands called the gonads (ovaries in females and testes in males) and the adrenal glands. The gonads direct sexual development before birth and during puberty and are important for reproduction. The adrenal glands, which are located on top of the kidneys, regulate the production of certain hormones, including those that control salt levels in the body. People with 17-hydroxylase/17,20-lyase deficiency have an imbalance of many of the hormones that are made in these glands. 17-hydroxylase/17,20-lyase deficiency is one of a group of disorders, known as congenital adrenal hyperplasias, that impair hormone production and disrupt sexual development and maturation. Hormone imbalances lead to the characteristic signs and symptoms of 17-hydroxylase/17,20-lyase deficiency, which include high blood pressure (hypertension), low levels of potassium in the blood (hypokalemia), and abnormal sexual development. The severity of the features varies. Two forms of the condition are recognized: complete 17-hydroxylase/17,20-lyase deficiency, which is more severe, and partial 17-hydroxylase/17,20-lyase deficiency, which is typically less so. Males and females are affected by disruptions to sexual development differently. Females (who have two X chromosomes) with 17-hydroxylase/17,20-lyase deficiency are born with normal external female genitalia; however, the internal reproductive organs, including the uterus and ovaries, may be underdeveloped. Women with complete 17-hydroxylase/17,20-lyase deficiency do not develop secondary sex characteristics, such as breasts and pubic hair, and do not menstruate (amenorrhea). Women with partial 17-hydroxylase/17,20-lyase deficiency may develop some secondary sex characteristics; menstruation is typically irregular or absent. Either form of the disorder results in an inability to conceive a baby (infertility). In affected individuals who are chromosomally male (having an X and a Y chromosome), problems with sexual development lead to abnormalities of the external genitalia. The most severely affected are born with characteristically female external genitalia and are generally raised as females. However, because they do not have female internal reproductive organs, these individuals have amenorrhea and do not develop female secondary sex characteristics. These individuals have testes, but they are abnormally located in the abdomen (undescended). Sometimes, complete 17-hydroxylase/17,20-lyase deficiency leads to external genitalia that do not look clearly male or clearly female (ambiguous genitalia). Males with partial 17-hydroxylase/17,20-lyase deficiency usually have abnormal male genitalia, such as a small penis (micropenis), the opening of the urethra on the underside of the penis (hypospadias), or a scrotum divided into two lobes (bifid scrotum). Males with either complete or partial 17-hydroxylase/17,20-lyase deficiency are also infertile.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) 22q11.2 deletion syndrome ?"}, {"role": "assistant", "content": "22q11.2 deletion syndrome is a spectrum disorder that includes conditions formerly called DiGeorge syndrome; velocardiofacial syndrome; conotruncal anomaly face syndrome; cases of Opitz G/BBB syndrome; and Cayler cardiofacial syndrome. The features and severity can vary greatly among affected people. Signs and symptoms may include cleft palate, heart defects, recurrent infections, unique facial characteristics, feeding problems, immune system disorders, kidney abnormalities, hypoparathyroidism, thrombocytopenia, scoliosis, hearing loss, developmental delay, and learning disabilities. People with this condition are also more likely to develop certain autoimmune disorders and personality disorders. In most cases, the syndrome occurs for the first time in the affected person; about 10% of cases are inherited from a parent. It is inherited in an autosomal dominant manner.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Glycogen storage disease type 6 ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Glycogen storage disease type 6? The Human Phenotype Ontology provides the following list of signs and symptoms for Glycogen storage disease type 6. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Hypoglycemia 90% Short stature 90% Autosomal recessive inheritance - Hepatomegaly - Increased hepatic glycogen content - Postnatal growth retardation - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Gestational trophoblastic tumor ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Gestational trophoblastic tumor? The Human Phenotype Ontology provides the following list of signs and symptoms for Gestational trophoblastic tumor. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the menstrual cycle 90% Spontaneous abortion 90% Neoplasm of the liver 50% Neoplasm of the lung 50% Neoplasm of the nervous system 50% Renal neoplasm 50% Vaginal neoplasm 50% Abnormality of the genitourinary system - Autosomal recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Primrose syndrome ?"}, {"role": "assistant", "content": "What causes primrose syndrome? The cause of primrose syndrome is currently unknown. Cases of affected males and a affected female have been reported in the literature. All cases seem to be sporadic. Sporadic refers to either a genetic disorder that occurs for the first time in a family due to a new mutation or the chance occurrence of a non-genetic disorder or abnormality that is not likely to recur in a family.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to MECP2-related severe neonatal encephalopathy ?"}, {"role": "assistant", "content": "Mutations in the MECP2 gene cause MECP2-related severe neonatal encephalopathy. The MECP2 gene provides instructions for making a protein called MeCP2 that is critical for normal brain function. Researchers believe that this protein has several functions, including regulating other genes in the brain by switching them on or off as they are needed. The MeCP2 protein likely plays a role in maintaining the normal function of nerve cells, which ensures that connections (synapses) between these cells form properly. The MeCP2 protein may also control the production of different versions of certain proteins in nerve cells. Although mutations in the MECP2 gene disrupt the normal function of nerve cells, it is unclear how these mutations lead to the signs and symptoms of MECP2-related severe neonatal encephalopathy.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) hereditary fructose intolerance ?"}, {"role": "assistant", "content": "Hereditary fructose intolerance is a condition that affects a person's ability to digest the sugar fructose. Fructose is a simple sugar found primarily in fruits. Affected individuals develop signs and symptoms of the disorder in infancy when fruits, juices, or other foods containing fructose are introduced into the diet. After ingesting fructose, individuals with hereditary fructose intolerance may experience nausea, bloating, abdominal pain, diarrhea, vomiting, and low blood sugar (hypoglycemia). Affected infants may fail to grow and gain weight at the expected rate (failure to thrive). Repeated ingestion of fructose-containing foods can lead to liver and kidney damage. The liver damage can result in a yellowing of the skin and whites of the eyes (jaundice), an enlarged liver (hepatomegaly), and chronic liver disease (cirrhosis). Continued exposure to fructose may result in seizures, coma, and ultimately death from liver and kidney failure. Due to the severity of symptoms experienced when fructose is ingested, most people with hereditary fructose intolerance develop a dislike for fruits, juices, and other foods containing fructose. Hereditary fructose intolerance should not be confused with a condition called fructose malabsorption. In people with fructose malabsorption, the cells of the intestine cannot absorb fructose normally, leading to bloating, diarrhea or constipation, flatulence, and stomach pain. Fructose malabsorption is thought to affect approximately 40 percent of individuals in the Western hemisphere; its cause is unknown.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Gastrointestinal Carcinoid Tumors ?"}, {"role": "assistant", "content": "Key Points\n - There are different types of treatment for patients with gastrointestinal carcinoid tumors. - Four types of standard treatment are used: - Surgery - Radiation therapy - Chemotherapy - Hormone therapy - Treatment for carcinoid syndrome may also be needed. - New types of treatment are being tested in clinical trials. - Targeted therapy - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed.\n \n \n There are different types of treatment for patients with gastrointestinal carcinoid tumors.\n Different types of treatment are available for patients with gastrointestinal carcinoid tumor. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Patients may want to think about taking part in a clinical trial. Some clinical trials are open only to patients who have not started treatment.\n \n \n Four types of standard treatment are used:\n Surgery Treatment of GI carcinoid tumors usually includes surgery. One of the following surgical procedures may be used: - Endoscopic resection: Surgery to remove a small tumor that is on the inside lining of the GI tract. An endoscope is inserted through the mouth and passed through the esophagus to the stomach and sometimes, the duodenum. An endoscope is a thin, tube-like instrument with a light, a lens for viewing, and a tool for removing tumor tissue. - Local excision: Surgery to remove the tumor and a small amount of normal tissue around it. - Resection: Surgery to remove part or all of the organ that contains cancer. Nearby lymph nodes may also be removed. - Cryosurgery: A treatment that uses an instrument to freeze and destroy carcinoid tumor tissue. This type of treatment is also called cryotherapy. The doctor may use ultrasound to guide the instrument. - Radiofrequency ablation: The use of a special probe with tiny electrodes that release high-energy radio waves (similar to microwaves) that kill cancer cells. The probe may be inserted through the skin or through an incision (cut) in the abdomen. - Liver transplant: Surgery to remove the whole liver and replace it with a healthy donated liver. - Hepatic artery embolization: A procedure to embolize (block) the hepatic artery, which is the main blood vessel that brings blood into the liver. Blocking the flow of blood to the liver helps kill cancer cells growing there. Radiation therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy: - External radiation therapy uses a machine outside the body to send radiation toward the cancer. - Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. Radiopharmaceutical therapy is a type of internal radiation therapy. Radiation is given to the tumor using a drug that has a radioactive substance, such as iodine I 131, attached to it. The radioactive substance kills the tumor cells. External and internal radiation therapy are used to treat gastrointestinal carcinoid tumors that have spread to other parts of the body. Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping the cells from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). Chemoembolization of the hepatic artery is a type of regional chemotherapy that may be used to treat a gastrointestinal carcinoid tumor that has spread to the liver. The anticancer drug is injected into the hepatic artery through a catheter (thin tube). The drug is mixed with a substance that embolizes (blocks) the artery, and cuts off blood flow to the tumor. Most of the anticancer drug is trapped near the tumor and only a small amount of the drug reaches other parts of the body. The blockage may be temporary or permanent, depending on the substance used to block the artery. The tumor is prevented from getting the oxygen and nutrients it needs to grow. The liver continues to receive blood from the hepatic portal vein, which carries blood from the stomach and intestine. The way the chemotherapy is given depends on the type and stage of the cancer being treated. Hormone therapy Hormone therapy with a somatostatin analogue is a treatment that stops extra hormones from being made. GI carcinoid tumors are treated with octreotide or lanreotide which are injected under the skin or into the muscle. Octreotide and lanreotide may also have a small effect on stopping tumor growth.\n \n \n Treatment for carcinoid syndrome may also be needed.\n Treatment of carcinoid syndrome may include the following: - Hormone therapy with a somatostatin analogue stops extra hormones from being made. Carcinoid syndrome is treated with octreotide or lanreotide to lessen flushing and diarrhea. Octreotide and lanreotide may also help slow tumor growth. - Interferon therapy stimulates the bodys immune system to work better and lessens flushing and diarrhea. Interferon may also help slow tumor growth. - Taking medicine for diarrhea. - Taking medicine for skin rashes. - Taking medicine to breathe easier. - Taking medicine before having anesthesia for a medical procedure. Other ways to help treat carcinoid syndrome include avoiding things that cause flushing or difficulty breathing such as alcohol, nuts, certain cheeses and foods with capsaicin, such as chili peppers. Avoiding stressful situations and certain types of physical activity can also help treat carcinoid syndrome. For some patients with carcinoid heart syndrome, a heart valve replacement may be done.\n \n \n New types of treatment are being tested in clinical trials.\n This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. Targeted therapy Targeted therapy is a type of treatment that uses drugs or other substances to identify and attack specific cancer cells without harming normal cells. Several types of targeted therapy are being studied in the treatment of GI carcinoid tumors.\n \n \n Patients may want to think about taking part in a clinical trial.\n For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward.\n \n \n Patients can enter clinical trials before, during, or after starting their cancer treatment.\n Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.\n \n \n Follow-up tests may be needed.\n Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups.\n \n \n\t\t \n\t\t Treatment Options for Gastrointestinal Carcinoid Tumors\n\t\t \n\t\t \n\t\t Carcinoid Tumors in the Stomach\n\t\t Treatment of gastrointestinal (GI) carcinoid tumors in the stomach may include the following: - Endoscopic surgery (resection) for small tumors. - Surgery (resection) to remove part or all of the stomach. Nearby lymph nodes for larger tumors, tumors that grow deep into the stomach wall, or tumors that are growing and spreading quickly may also be removed. For patients with GI carcinoid tumors in the stomach and MEN1 syndrome, treatment may also include: - Surgery (resection) to remove tumors in the duodenum (first part of the small intestine, that connects to the stomach). - Hormone therapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with localized gastrointestinal carcinoid tumor and regional gastrointestinal carcinoid tumor. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.\n\t\t \n\t\t \n\t\t Carcinoid Tumors in the Small Intestine\n\t\t It is not clear what the best treatment is for GI carcinoid tumors in the duodenum (first part of the small intestine, that connects to the stomach). Treatment may include the following: - Endoscopic surgery (resection) for small tumors. - Surgery (local excision) to remove slightly larger tumors. - Surgery (resection) to remove the tumor and nearby lymph nodes. Treatment of GI carcinoid tumors in the jejunum (middle part of the small intestine) and ileum (last part of the small intestine, that connects to the colon) may include the following: - Surgery (resection) to remove the tumor and the membrane that connects the intestines to the back of the abdominal wall. Nearby lymph nodes are also removed. - A second surgery to remove the membrane that connects the intestines to the back of the abdominal wall, if any tumor remains or the tumor continues to grow. - Hormone therapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with localized gastrointestinal carcinoid tumor and regional gastrointestinal carcinoid tumor. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.\n\t\t \n\t\t \n\t\t Carcinoid Tumors in the Appendix\n\t\t Treatment of GI carcinoid tumors in the appendix may include the following: - Surgery (resection) to remove the appendix. - Surgery (resection) to remove the right side of the colon including the appendix. Nearby lymph nodes are also removed. Check the list of NCI-supported cancer clinical trials that are now accepting patients with localized gastrointestinal carcinoid tumor and regional gastrointestinal carcinoid tumor. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.\n\t\t \n\t\t \n\t\t Carcinoid Tumors in the Colon\n\t\t Treatment of GI carcinoid tumors in the colon may include the following: - Surgery (resection) to remove part of the colon and nearby lymph nodes, in order to remove as much of the cancer as possible. Check the list of NCI-supported cancer clinical trials that are now accepting patients with localized gastrointestinal carcinoid tumor and regional gastrointestinal carcinoid tumor. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.\n\t\t \n\t\t \n\t\t Carcinoid Tumors in the Rectum\n\t\t Treatment of GI carcinoid tumors in the rectum may include the following: - Endoscopic surgery (resection) for tumors that are smaller than 1 centimeter. - Surgery (resection) for tumors that are larger than 2 centimeters or that have spread to the muscle layer of the rectal wall. This may be either: - surgery to remove part of the rectum; or - surgery to remove the anus, the rectum, and part of the colon through an incision made in the abdomen. It is not clear what the best treatment is for tumors that are 1 to 2 centimeters. Treatment may include the following: - Endoscopic surgery (resection). - Surgery (resection) to remove part of the rectum. - Surgery (resection) to remove the anus, the rectum, and part of the colon through an incision made in the abdomen. Check the list of NCI-supported cancer clinical trials that are now accepting patients with localized gastrointestinal carcinoid tumor and regional gastrointestinal carcinoid tumor. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.\n\t\t \n\t\t \n\t\t Metastatic Gastrointestinal Carcinoid Tumors\n\t\t Distant metastases Treatment of distant metastases of GI carcinoid tumors is usually palliative therapy to relieve symptoms and improve quality of life. Treatment may include the following: - Surgery (resection) to remove as much of the tumor as possible. - Hormone therapy. - Radiopharmaceutical therapy. - External radiation therapy for cancer that has spread to the bone, brain, or spinal cord. - A clinical trial of a new treatment. Liver metastases Treatment of cancer that has spread to the liver may include the following: - Surgery (local excision) to remove the tumor from the liver. - Hepatic artery embolization. - Cryosurgery. - Radiofrequency ablation. - Liver transplant. Check the list of NCI-supported cancer clinical trials that are now accepting patients with metastatic gastrointestinal carcinoid tumor. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.\n\t\t \n\t\t \n\t\t Recurrent Gastrointestinal Carcinoid Tumors\n\t\t Treatment of recurrent GI carcinoid tumors may include the following: - Surgery (local excision) to remove part or all of the tumor. - A clinical trial of a new treatment. Check the list of NCI-supported cancer clinical trials that are now accepting patients with recurrent gastrointestinal carcinoid tumor. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to alveolar capillary dysplasia with misalignment of pulmonary veins ?"}, {"role": "assistant", "content": "ACD/MPV can be caused by mutations in the FOXF1 gene. The protein produced from the FOXF1 gene is a transcription factor, which means that it attaches (binds) to specific regions of DNA and helps control the activity of many other genes. The FOXF1 protein is important in development of the lungs and their blood vessels. The FOXF1 protein is also involved in the development of the gastrointestinal tract. Mutations in the FOXF1 gene that cause ACD/MPV result in an inactive protein that cannot regulate development, leading to abnormal formation of the pulmonary blood vessels and gastrointestinal tract. ACD/MPV can also be caused by a deletion of genetic material on the long arm of chromosome 16 in a region known as 16q24.1. This region includes several genes, including the FOXF1 gene. Deletion of one copy of the FOXF1 gene in each cell reduces the production of the FOXF1 protein. A shortage of FOXF1 protein affects the development of pulmonary blood vessels and causes the main features of ACD/MPV. Researchers suggest that the loss of other genes in this region probably causes the additional abnormalities, such as heart defects, seen in some infants with this disorder. Like FOXF1, these genes also provide instructions for making transcription factors that regulate development of various body systems before birth. In about 60 percent of affected infants, the genetic cause of ACD/MPV is unknown.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Parasites - Cysticercosis ?"}, {"role": "assistant", "content": "If you think that you may have cysticercosis, please see your health care provider. Your health care provider will ask you about your symptoms, where you have travelled, and what kinds of foods you eat. The diagnosis of neurocysticercosis usually requires MRI or CT brain scans. Blood tests may be useful to help diagnose an infection, but they may not always be positive in light infections.\n \nIf you have been diagnosed with cysticercosis, you and your family members should be tested for intestinal tapeworm infection. See the taeniasis section for more information on intestinal tapeworm infections. \n \nMore on: Taeniasis\n \nMore on: Resources for Health Professionals: Diagnosis", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Post-Polio Syndrome ?"}, {"role": "assistant", "content": "Presently, no prevention has been found that can stop deterioration or reverse the deficits caused by the syndrome A number of controlled studies have demonstrated that nonfatiguing exercises may improve muscle strength and reduce tiredness. Doctors recommend that polio survivors follow standard healthy lifestyle practices: consuming a well-balanced diet, exercising judiciously (preferably under the supervision of an experienced health professional), and visiting a doctor regularly. There has been much debate about whether to encourage or discourage exercise for polio survivors or individuals who already have PPS. A commonsense approach, in which people use individual tolerance as their limit, is currently recommended. Preliminary studies indicate that intravenous immunoglobulin therapy may reduce pain, increase quality of life, and improve strength modestly.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Juvenile retinoschisis inherited ?"}, {"role": "assistant", "content": "How is juvenile retinoschisis inherited? Juvenile retinoschisis is inherited in an x-linked recessive pattern. The gene associated with this condition is located on the X chromosome, one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation must be present in both copies of the gene to cause the disorder. Males are affected by X-linked recessive disorders much more frequently than females. A striking characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. In X-linked recessive inheritance, a female with one mutated copy of the gene (mutation) in each cell is called a carrier. She can pass on the mutation, but usually does not experience signs and symptoms of the condition. Carrier women have a 50% chance of passing the mutation to their children, males who inherit the mutation will be affected; females who inherit the mutation will be carriers and will nearly always have normal vision. Carrier testing for at-risk female relatives and prenatal testing for pregnancies at increased risk are possible if the disease-causing mutation in the family is known.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to van der Woude syndrome ?"}, {"role": "assistant", "content": "Mutations in the IRF6 gene cause van der Woude syndrome. The IRF6 gene provides instructions for making a protein that plays an important role in early development. This protein is a transcription factor, which means that it attaches (binds) to specific regions of DNA and helps control the activity of particular genes. The IRF6 protein is active in cells that give rise to tissues in the head and face. It is also involved in the development of other parts of the body, including the skin and genitals. Mutations in the IRF6 gene that cause van der Woude syndrome prevent one copy of the gene in each cell from making any functional protein. A shortage of the IRF6 protein affects the development and maturation of tissues in the face, resulting in the signs and symptoms of van der Woude syndrome.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by von Hippel-Lindau syndrome ?"}, {"role": "assistant", "content": "The incidence of von Hippel-Lindau syndrome is estimated to be 1 in 36,000 individuals.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Fainting ?"}, {"role": "assistant", "content": "Fainting is a temporary loss of consciousness. If you're about to faint, you'll feel dizzy, lightheaded, or nauseous. Your field of vision may \"white out\" or \"black out.\" Your skin may be cold and clammy. You lose muscle control at the same time, and may fall down. Fainting usually happens when your blood pressure drops suddenly, causing a decrease in blood flow to your brain. It is more common in older people. Some causes of fainting include - Heat or dehydration - Emotional distress - Standing up too quickly - Certain medicines - Drop in blood sugar - Heart problems When someone faints, make sure that the airway is clear and check for breathing. The person should stay lying down for 10-15 minutes. Most people recover completely. Fainting is usually nothing to worry about, but it can sometimes be a sign of a serious problem. If you faint, it's important to see your health care provider and find out why it happened.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis? The Human Phenotype Ontology provides the following list of signs and symptoms for Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the eyelashes 90% Aplasia/Hypoplasia of the eyebrow 90% Hepatomegaly 90% Ichthyosis 90% Splenomegaly 90% Abnormality of dental enamel 7.5% Acanthosis nigricans 7.5% Portal hypertension 7.5% Reduced number of teeth 7.5% Abnormality of blood and blood-forming tissues - Alopecia - Autosomal recessive inheritance - Cholangitis - Dry skin - Hypodontia - Hypoplasia of dental enamel - Hypotrichosis - Jaundice - Oligodontia - Orthokeratosis - Parakeratosis - Sparse eyelashes - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Langerhans cell histiocytosis ?"}, {"role": "assistant", "content": "Langerhans cell histiocytosis (LCH) is a disorder that primarily affects children, but is also found in adults of all ages. People with LCH produce too many Langerhans cells or histiocytes, a form of white blood cell found in healthy people that is supposed to protect the body from infection. In people with LCH, these cells multiply excessively and build up in certain areas of the body, causing tumors called granulomas to form. The symptoms vary among affected individuals, and the cause of LCH is unknown. In most cases, this condition is not life-threatening. Some people do experience life-long problems associated with LCH.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Peters plus syndrome ?"}, {"role": "assistant", "content": "Is there genetic testing available for Peters plus syndrome? Genetic testing is available for Peters plus syndrome. Click here to obtain a list of clinical laboratories offering genetic testing. Carrier testing for at-risk family members and prenatal diagnosis for pregnancies at increased risk are possible if the disease-causing mutations in the family are known. To learn more about the various options available to you, we recommend you work with your health care provider or a genetics professional to contact the laboratories offering prenatal testing.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Limb-girdle muscular dystrophy type 2I ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Limb-girdle muscular dystrophy type 2I? The Human Phenotype Ontology provides the following list of signs and symptoms for Limb-girdle muscular dystrophy type 2I. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Exercise-induced myoglobinuria 25% Achilles tendon contracture - Autosomal recessive inheritance - Calf muscle hypertrophy - Congenital muscular dystrophy - Difficulty climbing stairs - Difficulty walking - Dilated cardiomyopathy - Elevated serum creatine phosphokinase - Frequent falls - Hyperlordosis - Impaired left ventricular function - Kyphosis - Macroglossia - Muscle cramps - Myalgia - Nocturnal hypoventilation - Pelvic girdle muscle weakness - Proximal muscle weakness - Restrictive respiratory insufficiency - Scoliosis - Shoulder girdle muscle weakness - Thigh hypertrophy - Toe walking - Variable expressivity - Vertebral fusion - Waddling gait - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for erythrokeratodermia variabilis et progressiva ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of EKVP: - Genetic Testing Registry: Erythrokeratodermia variabilis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Osteopathia striata cranial sclerosis ?"}, {"role": "assistant", "content": "Osteopathia striata cranial sclerosis is a type of skeletal dysplasia, which refers to a group of genetic conditions that affect the bones and hinder growth and development. The severity of the condition and the associated symptoms vary significantly from person to person, even within a single family. Features of the condition are generally present at birth and may include skeletal abnormalities (particularly at the ends of long bones), sclerosis (hardening) of the craniofacial bones, macrocephaly (unusually large head size), and characteristic facial features. Some affected people may also have developmental delay, hearing loss, heart defects and/or ophthalmoplegia (paralysis of the muscles surrounding the eyes). Osteopathia striata cranial sclerosis is caused by changes (mutations) in the WTX gene and is inherited in an X-linked dominant manner. Treatment is based on the signs and symptoms present in each person.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) histiocytosis-lymphadenopathy plus syndrome ?"}, {"role": "assistant", "content": "Histiocytosis-lymphadenopathy plus syndrome (also known as SLC29A3 spectrum disorder) is a group of conditions with overlapping signs and symptoms that affect many parts of the body. This group of disorders includes H syndrome, pigmented hypertrichosis with insulin-dependent diabetes mellitus (PHID), Faisalabad histiocytosis, and familial Rosai-Dorfman disease (also known as sinus histiocytosis with massive lymphadenopathy or SHML). These conditions were once thought to be distinct disorders; however, because of the overlapping features and shared genetic cause, they are now considered to be part of the same disease spectrum. While some affected individuals have signs and symptoms characteristic of one of the conditions, others have a range of features from two or more of the conditions. The pattern of signs and symptoms can vary even within the same family. A feature common to the disorders in this spectrum is histiocytosis, which is the overgrowth of immune system cells called histiocytes. The cells abnormally accumulate in one or more tissues in the body, which can lead to organ or tissue damage. The buildup often occurs in the lymph nodes, leading to swelling of the lymph nodes (lymphadenopathy). Other areas of cell accumulation can include the skin, kidneys, brain and spinal cord (central nervous system), or digestive tract. This spectrum is known as histiocytosis-lymphadenopathy plus syndrome because the disorders that make up the spectrum can have additional signs and symptoms. A characteristic feature of H syndrome is abnormal patches of skin (lesions), typically on the lower body. These lesions are unusually dark (hyperpigmented) and have excessive hair growth (hypertrichosis). In addition, histiocytes accumulate at the site of the skin lesions. Other features of H syndrome include enlargement of the liver (hepatomegaly), heart abnormalities, hearing loss, reduced amounts of hormones that direct sexual development (hypogonadism), and short stature. Like H syndrome, PHID causes patches of hyperpigmented skin with hypertrichosis. PHID is also characterized by the development of type 1 diabetes (also known as insulin-dependent diabetes mellitus), which usually begins in childhood. Type 1 diabetes occurs when the body does not produce enough of the hormone insulin, leading to dysregulation of blood sugar levels. Faisalabad histiocytosis typically causes lymphadenopathy and swelling of the eyelids due to accumulation of histiocytes. Affected individuals can also have joint deformities called contractures in their fingers or toes and hearing loss. The most common feature of familial Rosai-Dorfman disease is lymphadenopathy, usually affecting lymph nodes in the neck. Histiocytes can also accumulate in other parts of the body.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Tracheobronchopathia osteoplastica ?"}, {"role": "assistant", "content": "What causes tracheobronchopathia osteoplastica? The underlying cause of tracheobronchopathia osteoplastica (TO) remains unknown. Several theories have been proposed, including chronic airway inflammation, exostosis (formation of new bone), and metaplasia (abnormal cell changes) in the affected tissue. Numerous cases have been reported in association with different conditions including allergic rhinitis. However, no theories have been validated. There is no known genetic susceptibility to the development of TO.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is X-linked myotubular myopathy inherited ?"}, {"role": "assistant", "content": "X-linked myotubular myopathy is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation must be present in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. In X-linked myotubular myopathy, the affected male inherits one altered copy from his mother in 80 to 90 percent of cases. In the remaining 10 to 20 percent of cases, the disorder results from a new mutation in the gene that occurs during the formation of a parent's reproductive cells (eggs or sperm) or in early embryonic development. Females with one altered copy of the MTM1 gene generally do not experience signs and symptoms of the disorder. In rare cases, however, females who have one altered copy of the MTM1 gene experience some mild muscle weakness.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Ectodermal dysplasia, hidrotic, Christianson-Fourie type ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Ectodermal dysplasia, hidrotic, Christianson-Fourie type? The Human Phenotype Ontology provides the following list of signs and symptoms for Ectodermal dysplasia, hidrotic, Christianson-Fourie type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair quantity 90% Abnormality of the eye 90% Abnormality of the fingernails 90% Aplasia/Hypoplasia of the eyebrow 90% Arrhythmia 7.5% Absent eyebrow - Autosomal dominant inheritance - Bradycardia - Fair hair - Hidrotic ectodermal dysplasia - Nail dystrophy - Paroxysmal supraventricular tachycardia - Short eyelashes - Sparse axillary hair - Sparse pubic hair - Sparse scalp hair - Thick nail - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to Laron syndrome ?"}, {"role": "assistant", "content": "Laron syndrome is caused by mutations in the GHR gene. This gene provides instructions for making a protein called the growth hormone receptor. The receptor is present on the outer membrane of cells throughout the body, particularly liver cells. As its name suggests, the growth hormone receptor attaches (binds) to growth hormone; the two proteins fit together like a key in a lock. When growth hormone is bound to its receptor, it triggers signaling that stimulates the growth and division of cells. This signaling also leads to the production, primarily by liver cells, of another important growth-promoting hormone called insulin-like growth factor I (IGF-I). Growth hormone and IGF-I have a wide variety of effects on the growth and function of many parts of the body. For example, these hormones stimulate the growth and division of cells called chondrocytes, which play a critical role in producing new bone tissue. Growth hormone and IGF-I also influence metabolism, including how the body uses and stores carbohydrates, proteins, and fats from food. Mutations in the GHR gene impair the receptor's ability to bind to growth hormone or to trigger signaling within cells. As a result, even when growth hormone is available, cells are unable to respond by producing IGF-I and stimulating growth and division. The cells' inability to react to growth hormone, which is described as growth hormone insensitivity, disrupts the normal growth and function of many different tissues. Short stature results when growth hormone cannot adequately stimulate the growth of bones. Changes in metabolism caused by insensitivity to growth hormone and the resulting shortage of IGF-I cause many of the other features of the condition, including obesity. Researchers are working to determine how mutations in the GHR gene may protect people with Laron syndrome from developing cancer and type 2 diabetes. Studies suggest that insensitivity to growth hormone may help prevent the uncontrolled growth and division of cells that can lead to the development of cancerous tumors. Growth hormone insensitivity also appears to alter how the body responds to insulin, which is a hormone that regulates blood sugar levels. Resistance to the effects of insulin is a major risk factor for type 2 diabetes. People with Laron syndrome have the opposite situation, an increased sensitivity to insulin, which likely helps explain their reduced risk of this common disease.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is ankyloblepharon-ectodermal defects-cleft lip/palate syndrome inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Hepatoblastoma ?"}, {"role": "assistant", "content": "Hepatoblastoma is a rare malignant (cancerous) tumor of the liver that usually occurs in the first 3 years of life. In early stages of the condition, there may be no concerning signs or symptoms. As the tumor gets larger, affected children may experience a painful, abdominal lump; swelling of the abdomen; unexplained weight loss; loss of appetite; and/or nausea and vomiting. The exact underlying cause of hepatoblastoma is poorly understood. Risk factors for the tumor include prematurity with a very low birth weight, early exposure to hepatitis B infection, biliary atresia, and several different genetic conditions (i.e. Beckwith-Wiedemann syndrome, familial adenomatous polyposis, Aicardi syndrome, Glycogen storage disease, and Simpson-Golabi-Behmel syndrome). Treatment varies based on the severity of the condition but may include a combination of surgery, watchful waiting, chemotherapy, and/or radiation therapy.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Machado-Joseph Disease ?"}, {"role": "assistant", "content": "Machado-Joseph disease (MJD), which is also called spinocerebellar ataxia type 3, is a rare hereditary ataxia (ataxia is a medical term meaning lack of muscle control). The disease is characterized by slowly progressive clumsiness and weakness in the arms and legs, spasticity, a staggering lurching gait easily mistaken for drunkenness, difficulty with speech and swallowing, involuntary eye movements, double vision, and frequent urination. Some individuals also have dystonia (sustained muscle contractions that cause twisting of the body and limbs, repetitive movements, abnormal postures, and rigidity) or symptoms similar to those of Parkinson's disease. Others have twitching of the face or tongue, or peculiar bulging eyes. Almost all individuals with MJD experience vision problems, including double vision or blurred vision, loss of the ability to distinguish color and/or contrast, and inability to control eye movements.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Pallister-Killian mosaic syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Pallister-Killian mosaic syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Pallister-Killian mosaic syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair quantity 90% Aplasia/Hypoplasia of the eyebrow 90% Cognitive impairment 90% Decreased body weight 90% Delayed eruption of teeth 90% Delayed skeletal maturation 90% Downturned corners of mouth 90% Hypohidrosis 90% Joint hypermobility 90% Long philtrum 90% Muscular hypotonia 90% Ptosis 90% Short neck 90% Thin vermilion border 90% Anteverted nares 50% Coarse facial features 50% Frontal bossing 50% Hypertelorism 50% Short nose 50% Telecanthus 50% Upslanted palpebral fissure 50% Abnormality of the soft palate 7.5% Strabismus 7.5% Urogenital fistula 7.5% Anal atresia - Anal stenosis - Anteriorly placed anus - Aortic valve stenosis - Aplasia of the uterus - Atria septal defect - Bifid uvula - Broad foot - Broad palm - Cataract - Cleft palate - Clinodactyly of the 5th finger - Coarctation of aorta - Congenital diaphragmatic hernia - Congenital hip dislocation - Cryptorchidism - Depressed nasal bridge - Epicanthus - Flexion contracture - Full cheeks - Hearing impairment - Hyperpigmented streaks - Hypertonia - Hypertrophic cardiomyopathy - Hypopigmented streaks - Hypoplastic labia majora - Hypospadias - Inguinal hernia - Intellectual disability, profound - Intestinal malrotation - Kyphoscoliosis - Macrocephaly - Macroglossia - Macrotia - Mesomelia - Mesomelic/rhizomelic limb shortening - Obesity - Omphalocele - Patent ductus arteriosus - Postaxial foot polydactyly - Postaxial hand polydactyly - Postnatal microcephaly - Prominent forehead - Proptosis - Pulmonary hypoplasia - Renal cyst - Renal dysplasia - Rhizomelia - Seizures - Short phalanx of finger - Short toe - Single transverse palmar crease - Small scrotum - Somatic mosaicism - Sparse anterior scalp hair - Sparse eyebrow - Sparse eyelashes - Stenosis of the external auditory canal - Stillbirth - Supernumerary nipple - Umbilical hernia - Ventricular septal defect - Webbed neck - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Progressive bulbar palsy ?"}, {"role": "assistant", "content": "Progressive bulbar palsy involves the brain stem. The brain stem is the part of the brain needed for swallowing, speaking, chewing, and other functions. Signs and symptoms of progressive bulbar palsy include difficulty swallowing, weak jaw and facial muscles, progressive loss of speech, and weakening of the tongue. Additional symptoms include less prominent weakness in the arms and legs, and outbursts of laughing or crying (called emotional lability). Progressive bulbar palsy is considered a variant form of amyotrophic lateral sclerosis (ALS). Many people with progressive bulbar palsy later develop ALS. While there is no cure for progressive bulbar palsy or for ALS, doctors can treat symptoms.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Dermatomyositis ?"}, {"role": "assistant", "content": "Dermatomyositis is one of a group of muscle diseases known as the inflammatory myopathies, which are characterized by chronic muscle inflammation accompanied by muscle weakness. Dermatomyositis cardinal symptom is a skin rash that precedes, accompanies, or follows progressive muscle weakness. The rash looks patchy, with purple or red discolorations, and characteristically develops on the eyelids and on muscles used to extend or straighten joints, including knuckles, elbows, knees, and toes. Red rashes may also occur on the face, neck, shoulders, upper chest, back, and other locations, and there may be swelling in the affected areas. The rash sometimes occurs without obvious muscle involvement. Adults with dermatomyositis may experience weight loss, a low-grade fever, inflamed lungs, and be sensitive to light such that the rash or muscle disease gets worse. Children and adults with dermatomyositis may develop calcium deposits, which appear as hard bumps under the skin or in the muscle (called calcinosis). Calcinosis most often occurs 1-3 years after the disease begins. These deposits are seen more often in children with dermatomyositis than in adults. In some cases of dermatomyositis, distal muscles (muscles located away from the trunk of the body, such as those in the forearms and around the ankles and wrists) may be affected as the disease progresses. Dermatomyositis may be associated with collagen-vascular or autoimmune diseases, such as lupus.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is glycogen storage disease type III inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Do you have information about Statins"}, {"role": "assistant", "content": "Summary : Statins are drugs used to lower cholesterol. Your body needs some cholesterol to work properly. But if you have too much in your blood, it can stick to the walls of your arteries and narrow or even block them. If diet and exercise don't reduce your cholesterol levels, you may need to take medicine. Often, this medicine is a statin. Statins interfere with the production of cholesterol in your liver. They lower bad cholesterol levels and raise good cholesterol levels. This can slow the formation of plaques in your arteries. Statins are relatively safe for most people. But they are not recommended for pregnant patients or those with active or chronic liver disease. They can also cause serious muscle problems. Some statins also interact adversely with other drugs. You may have fewer side effects with one statin drug than another. Researchers are also studying the use of statins for other conditions. Food and Drug Administration", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Gorlin syndrome ?"}, {"role": "assistant", "content": "Gorlin syndrome, also known as nevoid basal cell carcinoma syndrome, is a condition that affects many areas of the body and increases the risk of developing various cancerous and noncancerous tumors. In people with Gorlin syndrome, the type of cancer diagnosed most often is basal cell carcinoma, which is the most common form of skin cancer. Individuals with Gorlin syndrome typically begin to develop basal cell carcinomas during adolescence or early adulthood. These cancers occur most often on the face, chest, and back. The number of basal cell carcinomas that develop during a person's lifetime varies among affected individuals. Some people with Gorlin syndrome never develop any basal cell carcinomas, while others may develop thousands of these cancers. Individuals with lighter skin are more likely to develop basal cell carcinomas than are people with darker skin. Most people with Gorlin syndrome also develop noncancerous (benign) tumors of the jaw, called keratocystic odontogenic tumors. These tumors usually first appear during adolescence, and new tumors form until about age 30. Keratocystic odontogenic tumors rarely develop later in adulthood. If untreated, these tumors may cause painful facial swelling and tooth displacement. Individuals with Gorlin syndrome have a higher risk than the general population of developing other tumors. A small proportion of affected individuals develop a brain tumor called medulloblastoma during childhood. A type of benign tumor called a fibroma can occur in the heart or in a woman's ovaries. Heart (cardiac) fibromas often do not cause any symptoms, but they may obstruct blood flow or cause irregular heartbeats (arrhythmia). Ovarian fibromas are not thought to affect a woman's ability to have children (fertility). Other features of Gorlin syndrome include small depressions (pits) in the skin of the palms of the hands and soles of the feet; an unusually large head size (macrocephaly) with a prominent forehead; and skeletal abnormalities involving the spine, ribs, or skull. These signs and symptoms are typically apparent from birth or become evident in early childhood.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Prostate Cancer ?"}, {"role": "assistant", "content": "The prostate is a male sex gland, about the size of a large walnut. It is located below the bladder and in front of the rectum. The prostate's main function is to make fluid for semen, a white substance that carries sperm. Prostate cancer occurs when a tumor forms in the tissue of the prostate. In its early stage, prostate cancer needs the male hormone testosterone to grow and survive.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Castleman disease ?"}, {"role": "assistant", "content": "Castleman disease (CD) is a rare condition that affects the lymph nodes and related tissues. There are two main forms: unicentric CD and multicentric CD. Unicentric CD is a \"localized\" condition that is generally confined to a single set of lymph nodes, while multicentric CD is a \"systemic\" disease that affects multiple sets of lymph nodes and other tissues throughout the body. The exact underlying cause of CD is currently unknown; however, it is thought to occur sporadically in people with no family history of the condition. Treatment varies based on the form of the condition, the severity of symptoms and whether or not the affected person also has an HIV and/or human herpes virus type 8 (HHV-8) infection. For more specific information about each form of CD, please visit GARD's unicentric Castleman disease and multicentric Castleman disease pages.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for La Crosse encephalitis ?"}, {"role": "assistant", "content": "How might La Crosse (LAC) encephalitis be treated? There is no specific treatment for LAC encephalitis. Severe cases are treated with supportive therapy which may include hospitalization, respiratory support, IV fluids and prevention of other infections.[9633]", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to thanatophoric dysplasia ?"}, {"role": "assistant", "content": "Mutations in the FGFR3 gene cause thanatophoric dysplasia. Both types of this condition result from mutations in the FGFR3 gene. This gene provides instructions for making a protein that is involved in the development and maintenance of bone and brain tissue. Mutations in this gene cause the FGFR3 protein to be overly active, which leads to the severe disturbances in bone growth that are characteristic of thanatophoric dysplasia. It is not known how FGFR3 mutations cause the brain and skin abnormalities associated with this disorder.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Coronary Heart Disease ?"}, {"role": "assistant", "content": "A common symptom of coronary heart disease (CHD) is angina. Angina is chest pain or discomfort that occurs if an area of your heart muscle doesn't get enough oxygen-rich blood.\n \nAngina may feel like pressure or squeezing in your chest. You also may feel it in your shoulders, arms, neck, jaw, or back. Angina pain may even feel like indigestion. The pain tends to get worse with activity and go away with rest. Emotional stress also can trigger the pain.\n \nAnother common symptom of CHD is shortness of breath. This symptom occurs if CHD causes heart failure. When you have heart failure, your heart can't pump enough blood to meet your bodys needs. Fluid builds up in your lungs, making it hard to breathe.\n \nThe severity of these symptoms varies. They may get more severe as the buildup of plaque continues to narrow the coronary arteries.\n \nSigns and Symptoms of Heart Problems Related to Coronary Heart Disease\n \nSome people who have CHD have no signs or symptomsa condition called silent CHD. The disease might not be diagnosed until a person has signs or symptoms of a heart attack, heart failure, or an arrhythmia (an irregular heartbeat).\n \nHeart Attack\n \nA heart attack occurs if the flow of oxygen-rich blood to a section of heart muscle is cut off. This can happen if an area of plaque in a coronary artery ruptures (breaks open).\n \nBlood cell fragments called platelets stick to the site of the injury and may clump together to form blood clots. If a clot becomes large enough, it can mostly or completely block blood flow through a coronary artery.\n \nIf the blockage isnt treated quickly, the portion of heart muscle fed by the artery begins to die. Healthy heart tissue is replaced with scar tissue. This heart damage may not be obvious, or it may cause severe or long-lasting problems.\n \nHeart With Muscle Damage and a Blocked Artery\n \n\n \n\n \nThe most common heart attack symptom is chest pain or discomfort. Most heart attacks involve discomfort in the center or left side of the chest that often lasts for more than a few minutes or goes away and comes back.\n \nThe discomfort can feel like uncomfortable pressure, squeezing, fullness, or pain. The feeling can be mild or severe. Heart attack pain sometimes feels like indigestion or heartburn.\n \nThe symptoms of angina can be similar to the symptoms of a heart attack. Angina pain usually lasts for only a few minutes and goes away with rest.\n \nChest pain or discomfort that doesnt go away or changes from its usual pattern (for example, occurs more often or while youre resting) might be a sign of a heart attack. If you dont know whether your chest pain is angina or a heart attack, call 911.\n \nAll chest pain should be checked by a doctor.\n \nOther common signs and symptoms of a heart attack include:\n \nUpper body discomfort in one or both arms, the back, neck, jaw, or upper part of the stomach\n \nShortness of breath, which may occur with or before chest discomfort\n \nNausea (feeling sick to your stomach), vomiting, light-headedness or fainting, or breaking out in a cold sweat\n \nSleep problems, fatigue (tiredness), or lack of energy\n \nFor more information, go to the Health Topics Heart Attack article.\n \nHeart Failure\n \nHeart failure is a condition in which your heart can't pump enough blood to meet your bodys needs. Heart failure doesn't mean that your heart has stopped or is about to stop working.\n \nThe most common signs and symptoms of heart failure are shortness of breath or trouble breathing; fatigue; and swelling in the ankles, feet, legs, stomach, and veins in the neck.\n \nAll of these symptoms are the result of fluid buildup in your body. When symptoms start, you may feel tired and short of breath after routine physical effort, like climbing stairs.\n \nFor more information, go to the Health Topics Heart Failure article.\n \nArrhythmia\n \nAn arrhythmia is a problem with the rate or rhythm of the heartbeat. When you have an arrhythmia, you may notice that your heart is skipping beats or beating too fast.\n \nSome people describe arrhythmias as a fluttering feeling in the chest. These feelings are called palpitations (pal-pih-TA-shuns).\n \nSome arrhythmias can cause your heart to suddenly stop beating. This condition is called sudden cardiac arrest (SCA). SCA usually causes death if it's not treated within minutes.\n \nFor more information, go to the Health Topics Arrhythmia article.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Andermann syndrome ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of Andermann syndrome: - Gene Review: Gene Review: Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum - Genetic Testing Registry: Andermann syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Do you have information about Nutrition"}, {"role": "assistant", "content": "Summary : Food provides the energy and nutrients you need to be healthy. Nutrients include proteins, carbohydrates, fats, vitamins, minerals, and water. Healthy eating is not hard. The key is to - Eat a variety of foods, including vegetables, fruits, and whole-grain products - Eat lean meats, poultry, fish, beans, and low-fat dairy products - Drink lots of water - Limit salt, sugar, alcohol, saturated fat, and trans fat in your diet Saturated fats are usually fats that come from animals. Look for trans fat on the labels of processed foods, margarines, and shortenings. Centers for Disease Control and Prevention", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Diabetic Kidney Disease ?"}, {"role": "assistant", "content": "A health care provider may treat kidney failure due to diabetic kidney disease with dialysis or a kidney transplant. In some cases, people with diabetic kidney disease receive kidney and pancreas transplants.\n \nIn most cases, people with diabetic kidney disease start dialysis earlier than people with kidney failure who do not have diabetes. People with diabetic end-stage kidney disease who receive a kidney transplant have a much better survival rate than those people on dialysis, although survival rates for those on dialysis have increasingly improved over time. However, people who receive a kidney transplant and do not have diabetes have a higher survival rate than people with diabetic kidney disease who receive a transplant.5\n \nMore information about treatment options for kidney failure is provided in the NIDDK health topics:\n \n- Treatment Methods for Kidney Failure: Hemodialysis - Treatment Methods for Kidney Failure: Peritoneal Dialysis - Treatment Methods for Kidney Failure: Transplantation", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is the outlook for Migraine ?"}, {"role": "assistant", "content": "Responsive prevention and treatment of migraine is incredibly important. Evidence shows an increased sensitivity after each successive attack, eventually leading to chronic daily migraine in some individuals With proper combination of drugs for prevention and treatment of migraine attacks most individuals can overcome much of the discomfort from this debilitating disorder. Women whose migraine attacks occur in association with their menstrual cycle are likely to have fewer attacks and milder symptoms after menopause.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Dihydrolipoamide dehydrogenase deficiency ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Dihydrolipoamide dehydrogenase deficiency? The signs and symptoms of dihydrolipoamide dehydrogenase (DLD) deficiency can vary widely among affected people. Early-onset DLD deficiency typically appears in early infancy with decreased muscle tone (hypotonia), lethargy, and lactic acidosis. Lactic acidosis can cause nausea, vomiting, severe breathing problems, and an abnormal heartbeat. Symptoms typically occur in episodes that may be triggered by illness, injury, or other stresses on the body. Affected infants often do not survive their initial episode or may die within the first few years of life during a recurrent episode. Children who live beyond the first two to three years often have growth delays and neurological problems such as intellectual disability, spasticity, ataxia, and seizures. However, normal intellect has been reported in a few people with the early-onset form of DLD deficiency. Isolated liver involvement, which can range from hepatomegaly (enlarged liver) to life-threatening liver failure, can also occur in the newborn period, or as late as the 3rd decade of life. A few people with DLD deficiency have become affected later in childhood with ataxia and dystonia, with normal cognitive development. Rarely, affected people have muscle weakness (particularly during exercise) or a weakened heart muscle (cardiomyopathy). The Human Phenotype Ontology provides the following list of signs and symptoms for Dihydrolipoamide dehydrogenase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aminoaciduria 90% Cognitive impairment 50% Gait disturbance 50% Hepatomegaly 50% Microcephaly 50% Muscular hypotonia 50% Hepatic failure 7.5% Hypoglycemia 7.5% Decreased liver function 5% Elevated hepatic transaminases 5% Ataxia - Autosomal recessive inheritance - Dystonia - Encephalopathy - Feeding difficulties - Hypertrophic cardiomyopathy - Lactic acidosis - Lethargy - Metabolic acidosis - Seizures - Variable expressivity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Colorectal Cancer ?"}, {"role": "assistant", "content": "For surgery, the main side effects are short-term pain and tenderness around the area of the operation. For chemotherapy, the side effects depend on which drugs you take and what the dosages are. Most often the side effects include nausea, vomiting, and hair loss. For radiation therapy, fatigue, loss of appetite, nausea, and diarrhea may occur. There are many new drugs that have greatly reduced the degree of nausea that used to be experienced because of some of these treatments.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Familial stomach cancer ?"}, {"role": "assistant", "content": "Familial stomach cancer is a cluster of stomach cancer within a family. Most cases of stomach cancer occur sporadically in people with little to no family history of the condition; however, approximately 10% of stomach cancer is considered \"familial.\" Although the underlying cause of some familial cases is unknown, genetic changes (mutations) are identified in a subset of people affected by gastric cancer. Hereditary cancer syndromes associated with a predisposition to gastric cancer include hereditary diffuse gastric cancer, Lynch syndrome, Li-Fraumeni syndrome, familial adenomatous polyposis, and Peutz-Jeghers syndrome. In other families, the cluster of stomach cancers may be due to a combination of gene(s) and/or other shared factors such as environment and lifestyle. Depending on the estimated risk, high-risk cancer screening and/or prophylactic surgeries are typically recommended in people who have an increased risk for stomach cancer based on their personal and/or family histories.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Limb-girdle muscular dystrophy inherited ?"}, {"role": "assistant", "content": "How is limb-girdle muscular dystrophy inherited? Limb-girdle muscular dystrophy (LGMD) is most often inherited in an autosomal recessive manner; less commonly, rare sub-types may be inherited in an autosomal dominant manner. There may be difficulties diagnosing the condition accurately, and often the mode of inheritance cannot be determined. Therefore, it may be challenging to determine the exact recurrence risks for some families. Establishing the type of LGMD in an affected individual can be useful for discussing the clinical course of the disease as well as for determining who else in the family may be at risk for the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Dicarboxylic aminoaciduria ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Dicarboxylic aminoaciduria? There are no common signs or symptoms of dicarboxylic aminoaciduria. Hypoglycemia, developmental and neurological abnormalities, and obsessive compulsive tendencies were described in individual cases. Others that have been diagnosed had virtually no signs or symptoms. The Human Phenotype Ontology provides the following list of signs and symptoms for Dicarboxylic aminoaciduria. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aminoaciduria - Autosomal recessive inheritance - Fasting hypoglycemia - Intellectual disability - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Prevent diabetes problems: Keep your heart and blood vessels healthy ?"}, {"role": "assistant", "content": "Narrowed blood vessels leave a smaller opening for blood to flow through. Having narrowed blood vessels is like turning on a garden hose and holding your thumb over the opening. The smaller opening makes the water shoot out with more pressure. In the same way, narrowed blood vessels lead to high blood pressure. Other factors, such as kidney problems and being overweight, also can lead to high blood pressure.\n \nMany people with diabetes also have high blood pressure. If you have heart, eye, or kidney problems from diabetes, high blood pressure can make them worse.\n \nYou will see your blood pressure written with two numbers separated by a slash. For example, your reading might be 120/70, said as \"120 over 70.\" For most people with diabetes, the target is to keep the first number below 140 and the second number below 80, unless their doctor sets a different target.\n \nIf you have high blood pressure, ask your doctor how to lower it. Your doctor may ask you to take blood pressure medicine every day. Some types of blood pressure medicine can also help keep your kidneys healthy.\n \nYou may also be able to control your blood pressure by\n \n- eating more fruits and vegetables - eating less salt and high-sodium foods - losing weight if you need to - being physically active - not smoking - limiting alcoholic drinks", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Head Lice ?"}, {"role": "assistant", "content": "Head lice are parasitic wingless insects. They live on people's heads and feed on their blood. An adult louse is about the size of a sesame seed. The eggs, called nits, are even smaller - about the size of a knot in thread. Lice and nits are found on or near the scalp, most often at the neckline and behind the ears. Lice spread by close person-to-person contact. It is possible, but not common, to get lice by sharing personal belongings such as hats or hairbrushes. Children ages 3-11 and their families get head lice most often. Personal hygiene has nothing to do with getting head lice. Head lice do not spread disease. Symptoms are - Tickling feeling in the hair - Frequent itching - Sores from scratching - Irritability and difficulty sleeping. Head lice are most active in the dark. Treatment is recommended for people who have an active infestation of head lice. All household members and other close contacts should be checked and treated if necessary. Some experts also recommend treating anyone who shares a bed with an infested person. It is important to treat everyone at the same time. Centers for Disease Control and Prevention", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to 46,XX testicular disorder of sex development ?"}, {"role": "assistant", "content": "People normally have 46 chromosomes in each cell. Two of the 46 chromosomes, known as X and Y, are called sex chromosomes because they help determine whether a person will develop male or female sex characteristics. Females typically have two X chromosomes (46,XX), and males usually have one X chromosome and one Y chromosome (46,XY). The SRY gene, normally located on the Y chromosome, provides instructions for making the sex-determining region Y protein. The sex-determining region Y protein causes a fetus to develop as a male. In about 80 percent of individuals with 46,XX testicular disorder of sex development, the condition results from an abnormal exchange of genetic material between chromosomes (translocation). This exchange occurs as a random event during the formation of sperm cells in the affected person's father. The translocation causes the SRY gene to be misplaced, almost always onto an X chromosome. If a fetus is conceived from a sperm cell with an X chromosome bearing the SRY gene, it will develop as a male despite not having a Y chromosome. This form of the condition is called SRY-positive 46,XX testicular disorder of sex development. About 20 percent of people with 46,XX testicular disorder of sex development do not have the SRY gene. This form of the condition is called SRY-negative 46,XX testicular disorder of sex development. The cause of the disorder in these individuals is unknown. They are more likely to have ambiguous genitalia than are people with the SRY-positive form.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Cirrhosis ?"}, {"role": "assistant", "content": "Cirrhosis has various causes. Many people with cirrhosis have more than one cause of liver damage.\n \nThe list below shows common causes of cirrhosis in the United States.2 While chronic hepatitis C and alcohol-related liver disease are the most common causes of cirrhosis, the incidence of cirrhosis caused by nonalcoholic fatty liver disease is rising due to increasing rates of obesity.\n \nMost Common Causes of Cirrhosis\n \nChronic hepatitis C. Hepatitis C is due to a viral infection that causes inflammation, or swelling, and damage to the liver. The hepatitis C virus spreads through contact with infected blood, such as from a needlestick accident, injection drug use, or receiving a blood transfusion before 1992. Less commonly, hepatitis C can be spread by sexual contact with an infected person or at the time of childbirth from an infected mother to her newborn.\n \nHepatitis C often becomes chronic, with long-term persistence of the viral infection. Chronic hepatitis C causes damage to the liver that, over years or decades, can lead to cirrhosis. Advanced therapies for chronic hepatitis C now exist, and health care providers should treat people with chronic hepatitis C before they develop severe fibrosis or cirrhosis. Unfortunately, many people first realize they have chronic hepatitis C when they develop symptoms of cirrhosis. More information is provided in the NIDDK health topic, What I need to know about Hepatitis C.\n \nAlcohol-related liver disease. Alcoholism is the second most common cause of cirrhosis in the United States. Most people who consume alcohol do not suffer damage to the liver. However, heavy alcohol use over several years makes a person more likely to develop alcohol-related liver disease. The amount of alcohol it takes to damage the liver varies from person to person. Research suggests that drinking two or fewer drinks a day for women and three or fewer drinks a day for men may not injure the liver.3 Drinking more than these amounts leads to fat and inflammation in the liver, which over 10 to 12 years can lead to alcoholic cirrhosis.4\n \nNonalcoholic fatty liver disease (NAFLD) and nonalcoholic steatohepatitis (NASH). In NAFLD, fat builds up in the liver; however, the fat buildup is not due to alcohol use. When the fat accompanies inflammation and liver cell damage, the condition is called nonalcoholic steatohepatitis, or NASH, with steato meaning fat, and hepatitis meaning inflammation of the liver. The inflammation and damage can cause fibrosis, which eventually can lead to cirrhosis.\n \nExtra fat in the liver has many causes and is more common in people who\n \n- are overweight or obese. - have diabetesa condition characterized by high blood glucose, also called high blood sugar. - have high blood cholesterol and triglycerides, called hyperlipidemia. - have high blood pressure. - have metabolic syndromea group of traits and medical conditions linked to being overweight and obese that makes people more likely to develop both cardiovascular disease and type 2 diabetes. Metabolic syndrome is defined as the presence of any three of the following: large waist size, high triglycerides in the blood, abnormal levels of cholesterol in the blood, high blood pressure, and higher than normal blood glucose levels. NASH may represent the liver component of the metabolic syndrome.\n \nNASH now ranks as the third most common cause of cirrhosis in the United States. More information is provided in the NIDDK health topic, Nonalcoholic Steatohepatitis.\n \nChronic hepatitis B. Hepatitis B, like hepatitis C, is due to a viral infection that causes inflammation and damage to the liver. Chronic infection can lead to damage and inflammation, fibrosis, and cirrhosis. The hepatitis B virus spreads through contact with infected blood, such as by needlestick accident, injection drug use, or receiving a blood transfusion before the mid-1980s. Hepatitis B also spreads through sexual contact with an infected person and from an infected mother to child during childbirth.\n \nIn the United States, hepatitis B is somewhat uncommon, affecting less than 1 percent of the population, or fewer than one in 100 people.5 In many areas of the world, however, hepatitis B is common. In some parts of Africa and in most of Asia and the Pacific Islands, about 5 to 7 percent of the population has chronic hepatitis B. In some parts of Africa, more than 8 percent of the population has chronic hepatitis B.6 For these reasons, hepatitis B is likely the major cause of cirrhosis worldwide. However, in the United States, hepatitis B ranks well behind hepatitis C, alcohol-related liver disease, and NASH.\n \nTherapies for chronic hepatitis B now exist and health care providers should treat people with chronic hepatitis B before they develop severe fibrosis or cirrhosis. Unfortunately, many people first realize they have chronic hepatitis B when they develop symptoms of cirrhosis.\n \nHepatitis B is also a preventable disease. Since the 1980s, a hepatitis B vaccine has been available and should be given to newborns and children in the United States. Adults at higher risk of getting hepatitis B should also get the vaccine. More information is provided in the NIDDK health topics, What I need to know about Hepatitis B and Hepatitis B: What Asian and Pacific Islander Americans Need to Know.\n \nLess Common Causes of Cirrhosis\n \nLess common causes of cirrhosis include the following:\n \nAutoimmune hepatitis. In this form of hepatitis, the bodys immune system attacks liver cells and causes inflammation, damage, and eventually cirrhosis. Normally, the immune system protects people from infection by identifying and destroying bacteria, viruses, and other potentially harmful foreign substances. In autoimmune diseases, the bodys immune system attacks the bodys own cells and organs. Researchers believe genetics, or inherited genes, may make some people more likely to develop autoimmune diseases. At least 70 percent of those with autoimmune hepatitis are female.7 More information is provided in the NIDDK health topic, Autoimmune Hepatitis.\n \nDiseases that damage, destroy, or block the bile ducts. Several diseases can damage, destroy, or block the ducts that carry bile from the liver to the small intestine, causing bile to back up in the liver and leading to cirrhosis. In adults, the most common of these diseases is primary biliary cirrhosis, a chronic disease that causes the small bile ducts in the liver to become inflamed and damaged and ultimately disappear. Primary sclerosing cholangitis is a disease that causes irritation, scarring, and narrowing of the larger bile ducts of the liver.\n \nIn infants and children, causes of damage to or disappearance of bile ducts that can lead to cirrhosis include\n \n- Alagille syndrome, a collection of symptoms that indicates a genetic digestive disorder and leads to a loss of bile ducts in infancy. - biliary atresia, a life-threatening condition that affects newborns in which bile ducts are missing. The cause is unknown. Biliary atresia is the most common reason for liver transplantation in children.8 - cystic fibrosis, an inherited disease of the lungs, intestines, pancreas, and bile ducts in which the body does not produce enough fluid and mucus becomes thick and blocks off small bile ducts. This blockage of the bile ducts can lead to cirrhosis.\n \nLong-term blockage of the bile ducts by gallstones can cause cirrhosis. Cirrhosis may also develop if the bile ducts are mistakenly tied off or injured during surgery on the gallbladder or liver.\n \nMore information is provided in the NIDDK health topics:\n \n- Primary Biliary Cirrhosis - Primary Sclerosing Cholangitis - Alagille Syndrome - Biliary Atresia - Gallstones\n \nInherited diseases that affect the liver. Inherited diseases that interfere with how the liver produces, processes, and stores enzymes, proteins, metals, and other substances can cause cirrhosis. These diseases include alpha-1 antitrypsin deficiency, hemochromatosis, Wilson disease, galactosemia, and glycogen storage diseases. More information is provided in the NIDDK health topics:\n \n- Hemochromatosis - Wilson Disease\n \nRare viral infections of the liver. Hepatitis D, or hepatitis delta, and hepatitis E are two rare viral infections of the liver. Hepatitis D infection occurs only in people who have hepatitis B. People infected with chronic hepatitis B and chronic hepatitis D are more likely to develop cirrhosis than people infected with chronic hepatitis B alone.9\n \nHepatitis E is a virus found in domestic and wild animals, particularly pigs, and can cause hepatitis in humans. People with weakened immune systems, including people who are liver or kidney transplant recipients or who have acquired immune deficiency syndrome (AIDS), can develop chronic hepatitis E. Chronic hepatitis E can cause scarring of the liver and cirrhosis. Current treatments for chronic hepatitis D and E are experimental and only partially effective.\n \nOther causes. Other causes of cirrhosis may include\n \n- reactions to medications taken over a period of time. - prolonged exposure to toxic chemicals. - parasitic infections. - chronic heart failure with liver congestion, a condition in which blood flow out of the liver is slowed. Liver congestion can also occur after surgery to correct a congenital heart problema heart problem that is present at birth.\n \nTrauma to the liver or other acute, or short term, causes of damage do not cause cirrhosis. Usually, years of chronic injury are required to cause cirrhosis.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Glanzmann thrombasthenia ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Glanzmann thrombasthenia? The Human Phenotype Ontology provides the following list of signs and symptoms for Glanzmann thrombasthenia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Bruising susceptibility - Decreased platelet glycoprotein IIb-IIIa - Epistaxis - Gastrointestinal hemorrhage - Gingival bleeding - Impaired platelet aggregation - Intracranial hemorrhage - Menorrhagia - Prolonged bleeding time - Purpura - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Glucose-6-phosphate dehydrogenase deficiency ?"}, {"role": "assistant", "content": "What are the signs and symptoms of glucose-6-phosphate dehydrogenase (G6PD) deficiency? People with G6PD deficiency do not have signs of the disease unless their red blood cells are exposed to certain chemicals in food or medicine, certain bacterial or viral infections, or to stress. Many people with this condition never experience symptoms. The most common medical problem associated with G6PD deficiency is hemolytic anemia, which occurs when red blood cells are destroyed faster than the body can replace them. This type of anemia leads to paleness, yellowing of the skin and whites of the eyes (jaundice), dark urine, fatigue, shortness of breath, enlarged spleen, and a rapid heart rate. Researchers believe that carriers of a mutation in the G6PD gene may be partially protected against malaria, an infectious disease carried by a certain type of mosquito. A reduction in the amount of functional glucose-6-dehydrogenase appears to make it more difficult for this parasite to invade red blood cells. G6PD deficiency occurs more frequently in areas of the world where malaria is common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by GRN-related frontotemporal dementia ?"}, {"role": "assistant", "content": "GRN-related frontotemporal dementia affects an estimated 3 to 15 per 100,000 people aged 45 to 64. This condition accounts for 5 to 10 percent of all cases of frontotemporal dementia.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Pierson syndrome ?"}, {"role": "assistant", "content": "Is genetic testing available for Pierson syndrome? Yes. The Genetic Testing Registry (GTR) provides information about the genetic tests available for Pierson syndrome. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. According to the GTR, genetic testing for Pierson syndrome may be available for diagnosis in a person suspected of having the condition, carrier testing, and prenatal testing.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is the outlook for Myotonia ?"}, {"role": "assistant", "content": "Myotonia is a chronic disorder. Symptoms may improve later in life.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What to do for Viral Gastroenteritis ?"}, {"role": "assistant", "content": "The following steps may help relieve the symptoms of viral gastroenteritis in adults:\n \n- drinking plenty of liquids such as fruit juices, sports drinks, caffeine-free soft drinks, and broths to replace fluids and electrolytes - sipping small amounts of clear liquids or sucking on ice chips if vomiting is still a problem - gradually reintroducing food, starting with bland, easy-to-digest foods such as rice, potatoes, toast or bread, cereal, lean meat, applesauce, and bananas - avoiding fatty foods, sugary foods, dairy products, caffeine, and alcohol until recovery is complete - getting plenty of rest\n \nChildren present special concerns. Because of their smaller body size, infants and children are likely to become dehydrated more quickly from diarrhea and vomiting. The following steps may help relieve symptoms of viral gastroenteritis and prevent dehydration in children:\n \n- giving oral rehydration solutions such as Pedialyte, Naturalyte, Infalyte, and CeraLyte - giving food as soon as the child is hungry - giving infants breast milk or full strength formula, as usual, along with oral rehydration solutions\n \nOlder adults and adults with weak immune systems should also drink oral rehydration solutions to prevent dehydration.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Kyrle disease ?"}, {"role": "assistant", "content": "Kyrle disease is a skin disease characterized by the formation of large papules and is often associated with underlying hepatic, renal or diabetic disorders. It can affect both men and women throughout life, although the average age of onset is 30 years. Lesions typically begin as small papules with silvery scales that eventually grow and form red-brown nodules with a central keratin (horny) plug. The lesions occur mostly on the legs but also develop on the arms and the head and neck region. They are not typically painful may cause intense itching (pruritus). The cause of the disease is unknown; some cases appear to be idiopathic (no known cause) or inherited. The aim of treatment is to treat the underlying disease if one is associated. Lesions may self-heal without any treatment, but new lesions usually develop. Treatments that have been used to treat and reduce lesions include isotretinoin, high dose vitamin A, and tretinoin cream; emollients (skin softening agents) and oral antihistamines may be useful in relieving pruritus.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is maternally inherited diabetes and deafness inherited ?"}, {"role": "assistant", "content": "MIDD is inherited in a mitochondrial pattern, which is also known as maternal inheritance. This pattern of inheritance applies to genes contained in mtDNA. Because egg cells, but not sperm cells, contribute mitochondria to the developing embryo, children can only inherit disorders resulting from mtDNA mutations from their mother. These disorders can appear in every generation of a family and can affect both males and females, but fathers do not pass traits associated with changes in mtDNA to their children. Most of the body's cells contain thousands of mitochondria, each with one or more copies of mtDNA. These cells can have a mix of mitochondria containing mutated and unmutated DNA (heteroplasmy). The severity of MIDD is thought to be associated with the percentage of mitochondria with the mtDNA mutation.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Nutrition for Advanced Chronic Kidney Disease in Adults ?"}, {"role": "assistant", "content": "CKD usually takes a long time to develop and does not go away. In CKD, the kidneys continue to workjust not as well as they should. Wastes may build up so gradually that the body becomes used to having those wastes in the blood. Salts containing phosphorus and potassium may rise to unsafe levels, causing heart and bone problems. Anemialow red blood cell countcan result from CKD because the kidneys stop making enough erythropoietin, a hormone that causes bone marrow to make red blood cells. After months or years, CKD may progress to permanent kidney failure, which requires a person to have a kidney transplant or regular blood filtering treatments called dialysis.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) achondrogenesis ?"}, {"role": "assistant", "content": "Achondrogenesis is a group of severe disorders that affect cartilage and bone development. These conditions are characterized by a small body, short limbs, and other skeletal abnormalities. As a result of serious health problems, infants with achondrogenesis usually die before birth, are stillborn, or die soon after birth from respiratory failure. However, some infants have lived for a short time with intensive medical support. Researchers have described at least three forms of achondrogenesis, designated as type 1A, type 1B, and type 2. The types are distinguished by their signs and symptoms, inheritance pattern, and genetic cause. However, types 1A and 1B are often hard to tell apart without genetic testing. Achondrogenesis type 1A, which is also called the Houston-Harris type, is the least well understood of the three forms. Affected infants have extremely short limbs, a narrow chest, short ribs that fracture easily, and a lack of normal bone formation (ossification) in the skull, spine, and pelvis. Achondrogenesis type 1B, also known as the Parenti-Fraccaro type, is characterized by extremely short limbs, a narrow chest, and a prominent, rounded abdomen. The fingers and toes are short and the feet may turn inward and upward (clubfeet). Affected infants frequently have a soft out-pouching around the belly-button (an umbilical hernia) or near the groin (an inguinal hernia). Infants with achondrogenesis type 2, which is sometimes called the Langer-Saldino type, have short arms and legs, a narrow chest with short ribs, and underdeveloped lungs. This condition is also associated with a lack of ossification in the spine and pelvis. Distinctive facial features include a prominent forehead, a small chin, and, in some cases, an opening in the roof of the mouth (a cleft palate). The abdomen is enlarged, and affected infants often have a condition called hydrops fetalis, in which excess fluid builds up in the body before birth.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by eosinophil peroxidase deficiency ?"}, {"role": "assistant", "content": "Approximately 100 individuals with eosinophil peroxidase deficiency have been described in the scientific literature. Based on blood test data, varying estimates of the prevalence of the condition have been reported in specific populations. Eosinophil peroxidase deficiency is estimated to occur in 8.6 in 1,000 Yemenite Jews, in 3 in 1,000 North-African Jews, and in 1 in 1,000 Iraqi Jews. In northeastern Italy, the condition occurs in approximately 1 in 14,000 individuals; in Japan it occurs in 1 in 36,000 people; and in Luxembourg, eosinophil peroxidase deficiency is thought to occur in 1 in 100,000 people.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) benign familial neonatal seizures ?"}, {"role": "assistant", "content": "Benign familial neonatal seizures (BFNS) is a condition characterized by recurrent seizures in newborn babies. The seizures begin around day 3 of life and usually go away within 1 to 4 months. The seizures can involve only one side of the brain (focal seizures) or both sides (generalized seizures). Many infants with this condition have generalized tonic-clonic seizures (also known as grand mal seizures). This type of seizure involves both sides of the brain and affects the entire body, causing muscle rigidity, convulsions, and loss of consciousness. A test called an electroencephalogram (EEG) is used to measure the electrical activity of the brain. Abnormalities on an EEG test, measured during no seizure activity, can indicate a risk for seizures. However, infants with BFNS usually have normal EEG readings. In some affected individuals, the EEG shows a specific abnormality called the theta pointu alternant pattern. By age 2, most affected individuals who had EEG abnormalities have a normal EEG reading. Typically, seizures are the only symptom of BFNS, and most people with this condition develop normally. However, some affected individuals develop intellectual disability that becomes noticeable in early childhood. A small percentage of people with BFNS also have a condition called myokymia, which is an involuntary rippling movement of the muscles. In addition, in about 15 percent of people with BFNS, recurrent seizures (epilepsy) will come back later in life after the seizures associated with BFNS have gone away. The age that epilepsy begins is variable.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Shaken Baby Syndrome ?"}, {"role": "assistant", "content": "Shaken baby syndrome is a type of inflicted traumatic brain injury that happens when a baby is violently shaken. A baby has weak neck muscles and a large, heavy head. Shaking makes the fragile brain bounce back and forth inside the skull and causes bruising, swelling, and bleeding, which can lead to permanent, severe brain damage or death. The characteristic injuries of shaken baby syndrome are subdural hemorrhages (bleeding in the brain), retinal hemorrhages (bleeding in the retina), damage to the spinal cord and neck, and fractures of the ribs and bones. These injuries may not be immediately noticeable. Symptoms of shaken baby syndrome include extreme irritability, lethargy, poor feeding, breathing problems, convulsions, vomiting, and pale or bluish skin. Shaken baby injuries usually occur in children younger than 2 years old, but may be seen in children up to the age of 5.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Dry Mouth ?"}, {"role": "assistant", "content": "Dry mouth can be uncomfortable. Some people notice a sticky, dry feeling in the mouth. Others notice a burning feeling or difficulty while eating. The throat may feel dry, too, and swallowing without extra fluids can often be difficult. Also, people with dry mouth may develop mouth sores, cracked lips, and a dry, rough tongue.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is the outlook for Childhood Hodgkin Lymphoma ?"}, {"role": "assistant", "content": "Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - The stage of the cancer. - The size of the tumor. - Whether there are B symptoms at diagnosis. - The type of Hodgkin lymphoma. - Certain features of the cancer cells. - Whether there are too many white blood cells or too few red blood cells at the time of diagnosis. - How well the tumor responds to initial treatment with chemotherapy. - Whether the cancer is newly diagnosed or has recurred (come back). The treatment options also depend on: - The child's age and gender. - The risk of long-term side effects. Most children and adolescents with newly diagnosed Hodgkin lymphoma can be cured.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Enthesitis-related juvenile idiopathic arthritis ?"}, {"role": "assistant", "content": "Enthesitis-related juvenile idiopathic arthritis is a subtype of juvenile idiopathic arthritis that is characterized by both arthritis and inflammation of an enthesitis site (the point at which a ligament, tendon, or joint capsule attaches to the bone). Signs and symptoms generally develop in late childhood or early adolescence and include pain, tenderness, and swelling in joints and at the enthesis. The knee and the back of the ankle (at the Achilles tendon) are the most commonly affected parts of the body. The underlying cause of enthesitis-related juvenile idiopathic arthritis is currently unknown (idiopathic). It is very rare for more than one member of a family to have juvenile arthritis; however, research suggests that having a family member with juvenile arthritis or any autoimmune disease may increase the risk of having juvenile arthritis, in general. Treatment usually involves different types of medications to help manage symptoms and/or physical therapy.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Do you have information about Food Safety"}, {"role": "assistant", "content": "Summary : Safe steps in food handling, cooking, and storage can prevent foodborne illness. There are four basic steps to food safety at home: - Clean - always wash your fruits and vegetables, hands, counters, and cooking utensils. - Separate - keep raw foods to themselves. Germs can spread from one food to another. - Cook - foods need to get hot and stay hot. Heat kills germs. - Chill - put fresh food in the refrigerator right away. In the grocery store, avoid cans that are bulging or jars that have cracks or loose lids. Check packages to be sure food hasn't reached its expiration date. United States Department of Agriculture", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Alzheimer's Caregiving ?"}, {"role": "assistant", "content": "Currently, no medication can cure Alzheimers disease, but four medicines are approved to treat the symptoms of the disease. - Aricept (donezepil)for all stages of Alzheimers - Exelon (rivastigmine)for mild to moderate Alzheimers - Razadyne (galantamine)--for mild to moderate Alzheimers - Namenda (memantine)for moderate to severe Alzheimers - Namzarec (memantine and donepezil)for moderate to severe Alzheimers Aricept (donezepil)for all stages of Alzheimers Exelon (rivastigmine)for mild to moderate Alzheimers Razadyne (galantamine)--for mild to moderate Alzheimers Namenda (memantine)for moderate to severe Alzheimers Namzarec (memantine and donepezil)for moderate to severe Alzheimers These medications can help slow down memory loss and allow people with Alzheimers to be more comfortable and independent for a longer time. If appropriate, the persons doctor may prescribe a medicine to treat behavior problems such as anxiety, depression, and aggression. Medicines to treat these behavior problems should be used only after other strategies have been tried. Talk with the doctor about which medicines are safest and most effective.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Anterior segment mesenchymal dysgenesis ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Anterior segment mesenchymal dysgenesis? The Human Phenotype Ontology provides the following list of signs and symptoms for Anterior segment mesenchymal dysgenesis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Posterior polar cataract 47/47 Anterior segment dysgenesis 7/16 Autosomal dominant inheritance - Opacification of the corneal stroma - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Childhood Acute Lymphoblastic Leukemia ?"}, {"role": "assistant", "content": "Signs of childhood ALL include fever and bruising. These and other signs and symptoms may be caused by childhood ALL or by other conditions. Check with your child's doctor if your child has any of the following: - Fever. - Easy bruising or bleeding. - Petechiae (flat, pinpoint, dark-red spots under the skin caused by bleeding). - Bone or joint pain. - Painless lumps in the neck, underarm, stomach, or groin. - Pain or feeling of fullness below the ribs. - Weakness, feeling tired, or looking pale. - Loss of appetite.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Lipodermatosclerosis ?"}, {"role": "assistant", "content": "What causes lipodermatosclerosis? The exact cause of lipodermatosclerosis is unknown; however, it may be related to certain vein abnormalities and/or obesity. Lipodermatosclerosis often occurs in people with venous insufficiency. Approximately two thirds of affected people are obese.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by pontocerebellar hypoplasia ?"}, {"role": "assistant", "content": "The prevalence of pontocerebellar hypoplasia is unknown, although most forms of the disorder appear to be very rare.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Hemangioendothelioma ?"}, {"role": "assistant", "content": "How might hemangioendothelioma be treated? Treatment for hemangioendothelioma may depend on the type of hemangioendothelioma present in the affected individual and the risk of recurrence or metastases. In most reported cases, surgical excision (removal) of the mass has been the only treatment. For spindle cell hemangioma, simple excision is reportedly curative; however, new growths develop in adjacent skin and soft tissues in 60% of affected individuals. For individuals with papillary intralymphatic angioendothelioma (PILA), excision of the involved lymph nodes, as well as the mass, has been recommended. Surgical excision is reportedly also the usual treatment for individuals with retiform hemangioendothelioma (although local recurrence with this type is common), epithelioid hemangioendothelioma, and composite hemangioendothelioma (with the exception of 1 case treated with interferon). Most individuals with pseudomyogenic hemangioendothelioma have been treated with simple excision, but a few individuals have also received post-surgical radiotherapy (RT). With regard to kaposiform hemangioendothelioma, some large lesions cannot be completely removed and may cause fatal complications due to the associated KasabachMerritt syndrome. In these cases, several medical therapies have been used, including systemic corticosteroids; alfa interferon; RT; embolization; and several other therapies, both alone and in various combinations. A study by Scott et al published in 2012 in the American Journal of Clinical Oncology evaluated the effectiveness of RT as either an alternative or adjunct to surgery. The authors stated that the effectiveness of definitive RT in the treatment of hemangioendothelioma in their study implies that radiation may be an acceptable alternative when surgical resection will compromise function or cosmetic result. They concluded that with no local recurrences and minimal risk of toxicity, their long-term data suggest that RT offers a highly effective management option for this disease.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Meckel syndrome type 2 ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Meckel syndrome type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Meckel syndrome type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Dandy-Walker malformation 5% Microphthalmia 5% Anencephaly - Autosomal recessive inheritance - Bile duct proliferation - Bowing of the long bones - Cleft palate - Encephalocele - Intrauterine growth retardation - Meningocele - Polydactyly - Postaxial hand polydactyly - Renal cyst - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Costello syndrome ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of Costello syndrome: - Gene Review: Gene Review: Costello Syndrome - Genetic Testing Registry: Costello syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Do you have information about Environmental Health"}, {"role": "assistant", "content": "Summary : Our environment affects our health. If parts of the environment, like the air, water, or soil become polluted, it can lead to health problems. For example, asthma pollutants and chemicals in the air or in the home can trigger asthma attacks. Some environmental risks are a part of the natural world, like radon in the soil. Others are the result of human activities, like lead poisoning from paint, or exposure to asbestos or mercury from mining or industrial use. NIH: National Institute of Environmental Health Sciences", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "what research (or clinical trials) is being done for Childhood Rhabdomyosarcoma ?"}, {"role": "assistant", "content": "New types of treatment are being tested in clinical trials.\n This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. High-dose chemotherapy with stem cell transplant High-dose chemotherapy with stem cell transplant is a way of giving high doses of chemotherapy and replacing blood -forming cells destroyed by the cancer treatment. Stem cells (immature blood cells) are removed from the blood or bone marrow of the patient or a donor and are frozen and stored. After the chemotherapy is completed, the stored stem cells are thawed and given back to the patient through an infusion. These reinfused stem cells grow into (and restore) the body's blood cells. Immunotherapy Immunotherapy is a treatment that uses the patients immune system to fight cancer. Substances made by the body or made in a laboratory are used to boost, direct, or restore the bodys natural defenses against cancer. This type of cancer treatment is also called biologic therapy or biotherapy. There are different types of immunotherapy: - Immune checkpoint inhibitor therapy uses the body's immune system to kill cancer cells. Two types of immune checkpoint inhibitors are being studied in the treatment of childhood rhabdomyosarcoma that has come back after treatment: - CTLA-4 is a protein on the surface of T cells that helps keep the bodys immune responses in check. When CTLA-4 attaches to another protein called B7 on a cancer cell, it stops the T cell from killing the cancer cell. CTLA-4 inhibitors attach to CTLA-4 and allow the T cells to kill cancer cells. Ipilimumab is a type of CTLA-4 inhibitor. - PD-1 is a protein on the surface of T cells that helps keep the bodys immune responses in check. When PD-1 attaches to another protein called PDL-1 on a cancer cell, it stops the T cell from killing the cancer cell. PD-1 inhibitors attach to PDL-1 and allow the T cells to kill cancer cells. Nivolumab and pembrolizumab are PD-1 inhibitors. - Vaccine therapy is a type of immunotherapy being studied to treat metastatic rhabdomyosarcoma. Targeted therapy Targeted therapy is a type of treatment that uses drugs or other substances to attack cancer cells. Targeted therapies usually cause less harm to normal cells than chemotherapy or radiation do. There are different types of targeted therapy: - mTOR inhibitors stop the protein that helps cells divide and survive. Sirolimus is a type of mTOR inhibitor therapy being studied in the treatment of recurrent rhabdomyosarcoma. - Tyrosine kinase inhibitors are small-molecule drugs that go through the cell membrane and work inside cancer cells to block signals that cancer cells need to grow and divide. MK-1775 is a tyrosine kinase inhibitor being studied in the treatment of recurrent rhabdomyosarcoma. - Antibody-drug conjugates are made up of a monoclonal antibody attached to a drug. The monoclonal antibody binds to specific proteins or receptors found on certain cells, including cancer cells. The drug enters these cells and kills them without harming other cells. Lorvotuzumab mertansine is an antibody-drug conjugate being studied in the treatment of recurrent rhabdomyosarcoma.\n \n \n Patients may want to think about taking part in a clinical trial.\n For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward.\n \n \n Patients can enter clinical trials before, during, or after starting their cancer treatment.\n Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Epidermolysis bullosa acquisita inherited ?"}, {"role": "assistant", "content": "Is epidermolysis bullosa acquisita inherited? Unlike the genetic forms of epidermolysis bullosa, epidermolysis bullosa acquisita (EBA) is considered an acquired, sporadic disease. This means that it generally occurs in people with no history of the condition in their families. There have been a couple of reports of families with more than one affected person, suggesting a genetic component may be involved. This could mean that EBA may develop in a person who is \"genetically susceptible.\" However, the condition is not thought to be due to any specific gene(s).", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) GM1 gangliosidosis type 3 ?"}, {"role": "assistant", "content": "GM1 gangliosidosis is an inherited lysosomal storage disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. The condition may be classified into three major types based on the general age that signs and symptoms first appear: classic infantile (type 1); juvenile (type 2); and adult onset or chronic (type 3). Although the types differ in severity, their features may overlap significantly. GM1 gangliosidosis is caused by mutations in the GLB1 gene and is inherited in an autosomal recessive manner. Treatment is currently symptomatic and supportive.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Knee Replacement ?"}, {"role": "assistant", "content": "Knee replacement is surgery for people with severe knee damage. Knee replacement can relieve pain and allow you to be more active. Your doctor may recommend it if you have knee pain and medicine and other treatments are not helping you anymore. When you have a total knee replacement, the surgeon removes damaged cartilage and bone from the surface of your knee joint and replaces them with a man-made surface of metal and plastic. In a partial knee replacement, the surgeon only replaces one part of your knee joint. The surgery can cause scarring, blood clots, and, rarely, infections. After a knee replacement, you will no longer be able to do certain activities, such as jogging and high-impact sports.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Townes-Brocks Syndrome ?"}, {"role": "assistant", "content": "Townes-Brocks syndrome is a genetic condition that affects several parts of the body. The most common features of this condition are an obstruction of the anal opening (imperforate anus), abnormally shaped ears, and hand malformations that most often affect the thumb. Most people with this condition have at least two of these three major features. Other possible signs and symptoms of Townes-Brocks syndrome include kidney abnormalities, mild to profound hearing loss, heart defects, and genital malformations. These features vary among affected individuals, even within the same family. Intellectual disability or learning problems have also been reported in about 10 percent of people with Townes-Brocks syndrome.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Rh deficiency syndrome ?"}, {"role": "assistant", "content": "The Rh deficiency syndrome, also known as Rh-null syndrome, is a blood disorder where people have red blood cells (RBCs) lacking all Rh antigens. The Rh antigens maintain the integrity of the RBC membrane and therefore, RBCs which lack Rh antigens have an abnormal shape. There are two types of Rh deficiency syndrome: The regulator type is associated with many different changes (mutations) in the RHAG gene . The amorph type is caused by inactive copies of a gene (silent alleles) at the RH locus. As a result, the RBCs do not express any of the Rh antigens. The absence of the Rh complex alters the RBC shape, increases its tendency to break down (osmotic fragility), and shortens its lifespan, resulting in a hemolytic anemia that is usually mild. These patients are at risk of having adverse transfusion reactions because they may produce antibodies against several of the Rh antigens and can only receive blood from people who have the same condition. Rh deficiency syndrome is inherited in an autosomal recessive manner. Management is individualized according to the severity of hemolytic anemia.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is the outlook for AIDS-Related Lymphoma ?"}, {"role": "assistant", "content": "Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - The stage of the cancer. - The age of the patient. - The number of CD4 lymphocytes (a type of white blood cell) in the blood. - The number of places in the body lymphoma is found outside the lymph system. - Whether the patient has a history of intravenous (IV) drug use. - The patient's ability to carry out regular daily activities.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Leiomyosarcoma ?"}, {"role": "assistant", "content": "Leiomyosarcoma is a rare cancerous tumor that consists of smooth (involuntary) muscle cells. Leiomyosarcoma is a type of sarcoma. It spreads through the blood stream and can affect the lungs, liver, blood vessels, or any other soft tissue in the body. The exact cause of leiomyosarcoma is not known, although genetic and environmental factors appear to be involved. It is most often found in the uterus or abdomen.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by adermatoglyphia ?"}, {"role": "assistant", "content": "Adermatoglyphia appears to be a rare condition. Only a few affected families have been identified worldwide.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) myotonia congenita ?"}, {"role": "assistant", "content": "Myotonia congenita is a disorder that affects muscles used for movement (skeletal muscles). Beginning in childhood, people with this condition experience bouts of sustained muscle tensing (myotonia) that prevent muscles from relaxing normally. Although myotonia can affect any skeletal muscles, including muscles of the face and tongue, it occurs most often in the legs. Myotonia causes muscle stiffness that can interfere with movement. In some people the stiffness is very mild, while in other cases it may be severe enough to interfere with walking, running, and other activities of daily life. These muscle problems are particularly noticeable during movement following a period of rest. Many affected individuals find that repeated movements can temporarily alleviate their muscle stiffness, a phenomenon known as the warm-up effect. The two major types of myotonia congenita are known as Thomsen disease and Becker disease. These conditions are distinguished by the severity of their symptoms and their patterns of inheritance. Becker disease usually appears later in childhood than Thomsen disease and causes more severe muscle stiffness, particularly in males. People with Becker disease often experience temporary attacks of muscle weakness, particularly in the arms and hands, brought on by movement after periods of rest. They may also develop mild, permanent muscle weakness over time. This muscle weakness is not seen in people with Thomsen disease.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Who is at risk for Aplastic Anemia? ?"}, {"role": "assistant", "content": "Aplastic anemia is a rare but serious blood disorder. People of all ages can develop aplastic anemia. However, it's most common in adolescents, young adults, and the elderly. Men and women are equally likely to have it.\n \nThe disorder is two to three times more common in Asian countries.\n \nYour risk of aplastic anemia is higher if you:\n \nHave been exposed to toxins\n \nHave taken certain medicines or had radiation or chemotherapy (treatments for cancer)\n \nHave certain infectious diseases, autoimmune disorders, or inherited conditions\n \nFor more information, go to \"What Causes Aplastic Anemia?\"", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Congenital anosmia ?"}, {"role": "assistant", "content": "What causes congenital anosmia? Congenital anosmia may occur as an isolated abnormality or be associated with specific genetic disorders (such as Kallmann syndrome and congenital insensitivity to pain). Most cases of isolated congenital anosmia (not associated with additional symptoms) occur sporadically in people with no family history of the condition. In these people, the exact underlying cause of the condition is unknown. Most likely, there is more than one cause. Scientists suspect that the condition occurs due to abnormal development of the olfactory system (the sensory system used for sense of smell) prior to birth. This may include abnormalities of the nasal cavity, disruptions in the pathway that carries information from the nose to the brain, and/or malformations of the portion of the brain that processes sense of smell. Rarely, isolated congenital anosmia can affect more than one family member. This suggests that there may be a genetic component in some cases. One study found that some people affected by isolated congenital anosmia have changes (mutations) in PROKR2 or PROK2, two genes that have previously been reported in people with Kallmann syndrome (an inherited condition associated with congenital anosmia and other symptoms). To date, no other disease-causing genes have been identified.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Aicardi-Goutieres Syndrome Disorder ?"}, {"role": "assistant", "content": "Aicardi-Goutieres syndrome (AGS) is an inherited encephalopathy that affects newborn infants and usually results in severe mental and physical handicap. There are two forms of the syndrome: an early-onset form that is severe, and a late-onset form that has less impact upon neurological function. The early-onset form affects about 20 percent of all babies who have AGS. These infants are born with neurological and liver abnormalities, such as enlargement of the liver and spleen and elevated liver enzymes. Their jittery behavior and poor feeding ability mimic congenital viral infection.\n \nBabies with later-onset AGS begin having symptoms after the first weeks or months of normal development, which appear as a progressive decline in head growth, weak or stiffened muscles (spasticity), and cognitive and developmental delays that range from moderate to severe. Symptoms last for several months, and include irritability, inconsolable crying, intermittent fever, seizures, and loss of developmental skills. Children may also have puffy swelling on the fingers, toes, and ears that resemble chilblains. A number of children have a noticeable startle reaction to sudden noise. For babies with the later-onset form, as symptoms lessen, there is no further worsening of the disease.\n \nAGS is difficult to diagnose since many of the symptoms are similar to those of other disorders. Diagnosis is made based on the clinical symptoms of the disease, as well as characteristic brain abnormalities that can be seen in an MRI brain scan. Cerebrospinal fluid (CSF), taken using a \"spinal tap,\" can also be tested for increased levels of a specific immune system cell (a lymphocyte), which indicates a condition known as chronic lymphocytosis. These cells are normally only elevated during infection, so that lymphocytosis without evidence of infection can be used as an indicator of AGS. CSF may also be tested for elevated levels of a substance known as interferon-gamma, which can also support a diagnosis of AGS.\n \nThe mutations of four different genes are associated with AGS:\n \n- Aicardi-Goutieres syndrome-1 (AGS1) and AGS5 (an autosomal dominant form) are caused by a mutation in the TREX1 gene, - AGS2 is caused by a mutation in the RNASEH2B gene, - AGS3 is caused by a mutation in the RNASEH2C gene, - AGS4 is caused by a mutation in the RNASEH2A gene.\n \nMost cases of AGS are inherited in an autosomal recessive manner, which means that both parents of a child with AGS must carry a single copy of the defective gene responsible for the disease. Parents do not have any symptoms of disease, but with every child they have together, there is a one in four chance that the baby will receive two copies of the defective gene and inherit AGS.\n \nNOTE: AGS is distinct from the similarly named Aicardi syndrome (characterized by absence of a brain structure (corpus callosum), and spinal, skeletal, and eye abnormalities).", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the complications of Knee Replacement ?"}, {"role": "assistant", "content": "While new technology and advances in surgical techniques have greatly reduced the risks involved with knee replacements, there are still some risks you should be aware of. Two of the most common possible problems are blood clots and infection. Preventing Blood Clots Blood clots can occur in the veins of your legs after knee replacement surgery. To reduce the risk of clots, your doctor may have you elevate your leg periodically and prescribe special exercises, support hose, or blood thinners. Preventing Infections Infection can occur when bacteria enter the bloodstream from skin or urinary tract infections. To reduce the risk of infection, your doctors may prescribe antibiotics for you to take prior to your surgery and for a short time afterward. Other Complications Other complications, such as new or ongoing pain, stiffness, fracture, bleeding, or injury to the blood vessels can occur. Serious medical complications, such as heart attack or stroke, are very rare. Warning Signs To Watch For To minimize the risk of complications, it is important to recognize signs of potential problems early and contact your doctor. For example, tenderness, redness, and swelling of your calf or swelling of your thigh, ankle, calf, or foot could be warning signs of a possible blood clot. Warning signs of infection include fever or chills, tenderness and swelling of the wound, and drainage from the wound. You should call your doctor if you experience any of these symptoms. It is important to get instructions from your doctor before leaving the hospital and follow them carefully once you get home. Doing so will give you the greatest chance of a successful surgery.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Rheumatoid Arthritis ?"}, {"role": "assistant", "content": "Rheumatoid arthritis can be difficult to diagnose in its early stages because the full range of symptoms develops over time, and only a few symptoms may be present in the early stages. As part of the diagnosis, your doctor will look for symptoms such as swelling, warmth, pain, and limitations in joint motion throughout your body. Your doctor may ask you questions about the intensity of your pain symptoms, how often they occur, and what makes the pain better or worse.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Diverticular Disease ?"}, {"role": "assistant", "content": "Fiber is a substance in foods that comes from plants. Fiber helps soften stool so it moves smoothly through the colon and is easier to pass. Soluble fiber dissolves in water and is found in beans, fruit, and oat products. Insoluble fiber does not dissolve in water and is found in whole-grain products and vegetables. Both kinds of fiber help prevent constipation.\n \nConstipation is a condition in which an adult has fewer than three bowel movements a week or has bowel movements with stools that are hard, dry, and small, making them painful or difficult to pass.\n \nHigh-fiber foods also have many benefits in preventing and controlling chronic diseases, such as cardiovascular disease, obesity, diabetes, and cancer.2", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Acute Disseminated Encephalomyelitis ?"}, {"role": "assistant", "content": "Treatment for ADEM is targeted at suppressing inflammation in the brain using anti-inflammatory drugs. Most individuals respond to several days of intravenous corticosteroids such as methylprednisolone, followed by oral corticosteroid treatment. When corticosteroids fail to work, plasmapheresis or intravenous immunoglobulin therapy are possible secondary treatment options that are reported to help in some severe cases. Additional treatment is symptomatic and supportive.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Vesicoureteral Reflux ?"}, {"role": "assistant", "content": "Vesicoureteral reflux is the abnormal flow of urine from the bladder to the upper urinary tract. The urinary tract is the bodys drainage system for removing wastes and extra water. The urinary tract includes two kidneys, two ureters, a bladder, and a urethra. Blood flows through the kidneys, and the kidneys filter out wastes and extra water, making urine. The urine travels down two narrow tubes called the ureters. The urine is then stored in a balloonlike organ called the bladder. When the bladder empties, urine flows out of the body through a tube called the urethra at the bottom of the bladder.\n \nIn VUR, urine may flow backrefluxinto one or both ureters and, in some cases, to one or both kidneys. VUR that affects only one ureter and kidney is called unilateral reflux, and VUR that affects both ureters and kidneys is called bilateral reflux.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Osteopetrosis autosomal recessive 7 ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Osteopetrosis autosomal recessive 7? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteopetrosis autosomal recessive 7. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Decreased antibody level in blood 3/4 Abnormal trabecular bone morphology - Anemia - Autosomal recessive inheritance - Nystagmus - Optic nerve compression - Osteopetrosis - Progressive visual loss - Recurrent pneumonia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Reye's Syndrome ?"}, {"role": "assistant", "content": "There is no cure for RS. Successful management, which depends on early diagnosis, is primarily aimed at protecting the brain against irreversible damage by reducing brain swelling, reversing the metabolic injury, preventing complications in the lungs, and anticipating cardiac arrest. It has been learned that several inborn errors of metabolism mimic RS in that the first manifestation of these errors may be an encephalopathy with liver dysfunction. These disorders must be considered in all suspected cases of RS. Some evidence suggests that treatment in the end stages of RS with hypertonic IV glucose solutions may prevent progression of the syndrome.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is the outlook for Coma ?"}, {"role": "assistant", "content": "The outcome for coma and persistent vegetative state depends on the cause, severity, and site of neurological damage. Individuals may emerge from coma with a combination of physical, intellectual, and psychological difficulties that need special attention. Recovery usually occurs gradually, with some acquiring more and more ability to respond. Some individuals never progress beyond very basic responses, but many recover full awareness. Individuals recovering from coma require close medical supervision. A coma rarely lasts more than 2 to 4 weeks. Some patients may regain a degree of awareness after persistent vegetative state. Others may remain in that state for years or even decades. The most common cause of death for someone in a persistent vegetative state is infection, such as pneumonia.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Tracheobronchopathia osteoplastica inherited ?"}, {"role": "assistant", "content": "Is tracheobronchopathia osteoplastica inherited? There is no known genetic susceptibility to the development of TO, and it typically occurs in people with no known history of the condition in their family. Familial occurrence has been reported only once, in a woman and her daughter.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Aicardi-Goutieres syndrome ?"}, {"role": "assistant", "content": "Aicardi-Goutieres syndrome is a disorder that mainly affects the brain, the immune system, and the skin. Most newborns with Aicardi-Goutieres syndrome do not show any signs or symptoms of the disorder at birth. However, about 20 percent are born with a combination of features that include an enlarged liver and spleen (hepatosplenomegaly), elevated blood levels of liver enzymes, a decrease in blood platelets (thrombocytopenia), and abnormal neurological responses. While this combination of signs and symptoms is typically associated with the immune system's response to congenital viral infection, no actual infection is found in these infants. For this reason, Aicardi-Goutieres syndrome is sometimes referred to as a \"mimic of congenital infection.\" Within the first year of life most individuals with Aicardi-Goutieres syndrome experience an episode of severe brain dysfunction (encephalopathy), typically lasting for several months. During this phase of the disorder, affected babies are usually extremely irritable and do not feed well. They may develop intermittent fevers in the absence of infection (sterile pyrexias) and may have seizures. They stop developing new skills and begin losing skills they had already acquired (developmental regression). Growth of the brain and skull slows down, resulting in an abnormally small head size (microcephaly). In this phase of the disorder, white blood cells and molecules associated with inflammation can be detected in the cerebrospinal fluid, which is the fluid that surrounds the brain and spinal cord (central nervous system). These abnormal findings are consistent with inflammation and tissue damage in the central nervous system. The encephalopathic phase of Aicardi-Goutieres syndrome leaves behind permanent neurological damage that is usually severe. Medical imaging reveals deterioration of white matter in the brain (leukodystrophy). White matter consists of nerve fibers covered by myelin, which is a substance that insulates and protects nerves. Affected individuals also have abnormal deposits of calcium (calcification) in the brain. Most people with Aicardi-Goutieres syndrome have profound intellectual disability. They also have significant neuromuscular problems including muscle stiffness (spasticity); involuntary tensing of various muscles (dystonia), especially those in the arms; and weak muscle tone (hypotonia) in the trunk. About 40 percent of people with Aicardi-Goutieres syndrome have painful, itchy skin lesions, usually on the fingers, toes, and ears. These puffy, red lesions, which are called chilblains, are caused by inflammation of small blood vessels. They may be brought on or made worse by exposure to cold. Vision problems, joint stiffness, and mouth ulcers may also occur in this disorder. As a result of the severe neurological problems usually associated with Aicardi-Goutieres syndrome, most people with this disorder do not survive past childhood. However, some affected individuals who have later onset and milder neurological problems may live into adulthood.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "what research (or clinical trials) is being done for Neurodegeneration with Brain Iron Accumulation ?"}, {"role": "assistant", "content": "The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system, and to use that knowledge to reduce the burden of neurological disease. NINDS-funded researchers are developing a mouse model of an NBIA disorder to gain insight into the causes of the disease and accelerate ongoing efforts to identify therapeutics to treat it..", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is X-linked chondrodysplasia punctata 1 inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the ARSE gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to infantile systemic hyalinosis ?"}, {"role": "assistant", "content": "Mutations in the ANTXR2 gene (also known as the CMG2 gene) cause infantile systemic hyalinosis. The ANTXR2 gene provides instructions for making a protein involved in the formation of tiny blood vessels (capillaries). Researchers believe that the ANTXR2 protein is also important for maintaining the structure of basement membranes, which are thin, sheet-like structures that separate and support cells in many tissues. The signs and symptoms of infantile systemic hyalinosis are caused by the accumulation of a hyaline substance in different parts of the body. The nature of this substance is not well known, but it is likely made up of protein and sugar molecules. Researchers suspect that mutations in the ANTXR2 gene disrupt the formation of basement membranes, allowing the hyaline substance to leak through and build up in various body tissues.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Cole disease ?"}, {"role": "assistant", "content": "Cole disease is a disorder that affects the skin. People with this disorder have areas of unusually light-colored skin (hypopigmentation), typically on the arms and legs, and spots of thickened skin on the palms of the hands and the soles of the feet (punctate palmoplantar keratoderma). These skin features are present at birth or develop in the first year of life. In some cases, individuals with Cole disease develop abnormal accumulations of the mineral calcium (calcifications) in the tendons, which can cause pain during movement. Calcifications may also occur in the skin or breast tissue.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) COL4A1-related brain small-vessel disease ?"}, {"role": "assistant", "content": "COL4A1-related brain small-vessel disease is part of a group of conditions called the COL4A1-related disorders. The conditions in this group have a range of signs and symptoms that involve fragile blood vessels. COL4A1-related brain small-vessel disease is characterized by weakening of the blood vessels in the brain. Stroke is often the first symptom of this condition, typically occurring in mid-adulthood. In affected individuals, stroke is usually caused by bleeding in the brain (hemorrhagic stroke) rather than a lack of blood flow in the brain (ischemic stroke), although either type can occur. Individuals with this condition are at increased risk of having more than one stroke in their lifetime. People with COL4A1-related brain small vessel disease also have leukoencephalopathy, which is a change in a type of brain tissue called white matter that can be seen with magnetic resonance imaging (MRI). Affected individuals may also experience seizures and migraine headaches accompanied by visual sensations known as auras. Some people with COL4A1-related brain small-vessel disease have an eye abnormality called Axenfeld-Rieger anomaly. Axenfeld-Rieger anomaly involves underdevelopment and eventual tearing of the colored part of the eye (iris) and a pupil that is not in the center of the eye. Other eye problems experienced by people with COL4A1-related brain small-vessel disease include clouding of the lens of the eye (cataract) and the presence of arteries that twist and turn abnormally within the light-sensitive tissue at the back of the eye (arterial retinal tortuosity). Axenfeld-Rieger anomaly and cataract can cause impaired vision. Arterial retinal tortuosity can cause episodes of bleeding within the eye following any minor trauma to the eye, leading to temporary vision loss. The severity of the condition varies greatly among affected individuals. Some individuals with COL4A1-related brain small-vessel disease do not have any signs or symptoms of the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Prostate Cancer ?"}, {"role": "assistant", "content": "Hormonal therapy deprives cancer cells of the male hormones they need to grow and survive. This treatment is often used for prostate cancer that has spread to other parts of the body. Sometimes doctors use hormonal therapy to try to keep the cancer from coming back after surgery or radiation treatment. Side effects can include impotence, hot flashes, loss of sexual desire, and thinning of bones.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Mosaic trisomy 8 ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Mosaic trisomy 8? The facial features are usually mild and can include elongation of the skull (scaphocephaly), prominent forehead, widely-spaced eyes, deeply set eyes, broad upturned nose, micrognathia, and ear abnormalities. Additional features can include: agenesis of the corpus callosum, highly arched or cleft palate, short and large neck, high stature, elongated thin trunk, and narrow shoulders and pelvis. Kidney and cardiac abnormalities are frequent. Camptodactyly, stiff joints, absent malformed kneecap, vertebral malformations such as scoliosis, as well as eye abnormalities also commonly observed. Most affected individuals have moderate intellectual disabilities (IQ between 50 and 75), with some people having a normal intelligence. There is no correlation between the percentage of trisomic cells and the severity of the intellectual deficit. Mosaic trisomy 8 also seems to predispose to Wilms tumors, myelodysplasias, and myeloid leukemia. The Human Phenotype Ontology provides the following list of signs and symptoms for Mosaic trisomy 8. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of chromosome segregation 90% Cognitive impairment 90% Abnormality of pelvic girdle bone morphology 50% Abnormality of the antihelix 50% Abnormality of the ribs 50% Abnormality of the shoulder 50% Anteverted nares 50% Camptodactyly of finger 50% Deep palmar crease 50% Deep plantar creases 50% Deeply set eye 50% Dolichocephaly 50% Frontal bossing 50% Hypertelorism 50% Large earlobe 50% Limitation of joint mobility 50% Long face 50% Low-set, posteriorly rotated ears 50% Narrow chest 50% Opacification of the corneal stroma 50% Patellar aplasia 50% Scoliosis 50% Strabismus 50% Vertebral segmentation defect 50% Vesicoureteral reflux 50% Aplasia/Hypoplasia of the corpus callosum 7.5% Cleft palate 7.5% Cryptorchidism 7.5% Deviation of finger 7.5% Hearing impairment 7.5% Hypopigmented skin patches 7.5% Irregular hyperpigmentation 7.5% Short neck 7.5% Short stature 7.5% Tall stature 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by Miyoshi myopathy ?"}, {"role": "assistant", "content": "The exact prevalence of Miyoshi myopathy is unknown. In Japan, where the condition was first described, it is estimated to affect 1 in 440,000 individuals.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Who is at risk for Rh Incompatibility? ?"}, {"role": "assistant", "content": "An Rh-negative woman who conceives a child with an Rh-positive man is at risk for Rhincompatibility.\n \nRh factor is inherited (passed from parents to children through the genes). If you're Rh-negative and the father of your baby is Rh-positive, the baby has a 50 percent or more chance of having Rh-positive blood.\n \nSimple blood tests can show whether you and the father of your baby are Rh-positive or Rh-negative.\n \nIf you're Rh-negative, your risk of problems from Rh incompatibility is higher if you were exposed to Rh-positive blood before the pregnancy. This may have happened during:\n \nAn earlier pregnancy (usually during delivery). You also may have been exposed to Rh-positive blood if you had bleeding or abdominal trauma (for example, from a car accident) during the pregnancy.\n \nAn ectopic pregnancy, a miscarriage, or an induced abortion. (An ectopic pregnancy is a pregnancy that starts outside of the uterus, or womb.)\n \nA mismatched blood transfusion or blood and marrow stem cell transplant.\n \nAn injection or puncture with a needle or other object containing Rh-positive blood.\n \nCertain tests also can expose you to Rh-positive blood. Examples include amniocentesis (AM-ne-o-sen-TE-sis) and chorionic villus (ko-re-ON-ik VIL-us) sampling (CVS).\n \nAmniocentesis is a test that you may have during pregnancy. Your doctor uses a needle to remove a small amount of fluid from the sac around your baby. The fluid is then tested for various reasons.\n \nCVS also may be done during pregnancy. For this test, your doctor threads a thin tube through the vagina and cervix to the placenta. He or she removes a tissue sample from the placenta using gentle suction. The tissue sample is tested for various reasons.\n \nUnless you were treated with the medicine that prevents Rh antibodies (Rh immune globulin) after each of these events, you're at risk for Rh incompatibility during current and future pregnancies.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) osteoporosis-pseudoglioma syndrome ?"}, {"role": "assistant", "content": "Osteoporosis-pseudoglioma syndrome is a rare condition characterized by severe thinning of the bones (osteoporosis) and eye abnormalities that lead to vision loss. In people with this condition, osteoporosis is usually recognized in early childhood. It is caused by a shortage of minerals, such as calcium, in bones (decreased bone mineral density), which makes the bones brittle and prone to fracture. Affected individuals often have multiple bone fractures, including in the bones that form the spine (vertebrae). Multiple fractures can cause collapse of the affected vertebrae (compressed vertebrae), abnormal side-to-side curvature of the spine (scoliosis), short stature, and limb deformities. Decreased bone mineral density can also cause softening or thinning of the skull (craniotabes). Most affected individuals have impaired vision at birth or by early infancy and are blind by young adulthood. Vision problems are usually caused by one of several eye conditions, grouped together as pseudoglioma, that affect the light-sensitive tissue at the back of the eye (the retina), although other eye conditions have been identified in affected individuals. Pseudogliomas are so named because, on examination, the conditions resemble an eye tumor known as a retinal glioma. Rarely, people with osteoporosis-pseudoglioma syndrome have additional signs or symptoms such as mild intellectual disability, weak muscle tone (hypotonia), abnormally flexible joints, or seizures.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What to do for Diabetic Kidney Disease ?"}, {"role": "assistant", "content": "- Diabetic kidney disease, also called diabetic nephropathy, is kidney disease caused by diabetes. - People with diabetes have high blood glucose, also called high blood sugar or hyperglycemia. - At the onset of diabetes, blood flow into the kidneys increases, which may strain the glomeruli and lessen their ability to filter blood. - Higher levels of blood glucose lead to the buildup of extra material in the glomeruli, which increases the force of the blood moving through the kidneys and creates stress in the glomeruli. - Many people with diabetes can develop high blood pressure, another factor in the development of kidney disease. High blood pressure, also called hypertension, is an increase in the amount of force that blood places on blood vessels as it moves through the entire body. - Diabetic kidney disease takes many years to develop. - People with diabetic kidney disease do not have any symptoms in the early stages. As kidney disease progresses, a person can develop edema, or swelling. Edema happens when the kidneys cannot get rid of the extra fluid and salt in the body. Edema can occur in the legs, feet, or ankles and less often in the hands or face. - Once kidney function decreases further, symptoms may include - appetite loss - nausea - vomiting - drowsiness, or feeling tired - trouble concentrating - sleep problems - increased or decreased urination - generalized itching or numbness - dry skin - headaches - weight loss - darkened skin - muscle cramps - shortness of breath - chest pain - People can prevent or slow the progression of diabetic kidney disease by - taking medication to control high blood pressure - managing blood glucose levels - making changes in their eating, diet, and nutrition - losing weight if they are overweight or obese - getting regular physical activity", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Dyggve-Melchior-Clausen syndrome ?"}, {"role": "assistant", "content": "Dyggve-Melchior-Clausen (DMC) syndrome is a rare, progressive genetic condition characterized by abnormal skeletal development, microcephaly, and intellectual disability. Only about 100 cases have been reported to date. Skeletal abnormalities may include a barrel-shaped chest with a short truck, partial dislocation of the hips, knock knees, bowlegs, and decreased joint mobility. A small number of affected individuals experience instability in the upper neck vertebrae that can lead to spinal cord compression, weakness and paralysis. Normally, there is growth deficiency resulting in short stature. DMC is caused by mutations in the DYM gene and is inherited in an autosomal recessive manner. Some researchers have described an X-linked pattern of inheritance, which has not been confirmed to date.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for X-linked adrenoleukodystrophy ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of X-linked adrenoleukodystrophy: - Gene Review: Gene Review: X-Linked Adrenoleukodystrophy - Genetic Testing Registry: Adrenoleukodystrophy - Genomics Education Programme (UK) - MedlinePlus Encyclopedia: Adrenoleukodystrophy - National Marrow Donor Program - X-linked Adrenoleukodystrophy Database: Diagnosis of X-ALD These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by Acromegaly ?"}, {"role": "assistant", "content": "Small pituitary adenomas are common, affecting about 17 percent of the population.1 However, research suggests most of these tumors do not cause symptoms and rarely produce excess GH.2 Scientists estimate that three to four out of every million people develop acromegaly each year and about 60 out of every million people suffer from the disease at any time.3 Because the clinical diagnosis of acromegaly is often missed, these numbers probably underestimate the frequency of the disease.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Harlequin ichthyosis ?"}, {"role": "assistant", "content": "Harlequin ichthyosis is a severe genetic disorder that mainly affects the skin. The newborn infant is covered with plates of thick skin that crack and split apart. The thick plates can pull at and distort facial features and can restrict breathing and eating. Mutations in the ABCA12 gene cause harlequin ichthyosis. This condition is inherited in an autosomal recessive pattern.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is the outlook for Pseudotumor Cerebri ?"}, {"role": "assistant", "content": "The disorder may cause progressive, permanent visual loss in some patients. In some cases, pseudotumor cerebri recurs.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Keratosis follicularis spinulosa decalvans ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Keratosis follicularis spinulosa decalvans? The Human Phenotype Ontology provides the following list of signs and symptoms for Keratosis follicularis spinulosa decalvans. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Alopecia 90% Aplasia/Hypoplasia of the eyebrow 90% Hyperkeratosis 90% Ichthyosis 90% Abnormality of the fingernails 50% Blepharitis 50% Myopia 50% Opacification of the corneal stroma 50% Retinal detachment 50% Abnormality of dental color 7.5% Abnormality of dental enamel 7.5% Carious teeth 7.5% Eczema 7.5% Conjunctivitis - Corneal dystrophy - Dry skin - Dystrophic fingernails - Ectropion - Facial erythema - Follicular hyperkeratosis - Heterogeneous - Keratitis - Nail dysplasia - Palmoplantar keratoderma - Perifollicular fibrosis - Photophobia - Scarring alopecia of scalp - Sparse eyebrow - Sparse eyelashes - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Neuronal ceroid lipofuscinosis 7 ?"}, {"role": "assistant", "content": "Neuronal ceroid lipofuscinosis 7 (CLN7-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop in early childhood (average age 5 years) and may include loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (the loss of previously acquired skills). CLN7-NCL is caused by changes (mutations) in the MFSD8 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Myoepithelial carcinoma ?"}, {"role": "assistant", "content": "Myoepithelial carcinoma is a rare malignant tumor that usually occurs in the salivary glands but can also occur in skin and soft tissues. The name of this cancer comes from the appearance of the tumor cells under the microscope. Approximately 66% of these tumors occur in the parotid gland. The average age of patients is reported to be 55 years.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Neurogenic diabetes insipidus ?"}, {"role": "assistant", "content": "Neurogenic diabetes insipidus is a disease that causes frequent urination. This type of diabetes insipidus results from damage to the pituitary gland, which disrupts the normal storage and release of antidiuretic hormone (ADH). When this hormone reaches the kidneys, it directs them to make less urine. Damage to the pituitary gland can be caused by different diseases as well as by head injuries, neurosurgery, or genetic disorders. To treat the ADH deficiency that results from any kind of damage to the pituitary, a synthetic hormone called desmopressin can be taken by an injection, a nasal spray, or a pill.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to mucopolysaccharidosis type VII ?"}, {"role": "assistant", "content": "Mutations in the GUSB gene cause MPS VII. This gene provides instructions for producing the beta-glucuronidase (-glucuronidase) enzyme, which is involved in the breakdown of large sugar molecules called glycosaminoglycans (GAGs). GAGs were originally called mucopolysaccharides, which is where this condition gets its name. Mutations in the GUSB gene reduce or completely eliminate the function of -glucuronidase. The shortage (deficiency) of -glucuronidase leads to the accumulation of GAGs within cells, specifically inside the lysosomes. Lysosomes are compartments in the cell that digest and recycle different types of molecules. Conditions such as MPS VII that cause molecules to build up inside the lysosomes are called lysosomal storage disorders. The accumulation of GAGs increases the size of the lysosomes, which is why many tissues and organs are enlarged in this disorder. Researchers believe that the GAGs may also interfere with the functions of other proteins inside the lysosomes and disrupt many normal functions of cells.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Hemorrhoids ?"}, {"role": "assistant", "content": "Hemorrhoids are swollen and inflamed veins around the anus or in the lower rectum. The rectum is the last part of the large intestine leading to the anus. The anus is the opening at the end of the digestive tract where bowel contents leave the body.\n \nExternal hemorrhoids are located under the skin around the anus. Internal hemorrhoids develop in the lower rectum. Internal hemorrhoids may protrude, or prolapse, through the anus. Most prolapsed hemorrhoids shrink back inside the rectum on their own. Severely prolapsed hemorrhoids may protrude permanently and require treatment.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Hyperinsulinemic hypoglycemia familial 2 ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Hyperinsulinemic hypoglycemia familial 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Hyperinsulinemic hypoglycemia familial 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Hyperinsulinemic hypoglycemia - Hypoglycemia - Large for gestational age - Pancreatic islet-cell hyperplasia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What to do for What I need to know about Living with Kidney Failure ?"}, {"role": "assistant", "content": "Eating the right foods can help you feel better when you are on dialysis or have a kidney transplant. Staying healthy with kidney failure requires watching how much of these elements are included in your diet:\n \n- Protein is in many foods you eat. Protein is in foods from animals and plants. Most diets include both types of protein. Protein provides the building blocks that maintain and repair muscles, organs, and other parts of the body. Too much protein can cause waste to build up in your blood, making your kidneys work harder. However, if you are on hemodialysis or peritoneal dialysis, you need lots of protein to replace the protein that dialysis removes. - Phosphorus is a mineral that keeps your bones healthy. Phosphorus also keeps blood vessels and muscles working. This mineral is found naturally in foods rich in protein, such as meat, poultry, fish, nuts, beans, and dairy products. Phosphorus is also added to many processed foods. You need phosphorus to turn food into energy; however, too much can cause your bones to weaken. - Water is in drinks and in foods such as fruits, vegetables, ice cream, gelatin, soup, and popsicles. Your body needs water; however, too much can cause fluid to build up in your body and make your heart work harder. - Sodium is a part of salt. You can find sodium in many canned, packaged, and fast foods and in seasonings and meats. You need sodium to help control the amount of fluid in your body; however, too much can cause high blood pressure. - Potassium is a mineral that helps your nerves and muscles work the right way. Potassium is found in fruits and vegetables such as oranges, bananas, tomatoes, and potatoes. You need potassium for healthy nerves and brain cells; however, too much can make your heartbeat irregular. - Calories are found in all foods and are especially high in oils and sugary foods. You need calories for energy; however, too many can cause weight gain and high blood sugar.\n \nTalk with your clinics renal dietitian to find a meal plan that works for you. Each treatment requires a different diet. If you are on hemodialysis, you have to stay away from foods such as potatoes and oranges because they have lots of potassium. If you are on peritoneal dialysis, eating potassium is fine. Instead, you may need to watch your calories. Your food needs will also depend on your weight and activity level.\n \nChanging your diet may be hard at first. Eating the right foods will help you feel better. You will have more strength and energy. Having more energy will help you live a fuller, healthier life. More information is provided in the NIDDK health topic, Eat Right to Feel Right on Hemodialysis.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Leukemia ?"}, {"role": "assistant", "content": "Cancer begins in cells, which make up the blood and other tissues. Normally, cells grow, divide, and produce more cells as needed to keep the body healthy and functioning properly. Sometimes, however, the process of creating a new cell goes wrong -- cells become abnormal and form more cells in an uncontrolled way.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by neurofibromatosis type 1 ?"}, {"role": "assistant", "content": "Neurofibromatosis type 1 occurs in 1 in 3,000 to 4,000 people worldwide.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) sickle cell disease ?"}, {"role": "assistant", "content": "Sickle cell disease is a group of disorders that affects hemoglobin, the molecule in red blood cells that delivers oxygen to cells throughout the body. People with this disorder have atypical hemoglobin molecules called hemoglobin S, which can distort red blood cells into a sickle, or crescent, shape. Signs and symptoms of sickle cell disease usually begin in early childhood. Characteristic features of this disorder include a low number of red blood cells (anemia), repeated infections, and periodic episodes of pain. The severity of symptoms varies from person to person. Some people have mild symptoms, while others are frequently hospitalized for more serious complications. The signs and symptoms of sickle cell disease are caused by the sickling of red blood cells. When red blood cells sickle, they break down prematurely, which can lead to anemia. Anemia can cause shortness of breath, fatigue, and delayed growth and development in children. The rapid breakdown of red blood cells may also cause yellowing of the eyes and skin, which are signs of jaundice. Painful episodes can occur when sickled red blood cells, which are stiff and inflexible, get stuck in small blood vessels. These episodes deprive tissues and organs of oxygen-rich blood and can lead to organ damage, especially in the lungs, kidneys, spleen, and brain. A particularly serious complication of sickle cell disease is high blood pressure in the blood vessels that supply the lungs (pulmonary hypertension). Pulmonary hypertension occurs in about one-third of adults with sickle cell disease and can lead to heart failure.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Schwartz-Jampel syndrome inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Nephrocalcinosis ?"}, {"role": "assistant", "content": "What causes nephrocalcinosis? Nephrocalcinosis may be caused by a variety of things, including underlying disorders or conditions, medications or supplements, and infections. Causes may include: Primary hyperparathyroidism is the single most common cause of nephrocalcinosis in adults. While nephrocalcinosis is a relatively rare complication (5%), primary hyperparathryroidism is relatively common, especially in the elderly. Rarely, hyperparathyroidism can be associated with multiple endocrine neoplasia type 1 (MEN1). Distal renal tubular acidosis (RTA) is the second most common cause of medullary nephrocalcinosis. hypervitaminosis-D states resulting from excessive treatment of hypoparathyroidism, self-administration of vitamins, and the presence of a granulomatous disease, such as sarcoidosis. Any other cause of hypercalcemia (increased calcium in the blood), particularly when associated with hypercalciuria (increased calcium in the urine). Causes include milk-alkali syndrome (due to excess ingestion of antacids), hyperparathyroidism, and malignant disease. Idiopathic hypercalciuria,a common metabolic disease, is also a known cause. Nephrocalcinosis and renal failure are increasingly being recognized as common complications of phosphate supplementation, particularly in the elderly.Phosphate supplements may contribute to renal calcifications in children with hypophosphatemic rickets. Medullary sponge kidney Rapidly progressive osteoporosis due to immobilization, menopause, aging, or steroids. Primary (familial) hyperoxaluria, or secondary hyperoxaluria due to increased intake of oxalates, increased absorption due to intestinal disease, or ingestion of ethylene glycol. Chronic disorders such as Bartter syndrome, primary hyperaldosteronism, Liddle syndrome, and 11-beta hydroxylase deficiency are associated with reduced urine citrate and tubular damage, leading to calcium deposits. Autosomal dominant hypophosphatemic rickets and X-linked hypophosphatemic conditions, possibly due to phosphate supplementation for the condition. Premature, sick infants have been observed to develop diffuse nephrocalcinosis, typically when exposed to diuretic therapy or prolonged O 2 therapy. Other causes may include the use of certain medications such as acetazolamide; tuberculosis of the kidney; and infections related to AIDS", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Urachal cyst ?"}, {"role": "assistant", "content": "What are the signs and symptoms of a urachal cyst? In most cases, urachal cysts are not associated with any signs or symptoms unless there are complications such as infection. Possible symptoms vary, but may include: Lower abdominal pain Fever Abdominal lump or mass Pain with urination Urinary tract infection Hematuria", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Adenocarcinoma of the appendix ?"}, {"role": "assistant", "content": "How might adenocarcinoma of the appendix be diagnosed? Adenocarcinoma of the appendix may be identified along with acute appendicitis. Mucinous adenocarcinomas may also be found incidentally as a right sided cystic mass on an imaging study.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Carpal Tunnel Syndrome ?"}, {"role": "assistant", "content": "You're working at your desk, trying to ignore the tingling or numbness you've had for some time in your hand and wrist. Suddenly, a sharp, piercing pain shoots through the wrist and up your arm. Just a passing cramp? It could be carpal tunnel syndrome. The carpal tunnel is a narrow passageway of ligament and bones at the base of your hand. It contains nerve and tendons. Sometimes, thickening from irritated tendons or other swelling narrows the tunnel and causes the nerve to be compressed. Symptoms usually start gradually. As they worsen, grasping objects can become difficult. Often, the cause is having a smaller carpal tunnel than other people do. Other causes include performing assembly line work, wrist injury, or swelling due to certain diseases, such as rheumatoid arthritis. Women are three times more likely to have carpal tunnel syndrome than men. Early diagnosis and treatment are important to prevent permanent nerve damage. Your doctor diagnoses carpal tunnel syndrome with a physical exam and special nerve tests. Treatment includes resting your hand, splints, pain and anti-inflammatory medicines, and sometimes surgery. NIH: National Institute of Neurological Disorders and Stroke", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Chancroid ?"}, {"role": "assistant", "content": "Chancroid is a bacterial infection that is spread through sexual contact. It is caused by a type of bacteria called Haemophilus ducreyi. Chancroid is characterized by a small bump on the genital which becomes a painful ulcer. Men may have just one ulcer, but women often develop four or more. About half of the people who are infected with a chancroid will develop enlarged inguinal lymph nodes, the nodes located in the fold between the leg and the lower abdomen. In some cases, the nodes will break through the skin and cause draining abscesses. The swollen lymph nodes and abscesses are often called buboes. Chancroid infections can be treated with antibiotics, including azithromycin, ceftriaxone, ciprofloxacin, and erythromycin. Large lymph node swellings need to be drained, either with a needle or local surgery.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Do you have information about Puberty"}, {"role": "assistant", "content": "Summary : Puberty is the time in life when a boy or girl becomes sexually mature. It is a process that usually happens between ages 10 and 14 for girls and ages 12 and 16 for boys. It causes physical changes, and affects boys and girls differently. In girls: - The first sign of puberty is usually breast development. - Then hair grows in the pubic area and armpits. - Menstruation (or a period) usually happens last. In boys: - Puberty usually begins with the testicles and penis getting bigger. - Then hair grows in the pubic area and armpits. - Muscles grow, the voice deepens, and facial hair develops as puberty continues. Both boys and girls may get acne. They also usually have a growth spurt (a rapid increase in height) that lasts for about 2 or 3 years. This brings them closer to their adult height, which they reach after puberty. NIH: National Institute of Child Health and Human Development", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Punctate palmoplantar keratoderma type I ?"}, {"role": "assistant", "content": "What causes palmoplantar keratoderma type 1? Punctate palmoplantar keratoderma type 1 is a condition that is usually inherited in an autosomal dominant manner. It has recently been shown to be caused by mutations in the AAGAB gene in several families. Although the exact function of the AAGAB gene is currently unknown, the gene is thought to play an important role in skin integrity.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to pyruvate carboxylase deficiency ?"}, {"role": "assistant", "content": "Mutations in the PC gene cause pyruvate carboxylase deficiency. The PC gene provides instructions for making an enzyme called pyruvate carboxylase. This enzyme is active in mitochondria, which are the energy-producing centers within cells. It is involved in several important cellular functions including the generation of glucose, a simple sugar that is the body's main energy source. Pyruvate carboxylase also plays a role in the formation of the protective sheath that surrounds certain nerve cells (myelin) and the production of brain chemicals called neurotransmitters. Mutations in the PC gene reduce the amount of pyruvate carboxylase in cells or disrupt the enzyme's activity. The missing or altered enzyme cannot carry out its essential role in generating glucose, which impairs the body's ability to make energy in mitochondria. Additionally, a loss of pyruvate carboxylase allows potentially toxic compounds such as lactic acid and ammonia to build up and damage organs and tissues. Researchers suggest that the loss of pyruvate carboxylase function in the nervous system, particularly the role of the enzyme in myelin formation and neurotransmitter production, also contributes to the neurologic features of pyruvate carboxylase deficiency.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Kearns-Sayre syndrome ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of Kearns-Sayre syndrome: - Gene Review: Gene Review: Mitochondrial DNA Deletion Syndromes - Genetic Testing Registry: Kearns Sayre syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Prolactinoma ?"}, {"role": "assistant", "content": "The goals of treatment are to return prolactin secretion to normal, reduce tumor size, correct any visual abnormalities, and restore normal pituitary function. In the case of large tumors, only partial achievement of these goals may be possible.\n \nMedical Treatment\n \nBecause dopamine is the chemical that normally inhibits prolactin secretion, doctors may treat prolactinoma with the dopamine agonists bromocriptine (Parlodel) or cabergoline (Dostinex). Agonists are drugs that act like a naturally occurring substance. These drugs shrink the tumor and return prolactin levels to normal in approximately 80 percent of patients. Both drugs have been approved by the U.S. Food and Drug Administration for the treatment of hyperprolactinemia. Bromocriptine is the only dopamine agonist approved for the treatment of infertility. This drug has been in use longer than cabergoline and has a well-established safety record.\n \nNausea and dizziness are possible side effects of bromocriptine. To avoid these side effects, bromocriptine treatment must be started slowly. A typical starting dose is one-quarter to one-half of a 2.5 milligram (mg) tablet taken at bedtime with a snack. The dose is gradually increased every 3 to 7 days as needed and taken in divided doses with meals or at bedtime with a snack. Most people are successfully treated with 7.5 mg a day or less, although some people need 15 mg or more each day. Because bromocriptine is short acting, it should be taken either twice or three times daily.\n \nBromocriptine treatment should not be stopped without consulting a qualified endocrinologist-a doctor specializing in disorders of the hormone-producing glands. Prolactin levels rise again in most people when the drug is discontinued. In some, however, prolactin levels remain normal, so the doctor may suggest reducing or discontinuing treatment every 2 years on a trial basis.\n \nCabergoline is a newer drug that may be more effective than bromocriptine in normalizing prolactin levels and shrinking tumor size. Cabergoline also has less frequent and less severe side effects. Cabergoline is more expensive than bromocriptine and, being newer on the market, its long-term safety record is less well defined. As with bromocriptine therapy, nausea and dizziness are possible side effects but may be avoided if treatment is started slowly. The usual starting dose is .25 mg twice a week. The dose may be increased every 4 weeks as needed, up to 1 mg two times a week. Cabergoline should not be stopped without consulting a qualified endocrinologist.\n \nRecent studies suggest prolactin levels are more likely to remain normal after discontinuing long-term cabergoline therapy than after discontinuing bromocriptine. More research is needed to confirm these findings.\n \nIn people taking cabergoline or bromocriptine to treat Parkinson's disease at doses more than 10 times higher than those used for prolactinomas, heart valve damage has been reported. Rare cases of valve damage have been reported in people taking low doses of cabergoline to treat hyperprolactinemia. Before starting these medications, the doctor will order an echocardiogram. An echocardiogram is a sonogram of the heart that checks the heart valves and heart function.\n \nBecause limited information exists about the risks of long-term, low-dose cabergoline use, doctors generally prescribe the lowest effective dose and periodically reassess the need for continuing therapy. People taking cabergoline who develop symptoms of shortness of breath or swelling of the feet should promptly notify their physician because these may be signs of heart valve damage.\n \nSurgery\n \nSurgery to remove all or part of the tumor should only be considered if medical therapy cannot be tolerated or if it fails to reduce prolactin levels, restore normal reproduction and pituitary function, and reduce tumor size. If medical therapy is only partially successful, it should be continued, possibly combined with surgery or radiation.\n \nMost often, the tumor is removed through the nasal cavity. Rarely, if the tumor is large or has spread to nearby brain tissue, the surgeon will access the tumor through an opening in the skull.\n \nThe results of surgery depend a great deal on tumor size and prolactin levels as well as the skill and experience of the neurosurgeon. The higher the prolactin level before surgery, the lower the chance of normalizing serum prolactin. Serum is the portion of the blood used in measuring prolactin levels. In the best medical centers, surgery corrects prolactin levels in about 80 percent of patients with small tumors and a serum prolactin less than 200 nanograms per milliliter (ng/ml). A surgical cure for large tumors is lower, at 30 to 40 percent. Even in patients with large tumors that cannot be completely removed, drug therapy may be able to return serum prolactin to the normal range-20 ng/ml or less-after surgery. Depending on the size of the tumor and how much of it is removed, studies show that 20 to 50 percent will recur, usually within 5 years.\n \nBecause the results of surgery are so dependent on the skill and knowledge of the neurosurgeon, a patient should ask the surgeon about the number of operations he or she has performed to remove pituitary tumors and for success and complication rates in comparison to major medical centers. The best results come from surgeons who have performed hundreds or even thousands of such operations. To find a surgeon, contact The Pituitary Society (see For More Information).\n \nRadiation\n \nRarely, radiation therapy is used if medical therapy and surgery fail to reduce prolactin levels. Depending on the size and location of the tumor, radiation is delivered in low doses over the course of 5 to 6 weeks or in a single high dose. Radiation therapy is effective about 30 percent of the time.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Serpiginous choroiditis inherited ?"}, {"role": "assistant", "content": "Can I inherit serpiginous choroiditis if my mother has the condition? No familial predillection or propensity has been described.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to Salih myopathy ?"}, {"role": "assistant", "content": "Salih myopathy is caused by mutations in the TTN gene. This gene provides instructions for making a protein called titin, which plays an important role in skeletal and cardiac muscle function. Within muscle cells, titin is an essential component of structures called sarcomeres. Sarcomeres are the basic units of muscle contraction; they are made of proteins that generate the mechanical force needed for muscles to contract. Titin has several functions within sarcomeres. One of this protein's most important jobs is to provide structure, flexibility, and stability to these cell structures. Titin also plays a role in chemical signaling and in assembling new sarcomeres. The TTN gene mutations responsible for Salih myopathy lead to the production of an abnormally short version of titin. The defective protein disrupts the function of sarcomeres, which prevents skeletal and cardiac muscle from contracting normally. These muscle abnormalities underlie the features of Salih myopathy, including skeletal muscle weakness and dilated cardiomyopathy.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for mucopolysaccharidosis type VI ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of mucopolysaccharidosis type VI: - Emory University Lysosomal Storage Disease Center - Genetic Testing Registry: Mucopolysaccharidosis type VI - MedlinePlus Encyclopedia: Mucopolysaccharides - National Institute of Neurological Disorders and Stroke: Mucopolysaccharidoses Fact Sheet - National MPS Society: Treatments These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Primary Ciliary Dyskinesia ?"}, {"role": "assistant", "content": "Unfortunately, no treatment is available yet to fix faulty airway cilia. (Cilia are tiny, hair-like structures that line the airways.) Thus, treatment for primary ciliary dyskinesia (PCD) focuses on which symptoms and complications you have.\n \nThe main goals of treating PCD are to:\n \nControl and treat lung, sinus, and ear infections\n \nRemove trapped mucus from the lungs and airways\n \nSpecialists Involved\n \nMany doctors may help care for someone who has PCD. For example, a neonatologist may suspect PCD or another lung disorder if a newborn has breathing problems at birth. A neonatologist is a doctor who specializes in treating newborns.\n \nA pediatrician may suspect PCD if a child has chronic (ongoing) sinus, ear, and/or lung infections. A pediatrician is a doctor who specializes in treating children. This type of doctor provides children with ongoing care from an early age and treats conditions such as ear infections and breathing problems.\n \nAn otolaryngologist also may help diagnose and treat PCD. This type of doctor treats ear, nose, and throat disorders and also is called an ear, nose, and throat (ENT) specialist. If a child has chronic sinus or ear infections, an ENT specialist may be involved in the child's care.\n \nA pulmonologist may help diagnose or treat lung problems related to PCD. This type of doctor specializes in diagnosing and treating lung diseases and conditions. Most people who have PCD have lung problems at some point in their lives.\n \nA pathologist is a doctor who specializes in identifying diseases by studying cells and tissues under a microscope. This type of doctor may help diagnose PCD by looking at cilia under a microscope.\n \nA pathologist also may look at mucus samples to see what types of bacteria are causing infections. This information can help your doctor decide which treatments to prescribe.\n \nTreatments for Breathing and Lung Problems\n \nStandard treatments for breathing and lung problems in people who have PCD are chest physical therapy (CPT), exercise, and medicines.\n \nOne of the main goals of these treatments is to get you to cough. Coughing clears mucus from the airways, which is important for people who have PCD. For this reason, your doctor also may advise you to avoid medicines that suppress coughing.\n \nChest Physical Therapy\n \nCPT also is called chest clapping or percussion. It involves pounding your chest and back over and over with your hands or a device to loosen the mucus from your lungs so that you can cough it up.\n \nYou might sit down or lie on your stomach with your head down while you do CPT. Gravity and force help drain the mucus from your lungs.\n \nSome people find CPT hard or uncomfortable to do. Several devices have been made to help with CPT, such as:\n \nAn electric chest clapper, known as a mechanical percussor.\n \nAn inflatable therapy vest that uses high-frequency airwaves. The airwaves force the mucus that's deep in your lungs toward your upper airways so you can cough it up.\n \nA small hand-held device that you breathe out through. The device causes vibrations that dislodge the mucus.\n \nA mask that creates vibrations to help break the mucus loose from your airway walls.\n \nBreathing techniques also may help dislodge mucus so you can cough it up. These techniques include forcing out a couple of short breaths or deeper breaths and then doing relaxed breathing. This may help loosen the mucus in your lungs and open your airways.\n \nExercise\n \nAerobic exercise that makes you breathe harder helps loosen the mucus in your airways so you can cough it up. Exercise also helps improve your overall physical condition.\n \nTalk with your doctor about what types and amounts of exercise are safe for you or your child.\n \nMedicines\n \nIf you have PCD, your doctor may prescribe antibiotics, bronchodilators, or anti-inflammatory medicines. These medicines help treat lung infections, open up the airways, and reduce swelling.\n \nAntibiotics are the main treatment to prevent or treat lung infections. Your doctor may prescribe oral or intravenous (IV) antibiotics.\n \nOral antibiotics often are used to treat mild lung infections. For severe or hard-to-treat infections, you may be given IV antibiotics through a tube inserted into a vein.\n \nTo help decide which antibiotics you need, your doctor may send mucus samples to a pathologist. The pathologist will try to find out which bacteria are causing the infection.\n \nBronchodilators help open the airways by relaxing the muscles around them. You inhale these medicines. Often, they're taken just before CPT to help clear mucus from your lungs. You also may take bronchodilators before inhaling other medicines into your lungs.\n \nAnti-inflammatory medicines can help reduce swelling in your airways that's caused by ongoing infections. These medicines may be inhaled or oral.\n \nTreatments for Sinus and Ear Infections\n \nTo treat infections, your doctor may recommend saline nasal washes and anti-inflammatory nasal spray. If these treatments aren't enough, you may need medicines, such as antibiotics. If antibiotics don't work, surgery may be an option.\n \nTympanostomy (tim-pan-OS-toe-me) is a procedure in which small tubes are inserted into the eardrums to help drain mucus from the ears. This procedure may help children who have hearing problems caused by PCD.\n \nNasal or sinus surgery may help drain the sinuses and provide short-term relief of symptoms. However, the long-term benefits of this treatment are unclear.\n \nTreatments for Advanced Lung Disease\n \nPeople who have PCD may develop a serious lung condition called bronchiectasis. This condition often is treated with medicines, hydration (drinking plenty of fluids), and CPT.\n \nIf bronchiectasis severely affects part of your lung, surgery may be used to remove that area of lung.\n \nIn very rare cases, if other treatments haven't worked, lung transplant may be an option for severe lung disease. A lung transplant is surgery to remove a person's diseased lung and replace it with a healthy lung from a deceased donor.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for fumarase deficiency ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of fumarase deficiency: - Gene Review: Gene Review: Fumarate Hydratase Deficiency - Genetic Testing Registry: Fumarase deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Landau-Kleffner syndrome ?"}, {"role": "assistant", "content": "Landau-Kleffner syndrome (LKS) is a rare, childhood neurological disorder characterized by the sudden or gradual development of aphasia (the inability to understand or express language) and an abnormal electro-encephalogram (EEG). The disorder usually occurs in children between age 2 and 8. Typically, children with LKS develop normally but then lose their language skills for no apparent reason. While many of the affected individuals have seizures, some do not. The disorder is difficult to diagnose and may be misdiagnosed as autism, pervasive developmental disorder, hearing impairment, learning disability, auditory/verbal processing disorder, attention deficit disorder, intellectual disability, childhood schizophrenia, or emotional/behavioral problems. Treatment for LKS usually consists of medications, such as anticonvulsants and corticosteroids, and speech therapy, which should be started promptly. The prognosis varies. Some children may have a permanent language disorder, while others may regain much of their language abilities (although it may take months or years).", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by Brody myopathy ?"}, {"role": "assistant", "content": "Brody myopathy is a rare condition, although its exact prevalence is unknown.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Aicardi-Goutieres syndrome type 2 ?"}, {"role": "assistant", "content": "Aicardi-Goutieres syndrome is an inherited condition that mainly affects the brain, immune system, and skin. It is characterized by early-onset severe brain dysfunction (encephalopathy) that usually results in severe intellectual and physical disability. Additional symptoms may include epilepsy, painful, itchy skin lesion (chilblains), vision problems, and joint stiffness. Symptoms usually progress over several months before the disease course stabilizes. There are six different types of Aicardi-Goutieres syndrome, which are distinguished by the gene that causes the condition: TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR genes. Most cases are inherited in an autosomal recessive pattern, although rare autosomal dominant cases have been reported. Treatment is symptomatic and supportive.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is familial thoracic aortic aneurysm and dissection inherited ?"}, {"role": "assistant", "content": "Familial TAAD is inherited in an autosomal dominant pattern, which means one copy of an altered gene in each cell can be sufficient to cause the condition. In most cases, an affected person has one affected parent. However, some people who inherit an altered gene never develop the aortic abnormalities associated with the condition; this situation is known as reduced penetrance.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Dowling-Degos disease ?"}, {"role": "assistant", "content": "Is there a medicine that can cure Dowling-Degos disease? There is no cure for Dowling-Degos disease. Many different treatments have been tried for this condition, but none has proven effective in eliminating the symptoms for all patients. Topical retinoic acids, topical steroids, hydroquinone, tretinoin, and systemic retinoids have been used without success. Limited reports indicate at least temporary therapeutic benefit with topical adapalene. Various laser systems (CO2 and erbiumYAG) have also shown some promise. Additional articles that address this topic can be accessed below: Altomare G, Capella GL, Fracchiolla C, Frigerio E. Effectiveness of topical adapalene in Dowling-Degos disease. Dermatology. 1999;198(2):176-7.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Dihydrolipoamide dehydrogenase deficiency ?"}, {"role": "assistant", "content": "How might dihydrolipoamide dehydrogenase deficiency be treated? There are currently no consensus recommendations for the management of dihydrolipoamide dehydrogenase (DLD) deficiency. Management can be hard because various metabolic pathways are affected and 3 enzyme complexes are involved. Deficiencies in enzyme pathways vary depending on the specific mutation(s) each affected person has. Unfortunately, the treatments that have been attempted in children with the early-onset neurologic form do not appear to significantly alter the course of the disease. Even with treatment, children often do not survive infancy or have varying degrees of chronic neurologic impairment if they survive the initial episode. Depending on individual enzyme complex deficiencies, treatment may involve certain dietary restrictions or certain diets; use of medical foods; and/or supplementation of specific amino acids or other substances. There is limited data for the chronic management of people with the primarily hepatic (liver-related) form of the disease. Management typically involves supportive therapy during times of acute liver injury or failure, and may include nutritional support; IV glucose for hypoglycemia; correction of metabolic acidosis; correction of coagulopathy; and avoidance of liver-toxic medications. More detailed information about the management of DLD deficiency can be viewed on the GeneReviews Web site. GeneReviews is intended for use by genetics professionals. Those not familiar with the principles discussed on the GeneReviews Web site are encouraged to speak with a genetics professional or other healthcare provider regarding information of interest.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Adolescent idiopathic scoliosis ?"}, {"role": "assistant", "content": "How might adolescent idiopathic scoliosis be treated? Treatment of adolescent idiopathic scoliosis may involve observation, bracing and/or surgery. Treatment recommendations are generally dependent upon the risk of curve progression. Curves progress most during the rapid growth period of the patient (adolescent or pre-adolescent growth spurt). The potential for growth is evaluated by taking into consideration the patient's age, the status of whether females have had their first menstrual period, and radiographic parameters (x-ray studies). Detailed information about these treatment options can be accessed through the Scoliosis Research Society.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Myotonia ?"}, {"role": "assistant", "content": "Myotonia is a medical term that refers to a neuromuscular condition in which the relaxation of a muscle is impaired. It can affect any muscle group. Repeated effort will be needed to relax the muscle, although the condition usually improves after the muscles have warmed-up. Individuals with myotonia may have trouble releasing their grip on objects or may have difficulty rising from a seated position. They may walk with a stiff, awkward gait. Myotonia is caused by an abnormality in the muscle membrane, and is often associated with inherited neurological disorders. Myotonia is commonly seen in individuals with myotonic muscular dystrophy, myotonia congenita, and in people who have one of a group of neurological disorders called the channelopathies, which are inherited diseases that are caused by mutations in the chloride sodium or potassium channels that regulate the muscle membrane. Myotonia may also be triggered by exposure to cold.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is sialidosis inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Neurofibromatosis ?"}, {"role": "assistant", "content": "Neurofibromatosis (NF) is a genetic condition that causes tumors to develop in the nervous system. There are three types of neurofibromatosis that are each associated with unique signs and symptoms: Neurofibromatosis type 1 (NF1) causes skin changes (cafe-au-lait spots, freckling in armpit and groin area); bone abnormalities; optic gliomas; and tumors on the nerve tissue or under the skin. Signs and symptoms are usually present at birth. Neurofibromatosis type 2 (NF2) causes acoustic neuromas; hearing loss; ringing in the ears; poor balance; brain and/or spinal tumors; and cataracts at a young age. It often starts in the teen years. Schwannomatosis causes schwannomas, pain, numbness, and weakness. It is the rarest type. All three types of NF are inherited in an autosomal dominant manner. There is no cure for neurofibromatosis. Treatment is aimed at controlling symptoms and may include surgery to remove tumors, radiation therapy and/or medicines.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to prevent What I need to know about Erectile Dysfunction ?"}, {"role": "assistant", "content": "You can prevent many of the causes of ED by making healthy lifestyle choices. Following a healthy diet may help prevent ED. Quitting smoking and getting physical activity are also important ways to prevent ED.\n \nPhysical activity increases blood flow throughout your body, including your penis. Talk with your doctor before starting new activities. If you have not been active, start slow, with easier activities such as walking at a normal pace or gardening. Then you can work up to harder activities such as walking briskly or swimming. Try to aim for at least 30 minutes of activity most days of the week.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Breast Cancer ?"}, {"role": "assistant", "content": "Key Points\n - Treatment options for pregnant women depend on the stage of the disease and the age of the unborn baby. - Three types of standard treatment are used: - Surgery - Radiation therapy - Chemotherapy - Ending the pregnancy does not seem to improve the mothers chance of survival. - Treatment for breast cancer may cause side effects.\n \n \n Treatment options for pregnant women depend on the stage of the disease and the age of the unborn baby.\n \n \n \n Three types of standard treatment are used:\n Surgery Most pregnant women with breast cancer have surgery to remove the breast. Some of the lymph nodes under the arm may be removed and checked under a microscope for signs of cancer. Types of surgery to remove the cancer include: - Modified radical mastectomy: Surgery to remove the whole breast that has cancer, many of the lymph nodes under the arm, the lining over the chest muscles, and sometimes, part of the chest wall muscles. This type of surgery is most common in pregnant women. - Breast-conserving surgery: Surgery to remove the cancer and some normal tissue around it, but not the breast itself. Part of the chest wall lining may also be removed if the cancer is near it. This type of surgery may also be called lumpectomy, partial mastectomy, segmental mastectomy, quadrantectomy, or breast-sparing surgery. Even if the doctor removes all of the cancer that can be seen at the time of surgery, the patient may be given radiation therapy or chemotherapy after surgery to try to kill any cancer cells that may be left. For pregnant women with early-stage breast cancer, radiation therapy and hormone therapy are given after the baby is born. Treatment given after surgery, to lower the risk that the cancer will come back, is called adjuvant therapy. Radiation therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy: - External radiation therapy uses a machine outside the body to send radiation toward the cancer. - Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. The way the radiation therapy is given depends on the type and stage of the cancer being treated. External radiation therapy is not given to pregnant women with early stage (stage I or II) breast cancer because it can harm the unborn baby. For women with late stage (stage III or IV) breast cancer, radiation therapy is not given during the first 3 months of pregnancy and is delayed until after the baby is born, if possible. Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping the cells from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). The way the chemotherapy is given depends on the type and stage of the cancer being treated. Chemotherapy is usually not given during the first 3 months of pregnancy. Chemotherapy given after this time does not usually harm the unborn baby but may cause early labor and low birth weight. See Drugs Approved for Breast Cancer for more information.\n \n \n Ending the pregnancy does not seem to improve the mothers chance of survival.\n Because ending the pregnancy is not likely to improve the mothers chance of survival, it is not usually a treatment option.\n \n \n Treatment for breast cancer may cause side effects.\n For information about side effects caused by treatment for cancer, see our Side Effects page.\n \n\t\t \n\t\t Treatment Options by Stage\n\t\t \n\t\t \n\t\t Early Stage Breast Cancer (Stage I and Stage II)\n\t\t Treatment of early-stage breast cancer (stage I and stage II) may include the following: - Modified radical mastectomy. - Breast-conserving surgery followed by radiation therapy. In pregnant women, radiation therapy is delayed until after the baby is born. - Modified radical mastectomy or breast-conserving surgery during pregnancy followed by chemotherapy after the first 3 months of pregnancy.\n\t\t \n\t\t \n\t\t Late Stage Breast Cancer (Stage III and Stage IV)\n\t\t Treatment of late-stage breast cancer (stage III and stage IV) may include the following: - Radiation therapy. - Chemotherapy. Radiation therapy and chemotherapy should not be given during the first 3 months of pregnancy.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Do you have information about Tsunamis"}, {"role": "assistant", "content": "Summary : A tsunami is a series of huge ocean waves created by an underwater disturbance. Causes include earthquakes, landslides, volcanic eruptions, or meteorites--chunks of rock from space that strike the surface of Earth. A tsunami can move hundreds of miles per hour in the open ocean. It can smash into land with waves as high as 100 feet or more and cause devastating floods. Drowning is the most common cause of death related to a tsunami. Although there are no guarantees of safety during a tsunami, you can take actions to protect yourself. You should have a disaster plan. Being prepared can help reduce fear, anxiety, and losses. If you do experience a disaster, it is normal to feel stressed. You may need help in finding ways to cope. Federal Emergency Management Agency", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Dystonia ?"}, {"role": "assistant", "content": "Dystonia is a movement disorder that causes involuntary contractions of your muscles. These contractions result in twisting and repetitive movements. Sometimes they are painful. Dystonia can affect just one muscle, a group of muscles or all of your muscles. Symptoms can include tremors, voice problems or a dragging foot. Symptoms often start in childhood. They can also start in the late teens or early adulthood. Some cases worsen over time. Others are mild. Some people inherit dystonia. Others have it because of another disease. Researchers think that dystonia may be due to a problem in the part of the brain that handles messages about muscle contractions. There is no cure. Doctors use medicines, Botox injections, surgery, physical therapy, and other treatments to reduce or eliminate muscle spasms and pain. NIH: National Institute of Neurological Disorders and Stroke", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Factor V Leiden thrombophilia inherited ?"}, {"role": "assistant", "content": "How is factor V Leiden inherited? Factor V Leiden is a genetic condition and can be inherited from a parent. It is important to understand that each person inherits two copies of every gene, one from their mother and the other copy from their father. Individuals who inherit one copy of the factor V Leiden mutation from a parent are called heterozygotes. Heterozygotes have a 50% chance with each pregnancy of passing the mutated gene to their offspring (and therefore they also have a 50% chance of having a child who does not inherit the gene mutation). People who inherit two copies of the mutation, one from each parent, are called homozygotes. Homozygotes will always pass one copy of the mutated gene to their offspring. If both parents are heterozygotes (carry one factor V Leiden mutation) than they would have a 25% chance of having a child with two factor V Leiden mutations, a 25% chance of having a child with no mutations, and a 50% chance of having a child with one mutation.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by cyclic neutropenia ?"}, {"role": "assistant", "content": "Cyclic neutropenia is a rare condition and is estimated to occur in 1 in 1 million individuals worldwide.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Who is at risk for Sleep Apnea? ?"}, {"role": "assistant", "content": "Obstructive sleep apnea is a common condition. About half of the people who have this condition are overweight.\n \nMen are more likely than women to have sleep apnea. Although the condition can occur at any age, the risk increases as you get older. A family history of sleep apnea also increases your risk for the condition.\n \nPeople who have small airways in their noses, throats, or mouths are more likely to have sleep apnea. Small airways might be due to the shape of these structures or allergies or other conditions that cause congestion.\n \nSmall children might have enlarged tonsil tissues in their throats. Enlarged tonsil tissues raise a childs risk for sleep apnea. Overweight children also might be at increased risk for sleep apnea.\n \nAbout half of the people who have sleep apnea also have high blood pressure. Sleep apnea also is linked to smoking, metabolic syndrome, diabetes, and risk factors for stroke and heart failure.\n \nRace and ethnicity might play a role in the risk of developing sleep apnea. However, more research is needed.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to giant congenital melanocytic nevus ?"}, {"role": "assistant", "content": "NRAS gene mutations cause most cases of giant congenital melanocytic nevus. Rarely, mutations in the BRAF gene are responsible for this condition. The proteins produced from these genes are involved in a process known as signal transduction by which signals are relayed from outside the cell to the cell's nucleus. Signals relayed by the N-Ras and BRAF proteins instruct the cell to grow and divide (proliferate) or to mature and take on specialized functions (differentiate). To transmit signals, these proteins must be turned on; when the proteins are turned off, they do not relay signals to the cell's nucleus. The NRAS or BRAF gene mutations responsible for giant congenital melanocytic nevus are somatic, meaning that they are acquired during a person's lifetime and are present only in certain cells. These mutations occur early in embryonic development during the growth and division (proliferation) of cells that develop into melanocytes. Somatic NRAS or BRAF gene mutations cause the altered protein in affected cells to be constantly turned on (constitutively active) and relaying signals. The overactive protein may contribute to the development of giant congenital melanocytic nevus by allowing cells that develop into melanocytes to grow and divide uncontrollably, starting before birth.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Leydig cell hypoplasia inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Only people who have mutations in both copies of the LHCGR gene and are genetically male (with one X and one Y chromosome in each cell) have the characteristic signs of Leydig cell hypoplasia. Although people who are genetically female (with two X chromosomes in each cell) may inherit mutations in both copies of the LHCGR gene, they do not have Leydig cell hypoplasia because they do not have Leydig cells. They have normal female genitalia and normal breast and pubic hair development, but they may begin menstruation later than usual (after age 16) and have irregular menstrual periods. LHCGR gene mutations in females also prevent ovulation, leading to inability to have children (infertility).", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for breast cancer ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of breast cancer: - Gene Review: Gene Review: BRCA1 and BRCA2 Hereditary Breast/Ovarian Cancer - Gene Review: Gene Review: Hereditary Diffuse Gastric Cancer - Gene Review: Gene Review: Li-Fraumeni Syndrome - Gene Review: Gene Review: PTEN Hamartoma Tumor Syndrome (PHTS) - Gene Review: Gene Review: Peutz-Jeghers Syndrome - Genetic Testing Registry: Familial cancer of breast - Genomics Education Programme (UK): Hereditary Breast and Ovarian Cancer - National Cancer Institute: Breast Cancer Risk Assessment Tool - National Cancer Institute: Genetic Testing for BRCA1 and BRCA2: It's Your Choice - National Cancer Institute: Genetic Testing for Hereditary Cancer Syndromes These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Polycythemia Vera ?"}, {"role": "assistant", "content": "Polycythemia vera (PV) doesn't have a cure. However, treatments can help control the disease and its complications. PV is treated with procedures, medicines, and other methods. You may need one or more treatments to manage the disease.\n \nGoals of Treatment\n \nThe goals of treating PV are to control symptoms and reduce the risk of complications, especially heart attack and stroke. To do this, PV treatments reduce the number of red blood cells and the level of hemoglobin (an iron-rich protein) in the blood. This brings the thickness of your blood closer to normal.\n \nBlood with normal thickness flows better through the blood vessels. This reduces the chance that blood clots will form and cause a heart attack or stroke.\n \nBlood with normal thickness also ensures that your body gets enough oxygen. This can help reduce some of the signs and symptoms of PV, such as headaches, vision problems, and itching.\n \nStudies show that treating PV greatly improves your chances of living longer.\n \nThe goal of treating secondary polycythemia is to control its underlying cause, if possible. For example, if the cause is carbon monoxide exposure, the goal is to find the source of the carbon monoxide and fix or remove it.\n \nTreatments To Lower Red Blood Cell Levels\n \nPhlebotomy\n \nPhlebotomy (fle-BOT-o-me) is a procedure that removes some blood from your body. For this procedure, a needle is inserted into one of your veins. Blood from the vein flows through an airtight tube into a sterile container or bag. The process is similar to the process of donating blood.\n \nPhlebotomy reduces your red blood cell count and starts to bring your blood thickness closer to normal.\n \nTypically, a pint (1 unit) of blood is removed each week until your hematocrit level approaches normal. (Hematocrit is the measure of how much space red blood cells take up in your blood.)\n \nYou may need to have phlebotomy done every few months.\n \nMedicines\n \nYour doctor may prescribe medicines to keep your bone marrow from making too many red blood cells. Examples of these medicines include hydroxyurea and interferon-alpha.\n \nHydroxyurea is a medicine generally used to treat cancer. This medicine can reduce the number of red blood cells and platelets in your blood. As a result, this medicine helps improve your blood flow and bring the thickness of your blood closer to normal.\n \nInterferon-alpha is a substance that your body normally makes. It also can be used to treat PV. Interferon-alpha can prompt your immune system to fight overactive bone marrow cells. This helps lower your red blood cell count and keep your blood flow and blood thickness closer to normal.\n \nRadiation Treatment\n \nRadiation treatment can help suppress overactive bone marrow cells. This helps lower your red blood cell count and keep your blood flow and blood thickness closer to normal.\n \nHowever, radiation treatment can raise your risk of leukemia (blood cancer) and other blood diseases.\n \nTreatments for Symptoms\n \nAspirin can relieve bone pain and burning feelings in your hands or feet that you may have as a result of PV. Aspirin also thins your blood, so it reduces the risk of blood clots.\n \nAspirin can have side effects, including bleeding in the stomach and intestines. For this reason, take aspirin only as your doctor recommends.\n \nIf your PV causes itching, your doctor may prescribe medicines to ease the discomfort. Your doctor also may prescribe ultraviolet light treatment to help relieve your itching.\n \nOther ways to reduce itching include:\n \nAvoiding hot baths. Cooler water can limit irritation to your skin.\n \nGently patting yourself dry after bathing. Vigorous rubbing with a towel can irritate your skin.\n \nTaking starch baths. Add half a box of starch to a tub of lukewarm water. This can help soothe your skin.\n \nExperimental Treatments\n \nResearchers are studying other treatments for PV. An experimental treatment for itching involves taking low doses of selective serotonin reuptake inhibitors (SSRIs). This type of medicine is used to treat depression. In clinical trials, SSRIs reduced itching in people who had PV.\n \nImatinib mesylate is a medicine that's approved for treating leukemia. In clinical trials, this medicine helped reduce the need for phlebotomy in people who had PV. This medicine also helped reduce the size of enlarged spleens.\n \nResearchers also are trying to find a treatment that can block or limit the effects of an abnormal JAK2 gene. (A mutation, or change, in the JAK2 gene is the major cause of PV.)", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Human T-cell leukemia virus type 2 ?"}, {"role": "assistant", "content": "How is human T-cell leukemia virus, type 2 diagnosed? Human T-cell leukemia virus, type 2 (HTLV-2) is usually diagnosed based on blood tests that detect antibodies to the virus. However, HTLV-2 is often never suspected or diagnosed since most people never develop any signs or symptoms of the infection. Diagnosis may occur during screening for blood donation, testing performed due to a family history of the infection, or a work-up for an HTLV-2-associated medical problems.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) geleophysic dysplasia ?"}, {"role": "assistant", "content": "Geleophysic dysplasia is an inherited condition that affects many parts of the body. It is characterized by abnormalities involving the bones, joints, heart, and skin. People with geleophysic dysplasia have short stature with very short hands and feet. Most also develop thickened skin and joint deformities called contractures, both of which significantly limit mobility. Affected individuals usually have a limited range of motion in their fingers, toes, wrists, and elbows. Additionally, contractures in the legs and hips cause many affected people to walk on their toes. The name of this condition, which comes from the Greek words for happy (\"gelios\") and nature (\"physis\"), is derived from the good-natured facial appearance seen in most affected individuals. The distinctive facial features associated with this condition include a round face with full cheeks, a small nose with upturned nostrils, a broad nasal bridge, a thin upper lip, upturned corners of the mouth, and a flat area between the upper lip and the nose (philtrum). Geleophysic dysplasia is also characterized by heart (cardiac) problems, particularly abnormalities of the cardiac valves. These valves normally control the flow of blood through the heart. In people with geleophysic dysplasia, the cardiac valves thicken, which impedes blood flow and increases blood pressure in the heart. Other heart problems have also been reported in people with geleophysic dysplasia; these include a narrowing of the artery from the heart to the lungs (pulmonary stenosis) and a hole between the two upper chambers of the heart (atrial septal defect). Other features of geleophysic dysplasia can include an enlarged liver (hepatomegaly) and recurrent respiratory and ear infections. In severe cases, a narrowing of the windpipe (tracheal stenosis) can cause serious breathing problems. As a result of heart and respiratory abnormalities, geleophysic dysplasia is often life-threatening in childhood. However, some affected people have lived into adulthood.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Dentinogenesis imperfecta inherited ?"}, {"role": "assistant", "content": "How do people inherit dentinogenesis imperfecta? Dentinogenesis imperfecta is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Mainzer-Saldino syndrome inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Parkinson disease ?"}, {"role": "assistant", "content": "What causes Parkinson disease? Parkinson disease occurs when the nerve cells in the brain that make dopamine, a chemical messenger which transmits signals within the brain to produce smooth physical movements, are slowly destroyed. Without dopamine, the nerve cells in the part of the brain known as the substantia nigra cannot properly send messages. This leads to progressive loss of muscle function. Exactly why these brain cells waste away is unknown. Recent studies have shown that people with Parkinson disease also experience damage to the nerve endings that produce the neurotransmitter norepinephrine. Norepinephrine, which is closely related to dopamine, is the main chemical messenger of the sympathetic nervous system, the part of the nervous system that controls the automatic functions of the body, including pulse and blood pressure. The loss of norepinephrine may explain some of the non-motor features seen in Parkinson disease, including fatigue and problems with blood pressure regulation. More detailed information about the cause of Parkinson disease is available through an information page developed by the National Institute of Neurological Disorders and Stroke (NINDS). Click here to view this information.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Sleep Apnea ?"}, {"role": "assistant", "content": "Sleep apnea is treated with lifestyle changes, mouthpieces, breathing devices, and surgery. Medicines typically aren't used to treat the condition.\n \nThe goals of treating sleep apnea are to:\n \nRestore regular breathing during sleep\n \nRelieve symptoms such as loud snoring and daytime sleepiness\n \nTreatment may improve other medical problems linked to sleep apnea, such as high blood pressure. Treatment also can reduce your risk for heart disease,stroke, and diabetes.\n \nIf you have sleep apnea, talk with your doctor or sleep specialist about the treatment options that will work best for you.\n \nLifestyle changes and/or mouthpieces may relieve mild sleep apnea. People who have moderate or severe sleep apnea may need breathing devices or surgery.\n \nIf you continue to have daytime sleepiness despite treatment, your doctor may ask whether you're getting enough sleep. (Adults should get at least 7 to 8 hours of sleep; children and teens need more. For more information, go to the Health Topics Sleep Deprivation and Deficiency article.)\n \nIf treatment and enough sleep don't relieve your daytime sleepiness, your doctor will consider other treatment options.\n \nLifestyle Changes\n \nIf you have mild sleep apnea, some changes in daily activities or habits might be all the treatment you need.\n \nAvoid alcohol and medicines that make you sleepy. They make it harder for your throat to stay open while you sleep.\n \nLose weight if you're overweight or obese. Even a little weight loss can improve your symptoms.\n \nSleep on your side instead of your back to help keep your throat open. You can sleep with special pillows or shirts that prevent you from sleeping on your back.\n \nKeep your nasal passages open at night with nasal sprays or allergy medicines, if needed. Talk with your doctor about whether these treatments might help you.\n \nIf you smoke, quit. Talk with your doctor about programs and products that can help you quit smoking.\n \nMouthpieces\n \nA mouthpiece, sometimes called an oral appliance, may help some people who have mild sleep apnea. Your doctor also may recommend a mouthpiece if you snore loudly but don't have sleep apnea.\n \nA dentist or orthodontist can make a custom-fit plastic mouthpiece for treating sleep apnea. (An orthodontist specializes in correcting teeth or jaw problems.) The mouthpiece will adjust your lower jaw and your tongue to help keep your airways open while you sleep.\n \nIf you use a mouthpiece, tell your doctor if you have discomfort or pain while using the device. You may need periodic office visits so your doctor can adjust your mouthpiece to fit better.\n \nBreathing Devices\n \nCPAP (continuous positive airway pressure) is the most common treatment for moderate to severe sleep apnea in adults. A CPAP machine uses a mask that fits over your mouth and nose, or just over your nose.\n \nThe machine gently blows air into your throat. The pressure from the air helps keep your airway open while you sleep.\n \nTreating sleep apnea may help you stop snoring. But not snoring doesn't mean that you no longer have sleep apnea or can stop using CPAP. Your sleep apnea will return if you stop using your CPAP machine or dont use it correctly.\n \nUsually, a technician will come to your home to bring the CPAP equipment. The technician will set up the CPAP machine and adjust it based on your doctor's prescription. After the initial setup, you may need to have the CPAP adjusted from time to time for the best results.\n \nCPAP treatment may cause side effects in some people. These side effects include a dry or stuffy nose, irritated skin on your face, dry mouth, and headaches. If your CPAP isn't adjusted properly, you may get stomach bloating and discomfort while wearing the mask.\n \nIf you're having trouble with CPAP side effects, work with your sleep specialist, his or her nursing staff, and the CPAP technician. Together, you can take steps to reduce the side effects.\n \nFor example, the CPAP settings or size/fit of the mask might need to be adjusted. Adding moisture to the air as it flows through the mask or using nasal spray can help relieve a dry, stuffy, or runny nose.\n \nThere are many types of CPAP machines and masks. Tell your doctor if you're not happy with the type you're using. He or she may suggest switching to a different type that might work better for you.\n \nPeople who have severe sleep apnea symptoms generally feel much better once they begin treatment with CPAP.\n \nSurgery\n \nSome people who have sleep apnea might benefit from surgery. The type of surgery and how well it works depend on the cause of the sleep apnea.\n \nSurgery is done to widen breathing passages. It usually involves shrinking, stiffening, or removing excess tissue in the mouth and throat or resetting the lower jaw.\n \nSurgery to shrink or stiffen excess tissue is done in a doctor's office or a hospital. Shrinking tissue may involve small shots or other treatments to the tissue. You may need a series of treatments to shrink the excess tissue. To stiffen excess tissue, the doctor makes a small cut in the tissue and inserts a piece of stiff plastic.\n \nSurgery to remove excess tissue is done in a hospital. You're given medicine to help you sleep during the surgery. After surgery, you may have throat pain that lasts for 1 to 2 weeks.\n \nSurgery to remove the tonsils, if they're blocking the airway, might be helpful for some children. Your child's doctor may suggest waiting some time to see whether these tissues shrink on their own. This is common as small children grow.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Chronic Myelomonocytic Leukemia ?"}, {"role": "assistant", "content": "Treatment of chronic myelomonocytic leukemia (CMML) may include the following: - Chemotherapy with one or more agents. - Stem cell transplant. - A clinical trial of a new treatment. Check the list of NCI-supported cancer clinical trials that are now accepting patients with chronic myelomonocytic leukemia. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Pancreatic Neuroendocrine Tumors (Islet Cell Tumors) ?"}, {"role": "assistant", "content": "Key Points\n - There are different types of treatment for patients with pancreatic NETs. - Six types of standard treatment are used: - Surgery - Chemotherapy - Hormone therapy - Hepatic arterial occlusion or chemoembolization - Targeted therapy - Supportive care - New types of treatment are being tested in clinical trials. - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed.\n \n \n There are different types of treatment for patients with pancreatic NETs.\n Different types of treatments are available for patients with pancreatic neuroendocrine tumors (NETs). Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Patients may want to think about taking part in a clinical trial. Some clinical trials are open only to patients who have not started treatment.\n \n \n Six types of standard treatment are used:\n Surgery An operation may be done to remove the tumor. One of the following types of surgery may be used: - Enucleation: Surgery to remove the tumor only. This may be done when cancer occurs in one place in the pancreas. - Pancreatoduodenectomy: A surgical procedure in which the head of the pancreas, the gallbladder, nearby lymph nodes and part of the stomach, small intestine, and bile duct are removed. Enough of the pancreas is left to make digestive juices and insulin. The organs removed during this procedure depend on the patient's condition. This is also called the Whipple procedure. - Distal pancreatectomy: Surgery to remove the body and tail of the pancreas. The spleen may also be removed. - Total gastrectomy: Surgery to remove the whole stomach. - Parietal cell vagotomy: Surgery to cut the nerve that causes stomach cells to make acid. - Liver resection: Surgery to remove part or all of the liver. - Radiofrequency ablation: The use of a special probe with tiny electrodes that kill cancer cells. Sometimes the probe is inserted directly through the skin and only local anesthesia is needed. In other cases, the probe is inserted through an incision in the abdomen. This is done in the hospital with general anesthesia. - Cryosurgical ablation: A procedure in which tissue is frozen to destroy abnormal cells. This is usually done with a special instrument that contains liquid nitrogen or liquid carbon dioxide. The instrument may be used during surgery or laparoscopy or inserted through the skin. This procedure is also called cryoablation. Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). Combination chemotherapy is the use of more than one anticancer drug. The way the chemotherapy is given depends on the type of the cancer being treated. Hormone therapy Hormone therapy is a cancer treatment that removes hormones or blocks their action and stops cancer cells from growing. Hormones are substances made by glands in the body and circulated in the bloodstream. Some hormones can cause certain cancers to grow. If tests show that the cancer cells have places where hormones can attach (receptors), drugs, surgery, or radiation therapy is used to reduce the production of hormones or block them from working. Hepatic arterial occlusion or chemoembolization Hepatic arterial occlusion uses drugs, small particles, or other agents to block or reduce the flow of blood to the liver through the hepatic artery (the major blood vessel that carries blood to the liver). This is done to kill cancer cells growing in the liver. The tumor is prevented from getting the oxygen and nutrients it needs to grow. The liver continues to receive blood from the hepatic portal vein, which carries blood from the stomach and intestine. Chemotherapy delivered during hepatic arterial occlusion is called chemoembolization. The anticancer drug is injected into the hepatic artery through a catheter (thin tube). The drug is mixed with the substance that blocks the artery and cuts off blood flow to the tumor. Most of the anticancer drug is trapped near the tumor and only a small amount of the drug reaches other parts of the body. The blockage may be temporary or permanent, depending on the substance used to block the artery. Targeted therapy Targeted therapy is a type of treatment that uses drugs or other substances to identify and attack specific cancer cells without harming normal cells. Certain types of targeted therapies are being studied in the treatment of pancreatic NETs. Supportive care Supportive care is given to lessen the problems caused by the disease or its treatment. Supportive care for pancreatic NETs may include treatment for the following: - Stomach ulcers may be treated with drug therapy such as: - Proton pump inhibitor drugs such as omeprazole, lansoprazole, or pantoprazole. - Histamine blocking drugs such as cimetidine, ranitidine, or famotidine. - Somatostatin-type drugs such as octreotide. - Diarrhea may be treated with: - Intravenous (IV) fluids with electrolytes such as potassium or chloride. - Somatostatin-type drugs such as octreotide. - Low blood sugar may be treated by having small, frequent meals or with drug therapy to maintain a normal blood sugar level. - High blood sugar may be treated with drugs taken by mouth or insulin by injection.\n \n \n New types of treatment are being tested in clinical trials.\n Information about clinical trials is available from the NCI website.\n \n \n Patients may want to think about taking part in a clinical trial.\n For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward.\n \n \n Patients can enter clinical trials before, during, or after starting their cancer treatment.\n Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.\n \n \n Follow-up tests may be needed.\n Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups.\n \n\t\t \n\t\t Treatment Options for Pancreatic Neuroendocrine Tumors\n\t\t \n\t\t \n\t\t Gastrinoma\n\t\t Treatment of gastrinoma may include supportive care and the following: - For symptoms caused by too much stomach acid, treatment may be a drug that decreases the amount of acid made by the stomach. - For a single tumor in the head of the pancreas: - Surgery to remove the tumor. - Surgery to cut the nerve that causes stomach cells to make acid and treatment with a drug that decreases stomach acid. - Surgery to remove the whole stomach (rare). - For a single tumor in the body or tail of the pancreas, treatment is usually surgery to remove the body or tail of the pancreas. - For several tumors in the pancreas, treatment is usually surgery to remove the body or tail of the pancreas. If tumor remains after surgery, treatment may include either: - Surgery to cut the nerve that causes stomach cells to make acid and treatment with a drug that decreases stomach acid; or - Surgery to remove the whole stomach (rare). - For one or more tumors in the duodenum (the part of the small intestine that connects to the stomach), treatment is usually pancreatoduodenectomy (surgery to remove the head of the pancreas, the gallbladder, nearby lymph nodes and part of the stomach, small intestine, and bile duct). - If no tumor is found, treatment may include the following: - Surgery to cut the nerve that causes stomach cells to make acid and treatment with a drug that decreases stomach acid. - Surgery to remove the whole stomach (rare). - If the cancer has spread to the liver, treatment may include: - Surgery to remove part or all of the liver. - Radiofrequency ablation or cryosurgical ablation. - Chemoembolization. - If cancer has spread to other parts of the body or does not get better with surgery or drugs to decrease stomach acid, treatment may include: - Chemotherapy. - Hormone therapy. - If the cancer mostly affects the liver and the patient has severe symptoms from hormones or from the size of tumor, treatment may include: - Hepatic arterial occlusion, with or without systemic chemotherapy. - Chemoembolization, with or without systemic chemotherapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with gastrinoma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.\n\t\t \n\t\t \n\t\t Insulinoma\n\t\t Treatment of insulinoma may include the following: - For one small tumor in the head or tail of the pancreas, treatment is usually surgery to remove the tumor. - For one large tumor in the head of the pancreas that cannot be removed by surgery, treatment is usually pancreatoduodenectomy (surgery to remove the head of the pancreas, the gallbladder, nearby lymph nodes and part of the stomach, small intestine, and bile duct). - For one large tumor in the body or tail of the pancreas, treatment is usually a distal pancreatectomy (surgery to remove the body and tail of the pancreas). - For more than one tumor in the pancreas, treatment is usually surgery to remove any tumors in the head of the pancreas and the body and tail of the pancreas. - For tumors that cannot be removed by surgery, treatment may include the following: - Combination chemotherapy. - Palliative drug therapy to decrease the amount of insulin made by the pancreas. - Hormone therapy. - Radiofrequency ablation or cryosurgical ablation. - For cancer that has spread to lymph nodes or other parts of the body, treatment may include the following: - Surgery to remove the cancer. - Radiofrequency ablation or cryosurgical ablation, if the cancer cannot be removed by surgery. - If the cancer mostly affects the liver and the patient has severe symptoms from hormones or from the size of tumor, treatment may include: - Hepatic arterial occlusion, with or without systemic chemotherapy. - Chemoembolization, with or without systemic chemotherapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with insulinoma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.\n\t\t \n\t\t \n\t\t Glucagonoma\n\t\t Treatment may include the following: - For one small tumor in the head or tail of the pancreas, treatment is usually surgery to remove the tumor. - For one large tumor in the head of the pancreas that cannot be removed by surgery, treatment is usually pancreatoduodenectomy (surgery to remove the head of the pancreas, the gallbladder, nearby lymph nodes and part of the stomach, small intestine, and bile duct). - For more than one tumor in the pancreas, treatment is usually surgery to remove the tumor or surgery to remove the body and tail of the pancreas. - For tumors that cannot be removed by surgery, treatment may include the following: - Combination chemotherapy. - Hormone therapy. - Radiofrequency ablation or cryosurgical ablation. - For cancer that has spread to lymph nodes or other parts of the body, treatment may include the following: - Surgery to remove the cancer. - Radiofrequency ablation or cryosurgical ablation, if the cancer cannot be removed by surgery. - If the cancer mostly affects the liver and the patient has severe symptoms from hormones or from the size of tumor, treatment may include: - Hepatic arterial occlusion, with or without systemic chemotherapy. - Chemoembolization, with or without systemic chemotherapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with glucagonoma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.\n\t\t \n\t\t \n\t\t Other Pancreatic Neuroendocrine Tumors (Islet Cell Tumors)\n\t\t For VIPoma, treatment may include the following: - Fluids and hormone therapy to replace fluids and electrolytes that have been lost from the body. - Surgery to remove the tumor and nearby lymph nodes. - Surgery to remove as much of the tumor as possible when the tumor cannot be completely removed or has spread to distant parts of the body. This is palliative therapy to relieve symptoms and improve the quality of life. - For tumors that have spread to lymph nodes or other parts of the body, treatment may include the following: - Surgery to remove the tumor. - Radiofrequency ablation or cryosurgical ablation, if the tumor cannot be removed by surgery. - For tumors that continue to grow during treatment or have spread to other parts of the body, treatment may include the following: - Chemotherapy. - Targeted therapy. For somatostatinoma, treatment may include the following: - Surgery to remove the tumor. - For cancer that has spread to distant parts of the body, surgery to remove as much of the cancer as possible to relieve symptoms and improve quality of life. - For tumors that continue to grow during treatment or have spread to other parts of the body, treatment may include the following: - Chemotherapy. - Targeted therapy. Treatment of other types of pancreatic neuroendocrine tumors (NETs) may include the following: - Surgery to remove the tumor. - For cancer that has spread to distant parts of the body, surgery to remove as much of the cancer as possible or hormone therapy to relieve symptoms and improve quality of life. - For tumors that continue to grow during treatment or have spread to other parts of the body, treatment may include the following: - Chemotherapy. - Targeted therapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with islet cell tumor. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.\n\t\t \n\t\t \n\t\t Recurrent or Progressive Pancreatic Neuroendocrine Tumors (Islet Cell Tumors)\n\t\t Treatment of pancreatic neuroendocrine tumors (NETs) that continue to grow during treatment or recur (come back) may include the following: - Surgery to remove the tumor. - Chemotherapy. - Hormone therapy. - Targeted therapy. - For liver metastases: - Regional chemotherapy. - Hepatic arterial occlusion or chemoembolization, with or without systemic chemotherapy. - A clinical trial of a new therapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with recurrent islet cell carcinoma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Deep Vein Thrombosis ?"}, {"role": "assistant", "content": "Deep vein thrombosis, or DVT, is a blood clot that forms in a vein deep in the body. Most deep vein clots occur in the lower leg or thigh. If the vein swells, the condition is called thrombophlebitis. A deep vein thrombosis can break loose and cause a serious problem in the lung, called a pulmonary embolism. Sitting still for a long time can make you more likely to get a DVT. Some medicines and disorders that increase your risk for blood clots can also lead to DVTs. Common symptoms are - Warmth and tenderness over the vein - Pain or swelling in the part of the body affected - Skin redness Treatment includes medicines to ease pain and inflammation, break up clots and keep new clots from forming. Keeping the affected area raised and applying moist heat can also help. If you are taking a long car or plane trip, take a break, walk or stretch your legs and drink plenty of liquids.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Northern epilepsy ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of Northern epilepsy: - Gene Review: Gene Review: Neuronal Ceroid-Lipofuscinoses - Genetic Testing Registry: Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is blepharophimosis, ptosis, and epicanthus inversus syndrome inherited ?"}, {"role": "assistant", "content": "This condition is typically inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Gillespie syndrome inherited ?"}, {"role": "assistant", "content": "In some cases, including those in which Gillespie syndrome is caused by PAX6 gene mutations, the condition occurs in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Some affected individuals inherit the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family. Gillespie syndrome can also be inherited in an autosomal recessive pattern, which means both copies of a gene in each cell have mutations. The gene or genes involved in these cases are unknown. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Infertility ?"}, {"role": "assistant", "content": "Infertility means not being able to become pregnant after a year of trying. If a woman can get pregnant but keeps having miscarriages or stillbirths, that's also called infertility. Infertility is fairly common. After one year of having unprotected sex, about 15 percent of couples are unable to get pregnant. About a third of the time, infertility can be traced to the woman. In another third of cases, it is because of the man. The rest of the time, it is because of both partners or no cause can be found. There are treatments that are specifically for men or for women. Some involve both partners. Drugs, assisted reproductive technology, and surgery are common treatments. Happily, many couples treated for infertility go on to have babies. NIH: National Institute of Child Health and Human Development", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Pigmented villonodular synovitis ?"}, {"role": "assistant", "content": "Pigmented villonodular synovitis (PVNS) is a disease in which the tissue lining the joints and tendons in the body (synovium) grows abnormally. It is characterized by a noncancerous mass or tumor. There are two types of PVNS: the local or nodular form (where the tumor involves the tendons that support the joint, or in one area of the joint) and the diffuse form (where the entire lining of the joint is involved). Symptoms might include: pain, limitation of movement, and locking of the joint. In some cases, the normal joint structure can be destroyed. The knee is most commonly affected by this condition, though it can occur in other joints such as the hip, shoulder, elbow, ankle, wrist, and rarely the jaw. The average age of diagnosis for this condition is 35 years. The cause of PVNS is grossly unknown. Treatment involves surgery to remove the tumor and damaged portions of the synovium.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "what research (or clinical trials) is being done for Childhood Acute Lymphoblastic Leukemia ?"}, {"role": "assistant", "content": "New types of treatment are being tested in clinical trials.\n This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. Chimeric antigen receptor (CAR) T-cell therapy CAR T-cell therapy is a type of immunotherapy that changes the patient's T cells (a type of immune system cell) so they will attack certain proteins on the surface of cancer cells. T cells are taken from the patient and special receptors are added to their surface in the laboratory. The changed cells are called chimeric antigen receptor (CAR) T cells. The CAR T cells are grown in the laboratory and given to the patient by infusion. The CAR T cells multiply in the patient's blood and attack cancer cells. CAR T-cell therapy is being studied in the treatment of childhood ALL that has relapsed (come back) a second time.\n \n \n Patients may want to think about taking part in a clinical trial.\n For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward.\n \n \n Patients can enter clinical trials before, during, or after starting their cancer treatment.\n Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Noonan-like syndrome with loose anagen hair ?"}, {"role": "assistant", "content": "Noonan-like syndrome with loose anagen hair is characterized by facial features suggestive of Noonan syndrome (macrocephaly, high forehead, wide-set eyes or hypertelorism, palpebral ptosis, and low-set and posteriorly rotated ears) along with hair that resembles loose anagen hair syndrome (pluckable, sparse, thin and slow-growing). Other features include frequent congenital heart defects, distinctive skin features (darkly pigmented skin with eczema or ichthyosis), short stature which may be associated with a growth hormone deficiency, and developmental delays. The condition is caused by mutations in the SHOC2 gene. It follows an autosomal dominant pattern of inheritance.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is the outlook for Hairy Cell Leukemia ?"}, {"role": "assistant", "content": "Certain factors affect treatment options and prognosis (chance of recovery). The treatment options may depend on the following: - The number of hairy (leukemia) cells and healthy blood cells in the blood and bone marrow. - Whether the spleen is swollen. - Whether there are signs or symptoms of leukemia, such as infection. - Whether the leukemia has recurred (come back) after previous treatment. The prognosis (chance of recovery) depends on the following: - Whether the hairy cell leukemia does not grow or grows so slowly it does not need treatment. - Whether the hairy cell leukemia responds to treatment. Treatment often results in a long-lasting remission (a period during which some or all of the signs and symptoms of the leukemia are gone). If the leukemia returns after it has been in remission, retreatment often causes another remission.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Pituitary Tumors ?"}, {"role": "assistant", "content": "Your pituitary gland is a pea-sized gland at the base of your brain. The pituitary is the \"master control gland\" - it makes hormones that affect growth and the functions of other glands in the body. Pituitary tumors are common, but often they don't cause health problems. Most people with pituitary tumors never even know they have them. The most common type of pituitary tumor produces hormones and disrupts the balance of hormones in your body. This can cause endocrine diseases such as Cushing's syndrome and hyperthyroidism. Symptoms of pituitary tumors include - Headaches - Vision problems - Nausea and vomiting - Problems caused by the production of too many hormones Pituitary tumors are usually curable. Treatment is often surgery to remove the tumor. Other options include medicines, radiation therapy, and chemotherapy.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) oral-facial-digital syndrome ?"}, {"role": "assistant", "content": "Oral-facial-digital syndrome is actually a group of related conditions that affect the development of the oral cavity (the mouth and teeth), facial features, and digits (fingers and toes). Researchers have identified at least 13 potential forms of oral-facial-digital syndrome. The different types are classified by their patterns of signs and symptoms. However, the features of the various types overlap significantly, and some types are not well defined. The classification system for oral-facial-digital syndrome continues to evolve as researchers find more affected individuals and learn more about this disorder. The signs and symptoms of oral-facial-digital syndrome vary widely. However, most forms of this disorder involve problems with development of the oral cavity, facial features, and digits. Most forms are also associated with brain abnormalities and some degree of intellectual disability. Abnormalities of the oral cavity that occur in many types of oral-facial-digital syndrome include a split (cleft) in the tongue, a tongue with an unusual lobed shape, and the growth of noncancerous tumors or nodules on the tongue. Affected individuals may also have extra, missing, or defective teeth. Another common feature is an opening in the roof of the mouth (a cleft palate). Some people with oral-facial-digital syndrome have bands of extra tissue (called hyperplastic frenula) that abnormally attach the lip to the gums. Distinctive facial features often associated with oral-facial-digital syndrome include a split in the lip (a cleft lip); a wide nose with a broad, flat nasal bridge; and widely spaced eyes (hypertelorism). Abnormalities of the digits can affect both the fingers and the toes in people with oral-facial-digital syndrome. These abnormalities include fusion of certain fingers or toes (syndactyly), digits that are shorter than usual (brachydactyly), or digits that are unusually curved (clinodactyly). The presence of extra digits (polydactyly) is also seen in most forms of oral-facial-digital syndrome. Other features occur in only one or a few types of oral-facial digital syndrome. These features help distinguish the different forms of the disorder. For example, the most common form of oral-facial-digital syndrome, type I, is associated with polycystic kidney disease. This kidney disease is characterized by the growth of fluid-filled sacs (cysts) that interfere with the kidneys' ability to filter waste products from the blood. Other forms of oral-facial-digital syndrome are characterized by neurological problems, particular changes in the structure of the brain, bone abnormalities, vision loss, and heart defects.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Barth syndrome ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of Barth syndrome: - Cleveland Clinic: Dilated Cardiomyopathy - Gene Review: Gene Review: Barth Syndrome - Genetic Testing Registry: 3-Methylglutaconic aciduria type 2 - Johns Hopkins Children's Center: Neutrophil Disorders - MedlinePlus Encyclopedia: Neutropenia--Infants These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Factor V Leiden thrombophilia ?"}, {"role": "assistant", "content": "How might factor V Leiden be treated? The management of individuals with factor V Leiden depends on the clinical circumstances. People with factor V Leiden who have had a deep venous thrombosis (DVT) or pulmonary embolism (PE) are usually treated with blood thinners, or anticoagulants. Anticoagulants such as heparin and warfarin are given for varying amounts of time depending on the person's situation. It is not usually recommended that people with factor V Leiden be treated lifelong with anticoagulants if they have had only one DVT or PE, unless there are additional risk factors present. Having had a DVT or PE in the past increases a person's risk for developing another one in the future, but having factor V Leiden does not seem to add to the risk of having a second clot. In general, individuals who have factor V Leiden but have never had a blood clot are not routinely treated with an anticoagulant. Rather, these individuals are counseled about reducing or eliminating other factors that may add to one's risk of developing a clot in the future. In addition, these individuals may require temporary treatment with an anticoagulant during periods of particularly high risk, such as major surgery. Factor V Leiden increases the risk of developing a DVT during pregnancy by about seven-fold. Women with factor V Leiden who are planning pregnancy should discuss this with their obstetrician and/or hematologist. Most women with factor V Leiden have normal pregnancies and only require close follow-up during pregnancy. For those with a history of DVT or PE, treatment with an anticoagulant during a subsequent pregnancy can prevent recurrent problems.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Allan-Herndon-Dudley syndrome inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an X-linked recessive pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation must be present in both copies of the gene to cause the disorder. Males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. In X-linked recessive inheritance, a female with one altered copy of the gene in each cell is called a carrier. She can pass on the mutated gene, but usually does not experience signs and symptoms of the disorder. Carriers of SLC16A2 mutations have normal intelligence and do not experience problems with movement. Some carriers have been diagnosed with thyroid disease, a condition which is relatively common in the general population. It is unclear whether thyroid disease is related to SLC16A2 gene mutations in these cases.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Serpiginous choroiditis ?"}, {"role": "assistant", "content": "What causes serpiginous choroiditis? The cause of serpiginous choroiditis is unknown. Speculation exists regarding an association with exposure to various toxic compounds and/or infectious agents. Some researchers believe the condition is related to an organ-specific autoimmune inflammatory process.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Thiamine responsive megaloblastic anemia syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Thiamine responsive megaloblastic anemia syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Thiamine responsive megaloblastic anemia syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Macrocytic anemia 90% Sensorineural hearing impairment 90% Type I diabetes mellitus 90% Optic atrophy 50% Thrombocytopenia 50% Abnormality of retinal pigmentation 7.5% Cerebral ischemia 7.5% Congestive heart failure 7.5% Short stature 7.5% Sudden cardiac death 7.5% Visual impairment 7.5% Ataxia 5% Cardiomyopathy 5% Cryptorchidism 5% Gastroesophageal reflux 5% Seizures 5% Situs inversus totalis 5% Stroke 5% Abnormality of the skin - Aminoaciduria - Arrhythmia - Atria septal defect - Autosomal recessive inheritance - Cone/cone-rod dystrophy - Congenital septal defect - Diabetes mellitus - Hoarse voice - Nystagmus - Retinal degeneration - Sideroblastic anemia - Thiamine-responsive megaloblastic anemia - Ventricular septal defect - Visual loss - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Hashimoto's encephalitis ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Hashimoto's encephalitis? The symptoms of Hashimoto's encephalitis can vary among affected people. They most often include sudden or subacute onset of confusion with alteration of consciousness. Some affected people have multiple, recurrent episodes of neurological deficits with cognitive dysfunction. Others experience a more progressive course characterized by slowly progressive cognitive impairment with dementia, confusion, hallucinations, or sleepiness. In some cases, rapid deterioration to coma can occur. In addition to confusion and mental status changes, symptoms may include seizures and myoclonus (muscle jerking) or tremor. Psychosis, including visual hallucinations and paranoid delusions, has also been reported.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Scleroderma ?"}, {"role": "assistant", "content": "Scleroderma is an autoimmune disorder that involves changes in the skin, blood vessels, muscles, and internal organs. There are two main types: localized scleroderma, which affects only the skin; and systemic scleroderma, which affects the blood vessels and internal organs, as well as the skin. These two main types also have different sub-types. Localized scleroderma can be divided in: Linear scleroderma (en coup de sabre) Morphea (localized, generalized, guttata and deep). Systemic scleroderma is subdivided in: Diffuse cutaneous systemic sclerosis Limited cutaneous systemic sclerosis (which includes CREST syndrome) Limited Systemic Sclerosis (or systemic sclerosis sine scleroderm). There are also cases of environmentally-induced scleroderma and cases where scleroderma is part of other rheumatic disorders, like rheumatoid arthritis, lupus or Sjogren syndrome. The underlying cause of scleroderma is currently unknown; however, some scientists suspect that it may be related to a buildup of collagen in the skin and other organs due to an abnormal immune system response. There is no cure, but various treatments can relieve symptoms.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Who is at risk for Acanthamoeba - Granulomatous Amebic Encephalitis (GAE); Keratitis? ?"}, {"role": "assistant", "content": "Acanthamoeba keratitis\n \n \nAcanthamoeba keratitis is a rare disease that can affect anyone, but is most common in individuals who wear contact lenses. In the United States, an estimated 85% of cases occur in contact lens users. The incidence of the disease in developed countries is approximately one to 33 cases per million contact lens wearers.\n \nFor people who wear contact lenses, certain practices can increase the risk of getting Acanthamoeba keratitis:\n \n - Storing and handling lenses improperly\n - Disinfecting lenses improperly (such as using tap water or topping off solutions when cleaning the lenses or lens case)\n - Swimming, using a hot tub, or showering while wearing lenses\n - Coming into contact with contaminated water\n - Having a history of trauma to the cornea\n \n \nContact lens wearers who practice proper lens care and non-contact lens wearers can still develop the infection. For additional information on contact lens care and prevention of Acanthamoeba keratitis visit CDC\u2019s web page on Prevention and Control.\n \nThere have been no reports of Acanthamoeba keratitis being spread from one person to another.\n Granulomatous Amebic Encephalitis (GAE)\n \nGranulomatous Amebic Encephalitis (GAE) and disseminated infection are very rare forms of Acanthamoeba infection and primarily affect people with compromised immune systems. While unusual, disseminated infection can also affect healthy children and adults. Conditions that may increase a patient\u2019s risk for GAE and disseminated infection include:\n \n - AIDS\n - Organ/Tissue transplant\n - Steroids or excessive use of antibiotics\n - Diabetes Mellitus\n - Cancer\n - Disorders in which white blood cells in the lymphatic tissue are over-produced or abnormal\n - Disorders in which blood cells or blood clotting mechanisms do not function properly or are abnormal\n - Liver cirrhosis\n - Lupus", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for adenylosuccinate lyase deficiency ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of adenylosuccinate lyase deficiency: - Genetic Testing Registry: Adenylosuccinate lyase deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Conotruncal heart malformations ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Conotruncal heart malformations? The Human Phenotype Ontology provides the following list of signs and symptoms for Conotruncal heart malformations. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Tetralogy of Fallot 90% Transposition of the great arteries 90% Abnormality of the aorta 50% Abnormality of the pulmonary artery 50% Patent ductus arteriosus 50% Hypertelorism 5% Abnormality of metabolism/homeostasis - Autosomal recessive inheritance - Broad hallux - Coarctation of aorta - Complete atrioventricular canal defect - Double outlet right ventricle - Postaxial polydactyly - Truncus arteriosus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Lenz microphthalmia syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Lenz microphthalmia syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Lenz microphthalmia syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia affecting the eye 90% Abnormality of dental morphology 50% Abnormality of the ureter 50% Camptodactyly of finger 50% Chorioretinal coloboma 50% Clinodactyly of the 5th finger 50% Cognitive impairment 50% Cryptorchidism 50% Displacement of the external urethral meatus 50% External ear malformation 50% Finger syndactyly 50% Glaucoma 50% Iris coloboma 50% Low-set, posteriorly rotated ears 50% Microcephaly 50% Microcornea 50% Optic nerve coloboma 50% Oral cleft 50% Preaxial hand polydactyly 50% Renal hypoplasia/aplasia 50% Short stature 50% Abnormality of the clavicle 7.5% Abnormality of the palpebral fissures 7.5% Abnormality of the shoulder 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Cataract 7.5% Delayed eruption of teeth 7.5% Hearing impairment 7.5% Hyperlordosis 7.5% Kyphosis 7.5% Long thorax 7.5% Neurological speech impairment 7.5% Nystagmus 7.5% Preauricular skin tag 7.5% Scoliosis 7.5% Seizures 7.5% Self-injurious behavior 7.5% Visual impairment 7.5% Webbed neck 7.5% Autistic behavior 5% Pulmonary hypoplasia 5% Abnormal palmar dermatoglyphics - Abnormality of the pinna - Aganglionic megacolon - Agenesis of maxillary lateral incisor - Aggressive behavior - Anal atresia - Anophthalmia - Bicuspid aortic valve - Blindness - Camptodactyly - Ciliary body coloboma - Cleft upper lip - Clinodactyly - Dental crowding - Down-sloping shoulders - Growth delay - High palate - Hydroureter - Hypospadias - Intellectual disability - Joint contracture of the hand - Kyphoscoliosis - Low-set ears - Lumbar hyperlordosis - Microphthalmia - Motor delay - Muscular hypotonia - Narrow chest - Overfolded helix - Pectus excavatum - Ptosis - Pyloric stenosis - Radial deviation of finger - Rectal prolapse - Recurrent otitis media - Renal hypoplasia - Self-mutilation - Short clavicles - Spastic diplegia - Syndactyly - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "what research (or clinical trials) is being done for Craniosynostosis ?"}, {"role": "assistant", "content": "The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system, and to use that knowledge to reduce the burden of neurological disease. The NINDS conducts and supports a wide range of studies that explore the complex mechanisms of brain development. The knowledge gained from these fundamental studies provides the foundation for understanding how this process can change and offers hope for new ways to treat and prevent birth defects that can prevent normal brain development, such as craniosynostosis.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by Char syndrome ?"}, {"role": "assistant", "content": "Char syndrome is rare, although its exact incidence is unknown. Only a few families with this condition have been identified worldwide.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by familial hemophagocytic lymphohistiocytosis ?"}, {"role": "assistant", "content": "Familial hemophagocytic lymphohistiocytosis occurs in approximately 1 in 50,000 individuals worldwide.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by Werner syndrome ?"}, {"role": "assistant", "content": "Werner syndrome is estimated to affect 1 in 200,000 individuals in the United States. This syndrome occurs more often in Japan, affecting 1 in 20,000 to 1 in 40,000 people.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Biliary Atresia ?"}, {"role": "assistant", "content": "Biliary atresia is a life-threatening condition in infants in which the bile ducts inside or outside the liver do not have normal openings.\n \nBile ducts in the liver, also called hepatic ducts, are tubes that carry bile from the liver to the gallbladder for storage and to the small intestine for use in digestion. Bile is a fluid made by the liver that serves two main functions: carrying toxins and waste products out of the body and helping the body digest fats and absorb the fat-soluble vitamins A, D, E, and K.\n \nWith biliary atresia, bile becomes trapped, builds up, and damages the liver. The damage leads to scarring, loss of liver tissue, and cirrhosis. Cirrhosis is a chronic, or long lasting, liver condition caused by scar tissue and cell damage that makes it hard for the liver to remove toxins from the blood. These toxins build up in the blood and the liver slowly deteriorates and malfunctions. Without treatment, the liver eventually fails and the infant needs a liver transplant to stay alive.\n \nThe two types of biliary atresia are fetal and perinatal. Fetal biliary atresia appears while the baby is in the womb. Perinatal biliary atresia is much more common and does not become evident until 2 to 4 weeks after birth. Some infants, particularly those with the fetal form, also have birth defects in the heart, spleen, or intestines.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Lip and Oral Cavity Cancer ?"}, {"role": "assistant", "content": "Signs of lip and oral cavity cancer include a sore or lump on the lips or in the mouth. These and other signs and symptoms may be caused by lip and oral cavity cancer or by other conditions. Check with your doctor if you have any of the following: - A sore on the lip or in the mouth that does not heal. - A lump or thickening on the lips or gums or in the mouth. - A white or red patch on the gums, tongue, or lining of the mouth. - Bleeding, pain, or numbness in the lip or mouth. - Change in voice. - Loose teeth or dentures that no longer fit well. - Trouble chewing or swallowing or moving the tongue or jaw. - Swelling of jaw. - Sore throat or feeling that something is caught in the throat. Lip and oral cavity cancer may not have any symptoms and is sometimes found during a regular dental exam.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Beckwith-Wiedemann syndrome ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of Beckwith-Wiedemann syndrome: - Gene Review: Gene Review: Beckwith-Wiedemann Syndrome - Genetic Testing Registry: Beckwith-Wiedemann syndrome - MedlinePlus Encyclopedia: Beckwith-Wiedemann syndrome - MedlinePlus Encyclopedia: Macroglossia - MedlinePlus Encyclopedia: Omphalocele These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of 21-hydroxylase deficiency ?"}, {"role": "assistant", "content": "What are the signs and symptoms of 21-hydroxylase deficiency? Symptoms can vary greatly from patient to patient with 21-hydroxylase deficiency, as a result distinct forms of this deficiency have been recognized. Three common forms include classical salt wasting, simple virilizing, and nonclassical. The Human Phenotype Ontology provides the following list of signs and symptoms for 21-hydroxylase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the thorax - Adrenal hyperplasia - Adrenogenital syndrome - Autosomal recessive inheritance - Fever - Growth abnormality - Gynecomastia - Hypertension - Hypoglycemia - Hypospadias - Renal salt wasting - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. What are the symptoms of classical salt wasting 21-hydroxylase-deficient congenital adrenal hyperplasia? The classical salt wasting form of 21-hydroxylase-deficient is a severe form of 21-hydroxylase deficiency. People with this condition have no 21-hydroxylase function.Within the first week of life newborns may have life threatening salt-wasting crises and low blood pressure. Females are often born with ambiguous genitalia. A close look at the hormone levels in patients with this form of 21-hydroxylase deficiency reveals an increased level of testosterone and rennin, and reduced levels of cortisol and aldosterone. Levels of 17-hydroxyprogesterone is over 5,000 nmol/L. What are the symptoms of simple virilizing 21-hydroxylase-deficient congenital adrenal hyperplasia? Patients with simple virilizing 21-hydroxylase-deficient congenital adrenal hyperplasia have some functioning 21-hydroxylase (about 1%). Females may be born with clitoral enlargement, labial fusion, and sexual ambiguity. Males may present in early childhood with signs of precocious puberty such as very early sexual development, pubic hair development, and/or growth acceleration. Untreated patients have a shorter than average adult height. A close look at hormone levels in patients with simple virilizing 21-hydroxylase deficiency reveal an increased level of testosterone, reduced level of cortisol, normal or increased level of renin, and normal levels of aldosterone. Levels of 17-Hydroxyprogesterone are 2500 to 5000 nmol/L. What are the symptoms of nonclassical 21-hydroxylase-deficient congenital adrenal hyperplasia? People with nonclassical or late-onset 21-hydroxylase-deficient congenital adrenal hyperplasia have 20% to 50% of 21-Hydroxylase activity. They may present in childhood or adulthood with early pubic hair growth or with symptoms of polycystic ovary syndrome. In females symptoms may include excessive hair growth, absent periods, infertility, androgenic alopecia, masculinized genitalia, and acne. Height is likely to be normal. A close look at the hormone levels in patients with the nonclassical type reveal a variably increased level of testosterone and normal levels of aldosterone, renin, and cortisol. Levels of 17-Hydroxyprogesterone are 500 to 2500 nmol/L.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Cataract microcornea syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Cataract microcornea syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Cataract microcornea syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cataract 90% Microcornea 90% Myopia 50% Corneal dystrophy 7.5% Iris coloboma 7.5% Nystagmus 7.5% Opacification of the corneal stroma 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Eisenmenger syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Eisenmenger syndrome? Symptoms of Eisenmenger include shortness of breath, chest pain, feeling tired or dizzy, fainting, abnormal heart rhythm (arrhythmia), stroke, coughing up blood, swelling of joints from excess uric acid (gout) and, bluish lips, fingers, toes, and skin (cyanosis). Eisenmenger syndrome usually develops before a child reaches puberty but can also develop in young adulthood.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to acromicric dysplasia ?"}, {"role": "assistant", "content": "Acromicric dysplasia is caused by mutations in the FBN1 gene, which provides instructions for making a large protein called fibrillin-1. This protein is transported out of cells into the extracellular matrix, which is an intricate lattice of proteins and other molecules that forms in the spaces between cells. In this matrix, molecules of fibrillin-1 attach (bind) to each other and to other proteins to form threadlike filaments called microfibrils. The microfibrils become part of the fibers that provide strength and flexibility to connective tissues, which support the bones, skin, and other tissues and organs. Additionally, microfibrils store molecules called growth factors, including transforming growth factor beta (TGF-), and release them at various times to control the growth and repair of tissues and organs throughout the body. Most of the FBN1 gene mutations that cause acromicric dysplasia change single protein building blocks in the fibrillin-1 protein. The mutations result in a reduction and disorganization of the microfibrils. Without enough normal microfibrils to store TGF-, the growth factor is abnormally active. These effects likely contribute to the physical abnormalities that occur in acromicric dysplasia, but the mechanisms are unclear.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Dystonia 7, torsion ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Dystonia 7, torsion? The Human Phenotype Ontology provides the following list of signs and symptoms for Dystonia 7, torsion. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Blepharospasm - Clumsiness - Dysphonia - Hand tremor - Oromandibular dystonia - Skeletal muscle hypertrophy - Torsion dystonia - Torticollis - Writer's cramp - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Alpha-1 antitrypsin deficiency ?"}, {"role": "assistant", "content": "How might alpha-1 antitrypsin deficiency be treated? Treatment of alpha-1 antitrypsin deficiency (AATD) depends on the symptoms and severity in each person. COPD and other related lung diseases are typically treated with standard therapy. Bronchodilators and inhaled steroids can help open the airways and make breathing easier. Intravenous augmentation therapy (regular infusion of purified, human AAT to increase AAT concentrations) has been recommended for people with established fixed airflow obstruction (determined by a specific lung function test). This therapy raises the level of the AAT protein in the blood and lungs. Lung transplantation may be an appropriate option for people with end-stage lung disease. Liver transplantation is the definitive treatment for advanced liver disease. When present, panniculitis may resolve on its own or after dapsone or doxycycline therapy. When this therapy does not help, it has responded to intravenous augmentation therapy in higher than usual doses. All people with severe AATD should have pulmonary function tests every 6 to 12 months. Those with ATT serum concentrations 10% to 20% of normal should have periodic evaluation of liver function to detect liver disease. People with established liver disease should have periodic ultrasounds of the liver to monitor for fibrotic changes and liver cancer (hepatocellular carcinoma). Yearly vaccinations against influenza and pneumococcus are recommended to lessen the progression of lung disease. Vaccination against hepatitis A and B is recommended to lessen the risk of liver disease. People with AATD should avoid smoking and occupations with exposure to environmental pollutants. Parents, older and younger siblings, and children of a person with severe AATD should be evaluated to identify as early as possible those who would benefit from treatment and preventive measures.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by Paget disease of bone ?"}, {"role": "assistant", "content": "Classic Paget disease of bone occurs in approximately 1 percent of people older than 40 in the United States. Scientists estimate that about 1 million people in this country have the disease. It is most common in people of western European heritage. Early-onset Paget disease of bone is much rarer. This form of the disorder has been reported in only a few families.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Smith McCort dysplasia ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Smith McCort dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Smith McCort dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Atlantoaxial instability - Autosomal recessive inheritance - Barrel-shaped chest - Beaking of vertebral bodies - Deformed sella turcica - Delayed femoral head ossification - Disproportionate short-trunk short stature - Dolichocephaly - Genu valgum - Genu varum - Hypoplasia of the odontoid process - Hypoplastic acetabulae - Hypoplastic facial bones - Hypoplastic scapulae - Irregular epiphyses - Kyphosis - Metaphyseal irregularity - Microcephaly - Multicentric femoral head ossification - Platyspondyly - Prominent sternum - Scoliosis - Short metacarpal - Short phalanx of finger - Waddling gait - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Stroke ?"}, {"role": "assistant", "content": "Surgery Surgery can be used to prevent stroke, to treat stroke, or to repair damage to the blood vessels or malformations in and around the brain. - Carotid endarterectomy is a surgical procedure in which a surgeon removes fatty deposits, or plaque, from the inside of one of the carotid arteries. The procedure is performed to prevent stroke. The carotid arteries are located in the neck and are the main suppliers of blood to the brain. Carotid endarterectomy is a surgical procedure in which a surgeon removes fatty deposits, or plaque, from the inside of one of the carotid arteries. The procedure is performed to prevent stroke. The carotid arteries are located in the neck and are the main suppliers of blood to the brain. Vascular Interventions In addition to surgery, a variety of techniques have been developed to allow certain vascular problems to be treated from inside the artery using specialized catheters with the goal of improving blood flow. (Vascular is a word that refers to blood vessels, arteries, and veins that carry blood throughout the body.) A catheter is a very thin, flexible tube that can be inserted into one of the major arteries of the leg or arm and then directed through the blood vessels to the diseased artery. Physicians trained in this technique called angiography undergo additional training to treat problems in the arteries of the brain or spinal cord. These physicians are called neurointerventionalists. - Angioplasty is widely used by angiographers to open blocked heart arteries, and is also used to prevent stroke. Angioplasty is a procedure in which a special catheter is inserted into the narrowed artery and then a balloon at the tip of the catheter is inflated to open the blocked artery. The procedure improves blood flow to the brain. Angioplasty is widely used by angiographers to open blocked heart arteries, and is also used to prevent stroke. Angioplasty is a procedure in which a special catheter is inserted into the narrowed artery and then a balloon at the tip of the catheter is inflated to open the blocked artery. The procedure improves blood flow to the brain. - Stenting is another procedure used to prevent stroke. In this procedure an angiographer inserts a catheter into the artery in the groin and then positions the tip of the catheter inside the narrowed artery. A stent is a tube-like device made of a mesh-like material that can be slipped into position over the catheter. When positioned inside the narrowed segment the stent is expanded to widen the artery and the catheter is removed. Angioplasty or stenting of the carotid artery can cause pieces of the diseased plaque to loosen. An umbrella-like device is often temporarily expanded above to prevent these pieces from traveling to the brain. Stenting is another procedure used to prevent stroke. In this procedure an angiographer inserts a catheter into the artery in the groin and then positions the tip of the catheter inside the narrowed artery. A stent is a tube-like device made of a mesh-like material that can be slipped into position over the catheter. When positioned inside the narrowed segment the stent is expanded to widen the artery and the catheter is removed. Angioplasty or stenting of the carotid artery can cause pieces of the diseased plaque to loosen. An umbrella-like device is often temporarily expanded above to prevent these pieces from traveling to the brain. - Angiographers also sometimes use clot removal devices to treat stroke patients in the very early stage. One device involves threading a catheter through the artery to the site of the blockage and then vacuuming out the clot. Another corkscrew-like device can be extended from the tip of a catheter and used to grab the clot and pull it out. Drugs can also be injected through the catheter directly into the clot to help dissolve the clot. Angiographers also sometimes use clot removal devices to treat stroke patients in the very early stage. One device involves threading a catheter through the artery to the site of the blockage and then vacuuming out the clot. Another corkscrew-like device can be extended from the tip of a catheter and used to grab the clot and pull it out. Drugs can also be injected through the catheter directly into the clot to help dissolve the clot.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies ?"}, {"role": "assistant", "content": "IMAGe syndrome is caused by mutations in the CDKN1C gene. This gene provides instructions for making a protein that helps control growth before birth. The mutations that cause IMAGe syndrome alter the structure and function of the CDKN1C protein, which inhibits normal growth starting in the early stages of development before birth. Researchers are working to determine how these genetic changes underlie the bone abnormalities, adrenal gland underdevelopment, and other signs and symptoms of this condition. People inherit one copy of most genes from their mother and one copy from their father. For most genes, both copies are fully turned on (active) in cells. The CDKN1C gene, however, is most active when it is inherited from a person's mother. The copy of CDKN1C inherited from a person's father is active at much lower levels in most tissues. This sort of parent-specific difference in gene activation is caused by a phenomenon called genomic imprinting. When genomic imprinting reduces the activity of the copy of a gene inherited from the father, that gene is said to be paternally imprinted.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for desmoid tumor ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of desmoid tumor: - Dana-Farber Cancer Institute - Desmoid Tumor Research Foundation: About Desmoid Tumors - Genetic Testing Registry: Desmoid disease, hereditary These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for familial erythrocytosis ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of familial erythrocytosis: - Genetic Testing Registry: Erythrocytosis, familial, 2 - Genetic Testing Registry: Erythrocytosis, familial, 3 - Genetic Testing Registry: Erythrocytosis, familial, 4 - Genetic Testing Registry: Familial erythrocytosis, 1 - MedlinePlus Encyclopedia: Erythropoietin Test These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Hand Injuries and Disorders ?"}, {"role": "assistant", "content": "No matter how old you are or what you do for a living, you are always using your hands. When there is something wrong with them, you may not be able to do your regular activities. Hand problems include - Carpal tunnel syndrome - compression of a nerve as it goes through the wrist, often making your fingers feel numb - Injuries that result in fractures, ruptured ligaments and dislocations - Osteoarthritis - wear-and-tear arthritis, which can also cause deformity - Tendinitis - irritation of the tendons - Disorders and injuries of your fingers and thumb", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is bradyopsia inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Who is at risk for Knee Replacement? ?"}, {"role": "assistant", "content": "Because a fall can damage your new knee, making your home a safe place is crucial. Before your surgery, look for and correct hazards, including cluttered floors, loose electrical cords, unsecured rugs, and dark hallways. A raised toilet seat can make it easier to get up and down. Grab bars in the tub can keep you steady.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes ?"}, {"role": "assistant", "content": "Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is a condition that affects many of the body's systems, particularly the brain and nervous system (encephalo-) and muscles (myopathy). The signs and symptoms of this disorder most often appear in childhood following a period of normal development, although they can begin at any age. Early symptoms may include muscle weakness and pain, recurrent headaches, loss of appetite, vomiting, and seizures. Most affected individuals experience stroke-like episodes beginning before age 40. These episodes often involve temporary muscle weakness on one side of the body (hemiparesis), altered consciousness, vision abnormalities, seizures, and severe headaches resembling migraines. Repeated stroke-like episodes can progressively damage the brain, leading to vision loss, problems with movement, and a loss of intellectual function (dementia). Most people with MELAS have a buildup of lactic acid in their bodies, a condition called lactic acidosis. Increased acidity in the blood can lead to vomiting, abdominal pain, extreme tiredness (fatigue), muscle weakness, and difficulty breathing. Less commonly, people with MELAS may experience involuntary muscle spasms (myoclonus), impaired muscle coordination (ataxia), hearing loss, heart and kidney problems, diabetes, and hormonal imbalances.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Mixed connective tissue disease ?"}, {"role": "assistant", "content": "What causes mixed connective tissue disease? The exact underlying cause of mixed connective tissue disease (MCTD) is currently unknown. It is an autoimmune disorder, which means the immune system mistakes normal, healthy cells for those that that body should \"fight off.\" There are ongoing studies exploring how immune system dysfunction may be involved in the development of this condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Stenotrophomonas maltophilia infection ?"}, {"role": "assistant", "content": "How is Stenotrophomonas maltophilia infection diagnosed? Stenotrophomonas maltophilia (S. maltophilia) infection is usually diagnosed by examining a small sample of blood, mucus, and/or urine. When an infection is suspected, possible sites of infection including wounds, intravenous (vein) catheters, urinary catheters, and breathing machines should also be tested for the presence of S. maltophilia bacteria.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Cerebellar degeneration ?"}, {"role": "assistant", "content": "What are the signs and symptoms of cerebellar degeneration? Cerebellar degeneration is primarily characterized by a wide-legged, unsteady, lurching walk that is usually accompanied by a back and forth tremor in the trunk of the body. Other signs and symptoms may include slow, unsteady and jerky movement of the arms or legs; slowed and slurred speech; and nystagmus. Although cerebellar disorders usually strike adults in middle age, the age of symptomatic onset varies depending on the underlying cause of the degeneration. Studies have shown that many patients with movement disorders caused by damage to the cerebellum also have psychiatric symptoms. These studies suggest that patients with cerebellar diseases may benefit from screening and treatment of psychiatric disorders.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Benign multicystic peritoneal mesothelioma ?"}, {"role": "assistant", "content": "How might benign multicystic peritoneal mesothelioma be treated? Surgery to remove the cystic lesions is the only effective treatment for BMPM. Aggressive surgical approaches are often recommended. Hormonal therapy has also been attempted in individual cases with variable degrees of success. Most affected individuals do not undergo chemotherapy and/or radiotherapy because these tumors are usually benign.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Tietz syndrome ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of Tietz syndrome: - Genetic Testing Registry: Tietz syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Familial hemiplegic migraine type 3 ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Familial hemiplegic migraine type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial hemiplegic migraine type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of movement 90% Hemiplegia/hemiparesis 90% Incoordination 50% Nystagmus 50% Abnormality of retinal pigmentation 7.5% EEG abnormality 7.5% Neurological speech impairment 7.5% Sensorineural hearing impairment 7.5% Autosomal dominant inheritance - Blindness - Hemiparesis - Hemiplegia - Migraine with aura - Photophobia - Seizures - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Mitral Valve Prolapse ?"}, {"role": "assistant", "content": "The exact cause of mitral valve prolapse (MVP) isn't known. Most people who have the condition are born with it. MVP tends to run in families. Also, it's more common in people who are born with connective tissue disorders, such as Marfan syndrome.\n \nIn people who have MVP, the mitral valve may be abnormal in the following ways:\n \nThe valve flaps may be too large and thick.\n \nThe valve flaps may be \"floppy.\" The tissue of the flaps and their supporting \"strings\" are too stretchy, and parts of the valve flop or bulge back into the atrium.\n \nThe opening of the valve may stretch.\n \nThese problems can keep the valve from making a tight seal. Some people's valves are abnormal in more than one way.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Adrenal Insufficiency and Addison's Disease ?"}, {"role": "assistant", "content": "A lack of CRH or ACTH causes secondary adrenal insufficiency. The lack of these hormones in the body can be traced to several possible sources.\n \nStoppage of Corticosteroid Medication\n \nA temporary form of secondary adrenal insufficiency may occur when a person who has been taking a synthetic glucocorticoid hormone, called a corticosteroid, for a long time stops taking the medication. Corticosteroids are often prescribed to treat inflammatory illnesses such as rheumatoid arthritis, asthma, and ulcerative colitis. In this case, the prescription doses often cause higher levels than those normally achieved by the glucocorticoid hormones created by the body. When a person takes corticosteroids for prolonged periods, the adrenal glands produce less of their natural hormones. Once the prescription doses of corticosteroid are stopped, the adrenal glands may be slow to restart their production of the bodys glucocorticoids. To give the adrenal glands time to regain function and prevent adrenal insufficiency, prescription corticosteroid doses should be reduced gradually over a period of weeks or even months. Even with gradual reduction, the adrenal glands might not begin to function normally for some time, so a person who has recently stopped taking prescription corticosteroids should be watched carefully for symptoms of secondary adrenal insufficiency.\n \nSurgical Removal of Pituitary Tumors\n \nAnother cause of secondary adrenal insufficiency is surgical removal of the usually noncancerous, ACTH-producing tumors of the pituitary gland that cause Cushings syndrome. Cushings syndrome is a hormonal disorder caused by prolonged exposure of the bodys tissues to high levels of the hormone cortisol. When the tumors are removed, the source of extra ACTH is suddenly gone and a replacement hormone must be taken until the bodys adrenal glands are able to resume their normal production of cortisol. The adrenal glands might not begin to function normally for some time, so a person who has had an ACTH-producing tumor removed and is going off of his or her prescription corticosteroid replacement hormone should be watched carefully for symptoms of adrenal insufficiency.\n \nMore information is provided in the NIDDK health topic, Cushings Syndrome.\n \nChanges in the Pituitary Gland\n \nLess commonly, secondary adrenal insufficiency occurs when the pituitary gland either decreases in size or stops producing ACTH. These events can result from\n \n- tumors or an infection in the pituitary - loss of blood flow to the pituitary - radiation for the treatment of pituitary or nearby tumors - surgical removal of parts of the hypothalamus - surgical removal of the pituitary", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Jacobsen syndrome inherited ?"}, {"role": "assistant", "content": "Most cases of Jacobsen syndrome are not inherited. They result from a chromosomal deletion that occurs as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. Affected people typically have no history of the disorder in their family, although they can pass the chromosome deletion to their children. Between 5 and 10 percent of people with Jacobsen syndrome inherit the chromosome abnormality from an unaffected parent. In these cases, the parent carries a chromosomal rearrangement called a balanced translocation, in which a segment from chromosome 11 has traded places with a segment from another chromosome. In a balanced translocation, no genetic material is gained or lost. Balanced translocations usually do not cause any health problems; however, they can become unbalanced as they are passed to the next generation. Children who inherit an unbalanced translocation can have a chromosomal rearrangement with some missing genetic material and some extra genetic material. Individuals with Jacobsen syndrome who inherit an unbalanced translocation are missing genetic material from the end of the long arm of chromosome 11 and have extra genetic material from another chromosome. These chromosomal changes result in the health problems characteristic of this disorder.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to familial erythrocytosis ?"}, {"role": "assistant", "content": "Familial erythrocytosis can result from mutations in the EPOR, VHL, EGLN1, or EPAS1 gene. Researchers define four types of familial erythrocytosis, ECYT1 through ECYT4, based on which of these genes is altered. The EPOR gene provides instructions for making a protein known as the erythropoietin receptor, which is found on the surface of certain blood-forming cells in the bone marrow. Erythropoietin is a hormone that directs the production of new red blood cells. Erythropoietin fits into the receptor like a key into a lock, triggering signaling pathways that lead to the formation of red blood cells. Mutations in the EPOR gene cause the erythropoietin receptor to be turned on for an abnormally long time after attaching to erythropoietin. The overactive receptor signals the production of red blood cells even when they are not needed, which results in an excess of these cells in the bloodstream. When familial erythrocytosis is caused by mutations in the EPOR gene, it is known as ECYT1. The proteins produced from the VHL, EGLN1, and EPAS1 genes are also involved in red blood cell production; they each play a role in regulating erythropoietin. The protein produced from the EPAS1 gene is one component of a protein complex called hypoxia-inducible factor (HIF). When oxygen levels are lower than normal (hypoxia), HIF activates genes that help the body adapt, including the gene that provides instructions for making erythropoietin. Erythropoietin stimulates the production of more red blood cells to carry oxygen to organs and tissues. The proteins produced from the VHL and EGLN1 genes indirectly regulate erythropoietin by controlling the amount of available HIF. Mutations in any of these three genes can disrupt the regulation of red blood cell formation, leading to an overproduction of these cells. When familial erythrocytosis results from VHL gene mutations it is known as ECYT2; when the condition is caused by EGLN1 gene mutations it is called ECYT3; and when the condition results from EPAS1 gene mutations it is known as ECYT4. Researchers have also described non-familial (acquired) forms of erythrocytosis. Causes of acquired erythrocytosis include long-term exposure to high altitude, chronic lung or heart disease, episodes in which breathing slows or stops for short periods during sleep (sleep apnea), and certain types of tumors. Another form of acquired erythrocytosis, called polycythemia vera, results from somatic (non-inherited) mutations in other genes involved in red blood cell production. In some cases, the cause of erythrocytosis is unknown.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Parasites - Ascariasis ?"}, {"role": "assistant", "content": "The standard method for diagnosing ascariasis is by identifying Ascaris eggs in a stool sample using a microscope. Because eggs may be difficult to find in light infections, a concentration procedure is recommended.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Inflammatory myofibroblastic tumor ?"}, {"role": "assistant", "content": "An inflammatory myofibroblastic tumor (IMT) is an uncommon, presumably benign (non-cancerous) tumor made up of cells called myofibroblastic spindle cells. It usually develops in children or young adults, but can affect people of any age. An IMT can occur in almost any part of the body but is most commonly found in the lung, orbit (eye socket), peritoneum (lining of the abdominal cavity and internal organs), and mesentery. Signs and symptoms vary depending on the site of the tumor. Some people with an IMT are asymptomatic, while others may have nonspecific respiratory symptoms, fever, or pain. IMTs may recur, and occasionally become locally invasive and/or spread (metastasize) to other parts of the body. The underlying cause of IMTs is poorly understood. Some cases have been linked to translocations involving the ALK gene. Treatment involves surgical removal when possible, although there are reports of treatment with oral steroids and radiation therapy.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to CATSPER1-related nonsyndromic male infertility ?"}, {"role": "assistant", "content": "Mutations in the CATSPER1 gene cause CATSPER1-related nonsyndromic male infertility. The CATSPER1 gene provides instructions for producing a protein that is found in the tail of sperm cells. The CATSPER1 protein is involved in the movement of the sperm tail, which propels the sperm forward and is required for sperm cells to push through the outside membrane of the egg cell during fertilization. CATSPER1 gene mutations result in the production of a CATSPER1 protein that may be altered, nonfunctional, or quickly broken down (degraded) by the cell. Sperm cells missing a functional CATSPER1 protein have decreased motion in their tails and move more slowly than normal. Sperm cells lacking functional CATSPER1 protein cannot push through the outside membrane of the egg cell. As a result, sperm cells cannot reach the inside of the egg cell to achieve fertilization.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Abdominal Adhesions ?"}, {"role": "assistant", "content": "The abdominal cavity is the internal area of the body between the chest and hips that contains the lower part of the esophagus, stomach, small intestine, and large intestine. The esophagus carries food and liquids from the mouth to the stomach, which slowly pumps them into the small and large intestines. Abdominal adhesions can kink, twist, or pull the small and large intestines out of place, causing an intestinal obstruction. Intestinal obstruction, also called a bowel obstruction, results in the partial or complete blockage of movement of food or stool through the intestines.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Knobloch syndrome inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is the outlook for Childhood Craniopharyngioma ?"}, {"role": "assistant", "content": "Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - The size of the tumor. - Where the tumor is in the brain. - Whether there are tumor cells left after surgery. - The child's age. - Side effects that may occur months or years after treatment. - Whether the tumor has just been diagnosed or has recurred (come back).", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is the outlook for Spasticity ?"}, {"role": "assistant", "content": "The prognosis for those with spasticity depends on the severity of the spasticity and the associated disorder(s).", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Parasites - Schistosomiasis ?"}, {"role": "assistant", "content": "Safe and effective medication is available for treatment of both urinary and intestinal schistosomiasis. Praziquantel, a prescription medication, is taken for 1-2 days to treat infections caused by all Schistosoma species.\n \nMore on: Resources for Health Professionals: Treatment", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Crouzonodermoskeletal syndrome ?"}, {"role": "assistant", "content": "Crouzonodermoskeletal syndrome is a disorder characterized by the premature joining of certain bones of the skull (craniosynostosis) during development and a skin condition called acanthosis nigricans. The signs and symptoms of Crouzonodermoskeletal syndrome overlap with those of a similar condition called Crouzon syndrome. Common features include premature fusion of the skull bones, which affects the shape of the head and face; wide-set, bulging eyes due to shallow eye sockets; eyes that do not point in the same direction (strabismus); a small, beaked nose; and an underdeveloped upper jaw. People with Crouzon syndrome or Crouzonodermoskeletal syndrome usually have normal intelligence. Several features distinguish Crouzonodermoskeletal syndrome from Crouzon syndrome. People with Crouzonodermoskeletal syndrome have acanthosis nigricans, a skin condition characterized by thick, dark, velvety skin in body folds and creases, including the neck and underarms. In addition, subtle changes may be seen in the bones of the spine (vertebrae) on x-rays. Noncancerous growths called cementomas may develop in the jaw during young adulthood.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Familial osteochondritis dissecans ?"}, {"role": "assistant", "content": "How is osteochondritis dissecans diagnosed? A diagnosis of osteochondritis dissecans is usually suspected based on the presence of characteristic signs and symptoms. Additional testing can then be ordered to confirm the diagnosis. These test may include x-rays, magnetic resonance imaging (MRI) and/or computed tomography (CT scan). For more information about the diagnosis of osteochondritis dissecans, please click here.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to prevent High Blood Pressure ?"}, {"role": "assistant", "content": "Two key measures are used to determine if someone is overweight or obese. These are body mass index, or BMI, and waist circumference. Body mass index (BMI) is a measure of weight in relation to height, and provides an estimate of your total body fat. As your BMI goes up, so do your chances of getting high blood pressure, heart disease, and other health problems. A BMI - below 18.5 is a sign that you are underweight. - between 18.5 and 24.9 is in the healthy range. - between 25 and 29.9 is considered overweight. - of 30 or more is considered obese. below 18.5 is a sign that you are underweight. between 18.5 and 24.9 is in the healthy range. between 25 and 29.9 is considered overweight. of 30 or more is considered obese. See the Body Mass Index Table, available from the National Heart, Lung, and Blood Institute (NHLBI). Body mass index (BMI) applies to both men and women, but it does have some limits. - It may overestimate body fat in in someone who is very muscular or who has swelling from fluid retention (called edema) - It may underestimate body fat in older persons and others who have lost muscle mass. It may overestimate body fat in in someone who is very muscular or who has swelling from fluid retention (called edema) It may underestimate body fat in older persons and others who have lost muscle mass. Thats why waist measurement is often checked as well. Another reason is that too much body fat in the stomach area also increases disease risk. A waist measurement of more than 35 inches in women and more than 40 inches in men is considered high.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Long QT syndrome 1 ?"}, {"role": "assistant", "content": "Romano-Ward syndrome is the most common form of inherited long QT syndrome. Symptoms include arrhythmia, fainting, cardiac arrest, and sudden death. There are six different types of this syndrome, long QT 1 through 6. Each type is caused by a change in a different gene. The most prevalent form of long QT syndrome is long QT type 1. Long QT type 1 is caused by changes in the KCNQ1 gene. Romano-Ward syndrome is inherited in an autosomal dominant fashion.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "what research (or clinical trials) is being done for Transitional Cell Cancer of the Renal Pelvis and Ureter ?"}, {"role": "assistant", "content": "New types of treatment are being tested in clinical trials.\n This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI Web site. Fulguration Fulguration is a surgical procedure that destroys tissue using an electric current. A tool with a small wire loop on the end is used to remove the cancer or to burn away the tumor with electricity. Segmental resection of the renal pelvis This is a surgical procedure to remove localized cancer from the renal pelvis without removing the entire kidney. Segmental resection may be done to save kidney function when the other kidney is damaged or has already been removed. Laser surgery A laser beam (narrow beam of intense light) is used as a knife to remove the cancer. A laser beam can also be used to kill the cancer cells. This procedure may also be called or laser fulguration. Regional chemotherapy and regional biologic therapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping the cells from dividing. Biologic therapy is a treatment that uses the patient's immune system to fight cancer; substances made by the body or made in a laboratory are used to boost, direct, or restore the body's natural defenses against cancer. Regional treatment means the anticancer drugs or biologic substances are placed directly into an organ or a body cavity such as the abdomen, so the drugs will affect cancer cells in that area. Clinical trials are studying chemotherapy or biologic therapy using drugs placed directly into the renal pelvis or the ureter.\n \n \n Patients may want to think about taking part in a clinical trial.\n For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward.\n \n \n Patients can enter clinical trials before, during, or after starting their cancer treatment.\n Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by Fukuyama congenital muscular dystrophy ?"}, {"role": "assistant", "content": "Fukuyama congenital muscular dystrophy is seen almost exclusively in Japan, where it is the second most common form of childhood muscular dystrophy (after Duchenne muscular dystrophy). Fukuyama congenital muscular dystrophy has an estimated incidence of 2 to 4 per 100,000 Japanese infants.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Autoimmune autonomic ganglionopathy ?"}, {"role": "assistant", "content": "How might autoimmune autonomic ganglionopathy be treated? Since autoimmune autonomic ganglionopathy is so rare, no standard treatments have been established. Experts familiar with this condition often use plasma exchange or total plasmapheresis, intravenous immunoglobulin (IVIG), IV corticosteroids, or immunosuppressive drugs, such as Rituxan to treat the symptoms of the disease. A therapeutic trial for autoimmune autonomic ganglionopathy is currently being conducted by the Autonomic Disorders Consortium.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) cone-rod dystrophy ?"}, {"role": "assistant", "content": "Cone-rod dystrophy is a group of related eye disorders that causes vision loss, which becomes more severe over time. These disorders affect the retina, which is the layer of light-sensitive tissue at the back of the eye. In people with cone-rod dystrophy, vision loss occurs as the light-sensing cells of the retina gradually deteriorate. The first signs and symptoms of cone-rod dystrophy, which often occur in childhood, are usually decreased sharpness of vision (visual acuity) and increased sensitivity to light (photophobia). These features are typically followed by impaired color vision (dyschromatopsia), blind spots (scotomas) in the center of the visual field, and partial side (peripheral) vision loss. Over time, affected individuals develop night blindness and a worsening of their peripheral vision, which can limit independent mobility. Decreasing visual acuity makes reading increasingly difficult and most affected individuals are legally blind by mid-adulthood. As the condition progresses, individuals may develop involuntary eye movements (nystagmus). There are more than 30 types of cone-rod dystrophy, which are distinguished by their genetic cause and their pattern of inheritance: autosomal recessive, autosomal dominant, or X-linked (each of which is described below). Additionally, cone-rod dystrophy can occur alone without any other signs and symptoms or it can occur as part of a syndrome that affects multiple parts of the body.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Urinary Tract Infections in Children ?"}, {"role": "assistant", "content": "Some abnormalities in the urinary tract correct themselves as the child grows, but some may require surgical correction. While milder forms of VUR may resolve on their own, one common procedure to correct VUR is the reimplantation of the ureters. During this procedure, the surgeon repositions the connection between the ureters and the bladder so that urine will not reflux into the ureters and kidneys. This procedure may be performed through an incision that gives the surgeon a direct view of the bladder and ureters or laparoscopically. Laparoscopy is a procedure that uses a scope inserted through a small incision.\n \nIn recent years, health care providers have treated some cases of VUR by injecting substances into the bladder wall, just below the opening where the ureter joins the bladder. This injection creates a kind of narrowing or valve that keeps urine from refluxing into the ureters. The injection is delivered to the inside of the bladder through a catheter passed through the urethra, so there is no surgical incision. Evidence of clinically significant obstruction may indicate the need for surgery.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Gonorrhea ?"}, {"role": "assistant", "content": "Gonorrhea is a sexually transmitted disease. It is most common in young adults. The bacteria that cause gonorrhea can infect the genital tract, mouth, or anus. You can get gonorrhea during vaginal, oral, or anal sex with an infected partner. A pregnant woman can pass it to her baby during childbirth. Gonorrhea does not always cause symptoms. In men, gonorrhea can cause pain when urinating and discharge from the penis. If untreated, it can cause problems with the prostate and testicles. In women, the early symptoms of gonorrhea often are mild. Later, it can cause bleeding between periods, pain when urinating, and increased discharge from the vagina. If untreated, it can lead to pelvic inflammatory disease, which causes problems with pregnancy and infertility. Your health care provider will diagnose gonorrhea with lab tests. Treatment is with antibiotics. Treating gonorrhea is becoming more difficult because drug-resistant strains are increasing. Correct usage of latex condoms greatly reduces, but does not eliminate, the risk of catching or spreading gonorrhea. NIH: National Institute of Allergy and Infectious Diseases", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Peripheral Artery Disease ?"}, {"role": "assistant", "content": "Peripheral artery disease (P.A.D.) is diagnosed based on your medical and family histories, a physical exam, and test results.\n \nP.A.D. often is diagnosed after symptoms are reported. A correct diagnosis is important because people who have P.A.D. are at higher risk for coronary heart disease (CHD), heart attack, stroke, and transient ischemic attack (\"mini-stroke\"). If you have P.A.D., your doctor also may want to check for signs of these diseases and conditions.\n \nSpecialists Involved\n \nPrimary care doctors, such as internists and family doctors, may treat people who have mild P.A.D. For more advanced P.A.D., a vascular specialist may be involved. This is a doctor who specializes in treating blood vessel diseases and conditions.\n \nA cardiologist also may be involved in treating people who have P.A.D. Cardiologists treat heart problems, such as CHD and heart attack, which often affect people who have P.A.D.\n \nMedical and Family Histories\n \nYour doctor may ask:\n \nWhether you have any risk factors for P.A.D. For example, he or she may ask whether you smoke or have diabetes.\n \nAbout your symptoms, including any symptoms that occur when walking, exercising, sitting, standing, or climbing.\n \nAbout your diet.\n \nAbout any medicines you take, including prescription and over-the-counter medicines.\n \nWhether anyone in your family has a history of heart or blood vessel diseases.\n \nPhysical Exam\n \nDuring the physical exam, your doctor will look for signs of P.A.D. He or she may check the blood flow in your legs or feet to see whether you have weak or absent pulses.\n \nYour doctor also may check the pulses in your leg arteries for an abnormal whooshing sound called a bruit. He or she can hear this sound with a stethoscope. A bruit may be a warning sign of a narrowed or blocked artery.\n \nYour doctor may compare blood pressure between your limbs to see whether the pressure is lower in the affected limb. He or she also may check for poor wound healing or any changes in your hair, skin, or nails that may be signs of P.A.D.\n \nDiagnostic Tests\n \nAnkle-Brachial Index\n \nA simple test called an ankle-brachial index (ABI) often is used to diagnose P.A.D. The ABI compares blood pressure in your ankle to blood pressure in your arm. This test shows how well blood is flowing in your limbs.\n \nABI can show whether P.A.D. is affecting your limbs, but it won't show which blood vessels are narrowed or blocked.\n \nA normal ABI result is 1.0 or greater (with a range of 0.90 to 1.30). The test takes about 10 to 15 minutes to measure both arms and both ankles. This test may be done yearly to see whether P.A.D. is getting worse.\n \nAnkle-Brachial Index\n \n\n \nDoppler Ultrasound\n \nA Doppler ultrasound looks at blood flow in the major arteries and veins in the limbs. During this test, a handheld device is placed on your body and passed back and forth over the affected area. A computer converts sound waves into a picture of blood flow in the arteries and veins.\n \nThe results of this test can show whether a blood vessel is blocked. The results also can help show the severity of P.A.D.\n \nTreadmill Test\n \nA treadmill test can show the severity of symptoms and the level of exercise that brings them on. You'll walk on a treadmill for this test. This shows whether you have any problems during normal walking.\n \nYou may have an ABI test before and after the treadmill test. This will help compare blood flow in your arms and legs before and after exercise.\n \nMagnetic Resonance Angiogram\n \nA magnetic resonance angiogram (MRA) uses magnetic and radio wave energy to take pictures of your blood vessels. This test is a type of magnetic resonance imaging (MRI).\n \nAn MRA can show the location and severity of a blocked blood vessel. If you have a pacemaker, man-made joint, stent, surgical clips, mechanical heart valve, or other metallic devices in your body, you might not be able to have an MRA. Ask your doctor whether an MRA is an option for you.\n \nArteriogram\n \nAn arteriogram provides a \"road map\" of the arteries. Doctors use this test to find the exact location of a blocked artery.\n \nFor this test, dye is injected through a needle or catheter (tube) into one of your arteries. This may make you feel mildly flushed. After the dye is injected, an x ray is taken. The xray can show the location, type, and extent of the blockage in the artery.\n \nSome doctors use a newer method of arteriogram that uses tiny ultrasound cameras. These cameras take pictures of the insides of the blood vessels. This method is called intravascular ultrasound.\n \nBlood Tests\n \nYour doctor may recommend blood tests to check for P.A.D. risk factors. For example, blood tests can help diagnose conditions such as diabetes and high blood cholesterol.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for phenylketonuria ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of phenylketonuria: - Baby's First Test - Gene Review: Gene Review: Phenylalanine Hydroxylase Deficiency - Genetic Testing Registry: Phenylketonuria - MedlinePlus Encyclopedia: Phenylketonuria - MedlinePlus Encyclopedia: Serum Phenylalanine Screening These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Renal Artery Stenosis ?"}, {"role": "assistant", "content": "Renal artery stenosis is the narrowing of one or both renal arteries. Renal means kidney and stenosis means narrowing. The renal arteries are blood vessels that carry blood to the kidneys from the aortathe main blood vessel that carries blood from the heart to arteries throughout the body.\n \nRVH is high blood pressure caused by RAS. Blood pressure is written with two numbers separated by a slash, 120/80, and is said as 120 over 80. The top number is called the systolic pressure and represents the pressure as the heart beats and pushes blood through the blood vessels. The bottom number is called the diastolic pressure and represents the pressure as blood vessels relax between heartbeats. A persons blood pressure is considered normal if it stays at or below 120/80. High blood pressure is a systolic pressure of 140 or above or a diastolic pressure of 90 or above.1", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Adult Primary Liver Cancer ?"}, {"role": "assistant", "content": "Tests that examine the liver and the blood are used to detect (find) and diagnose adult primary liver cancer. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken. - Serum tumor marker test : A procedure in which a sample of blood is examined to measure the amounts of certain substances released into the blood by organs, tissues, or tumor cells in the body. Certain substances are linked to specific types of cancer when found in increased levels in the blood. These are called tumor markers. An increased level of alpha-fetoprotein (AFP) in the blood may be a sign of liver cancer. Other cancers and certain noncancerous conditions, including cirrhosis and hepatitis, may also increase AFP levels. Sometimes the AFP level is normal even when there is liver cancer. - Liver function tests : A procedure in which a blood sample is checked to measure the amounts of certain substances released into the blood by the liver. A higher than normal amount of a substance can be a sign of liver cancer. - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, such as the abdomen, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. Images may be taken at three different times after the dye is injected, to get the best picture of abnormal areas in the liver. This is called triple-phase CT. A spiral or helical CT scan makes a series of very detailed pictures of areas inside the body using an x-ray machine that scans the body in a spiral path. - MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body, such as the liver. This procedure is also called nuclear magnetic resonance imaging (NMRI). To create detailed pictures of blood vessels in and near the liver, dye is injected into a vein. This procedure is called MRA (magnetic resonance angiography). Images may be taken at three different times after the dye is injected, to get the best picture of abnormal areas in the liver. This is called triple-phase MRI. - Ultrasound exam: A procedure in which high-energy sound waves (ultrasound) are bounced off internal tissues or organs and make echoes. The echoes form a picture of body tissues called a sonogram. The picture can be printed to be looked at later. - Biopsy : The removal of cells or tissues so they can be viewed under a microscope by a pathologist to check for signs of cancer. Procedures used to collect the sample of cells or tissues include the following: - Fine-needle aspiration biopsy : The removal of cells, tissue or fluid using a thin needle. - Core needle biopsy : The removal of cells or tissue using a slightly wider needle. - Laparoscopy : A surgical procedure to look at the organs inside the abdomen to check for signs of disease. Small incisions (cuts) are made in the wall of the abdomen and a laparoscope (a thin, lighted tube) is inserted into one of the incisions. Another instrument is inserted through the same or another incision to remove the tissue samples. A biopsy is not always needed to diagnose adult primary liver cancer.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for 22q11.2 deletion syndrome ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of 22q11.2 deletion syndrome: - Gene Review: Gene Review: 22q11.2 Deletion Syndrome - Genetic Testing Registry: Asymmetric crying face association - Genetic Testing Registry: DiGeorge sequence - Genetic Testing Registry: Opitz G/BBB syndrome - Genetic Testing Registry: Shprintzen syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Fetal retinoid syndrome ?"}, {"role": "assistant", "content": "Fetal retinoid syndrome is a characteristic pattern of physical and mental birth defects that results from maternal use of retinoids during pregnancy. The most well known retinoid is isotretinoin (Accutane), a drug used to treat severe cystic acne. Birth defects associated with fetal retinoid syndrome include: hydrocephalus, microcephaly, intellectual disabilities, ear and eye abnormalities, cleft palate and other facial differences, and heart defects. Isotretinoin can cause these birth defects in the early weeks of pregnancy, even before a woman knows that she is pregnant.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by myoclonic epilepsy myopathy sensory ataxia ?"}, {"role": "assistant", "content": "The prevalence of myoclonic epilepsy myopathy sensory ataxia is unknown.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to aromatase excess syndrome ?"}, {"role": "assistant", "content": "Rearrangements of genetic material involving the CYP19A1 gene cause aromatase excess syndrome. The CYP19A1 gene provides instructions for making an enzyme called aromatase. This enzyme converts a class of hormones called androgens, which are involved in male sexual development, to different forms of estrogen. In females, estrogen guides female sexual development before birth and during puberty. In both males and females, estrogen plays a role in regulating bone growth. The condition can result from several types of genetic rearrangements involving the CYP19A1 gene. These rearrangements alter the activity of the gene and lead to an increase in aromatase production. In affected males, the increased aromatase and subsequent conversion of androgens to estrogen are responsible for the gynecomastia and limited bone growth characteristic of aromatase excess syndrome. Increased estrogen in females can cause symptoms such as irregular menstrual periods and short stature.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Pseudopelade of Brocq ?"}, {"role": "assistant", "content": "Is there treatment or a cure for pseudopelade of Brocq? Neither an effective treatment nor cure has been identified for pseudopelade of Brocq. Unfortunately, even when treatment relieves the symptoms and signs, the progression of hair loss may continue. The choice of treatment prescribed varies from person to person and depends mainly on the activity, extent of the disease and patient's tolerance to the treatment. Various forms of corticosteroids have been tried, including injections or skin lotions or creams. Surgery such as hair transplant or scalp reduction might be considered in patients whose condition has remained stable for two or more years.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is adenine phosphoribosyltransferase deficiency inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Sialadenitis ?"}, {"role": "assistant", "content": "How might sialadenitis be treated? The initial treatment for sialadenitis is antibiotics active against S. aureus. Hydration, ingesting things that trigger saliva flow (such as lemon juice or hard candy), warm compresses, gland massage, and good oral hygiene are also important. Abscesses need to be drained. Occasionally, in cases of chronic or relapsing sialadenitis, a superficial parotidectomy or submandibular gland excision is needed.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Primary Myelofibrosis ?"}, {"role": "assistant", "content": "Symptoms of primary myelofibrosis include pain below the ribs on the left side and feeling very tired. Primary myelofibrosis often does not cause early signs or symptoms. It may be found during a routine blood test. Signs and symptoms may be caused by primary myelofibrosis or by other conditions. Check with your doctor if you have any of the following: - Feeling pain or fullness below the ribs on the left side. - Feeling full sooner than normal when eating. - Feeling very tired. - Shortness of breath. - Easy bruising or bleeding. - Petechiae (flat, red, pinpoint spots under the skin that are caused by bleeding). - Fever. - Night sweats. - Weight loss.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for SADDAN ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of SADDAN: - Gene Review: Gene Review: Achondroplasia - Genetic Testing Registry: Severe achondroplasia with developmental delay and acanthosis nigricans - MedlinePlus Encyclopedia: Acanthosis Nigricans These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to familial porencephaly ?"}, {"role": "assistant", "content": "Mutations in the COL4A1 gene cause familial porencephaly. The COL4A1 gene provides instructions for making one component of a protein called type IV collagen. Type IV collagen molecules attach to each other to form complex protein networks. These protein networks are the main components of basement membranes, which are thin sheet-like structures that separate and support cells in many tissues. Type IV collagen networks play an important role in the basement membranes in virtually all tissues throughout the body, particularly the basement membranes surrounding the body's blood vessels (vasculature). The COL4A1 gene mutations that cause familial porencephaly result in the production of a protein that disrupts the structure of type IV collagen. As a result, type IV collagen molecules cannot attach to each other to form the protein networks in basement membranes. Basement membranes without normal type IV collagen are unstable, leading to weakening of the tissues that they surround. In people with familial porencephaly, the vasculature in the brain weakens, which can lead to blood vessel breakage and hemorrhagic stroke. Bleeding within the brain is followed by the formation of fluid-filled cysts characteristic of this condition. It is thought that the pressure and stress on the head during birth contributes to vessel breakage in people with this condition; however in some individuals, bleeding in the brain can occur before birth.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by cap myopathy ?"}, {"role": "assistant", "content": "Cap myopathy is a rare disorder that has been identified in only a small number of individuals. Its exact prevalence is unknown.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by collagen VI-related myopathy ?"}, {"role": "assistant", "content": "Collagen VI-related myopathy is rare. Bethlem myopathy is estimated to occur in 0.77 per 100,000 individuals, and Ullrich congenital muscular dystrophy is estimated to occur in 0.13 per 100,000 individuals. Only a few cases of the intermediate form have been described in the scientific literature.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Wallenberg's Syndrome ?"}, {"role": "assistant", "content": "Treatment for Wallenberg's syndrome is symptomatic. A feeding tube may be necessary if swallowing is very difficult. Speech/swallowing therapy may be beneficial. In some cases, medication may be used to reduce or eliminate pain. Some doctors report that the anti-epileptic drug gabapentin appears to be an effective medication for individuals with chronic pain.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to Lenz microphthalmia syndrome ?"}, {"role": "assistant", "content": "Mutations in at least two genes on the X chromosome are thought to be responsible for Lenz microphthalmia syndrome. Only one of these genes, BCOR, has been identified. The BCOR gene provides instructions for making a protein called the BCL6 corepressor. This protein helps regulate the activity of other genes. Little is known about the protein's function, although it appears to play an important role in early embryonic development. A mutation in the BCOR gene has been found in one family with Lenz microphthalmia syndrome. This mutation changes the structure of the BCL6 corepressor protein, which disrupts the normal development of the eyes and several other organs and tissues before birth. Researchers are working to determine whether Lenz microphthalmia syndrome is a single disorder with different genetic causes or two very similar disorders, each caused by mutations in a different gene. They are searching for a second gene on the X chromosome that may underlie additional cases of the disorder.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Childhood Liver Cancer ?"}, {"role": "assistant", "content": "Key Points\n - There are different types of treatment for patients with childhood liver cancer. - Children with liver cancer should have their treatment planned by a team of healthcare providers who are experts in treating this rare childhood cancer. - Some cancer treatments cause side effects months or years after treatment has ended. - Six types of standard treatment are used: - Surgery - Watchful waiting - Chemotherapy - Radiation therapy - Ablation therapy - Antiviral treatment - New types of treatment are being tested in clinical trials. - Targeted therapy - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed.\n \n \n There are different types of treatment for patients with childhood liver cancer.\n Different types of treatments are available for children with liver cancer. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Taking part in a clinical trial should be considered for all children with liver cancer. Some clinical trials are open only to patients who have not started treatment.\n \n \n Children with liver cancer should have their treatment planned by a team of healthcare providers who are experts in treating this rare childhood cancer.\n Treatment will be overseen by a pediatric oncologist, a doctor who specializes in treating children with cancer. The pediatric oncologist works with other healthcare providers who are experts in treating children with liver cancer and who specialize in certain areas of medicine. It is especially important to have a pediatric surgeon with experience in liver surgery who can send patients to a liver transplant program if needed. Other specialists may include the following: - Pediatrician. - Radiation oncologist. - Pediatric nurse specialist. - Rehabilitation specialist. - Psychologist. - Social worker.\n \n \n Some cancer treatments cause side effects months or years after treatment has ended.\n Side effects from cancer treatment that begin during or after treatment and continue for months or years are called late effects. Late effects of cancer treatment may include: - Physical problems. - Changes in mood, feelings, thinking, learning, or memory. - Second cancers (new types of cancer). Some late effects may be treated or controlled. It is important to talk with your child's doctors about the effects cancer treatment can have on your child. (See the PDQ summary on Late Effects of Treatment for Childhood Cancer for more information).\n \n \n Six types of standard treatment are used:\n Surgery When possible, the cancer is removed by surgery. - Partial hepatectomy: Removal of the part of the liver where cancer is found. The part removed may be a wedge of tissue, an entire lobe, or a larger part of the liver, along with a small amount of normal tissue around it. - Total hepatectomy and liver transplant: Removal of the entire liver followed by a transplant of a healthy liver from a donor. A liver transplant may be possible when cancer has not spread beyond the liver and a donated liver can be found. If the patient has to wait for a donated liver, other treatment is given as needed. - Resection of metastases: Surgery to remove cancer that has spread outside of the liver, such as to nearby tissues, the lungs, or the brain. Factors that affect the type of surgery used include the following: - The PRETEXT group and POSTTEXT group. - The size of the primary tumor. - Whether there is more than one tumor in the liver. - Whether the cancer has spread to nearby large blood vessels. - The level of alpha-fetoprotein (AFP) in the blood. - Whether the tumor can be shrunk by chemotherapy so that it can be removed by surgery. - Whether a liver transplant is needed. Chemotherapy is sometimes given before surgery, to shrink the tumor and make it easier to remove. This is called neoadjuvant therapy. Even if the doctor removes all the cancer that can be seen at the time of the surgery, some patients may be given chemotherapy or radiation therapy after surgery to kill any cancer cells that are left. Treatment given after the surgery, to lower the risk that the cancer will come back, is called adjuvant therapy. Watchful waiting Watchful waiting is closely monitoring a patients condition without giving any treatment until signs or symptoms appear or change. In hepatoblastoma, this treatment is only used for small tumors that have been completely removed by surgery. Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). Treatment using more than one anticancer drug is called combination chemotherapy. Chemoembolization of the hepatic artery (the main artery that supplies blood to the liver) is a type of regional chemotherapy used to treat childhood liver cancer. The anticancer drug is injected into the hepatic artery through a catheter (thin tube). The drug is mixed with a substance that blocks the artery, cutting off blood flow to the tumor. Most of the anticancer drug is trapped near the tumor and only a small amount of the drug reaches other parts of the body. The blockage may be temporary or permanent, depending on the substance used to block the artery. The tumor is prevented from getting the oxygen and nutrients it needs to grow. The liver continues to receive blood from the hepatic portal vein, which carries blood from the stomach and intestine. This procedure is also called transarterial chemoembolization or TACE. The way the chemotherapy is given depends on the type of the cancer being treated and the PRETEXT or POSTTEXT group. Radiation therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy: - External radiation therapy uses a machine outside the body to send radiation toward the cancer. - Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. The way the radiation therapy is given depends on the type of the cancer being treated and the PRETEXT or POSTTEXT group. Radioembolization of the hepatic artery (the main artery that supplies blood to the liver) is a type of internal radiation therapy used to treat hepatocellular carcinoma. A very small amount of a radioactive substance is attached to tiny beads that are injected into the hepatic artery through a catheter (thin tube). The beads are mixed with a substance that blocks the artery, cutting off blood flow to the tumor. Most of the radiation is trapped near the tumor to kill the cancer cells. This is done to relieve symptoms and improve quality of life for children with hepatocellular carcinoma. External radiation therapy is used to treat hepatoblastoma that cannot be removed by surgery or has spread to other parts of the body. Ablation therapy Ablation therapy removes or destroys tissue. Different types of ablation therapy are used for liver cancer: - Radiofrequency ablation: The use of special needles that are inserted directly through the skin or through an incision in the abdomen to reach the tumor. High-energy radio waves heat the needles and tumor which kills cancer cells. Radiofrequency ablation is being used to treat recurrent hepatoblastoma. - Percutaneous ethanol injection: A small needle is used to inject ethanol (pure alcohol) directly into a tumor to kill cancer cells. Several treatments may be needed. Percutaneous ethanol injection is being used to treat recurrent hepatoblastoma. Antiviral treatment Hepatocellular carcinoma that is linked to the hepatitis B virus may be treated with antiviral drugs.\n \n \n New types of treatment are being tested in clinical trials.\n This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. Targeted therapy Targeted therapy is a type of treatment that uses drugs or other substances to attack specific cancer cells. Targeted therapies usually cause less harm to normal cells than chemotherapy or radiation therapy do. Targeted therapy is being studied for the treatment of undifferentiated embryonal sarcoma of the liver and liver cancer that has come back.\n \n \n Patients may want to think about taking part in a clinical trial.\n For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward.\n \n \n Patients can enter clinical trials before, during, or after starting their cancer treatment.\n Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.\n \n \n Follow-up tests may be needed.\n Some of the tests that were done to diagnose the cancer or to find out the treatment group may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups.\n \n\t\t \n\t\t Treatment Options for Childhood Liver Cancer\n\t\t \n\t\t \n\t\t Hepatoblastoma\n\t\t Treatment options for hepatoblastoma that can be removed by surgery at the time of diagnosis may include the following: - Surgery to remove the tumor, followed by watchful waiting or chemotherapy, for hepatoblastoma with pure fetal histology. - Surgery to remove the tumor, with combination chemotherapy given either before surgery, after surgery, or both, for hepatoblastoma that is not pure fetal histology. For hepatoblastoma with small cell undifferentiated histology, aggressive chemotherapy is given. Treatment options for hepatoblastoma that cannot be removed by surgery or is not removed at the time of diagnosis may include the following: - Combination chemotherapy to shrink the tumor, followed by surgery to remove the tumor. - Combination chemotherapy followed by a liver transplant. - Chemoembolization of the hepatic artery to shrink the tumor, followed by surgery to remove the tumor. For hepatoblastoma that has spread to other parts of the body at the time of diagnosis, combination chemotherapy is given to shrink the cancer in the liver and cancer that has spread to other parts of the body. After chemotherapy, imaging tests are done to check whether the cancer can be removed by surgery. Treatment options may include the following: - If the cancer in the liver and other parts of the body can be removed, surgery will be done to remove the tumors followed by chemotherapy to kill any cancer cells that may remain. - If the cancer in the liver cannot be removed by surgery but there are no signs of cancer in other parts of the body, the treatment may be a liver transplant. - If the cancer in other parts of the body cannot be removed or a liver transplant is not possible, chemotherapy, chemoembolization of the hepatic artery, or radiation therapy may be given. Treatment options in clinical trials for newly diagnosed hepatoblastoma include: - A clinical trial of new treatment regimens based on how likely it is the cancer will recur after initial treatment.\n\t\t \n\t\t \n\t\t Hepatocellular Carcinoma\n\t\t Treatment options for hepatocellular carcinoma that can be removed by surgery at the time of diagnosis may include the following: - Surgery alone to remove the tumor. - Surgery to remove the tumor, followed by chemotherapy. - Combination chemotherapy followed by surgery to remove the tumor. Treatment options for hepatocellular carcinoma that cannot be removed by surgery at the time of diagnosis may include the following: - Chemotherapy to shrink the tumor, followed by surgery to completely remove the tumor. - Chemotherapy to shrink the tumor. If surgery to completely remove the tumor is not possible, further treatment may include the following: - Liver transplant. - Chemoembolization of the hepatic artery to shrink the tumor, followed by surgery to remove as much of the tumor as possible or liver transplant. - Chemoembolization of the hepatic artery alone. - Radioembolization of the hepatic artery as palliative therapy to relieve symptoms and improve the quality of life. Treatment for hepatocellular carcinoma that has spread to other parts of the body at the time of diagnosis may include: - Combination chemotherapy to shrink the tumor, followed by surgery to remove as much of the tumor as possible from the liver and other places where cancer has spread. Studies have not shown that this treatment works well but some patients may have some benefit. Treatment options for hepatocellular carcinoma related to hepatitis B virus (HBV) infection include: - Surgery to remove the tumor. - Antiviral drugs that treat infection caused by the hepatitis B virus.\n\t\t \n\t\t \n\t\t Undifferentiated Embryonal Sarcoma of the Liver\n\t\t Treatment options for undifferentiated embryonal sarcoma of the liver (UESL) may include the following: - Combination chemotherapy to shrink the tumor, followed by surgery to remove as much of the tumor as possible. Chemotherapy may also be given after surgery to remove the tumor. - Surgery to remove the tumor followed by chemotherapy. A second surgery may be done to remove tumor that remains, followed by more chemotherapy. - Liver transplant if surgery to remove the tumor is not possible. - A clinical trial of a combination of targeted therapy, chemotherapy and/or radiation therapy before surgery.\n\t\t \n\t\t \n\t\t Infantile Choriocarcinoma of the Liver\n\t\t Treatment options for choriocarcinoma of the liver in infants may include the following: - Combination chemotherapy to shrink the tumor, followed by surgery to remove the tumor. - Surgery to remove the tumor.\n\t\t \n\t\t \n\t\t Recurrent Childhood Liver Cancer\n\t\t Treatment of recurrent hepatoblastoma may include the following: - Surgery to remove isolated (single and separate) metastatic tumors with or without chemotherapy. - Combination chemotherapy. - Liver transplant. - Ablation therapy (radiofrequency ablation or percutaneous ethanol injection). - A clinical trial of a new treatment. Treatment of progressive or recurrent hepatocellular carcinoma may include the following: - Chemoembolization of the hepatic artery to shrink the tumor before liver transplant. - Liver transplant. - A clinical trial of a new treatment.\n\t\t \n\t\t \n\t\t Treatment Options in Clinical Trials\n\t\t Check the list of NCI-supported cancer clinical trials that are now accepting patients with childhood liver cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your child's doctor about clinical trials that may be right for your child. General information about clinical trials is available from the NCI website.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Filippi syndrome ?"}, {"role": "assistant", "content": "Filippi syndrome is an extremely rare genetic condition characterized by a small head (microcephaly), webbing of the fingers and toes (syndactyly), intellectual disability, growth delay, and distinctive facial features (high and broad nasal bridge, thin nostrils, small chin or micrognathia, and a high frontal hairline). Other features can include undescended testicles in males, extra fingers (polydactyly), as well as teeth and hair abnormalities. So far, less than 25 cases have been reported in the medical literature. This condition is inherited in an autosomal recessive fashion. The exact underlying genetic cause is not known.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "what research (or clinical trials) is being done for Canavan Disease ?"}, {"role": "assistant", "content": "The gene for Canavan disease has been located. Many laboratories offer prenatal screening for this disorder to populations at risk. Scientists have developed animal models for this disease and are using the models to test potential therapeutic strategies. Three strategies are currently under investigation: gene transfer to the brain in order to replace the mutated gene for the enzyme; metabolic therapy to provide a crucial missing metabolite (acetate); and enzyme therapy where the enzyme aspartoacylase is engineered to be able to enter the brain and is injected in the the blood stream. Encouraging results have been obtained using these strategies.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by atelosteogenesis type 2 ?"}, {"role": "assistant", "content": "Atelosteogenesis type 2 is an extremely rare genetic disorder; its incidence is unknown.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to prevent Kyasanur Forest Disease (KFD) ?"}, {"role": "assistant", "content": "A vaccine does exist for KFD and is used in endemic areas of India. Additional preventative measures include insect repellents and wearing protective clothing in areas where ticks are endemic.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Mitochondrial complex II deficiency inherited ?"}, {"role": "assistant", "content": "What causes mitochondrial complex II deficiency? Many genes must work together to ensure that the enzyme, complex II (succinate dehydrogenase), can perform its job normally in the body. Changes in the SDHA, SDHB, SDHC, SDHD, SDHAF1, and SDHAF2 genes can all potentially cause complex II deficiency. Complex II deficiency is inherited in an autosomal recessive fashion. This means that a person must inherit a gene mutation from both their mother and father in order to develop complex II deficiency. People who have a single mutation are called carriers. Carriers of complex II deficiency may be at an increased risk for certain health problems, including for paragangliomas and/or pheochromocytomas.[8676]", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Sneddon syndrome ?"}, {"role": "assistant", "content": "Sneddon syndrome is a progressive condition characterized by livedo reticularis (bluish net-like patterns of discoloration on the skin) and neurological abnormalities. Symptoms may include headache, dizziness, high blood pressure, heart disease, mini-strokes and/or stroke. Reduced blood flow to the brain may cause lesions to develop within the central nervous system. This can lead to reduced mental capacity, memory loss and other neurological symptoms. The exact cause of Sneddon syndrome is unknown. Some familial cases have been described. It has also been associated with obliterating vasculitis and antiphospholipid antibody syndrome.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Do you have information about Children's Page"}, {"role": "assistant", "content": "Summary : Kids, this page is for you. Learn about everything from how the body works to what happens when you go to the hospital. There are quizzes, games and lots of cool web sites for you to explore. Have fun!", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Kidney Stones in Adults ?"}, {"role": "assistant", "content": "A kidney stone is a solid piece of material that forms in a kidney when substances that are normally found in the urine become highly concentrated. A stone may stay in the kidney or travel down the urinary tract. Kidney stones vary in size. A small stone may pass on its own, causing little or no pain. A larger stone may get stuck along the urinary tract and can block the flow of urine, causing severe pain or bleeding.\n \nKidney stones are one of the most common disorders of the urinary tract. Each year in the United States, people make more than a million visits to health care providers and more than 300,000 people go to emergency rooms for kidney stone problems.1\n \nUrolithiasis is the medical term used to describe stones occurring in the urinary tract. Other frequently used terms are urinary tract stone disease and nephrolithiasis. Terms that describe the location of the stone in the urinary tract are sometimes used. For example, a ureteral stoneor ureterolithiasisis a kidney stone found in the ureter.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Febrile Ulceronecrotic Mucha-Habermann disease ?"}, {"role": "assistant", "content": "What are the signs and symptoms of febrile ulceronecrotic Mucha-Habermann disease? Initial symptoms of FUMHD include red scaly skin legions (papules) that ulcerate, breakdown, form open sores, then a red-brown crust (i.e., PLEVA). In FUMHD the legions suddenly progress to large, destructive ulcers and can be associated with extensive, painful loss of skin tissue. The skin lesions can become infected which may cause pus and a putrid odor. The rate of progression from PLEVA to FUMHD varies among reports but may be days to weeks. Some cases go straight to FUMHD rather than progress from PLEVA. FUMHD is often associated with high fever (up to 104F) that may be persistant or come and go. Other symptoms may include feeling ill, sore throat, congestion, muscle soreness or pain, joint pain, diarrhea, central nervous system symptoms, abdominal pain, enlarged spleen, arthritis, megaloblastic anemia, interstitial pneumonitis (scarring or thickening of the lungs), lymphocytic (viral) myocarditis, and sepsis. FUMHD can become life threatening.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Skin Cancer ?"}, {"role": "assistant", "content": "Melanoma is the fastest growing and most invasive type of skin cancer. This cancer arises from overgrowth of melanocytes. Melanocytes are specialized skin cells that produce a pigment called melanin.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Leber congenital amaurosis inherited ?"}, {"role": "assistant", "content": "Leber congenital amaurosis usually has an autosomal recessive pattern of inheritance. Autosomal recessive inheritance means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. When Leber congenital amaurosis is caused by mutations in the CRX or IMPDH1 genes, the disorder has an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means one copy of the altered gene in each cell is sufficient to cause the disorder. In most of these cases, an affected person inherits a gene mutation from one affected parent. Other cases result from new mutations and occur in people with no history of the disorder in their family.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What to do for What I need to know about Cirrhosis ?"}, {"role": "assistant", "content": "- Cirrhosis is scarring of the liver. Scar tissue replaces healthy liver tissue. - Some common causes of cirrhosis include heavy alcohol use, hepatitis infections, and nonalcoholic fatty liver disease. - In the early stages of cirrhosis, you may have no symptoms. As the disease gets worse, cirrhosis can cause serious problems. - Once you have cirrhosis, nothing can make all the scar tissue go away. But treatment can prevent cirrhosis from getting worse. - If too much scar tissue forms and your liver fails, you will need a liver transplant. - You can take steps to prevent cirrhosis or keep it from getting worse.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Peripheral Arterial Disease (P.A.D.) ?"}, {"role": "assistant", "content": "The most common cause of P.A.D. is atherosclerosis, a buildup of plaque in the arteries. Over time, plaque can harden and narrow the arteries. This limits the flow of oxygen-rich blood to your organs and other parts of your body.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Yellow nail syndrome ?"}, {"role": "assistant", "content": "Has a genetic cause of familial yellow nail syndrome been discovered? The exact cause of yellow nail syndrome remains unclear. There have been reports of several members in the same family being affected with this condition and also reports of children being affected at young ages. These reports have been used to suggest the possibility a genetic component to yellow nail syndrome. However, the possibility of a genetic cause for yellow nail syndrome remains a subject of debate, as most cases of this condition occur by chance in individuals who do not have a family history of this condition. Unfortunately, because there are so few cases of familial yellow nail syndrome, there is limited information and currently no known research about possible genetic causes.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Milroy disease inherited ?"}, {"role": "assistant", "content": "Milroy disease is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In many cases, an affected person inherits the mutation from one affected parent. Other cases may result from new mutations in the FLT4 gene. These cases occur in people with no history of the disorder in their family. About 10 percent to 15 percent of people with a mutation in the FLT4 gene do not develop the features of Milroy disease.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Konigsmark Knox Hussels syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Konigsmark Knox Hussels syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Konigsmark Knox Hussels syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Ataxia 5% Abnormal amplitude of pattern reversal visual evoked potentials - Abnormal auditory evoked potentials - Autosomal dominant inheritance - Central scotoma - Centrocecal scotoma - Horizontal nystagmus - Increased variability in muscle fiber diameter - Myopathy - Ophthalmoplegia - Optic atrophy - Peripheral neuropathy - Phenotypic variability - Progressive sensorineural hearing impairment - Ptosis - Red-green dyschromatopsia - Reduced visual acuity - Strabismus - Tritanomaly - Visual impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Coronary Heart Disease ?"}, {"role": "assistant", "content": "Your doctor will diagnose coronary heart disease (CHD) based on your medical and family histories, your risk factors for CHD, a physical exam, and the results from tests and procedures.\n \nNo single test can diagnose CHD. If your doctor thinks you have CHD, he or she may recommend one or more of the following tests.\n \nEKG (Electrocardiogram)\n \nAn EKG is a simple, painless test that detects and records the heart's electrical activity. The test shows how fast the heart is beating and its rhythm (steady or irregular). An EKG also records the strength and timing of electrical signals as they pass through the heart.\n \nAn EKG can show signs of heart damage due to CHD and signs of a previous or current heart attack.\n \nStress Testing\n \nDuring stress testing, you exercise to make your heart work hard and beat fast while heart tests are done. If you can't exercise, you may be given medicine to raise your heart rate.\n \nWhen your heart is working hard and beating fast, it needs more blood and oxygen. Plaque-narrowed arteries can't supply enough oxygen-rich blood to meet your heart's needs.\n \nA stress test can show possible signs and symptoms of CHD, such as:\n \nAbnormal changes in your heart rate or blood pressure\n \nShortness of breath or chest pain\n \nAbnormal changes in your heart rhythm or your heart's electrical activity\n \nIf you can't exercise for as long as what is considered normal for someone your age, your heart may not be getting enough oxygen-rich blood. However, other factors also can prevent you from exercising long enough (for example, lung diseases, anemia, or poor general fitness).\n \nAs part of some stress tests, pictures are taken of your heart while you exercise and while you rest. These imaging stress tests can show how well blood is flowing in your heart and how well your heart pumps blood when it beats.\n \nEchocardiography\n \nEchocardiography(echo) uses sound waves to create a moving picture of your heart. The picture shows the size and shape of your heart and how well your heart chambers and valves are working.\n \nEcho also can show areas of poor blood flow to the heart, areas of heart muscle that aren't contracting normally, and previous injury to the heart muscle caused by poor blood flow.\n \nChest X Ray\n \nA chest x ray takes pictures of the organs and structures inside your chest, such as your heart, lungs, and blood vessels.\n \nA chest x ray can reveal signs of heart failure, as well as lung disorders and other causes of symptoms not related to CHD.\n \nBlood Tests\n \nBlood tests check the levels of certain fats, cholesterol, sugar, and proteins in your blood. Abnormal levels might be a sign that you're at risk for CHD.\n \nCoronary Angiography and Cardiac Catheterization\n \nYour doctor may recommend coronary angiography (an-jee-OG-rah-fee) if other tests or factors show that you're likely to have CHD. This test uses dye and special x rays to show the insides of your coronary arteries.\n \nTo get the dye into your coronary arteries, your doctor will use a procedure called cardiac catheterization (KATH-eh-ter-ih-ZA-shun).\n \nA thin, flexible tube called a catheter is put into a blood vessel in your arm, groin (upper thigh), or neck. The tube is threaded into your coronary arteries, and the dye is released into your bloodstream.\n \nSpecial x rays are taken while the dye is flowing through your coronary arteries. The dye lets your doctor study the flow of blood through your heart and blood vessels.\n \nCardiac catheterization usually is done in a hospital. You're awake during the procedure. It usually causes little or no pain, although you may feel some soreness in the blood vessel where your doctor inserts the catheter.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Anemia ?"}, {"role": "assistant", "content": "The most common symptom of anemia is fatigue (feeling tired or weak). If you have anemia, you may find it hard to find the energy to do normal activities.\n \nOther signs and symptoms of anemia include:\n \nShortness of breath\n \nDizziness\n \nHeadache\n \nColdness in the hands and feet\n \nPale skin\n \nChest pain\n \nThese signs and symptoms can occur because your heart has to work harder to pump oxygen-rich blood through your body.\n \nMild to moderate anemia may cause very mild symptoms or none at all.\n \nComplications of Anemia\n \nSome people who have anemia may have arrhythmias (ah-RITH-me-ahs). Arrhythmias are problems with the rate or rhythm of the heartbeat. Over time, arrhythmias can damage your heart and possibly lead to heart failure.\n \nAnemia also can damage other organs in your body because your blood can't get enough oxygen to them.\n \nAnemia can weaken people who have cancer or HIV/AIDS. This can make their treatments not work as well.\n \nAnemia also can cause many other health problems. People who have kidney disease and anemia are more likely to have heart problems. With some types of anemia, too little fluid intake or too much loss of fluid in the blood and body can occur. Severe loss of fluid can be life threatening.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Loin pain hematuria syndrome ?"}, {"role": "assistant", "content": "How might loin pain hematuria syndrome be treated? Treatment of loin pain hematuria syndrome (LPHS) typically consists of pain management. Narcotics or oral opioids may be prescribed to help control pain. Patients with severe pain may need high-dose opioids daily and may occasionally require hospitalization for intravenous pain relievers and control of nausea. Limited evidence suggests that drugs that inhibit angiotensin may reduce the frequency and severity of episodes of loin pain and severe hematuria. People with debilitating pain who do not respond to other therapies may be offered surgery (i.e. a nerve block, nephrectomy, kidney auto-transplantation); however, surgical treatment of LPHS is controversial as studies suggest that it has limited value for treating recurrent pain.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Cold urticaria ?"}, {"role": "assistant", "content": "What causes cold urticaria? In most cases of cold urticaria, the underlying cause is poorly understood. Although the symptoms are triggered by exposure of the skin to the cold (most often when the temperature is lower than 39 degrees Fahrenheit), it is unclear why this exposure leads to such a significant reaction. Rarely, cold urticaria is associated with blood conditions or infectious disease such as cryoglobulinemia, chronic lymphocytic leukaemia, lymphosarcoma, chicken pox, viral hepatitis, and mononucleosis.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Shwachman-Diamond syndrome ?"}, {"role": "assistant", "content": "Shwachman-Diamond syndrome is an inherited condition that affects many parts of the body, particularly the bone marrow, pancreas, and skeletal system. The major function of bone marrow is to produce new blood cells. These include red blood cells, which carry oxygen to the body's tissues; white blood cells, which fight infection; and platelets, which are necessary for normal blood clotting. In Shwachman-Diamond syndrome, the bone marrow malfunctions and does not make some or all types of white blood cells. A shortage of neutrophils, the most common type of white blood cell, causes a condition called neutropenia. Most people with Shwachman-Diamond syndrome have at least occasional episodes of neutropenia, which makes them more vulnerable to infections such as pneumonia, recurrent ear infections (otitis media), and skin infections. Less commonly, bone marrow abnormalities lead to a shortage of red blood cells (anemia), which causes fatigue and weakness, or a reduction in the amount of platelets (thrombocytopenia), which can result in easy bruising and abnormal bleeding. People with Shwachman-Diamond syndrome have an increased risk of several serious complications related to their malfunctioning bone marrow. Specifically, they have a higher-than-average chance of developing myelodysplastic syndrome (MDS) and aplastic anemia, which are disorders that affect blood cell production, and a cancer of blood-forming tissue known as acute myeloid leukemia (AML). Shwachman-Diamond syndrome also affects the pancreas, which is an organ that plays an essential role in digestion. One of this organ's main functions is to produce enzymes that help break down and use the nutrients from food. In most infants with Shwachman-Diamond syndrome, the pancreas does not produce enough of these enzymes. This condition is known as pancreatic insufficiency. Infants with pancreatic insufficiency have trouble digesting food and absorbing nutrients that are needed for growth. As a result, they often have fatty, foul-smelling stools (steatorrhea); are slow to grow and gain weight (failure to thrive); and experience malnutrition. Pancreatic insufficiency often improves with age in people with Shwachman-Diamond syndrome. Skeletal abnormalities are another common feature of Shwachman-Diamond syndrome. Many affected individuals have problems with bone formation and growth, most often affecting the hips and knees. Low bone density is also frequently associated with this condition. Some infants are born with a narrow rib cage and short ribs, which can cause life-threatening problems with breathing. The combination of skeletal abnormalities and slow growth results in short stature in most people with this disorder. The complications of this condition can affect several other parts of the body, including the liver, heart, endocrine system (which produces hormones), eyes, teeth, and skin. Additionally, studies suggest that Shwachman-Diamond syndrome may be associated with delayed speech and the delayed development of motor skills such as sitting, standing, and walking.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Kennedy's Disease ?"}, {"role": "assistant", "content": "Kennedy's disease is an inherited motor neuron disease that affects males. It is one of a group of disorders called lower motor neuron disorders (which involve disruptions in the transmission of nerve cell signals in the brain to nerve cells in the brain stem and spinal cord). Onset of the disease is usually between the ages of 20 and 40, although it has been diagnosed in men from their teens to their 70s. Early symptoms include tremor of the outstretched hands, muscle cramps with exertion, and fasciculations (fleeting muscle twitches visible under the skin). Eventually, individuals develop limb weakness which usually begins in the pelvic or shoulder regions. Weakness of the facial and tongue muscles may occur later in the course of the disease and often leads to dysphagia (difficulty in swallowing), dysarthria (slurring of speech), and recurrent aspiration pneumonia. Some individuals develop gynecomastia (excessive enlargement of male breasts) and low sperm count or infertility. Still others develop non-insulin-dependent diabetes mellitus.\n \nKennedy's disease is an x-linked recessive disease, which means the patient's mother carries the defective gene on one of her X chromosomes. Daughters of patients with Kennedy's disease are also carriers and have a 1 in 2 chance of having a son affected with the disease. Parents with concerns about their children may wish to talk to a genetic counselor.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Rheumatic Fever inherited ?"}, {"role": "assistant", "content": "Is rheumatic fever inherited? Rheumatic fever is likely inherited in a multifactorial manner, which means it is caused by multiple genes interacting with each other and with environmental factors. The condition is thought to occur in genetically susceptible children who are infected with group A Streptococcus bacteria and live in poor social conditions. Some studies suggest that differences in the expression of various genes involved in the immune response may contribute to rheumatic fever susceptibility.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Holes in the Heart ?"}, {"role": "assistant", "content": "Holes in the heart are simple congenital (kon-JEN-ih-tal) heart defects. Congenital heart defects are problems with the heart's structure that are present at birth. These defects change the normal flow of blood through the heart.\n \nThe heart has two sides, separated by an inner wall called the septum. With each heartbeat, the right side of the heart receives oxygen-poor blood from the body and pumps it to the lungs. The left side of the heart receives oxygen-rich blood from the lungs and pumps it to the body.\n \nThe septum prevents mixing of blood between the two sides of the heart. However, some babies are born with holes in the upper or lower septum.\n \nA hole in the septum between the heart's two upper chambers is called an atrial septal defect (ASD). A hole in the septum between the heart's two lower chambers is called a ventricular septal defect (VSD).\n \nASDs and VSDs allow blood to pass from the left side of the heart to the right side. Thus, oxygen-rich blood mixes with oxygen-poor blood. As a result, some oxygen-rich blood is pumped to the lungs instead of the body.\n \nOver the past few decades, the diagnosis and treatment of ASDs and VSDs have greatly improved. Children who have simple congenital heart defects can survive to adulthood. They can live normal, active lives because their heart defects close on their own or have been repaired.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Who is at risk for Ovarian, Fallopian Tube, and Primary Peritoneal Cancer? ?"}, {"role": "assistant", "content": "Different factors increase or decrease the risk of getting ovarian, fallopian tube, and primary peritoneal cancer.\n\t \tAnything that increases your chance of getting a disease is called a risk factor. Anything that decreases your chance of getting a disease is called a protective factor. For information about risk factors and protective factors for ovarian cancer, see the Ovarian, Fallopian Tube, and Primary Peritoneal Cancer Prevention summary. Talk to your doctor about your risk of ovarian cancer.\n\t \t\n \t\t\n\t\t Screening tests have risks.\n\t\t Decisions about screening tests can be difficult. Not all screening tests are helpful and most have risks. Before having any screening test, you may want to talk about the test with your doctor. It is important to know the risks of the test and whether it has been proven to reduce the risk of dying from cancer.\n\t\t \n\t\t \n\t\t The risks of ovarian, fallopian tube, and primary peritoneal cancer screening tests include the following:\n\t\t Finding ovarian, fallopian tube, and primary peritoneal cancer may not improve health or help a woman live longer. Screening may not improve your health or help you live longer if you have advanced ovarian cancer or if it has already spread to other places in your body. False-negative test results can occur. Screening test results may appear to be normal even though ovarian cancer is present. A woman who receives a false-negative test result (one that shows there is no cancer when there really is) may delay seeking medical care even if she has symptoms. False-positive test results can occur. Screening test results may appear to be abnormal even though no cancer is present. A false-positive test result (one that shows there is cancer when there really isn't) can cause anxiety and is usually followed by more tests (such as a laparoscopy or a laparotomy to see if cancer is present), which also have risks. Problems caused by tests used to diagnose ovarian cancer include infection, blood loss, bowel injury, and heart and blood vessel problems. A false-positive test result can also lead to an unneeded oophorectomy (removal of one or both ovaries).", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What to do for Childhood Nephrotic Syndrome ?"}, {"role": "assistant", "content": "Children who have nephrotic syndrome may need to make changes to their diet, such as\n \n- limiting the amount of sodium, often from salt, they take in each day - reducing the amount of liquids they drink each day - eating a diet low in saturated fat and cholesterol to help control elevated cholesterol levels\n \nParents or caretakers should talk with the childs health care provider before making any changes to the childs diet.\n \nMore information is provided in the NIDDK health topic, Nutrition for Chronic Kidney Disease in Children.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to Perry syndrome ?"}, {"role": "assistant", "content": "Perry syndrome results from mutations in the DCTN1 gene. This gene provides instructions for making a protein called dynactin-1, which is involved in the transport of materials within cells. To move materials, dynactin-1 interacts with other proteins and with a track-like system of small tubes called microtubules. These components work together like a conveyer belt to move materials within cells. This transport system appears to be particularly important for the normal function and survival of nerve cells (neurons) in the brain. Mutations in the DCTN1 gene alter the structure of dynactin-1, making it less able to attach (bind) to microtubules and transport materials within cells. This abnormality causes neurons to malfunction and ultimately die. A gradual loss of neurons in areas of the brain that regulate movement, emotion, and breathing underlies the signs and symptoms of Perry syndrome.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Balance Problems ?"}, {"role": "assistant", "content": "You can help your doctor make a diagnosis by writing down key information about your dizziness or balance problem beforehand and giving the information to your doctor during the visit. Write down answers to these questions for your doctor: - How would you describe your dizziness or balance problem? - If the room is spinning around you, which ways does it appear to turn? - How often do you have dizziness or balance problems? - Have you ever fallen? - If so, when did you fall, where did you fall, and how often have you fallen? Tell your doctor as much as you can. - What medications do you take? Remember to include all over-the-counter medicines, including aspirin, antihistamines, or sleep aids. - What is the name of the medication? - How much medication do you take each day? - What times of the day do you take the medication? - What is the health condition for which you take the medication? How would you describe your dizziness or balance problem? If the room is spinning around you, which ways does it appear to turn? How often do you have dizziness or balance problems? Have you ever fallen? If so, when did you fall, where did you fall, and how often have you fallen? Tell your doctor as much as you can. What medications do you take? Remember to include all over-the-counter medicines, including aspirin, antihistamines, or sleep aids. What is the name of the medication? How much medication do you take each day? What times of the day do you take the medication? What is the health condition for which you take the medication? See a video on describing symptoms and health concerns during a doctor visit.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Hereditary cerebral hemorrhage with amyloidosis ?"}, {"role": "assistant", "content": "How might hereditary cerebral hemorrhage with amyloidosis - Dutch type be treated? There is no known effective treatment for hereditary cerebral hemorrhage with amyloidosis - Dutch type. Treatment is supportive and based on the control of symptoms. In some cases, rehabilitation is needed for weakness or clumsiness. This can include physical, occupational, or speech therapy. Occasionally, some patients are good candidates for medications that can help improve memory. The management of intracranial hemorrhage (ICH) related to hereditary cerebral hemorrhage with amyloidosis - Dutch type is identical to the standard management of ICH. The main objectives include reversing anticoagulation, managing intracranial pressure, and preventing complications.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Intrahepatic cholestasis of pregnancy ?"}, {"role": "assistant", "content": "What causes intrahepatic cholestasis of pregnancy? Largely, the cause of intrahepatic cholestasis of pregnancy (ICP) is unknown. ICP is present in approximately 1% of pregnancies in the United States. It is thought to be caused by a mixture of genetic, hormonal, and environmental factors. Risk factors include: A personal or family history of cholestasis of pregnancy A history of liver disease A multiple gestation pregnancy (twins, triplets, etc) Approximately 15% of women with ICP have a mutation in either the ABCB11 orABCB4 gene. Mutations within these genes increase the likelihood that a woman will develop ICP. Mutations within the ABCB11 and ABCB4 gene(s) are inherited in an autosomal dominant manner. This means that in order to be affected, a person only needs a change in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations within the gene. A person with a mutation in either theABCB11 or ABCB4 gene has a 50% chance with each pregnancy of passing along the altered gene to his or her child.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Who is at risk for Sudden Cardiac Arrest? ?"}, {"role": "assistant", "content": "The risk of sudden cardiac arrest (SCA) increases:\n \nWith age\n \nIf you are a man. Men are more likely than women to have SCA.\n \nSome studies show that blacksparticularly those with underlying conditions such as diabetes, high blood pressure, heart failure, and chronic kidney disease or certain cardiac findings on tests such as an electrocardiogramhave a higher risk forSCA.\n \nMajor Risk Factor\n \nThe major risk factor for SCA is coronary heart disease. Most people who have SCA have some degree of coronary heart disease; however, many people may not know that they have coronary heart disease until SCA occurs. Usually their coronary heart disease is silentthat is, it has no signs or symptoms. Because of this, doctors and nurses have not detected it.\n \nMany people who have SCA also have silent, or undiagnosed, heart attacks before sudden cardiac arrest happens. These people have no clear signs of heart attack, and they dont even realize that theyve had one. Read more about coronary heart disease risk factors.\n \nOther Risk Factors\n \nOther risk factors for SCA include:\n \nA personal history of arrhythmias\n \nA personal or family history of SCA or inherited disorders that make you prone toarrhythmias\n \nDrug or alcohol abuse\n \nHeart attack\n \nHeart failure", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Muscular dystrophy, congenital, merosin-positive ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Muscular dystrophy, congenital, merosin-positive? The Human Phenotype Ontology provides the following list of signs and symptoms for Muscular dystrophy, congenital, merosin-positive. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Congenital muscular dystrophy - Congenital onset - Decreased fetal movement - Facial palsy - Flexion contracture - Increased variability in muscle fiber diameter - Joint laxity - Mildly elevated creatine phosphokinase - Myopathy - Neck muscle weakness - Neonatal hypotonia - Proximal muscle weakness - Respiratory insufficiency due to muscle weakness - Scoliosis - Shoulder girdle muscle weakness - Variable expressivity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Alexander Disease ?"}, {"role": "assistant", "content": "There is no cure for Alexander disease, nor is there a standard course of treatment. Treatment of Alexander disease is symptomatic and supportive.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Dominant dystrophic epidermolysis bullosa ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Dominant dystrophic epidermolysis bullosa? Dominant dystrophic epidermolysis bullosa (DDEB) is consivered to be a more mild form of dystrophic epidermolysis bullosa (DEB). Blistering is often limited to the hands, feet, knees, and elbows. Blistering may be relatively benign, but still heals with scarring and milia. Dystrophic nails, especially toenails, are common and loss of nails may occur. In the mildest forms, dystrophic nails may be the only characteristic noted. Blistering in DDEB often improves somewhat with age. The Human Phenotype Ontology provides the following list of signs and symptoms for Dominant dystrophic epidermolysis bullosa. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal blistering of the skin 90% Abnormality of the fingernails 90% Abnormality of the toenails 90% Cheilitis 90% Carious teeth 50% Hypopigmented skin patches 50% Abnormal renal physiology 7.5% Abnormality of the urethra 7.5% Anemia 7.5% Corneal erosion 7.5% Feeding difficulties in infancy 7.5% Tracheoesophageal fistula 7.5% Atrophic scars - Autosomal dominant inheritance - Congenital onset - Milia - Nail dysplasia - Nail dystrophy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Adenoameloblastoma ?"}, {"role": "assistant", "content": "What causes adenoameloblastoma? Currently the cause of adenoameloblastoma is not well understood. It may be associated with an interruption in tooth development. These legions tend to occur more commonly in young people (around 20 year-old), and most often in young women. Adenoameloblastomas in the front upper jaw are often associated with an impacted tooth.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Buerger disease ?"}, {"role": "assistant", "content": "What causes Buerger disease? Buerger disease has a strong relationship to cigarette smoking. This association may be due to direct poisioning of cells from some component of tobacco, or by hypersensitivity to the same components. Many people with Buerger disease will show hypersensitivities to injection of tobacco extracts into their skin. There may be a genetic component to susceptibility to Buerger disease as well. It is possible that these genetic influences account for the higher prevalence of Buerger disease in people of Israeli, Indian subcontinent, and Japanese descent. Certain HLA (human leukocyte antigen) haplotypes have also been found in association with Buerger disease.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Cystic Fibrosis ?"}, {"role": "assistant", "content": "Cystic fibrosis (SIS-tik fi-BRO-sis), or CF, is an inherited disease of the secretory (see-KREH-tor-ee) glands. Secretory glands include glands that make mucus and sweat.\n \n\"Inherited\" means the disease is passed from parents to children through genes. People who have CF inherit two faulty genes for the diseaseone from each parent. The parents likely don't have the disease themselves.\n \nCF mainly affects the lungs, pancreas, liver, intestines, sinuses, and sex organs.\n \nOverview\n \nMucus is a substance made by tissues that line some organs and body cavities, such as the lungs and nose. Normally, mucus is a slippery, watery substance. It keeps the linings of certain organs moist and prevents them from drying out or getting infected.\n \nIf you have CF, your mucus becomes thick and sticky. It builds up in your lungs and blocks your airways. (Airways are tubes that carry air in and out of your lungs.)\n \nThe buildup of mucus makes it easy for bacteria to grow. This leads to repeated, serious lung infections. Over time, these infections can severely damage your lungs.\n \nThe thick, sticky mucus also can block tubes, or ducts, in your pancreas (an organ in your abdomen). As a result, the digestive enzymes that your pancreas makes can't reach your small intestine.\n \nThese enzymes help break down food. Without them, your intestines can't fully absorb fats and proteins. This can cause vitamin deficiency and malnutrition because nutrients pass through your body without being used. You also may have bulky stools, intestinal gas, a swollen belly from severe constipation, and pain or discomfort.\n \nCF also causes your sweat to become very salty. Thus, when you sweat, you lose large amounts of salt. This can upset the balance of minerals in your blood and cause many health problems. Examples of these problems include dehydration (a lack of fluid in your body), increased heart rate, fatigue (tiredness), weakness, decreased blood pressure, heat stroke, and, rarely, death.\n \nIf you or your child has CF, you're also at higher risk for diabetes or two bone-thinning conditions called osteoporosis (OS-te-o-po-RO-sis) and osteopenia (OS-te-o-PEE-nee-uh).\n \nCF also causes infertility in men, and the disease can make it harder for women to get pregnant. (The term \"infertility\" refers to the inability to have children.)\n \nOutlook\n \nThe symptoms and severity of CF vary. If you or your child has the disease, you may have serious lung and digestive problems. If the disease is mild, symptoms may not show up until the teen or adult years.\n \nThe symptoms and severity of CF also vary over time. Sometimes you'll have few symptoms. Other times, your symptoms may become more severe. As the disease gets worse, you'll have more severe symptoms more often.\n \nLung function often starts to decline in early childhood in people who have CF. Over time, damage to the lungs can cause severe breathing problems. Respiratory failure is the most common cause of death in people who have CF.\n \nAs treatments for CF continue to improve, so does life expectancy for those who have the disease. Today, some people who have CF are living into their forties or fifties, or longer.\n \nEarly treatment for CF can improve your quality of life and increase your lifespan. Treatments may include nutritional and respiratory therapies, medicines, exercise, and other treatments.\n \nYour doctor also may recommend pulmonary rehabilitation (PR). PR is a broad program that helps improve the well-being of people who have chronic (ongoing) breathing problems.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Optic atrophy polyneuropathy deafness ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Optic atrophy polyneuropathy deafness? The Human Phenotype Ontology provides the following list of signs and symptoms for Optic atrophy polyneuropathy deafness. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Areflexia - Autosomal recessive inheritance - Broad-based gait - Distal muscle weakness - Distal sensory impairment - Distal upper limb amyotrophy - Gait ataxia - Joint contracture of the hand - Optic atrophy - Pectus excavatum - Peripheral demyelination - Positive Romberg sign - Progressive sensorineural hearing impairment - Short thumb - Thoracic scoliosis - Ulnar deviation of the hand - Variable expressivity - Visual impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) High Blood Cholesterol ?"}, {"role": "assistant", "content": "The coronary arteries bring blood to your heart. If plaque builds up in these arteries, the blood may not be able to bring enough oxygen to the heart muscle. This is called coronary heart disease.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for cholesteryl ester storage disease ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of cholesteryl ester storage disease: - Genetic Testing Registry: Lysosomal acid lipase deficiency - MedlinePlus Encyclopedia: Atherosclerosis - MedlinePlus Encyclopedia: Cirrhosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Jones syndrome ?"}, {"role": "assistant", "content": "How might Jones syndrome be treated? Due to the rarity of Jones syndrome, there are no treatment guidelines available in the medical literature. However, there is information about how the features associated with Jones syndrome might be treated. Treatment for gingival fibromatosis varies depending on the severity. Maintaining good oral hygiene is very important. Surgery to remove the enlarged gum tissue in the mouth (gingivectomy) may be needed for functional and/or cosmetic reasons. Enlargement may recur to various extents, and repeated surgeries may be needed to reshape the gums. It has been recommended that whenever possible, this treatment should be performed after the complete eruption of permanent teeth. The goal of treatment for sensorineural hearing loss is to improve hearing. People with sensorineural hearing loss may use hearing aids; telephone amplifiers and other assistive devices; sign language (for those with severe hearing loss); and/or speech reading (such as lip reading and using visual cues to aid communication). A cochlear implant may be recommended for some people with severe hearing loss.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Unverricht-Lundborg disease ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Unverricht-Lundborg disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Unverricht-Lundborg disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Absence seizures - Ataxia - Autosomal recessive inheritance - Dysarthria - Generalized tonic-clonic seizures - Mental deterioration - Myoclonus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Burn-Mckeown syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Burn-Mckeown syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Burn-Mckeown syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Blepharophimosis 90% Choanal atresia 90% Hypertelorism 90% Abnormality of the cardiac septa 50% Prominent nasal bridge 50% Abnormality of the palate 7.5% Short nose 7.5% Short stature 7.5% 2-3 toe syndactyly - Abnormality of metabolism/homeostasis - Atria septal defect - Autosomal recessive inheritance - Bifid uvula - Bilateral choanal atresia/stenosis - Cleft palate - Cleft upper lip - Conductive hearing impairment - Feeding difficulties in infancy - Hypomimic face - Lower eyelid coloboma - Mandibular prognathia - Narrow mouth - Preauricular skin tag - Protruding ear - Renal hypoplasia - Short palpebral fissure - Short philtrum - Thin vermilion border - Underdeveloped nasal alae - Ventricular septal defect - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of X-linked creatine deficiency ?"}, {"role": "assistant", "content": "What are the signs and symptoms of X-linked creatine deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked creatine deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis 90% Cognitive impairment 90% Neurological speech impairment 90% Abnormality of movement 50% Aganglionic megacolon 50% Autism 50% Constipation 50% Decreased body weight 50% Hypertonia 50% Hypoplasia of the zygomatic bone 50% Incoordination 50% Intestinal obstruction 50% Muscular hypotonia 50% Open mouth 50% Seizures 50% Short stature 50% Cutis laxa 7.5% Joint hypermobility 7.5% Mask-like facies 7.5% Microcephaly 7.5% Ptosis 7.5% Aggressive behavior - Attention deficit hyperactivity disorder - Broad forehead - Delayed myelination - Delayed speech and language development - Dystonia - Exotropia - Failure to thrive - Feeding difficulties in infancy - Gait disturbance - Hypermetropia - Hypoplasia of midface - Hypoplasia of the corpus callosum - Ileus - Impaired social interactions - Infantile onset - Intellectual disability - Long face - Malar flattening - Mandibular prognathia - Motor delay - Myopathic facies - Narrow face - Neonatal hypotonia - Pes cavus - Poor hand-eye coordination - Spasticity - Stereotypic behavior - Tall stature - Underfolded superior helices - Vomiting - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to WAGR syndrome ?"}, {"role": "assistant", "content": "WAGR syndrome is caused by a deletion of genetic material on the short (p) arm of chromosome 11. The size of the deletion varies among affected individuals. The signs and symptoms of WAGR syndrome are related to the loss of multiple genes on the short arm of chromosome 11. WAGR syndrome is often described as a contiguous gene deletion syndrome because it results from the loss of several neighboring genes. The PAX6 and WT1 genes are always deleted in people with the typical signs and symptoms of this disorder. Because changes in the PAX6 gene can affect eye development, researchers think that the loss of the PAX6 gene is responsible for the characteristic eye features of WAGR syndrome. The PAX6 gene may also affect brain development. Wilms tumor and genitourinary abnormalities are often the result of mutations in the WT1 gene, so deletion of the WT1 gene is very likely the cause of these features in WAGR syndrome. In people with WAGRO syndrome, the chromosome 11 deletion includes an additional gene, BDNF. This gene is active (expressed) in the brain and plays a role in the survival of nerve cells (neurons). The protein produced from the BDNF gene is thought to be involved in the management of eating, drinking, and body weight. Loss of the BDNF gene is likely responsible for childhood-onset obesity in people with WAGRO syndrome. People with WAGRO syndrome may be at greater risk of neurological problems such as intellectual disability and autism than those with WAGR syndrome. It is unclear whether this increased risk is due to the loss of the BDNF gene or other nearby genes. Research is ongoing to identify additional genes deleted in people with WAGR syndrome and to determine how their loss leads to the other features of the disorder.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) cerebrotendinous xanthomatosis ?"}, {"role": "assistant", "content": "Cerebrotendinous xanthomatosis is a fat (lipid) storage disorder that affects many areas of the body. People with this disorder cannot break down certain lipids effectively, specifically different forms of cholesterol, so these fats accumulate in various areas of the body. Xanthomatosis refers to the formation of fatty yellow nodules (xanthomas). Cerebrotendinous refers to the typical locations of the xanthomas (cerebro- meaning the brain and -tendinous meaning connective tissue called tendons that attach muscle to bone). Other features of cerebrotendinous xanthomatosis include chronic diarrhea during infancy, clouding of the lens of the eye (cataracts) developing in late childhood, progressively brittle bones that are prone to fracture, and neurological problems in adulthood, such as dementia, seizures, hallucinations, depression, and difficulty with coordinating movements (ataxia) and speech (dysarthria). The neurological symptoms are thought to be caused by an accumulation of fats and an increasing number of xanthomas in the brain. Xanthomas can also accumulate in the fatty substance that insulates and protects nerves (myelin), disrupting nerve signaling in the brain. Disorders that involve the destruction of myelin are known as leukodystrophies. Degeneration (atrophy) of brain tissue caused by excess lipid deposits also contributes to the neurological problems. Xanthomas in the tendons (most commonly in the Achilles tendon, which connects the heel of the foot to the calf muscles) begin to form in early adulthood. Tendon xanthomas may cause discomfort and interfere with tendon flexibility. People with cerebrotendinous xanthomatosis are also at an increased risk of developing cardiovascular disease. If untreated, the signs and symptoms related to the accumulation of lipids throughout the body worsen over time; however, the course of this condition varies greatly among those who are affected.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by metachromatic leukodystrophy ?"}, {"role": "assistant", "content": "Metachromatic leukodystrophy is reported to occur in 1 in 40,000 to 160,000 individuals worldwide. The condition is more common in certain genetically isolated populations: 1 in 75 in a small group of Jews who immigrated to Israel from southern Arabia (Habbanites), 1 in 2,500 in the western portion of the Navajo Nation, and 1 in 8,000 among Arab groups in Israel.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by laryngo-onycho-cutaneous syndrome ?"}, {"role": "assistant", "content": "LOC syndrome is a rare disorder that primarily affects families of Punjabi background from India and Pakistan, although the condition has also been reported in one family from Iran.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Marshall-Smith syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Marshall-Smith syndrome? Marshall-Smith syndrome is characterized by accelerated skeletal maturation, relative failure to thrive, respiratory difficulties, mental retardation, and unusual facies, including wide and prominent forehead, protruding and widely spaced eyes, blue sclerae (the white part of the eye), depressed nasal bridge, a small, upturned nose, and micrognathia. There are often problems with structures in the respiratory tract (such as the larynx and trachea) and this can lead to difficulty with breathing and frequent infections. Pneumonia is common. Severe feeding difficulties may also result. X-rays show advanced bone age and short and conical phalanges (finger and/or toes bones). The Human Phenotype Ontology provides the following list of signs and symptoms for Marshall-Smith syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Accelerated skeletal maturation 90% Anteverted nares 90% Bowing of the long bones 90% Cognitive impairment 90% Depressed nasal bridge 90% Frontal bossing 90% Hyperextensible skin 90% Joint hypermobility 90% Proptosis 90% Respiratory insufficiency 90% Skeletal dysplasia 90% Slender long bone 90% Thin skin 90% Abnormality of the tongue 50% Blue sclerae 50% Bruising susceptibility 50% Conductive hearing impairment 50% Hypertelorism 50% Hypertrichosis 50% Laryngomalacia 50% Open mouth 50% Recurrent fractures 50% Reduced bone mineral density 50% Scoliosis 50% Short nose 50% Aplasia/Hypoplasia of the cerebellum 7.5% Choanal atresia 7.5% Craniosynostosis 7.5% Gingival overgrowth 7.5% Optic atrophy 7.5% Ventriculomegaly 7.5% Agenesis of corpus callosum - Atlantoaxial dislocation - Atria septal defect - Autosomal dominant inheritance - Bullet-shaped middle phalanges of the hand - Cerebral atrophy - Choanal stenosis - Death in childhood - Decreased body weight - Distal widening of metacarpals - Failure to thrive - Glossoptosis - Hearing impairment - Hypoplasia of midface - Hypoplasia of the odontoid process - Intellectual disability - Irregular dentition - Large sternal ossification centers - Low-set ears - Macrogyria - Malar flattening - Motor delay - Muscular hypotonia - Obstructive sleep apnea - Omphalocele - Overfolded helix - Patent ductus arteriosus - Pectus excavatum - Prominence of the premaxilla - Prominent forehead - Pulmonary hypertension - Recurrent aspiration pneumonia - Retrognathia - Shallow orbits - Short distal phalanx of finger - Short mandibular rami - Short philtrum - Short sternum - Sporadic - Synophrys - Tall stature - Thick eyebrow - Umbilical hernia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to isolated lissencephaly sequence ?"}, {"role": "assistant", "content": "Mutations in the PAFAH1B1, DCX, or TUBA1A gene can cause ILS. PAFAH1B1 gene mutations are responsible for over half of ILS cases; DCX gene mutations cause about 10 percent of cases; and TUBA1A gene mutations cause a small percentage of ILS. These genes provide instructions for making proteins that are involved in the movement (migration) of nerve cells (neurons) to their proper locations in the developing brain. Neuronal migration is dependent on cell structures called microtubules. Microtubules are rigid, hollow fibers that make up the cell's structural framework (the cytoskeleton). Microtubules form scaffolding within the cell that elongates in a specific direction, altering the cytoskeleton and moving the neuron. The protein produced from the TUBA1A gene is a component of microtubules. The proteins produced from the DCX and PAFAH1B1 genes promote neuronal migration by interacting with microtubules. Mutations in any of these three genes impair the function of microtubules and the normal migration of neurons during fetal development. As a result, the layers of the cerebral cortex are disorganized and the normal folds and grooves of the brain do not form. This impairment of brain development leads to the smooth brain appearance and the resulting neurological problems characteristic of ILS. Some individuals with ILS do not have an identified mutation in any of these three genes; the cause of the condition in these individuals may be unidentified mutations in other genes that affect neuronal migration or other unknown factors.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Alopecia, epilepsy, pyorrhea, mental subnormality ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Alopecia, epilepsy, pyorrhea, mental subnormality? The Human Phenotype Ontology provides the following list of signs and symptoms for Alopecia, epilepsy, pyorrhea, mental subnormality. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the eyelashes 90% Abnormality of the teeth 90% Alopecia 90% Aplasia/Hypoplasia of the eyebrow 90% EEG abnormality 90% Gingivitis 90% Memory impairment 90% Seizures 50% Hearing impairment 7.5% Hydrocephalus 7.5% Melanocytic nevus 7.5% Alopecia universalis - Autosomal dominant inheritance - Congenital alopecia totalis - Intellectual disability, mild - Periodontitis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Nutrition for Advanced Chronic Kidney Disease in Adults ?"}, {"role": "assistant", "content": "The NIDDK Nutrition for Chronic Kidney Disease Series includes three fact sheets:\n \n- Nutrition for Early Chronic Kidney Disease in Adults - Nutrition for Advanced Chronic Kidney Disease in Adults - Nutrition for Chronic Kidney Disease in Children", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to Lafora progressive myoclonus epilepsy ?"}, {"role": "assistant", "content": "Lafora progressive myoclonus epilepsy can be caused by mutations in either the EPM2A gene or the NHLRC1 gene. These genes provide instructions for making proteins called laforin and malin, respectively. Laforin and malin play a critical role in the survival of nerve cells (neurons) in the brain. Studies suggest that laforin and malin work together and may have several functions. One of these is to help regulate the production of a complex sugar called glycogen, which is a major source of stored energy in the body. The body stores this sugar in the liver and muscles, breaking it down when it is needed for fuel. Laforin and malin may prevent a potentially damaging buildup of glycogen in tissues that do not normally store this molecule, such as those of the nervous system. Researchers have discovered that people with Lafora progressive myoclonus epilepsy have distinctive clumps called Lafora bodies within their cells. Lafora bodies are made up of an abnormal form of glycogen that cannot be broken down and used for fuel. Instead, it builds up to form clumps that can damage cells. Neurons appear to be particularly vulnerable to this type of damage. Although Lafora bodies are found in many of the body's tissues, the signs and symptoms of Lafora progressive myoclonus epilepsy are limited to the nervous system. Mutations in the EPM2A gene prevent cells from making functional laforin, while NHLRC1 gene mutations prevent the production of functional malin. It is unclear how a loss of either of these proteins leads to the formation of Lafora bodies. However, a loss of laforin or malin ultimately results in the death of neurons, which interferes with the brain's normal functions. The condition tends to progress more slowly in some people with NHLRC1 gene mutations than in those with EPM2A gene mutations. Mutations in the EPM2A and NHLRC1 genes account for 80 percent to 90 percent of all cases of Lafora progressive myoclonus epilepsy. In the remaining cases, the cause of the condition is unknown. Researchers are searching for other genetic changes that may underlie this disease.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is PMM2-congenital disorder of glycosylation inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Intraocular (Uveal) Melanoma ?"}, {"role": "assistant", "content": "Key Points\n - Intraocular melanoma is a disease in which malignant (cancer) cells form in the tissues of the eye. - Being older and having fair skin may increase the risk of intraocular melanoma. - Signs of intraocular melanoma include blurred vision or a dark spot on the iris. - Tests that examine the eye are used to help detect (find) and diagnose intraocular melanoma. - A biopsy of the tumor is rarely needed to diagnose intraocular melanoma. - Certain factors affect prognosis (chance of recovery) and treatment options.\n \n \n Intraocular melanoma is a disease in which malignant (cancer) cells form in the tissues of the eye.\n Intraocular melanoma begins in the middle of three layers of the wall of the eye. The outer layer includes the white sclera (the \"white of the eye\") and the clear cornea at the front of the eye. The inner layer has a lining of nerve tissue, called the retina, which senses light and sends images along the optic nerve to the brain. The middle layer, where intraocular melanoma forms, is called the uvea or uveal tract, and has three main parts: - Iris The iris is the colored area at the front of the eye (the \"eye color\"). It can be seen through the clear cornea. The pupil is in the center of the iris and it changes size to let more or less light into the eye. Intraocular melanoma of the iris is usually a small tumor that grows slowly and rarely spreads to other parts of the body. - Ciliary body The ciliary body is a ring of tissue with muscle fibers that change the size of the pupil and the shape of the lens. It is found behind the iris. Changes in the shape of the lens help the eye focus. The ciliary body also makes the clear fluid that fills the space between the cornea and the iris. Intraocular melanoma of the ciliary body is often larger and more likely to spread to other parts of the body than intraocular melanoma of the iris. - Choroid The choroid is a layer of blood vessels that bring oxygen and nutrients to the eye. Most intraocular melanomas begin in the choroid. Intraocular melanoma of the choroid is often larger and more likely to spread to other parts of the body than intraocular melanoma of the iris. Intraocular melanoma is a rare cancer that forms from cells that make melanin in the iris, ciliary body, and choroid. It is the most common eye cancer in adults.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is triosephosphate isomerase deficiency inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Gorham's disease ?"}, {"role": "assistant", "content": "How might Gorham disease be treated? No specific therapy exists for people with Gorham's disease. Certain treatments may be effective in some, but not others. Several different methods are often used before finding one that is effective. In some cases, treatment may not be necessary. Most people require intense treatment, especially if the disease has spread to other areas of the body or if there is extensive involvement in the spine and skull. Treatment options include radiation therapy, steroids, and/or surgery that may involve bone grafting. Other treatments might include biphosphonates (such as pamidronate or zoledronic acid) and alpha-2b interferon. These treatments have led to improvement of symptoms in some cases. More research is necessary to determine the long-term safety and effectiveness of these therapies in people with Gorham's disease. All treatments (pharmacological and surgical) are all still considered to be experimental since there have been no studies done to examine the effectiveness of anything used to date. In general, no single treatment has been proven effective in stopping the progression of the disease.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Trisomy 18 ?"}, {"role": "assistant", "content": "What causes Trisomy 18? In most cases, trisomy 18 is caused by having 3 copies of chromosome 18 in each cell in the body, instead of the usual 2 copies. The extra genetic material from the 3rd copy of the chromosome disrupts development, causing the characteristic signs and symptoms of the condition. About 5% of people with trisomy 18 have 'mosaic trisomy 18' (when there is an extra copy of the chromosome in only some of the body's cells). The severity of mosaic trisomy 18 depends on the number and locations of cells with the extra copy. Very rarely, an extra piece of chromosome 18 is attached to another chromosome; this is called translocation trisomy 18, or partial trisomy 18. If only part of the long (q) arm of chromosome 18 is present in 3 copies, the features may be less severe than in people with full trisomy 18.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Kaposi sarcoma ?"}, {"role": "assistant", "content": "Kaposi sarcoma (KS) is a cancer that develops from the cells that line lymph or blood vessels. It usually appears as tumors on the skin or on mucosal surfaces such as inside the mouth, but tumors can also develop in other parts of the body (including the lymph nodes, lungs, or digestive tract). The abnormal cells of Kaposi sarcoma cause purplish, reddish blue, or dark brown/black skin lesions (macules, nodules, plaques) on the legs and the face. These lesions may look bad, but they usually cause no symptoms. However, when the lesions are in the lungs, liver, or digestive tract, they may cause serious problems like gastrointestinal bleeding or trouble breathing. Kaposi sarcoma is caused by infection with a virus called the Kaposi sarcoma associated herpesvirus (KSHV), also known as human herpesvirus 8 (HHV8). Kaposi sarcoma is classified into four types based upon the different populations in which it develops: classic (which presents in middle or old age), endemic (described in sub-Saharan indigenous Africans), iatrogenic (associated with immunosuppressive drug therapy) and AIDS-associated (epidemic KS). Options for treatment may include local therapy, radiation therapy, chemotherapy and biologic therapy (immunotherapy). The main aim is to restore immunity.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to Char syndrome ?"}, {"role": "assistant", "content": "Mutations in the TFAP2B gene cause Char syndrome. This gene provides instructions for making a protein known as transcription factor AP-2. A transcription factor is a protein that attaches (binds) to specific regions of DNA and helps control the activity of particular genes. Transcription factor AP-2 regulates genes that are involved in development before birth. In particular, this protein appears to play a role in the normal formation of structures in the face, heart, and limbs. TFAP2B mutations alter the structure of transcription factor AP-2. Some of these mutations prevent the protein from binding to DNA, while other mutations render it unable to regulate the activity of other genes. A loss of this protein's function disrupts the normal development of several parts of the body before birth, resulting in the major features of Char syndrome.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is 2-hydroxyglutaric aciduria inherited ?"}, {"role": "assistant", "content": "D-2-HGA type I, L-2-HGA, and combined D,L-2-HGA all have an autosomal recessive pattern of inheritance, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. D-2-HGA type II is considered an autosomal dominant disorder because one copy of the altered gene in each cell is sufficient to cause the condition. The disorder typically results from a new mutation in the IDH2 gene and occurs in people with no history of the condition in their family.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Sjgren-Larsson syndrome ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of Sjgren-Larsson syndrome: - Genetic Testing Registry: Sjgren-Larsson syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Stroke ?"}, {"role": "assistant", "content": "With stroke, treatment depends on the stage of the disease. There are three treatment stages for stroke: prevention, therapy immediately after stroke, and rehabilitation after stroke. Stroke treatments include medications, surgery, and rehabilitation.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Hypersomnia ?"}, {"role": "assistant", "content": "Treatment is symptomatic in nature. Stimulants, such as amphetamine, methylphenidate, and modafinil, may be prescribed. Other drugs used to treat hypersomnia include clonidine, levodopa, bromocriptine, antidepressants, and monoamine oxidase inhibitors. Changes in behavior (for example avoiding night work and social activities that delay bed time) and diet may offer some relief. Patients should avoid alcohol and caffeine.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Osteoporosis ?"}, {"role": "assistant", "content": "Diagnosing osteoporosis involves several steps, starting with a physical exam and a careful medical history, blood and urine tests, and possibly a bone mineral density assessment. When recording information about your medical history, your doctor will ask questions to find out whether you have risk factors for osteoporosis and fractures. The doctor may ask about - any fractures you have had - your lifestyle (including diet, exercise habits, and whether you smoke) - current or past health problems - medications that could contribute to low bone mass and increased fracture risk - your family history of osteoporosis and other diseases - for women, your menstrual history. any fractures you have had your lifestyle (including diet, exercise habits, and whether you smoke) current or past health problems medications that could contribute to low bone mass and increased fracture risk your family history of osteoporosis and other diseases for women, your menstrual history.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Spastic paraplegia 11 ?"}, {"role": "assistant", "content": "Spastic paraplegia 11 is a form of hereditary spastic paraplegia. People with spastic paraplegia 11 experience progressive muscle stiffness and eventual paralysis of the lower limbs, as well as a range of other neurologic symptoms. The tissue connecting the left and right halves of the brain (corpus callosum) is abnormally thin in individuals with this condition. Spastic paraplegia 11 is caused by mutations in the SPG11 gene and is passed through families in an autosomal recessive fashion.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Patulous Eustachian Tube ?"}, {"role": "assistant", "content": "Patulous eustachian tube is a benign condition in which the eustachian tube stays open most of the time. The eustachian tube is the tube that runs between the middle ear and throat and regulates the ear pressure around the ear drum. Under normal circumstances, it remains closed most of the time, opening only on occasion to equalize air pressure between the middle ear and the exterior environment. Major symptoms include distorted autophony (hearing one's own voice or breathing), echoing which may interfere with speech production, wave-like sounds, and a sensation of fullness in the ear. In severe cases, vertigo and hearing loss may occur. Over time, individuals with patulous eustachian tube may develop serious and even extreme responses to the abnormal sounds and other findings. In most cases, the cause of patulous eustachian tube is unknown. Weight loss and pregnancy may be predisposing factors. Neurologic disorders that cause muscle atrophy such as stroke, multiple sclerosis, and motor neuron disease have been implicated in some cases of patulous eustachian tube. Other cases may be associated with medications such as oral contraceptives or diuretics. Other predisposing factors include fatigue, stress, anxiety, exercise, and temporomandibular joint syndrome.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Problems with Smell ?"}, {"role": "assistant", "content": "Depending on the cause of your smell disorder, your doctor may be able to treat your problem or suggest ways to cope with it. If a certain medication is the cause of the disorder, ask your doctor if you could substitute other medications or reduce the dose. Your doctor will work with you to get the medicine you need while trying to reduce unwanted side effects. Some patients with respiratory infections or allergies regain their sense of smell when the illness or condition is over. Often, correcting a general medical problem also can restore the sense of smell. For patients with nasal obstructions, such as polyps, or other inflammatory conditions of the nose or sinuses, medical treatments or surgery can restore the sense of smell. Occasionally, the sense of smell returns to normal on its own, without any treatment. Your doctor may suggest oral steroid medications such as prednisone, which is usually used for a short period of time, or topical steroid sprays, which can be used for longer periods of time. Antibiotics are also used to treat nasal infections. The effectiveness of both steroids and antibiotics depends greatly on the severity and duration of the nasal swelling or infection. Often relief is temporary.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Transitional Cell Cancer of the Renal Pelvis and Ureter ?"}, {"role": "assistant", "content": "Key Points\n - Transitional cell cancer of the renal pelvis and ureter is a disease in which malignant (cancer) cells form in the renal pelvis and ureter. - Misuse of certain pain medicines can affect the risk of transitional cell cancer of the renal pelvis and ureter. - Signs and symptoms of transitional cell cancer of the renal pelvis and ureter include blood in the urine and back pain. - Tests that examine the abdomen and kidneys are used to detect (find) and diagnose transitional cell cancer of the renal pelvis and ureter. - Certain factors affect prognosis (chance of recovery) and treatment options.\n \n \n Transitional cell cancer of the renal pelvis and ureter is a disease in which malignant (cancer) cells form in the renal pelvis and ureter.\n The renal pelvis is the top part of the ureter. The ureter is a long tube that connects the kidney to the bladder. There are two kidneys, one on each side of the backbone, above the waist. The kidneys of an adult are about 5 inches long and 3 inches wide and are shaped like a kidney bean. Tiny tubules in the kidneys filter and clean the blood. They take out waste products and make urine. The urine collects in the middle of each kidney in the renal pelvis. Urine passes from the renal pelvis through the ureter into the bladder. The bladder holds the urine until it passes through the urethra and leaves the body. The renal pelvis and ureters are lined with transitional cells. These cells can change shape and stretch without breaking apart. Transitional cell cancer starts in these cells. Transitional cell cancer can form in the renal pelvis or the ureter or both. Renal cell cancer is a more common type of kidney cancer. See the PDQ summary about Renal Cell Cancer Treatment for more information.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Single upper central incisor ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Single upper central incisor? The Human Phenotype Ontology provides the following list of signs and symptoms for Single upper central incisor. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Choanal atresia 90% Midnasal stenosis 90% Short stature 90% Cognitive impairment 50% Hypotelorism 50% Intrauterine growth retardation 50% Microcephaly 50% Narrow nasal bridge 50% Premature birth 50% Short philtrum 50% Tented upper lip vermilion 50% Holoprosencephaly 33% Abnormality of the skin 7.5% Anosmia 7.5% Anterior hypopituitarism 7.5% Anteverted nares 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Asthma 7.5% Cleft palate 7.5% Coloboma 7.5% Cyclopia 7.5% Duodenal stenosis 7.5% Hypoplasia of penis 7.5% Hypothyroidism 7.5% Iris coloboma 7.5% Maternal diabetes 7.5% Renal hypoplasia/aplasia 7.5% Scoliosis 7.5% Seizures 7.5% Short nose 7.5% Strabismus 7.5% Tetralogy of Fallot 7.5% Vertebral segmentation defect 7.5% Anophthalmia 5% Microphthalmia 5% Prominent median palatal raphe 14/14 Growth hormone deficiency 5/7 Midnasal stenosis 9/14 Choanal atresia 8/14 Hypotelorism 8/14 Short stature 7/14 Microcephaly 6/14 Specific learning disability 5/14 Intellectual disability, mild 3/14 Abnormality of chromosome segregation 2/14 Abnormality of the nasopharynx 1/14 Cleft upper lip 1/14 Autosomal dominant inheritance - Torus palatinus - Variable expressivity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Diagnosis of Diabetes and Prediabetes ?"}, {"role": "assistant", "content": "People can manage their diabetes with meal planning, physical activity, and if needed, medications. More information about taking care of type 1 or type 2 diabetes is provided in the NIDDK health topics:\n \n- What I need to know about Diabetes Medicines - What I need to know about Eating and Diabetes - Your Guide to Diabetes: Type 1 and Type 2\n \nThese NDIC publications are available at http://www.niddk.nih.gov/health-information/health-topics/Diabetes/Pages/default.aspx or by calling 18008608747.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Bartter syndrome ?"}, {"role": "assistant", "content": "How is Bartter syndrome diagnosed? Bartter syndrome is usually diagnosed after a combination of tests are performed on an individual with the signs and symptoms of the condition. Blood test results in an affected individual typically show low blood potassium levels (with normal blood pressure); low blood chloride levels; and an acid/base balance that is skewed towards the base (i.e. the blood is more alkaline than usual). High levels of the hormones renin and aldosterone in the blood would also support the diagnosis. Urine test results that would support the diagnosis include high levels of potassium and chloride, suggesting that the kidneys have impaired ability to control the concentrations of these electrolytes. A positive genetic test result would confirm the diagnosis. Is genetic testing available for Bartter syndrome? Yes, genetic testing for Bartter syndrome is available. GeneTests lists the names of laboratories that are performing clinical genetic testing for Bartter syndrome. To view a list of the clinical laboratories performing testing for each type of Bartter syndrome, click on the appropriate link below: Antenatal Bartter syndrome type I Antenatal Bartter syndrome type II Bartter syndrome type III (Classical Bartter syndrome) Bartter syndrome type IVA (Infantile Bartter Syndrome with Sensorineural Deafness) Bartter syndrome type IVB Please note that most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, individuals interested in learning more will need to work with a health care provider or a genetics professional.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Florid papillomatosis of the nipple ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Florid papillomatosis of the nipple? The Human Phenotype Ontology provides the following list of signs and symptoms for Florid papillomatosis of the nipple. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the skin - Autosomal dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Precocious puberty ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Precocious puberty? The Human Phenotype Ontology provides the following list of signs and symptoms for Precocious puberty. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Hypothyroidism 7.5% Autosomal dominant inheritance - Elevated follicle stimulating hormone - Elevated luteinizing hormone - Isosexual precocious puberty - Short stature - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Charcot-Marie-Tooth disease type 2G ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Charcot-Marie-Tooth disease type 2G? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 2G. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Onion bulb formation 7.5% Areflexia - Autosomal recessive inheritance - Axonal degeneration/regeneration - Decreased motor nerve conduction velocity - Decreased number of peripheral myelinated nerve fibers - Distal amyotrophy - Distal muscle weakness - Distal sensory impairment - Flexion contracture - Neonatal onset - Pes cavus - Spinal deformities - Split hand - Vocal cord paresis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Familial hypertrophic cardiomyopathy ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Familial hypertrophic cardiomyopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial hypertrophic cardiomyopathy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis - Arrhythmia - Asymmetric septal hypertrophy - Autosomal dominant inheritance - Congestive heart failure - Subaortic stenosis - Sudden death - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Prostate Cancer ?"}, {"role": "assistant", "content": "Surgery, radiation therapy, and hormonal therapy all have the potential to disrupt sexual desire or performance for a short while or permanently. Discuss your concerns with your health care provider. Several options are available to help you manage sexual problems related to prostate cancer treatment.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Severe intellectual disability-progressive spastic diplegia syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Severe intellectual disability-progressive spastic diplegia syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Severe intellectual disability-progressive spastic diplegia syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Hypoplasia of the corpus callosum - Intellectual disability - Microcephaly - Muscular hypotonia - Spastic diplegia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by Niemann-Pick disease ?"}, {"role": "assistant", "content": "Niemann-Pick disease types A and B is estimated to affect 1 in 250,000 individuals. Niemann-Pick disease type A occurs more frequently among individuals of Ashkenazi (eastern and central European) Jewish descent than in the general population. The incidence within the Ashkenazi population is approximately 1 in 40,000 individuals. Combined, Niemann-Pick disease types C1 and C2 are estimated to affect 1 in 150,000 individuals; however, type C1 is by far the more common type, accounting for 95 percent of cases. The disease occurs more frequently in people of French-Acadian descent in Nova Scotia. In Nova Scotia, a population of affected French-Acadians were previously designated as having Niemann-Pick disease type D, however, it was shown that these individuals have mutations in the gene associated with Niemann-Pick disease type C1.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to bladder cancer ?"}, {"role": "assistant", "content": "As with most cancers, the exact causes of bladder cancer are not known; however, many risk factors are associated with this disease. Many of the major risk factors are environmental, such as smoking and exposure to certain industrial chemicals. Studies suggest that chronic bladder inflammation, a parasitic infection called schistosomiasis, and some medications used to treat cancer are other environmental risk factors associated with bladder cancer. Genetic factors are also likely to play an important role in determining bladder cancer risk. Researchers have studied the effects of mutations in several genes, including FGFR3, RB1, HRAS, TP53, and TSC1, on the formation and growth of bladder tumors. Each of these genes plays a critical role in regulating cell division by preventing cells from dividing too rapidly or in an uncontrolled way. Alterations in these genes may help explain why some bladder cancers grow and spread more rapidly than others. Deletions of part or all of chromosome 9 are common events in bladder tumors. Researchers believe that several genes that control cell growth and division are probably located on chromosome 9. They are working to determine whether a loss of these genes plays a role in the development and progression of bladder cancer. Most of the genetic changes associated with bladder cancer develop in bladder tissue during a person's lifetime, rather than being inherited from a parent. Some people, however, appear to inherit a reduced ability to break down certain chemicals, which makes them more sensitive to the cancer-causing effects of tobacco smoke and industrial chemicals.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Do you have information about Occupational Health"}, {"role": "assistant", "content": "Summary : Occupational health problems occur at work or because of the kind of work you do. These problems can include - Cuts, broken bones, sprains, and strains - Loss of limbs - Repetitive motion disorders - Hearing problems caused by exposure to noise - Vision problems - Illness caused by breathing, touching, or swallowing unsafe substances - Illness caused by exposure to radiation - Exposure to germs in health care settings Good job safety and prevention practices can reduce your risk of these problems. Try to stay fit, reduce stress, set up your work area properly, and use the right equipment and gear.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Skin Infections ?"}, {"role": "assistant", "content": "Your skin helps protect you from germs, but sometimes it can get infected by them. Some common types of skin infections are - Bacterial: Cellulitis and impetigo. Staphylococcal infections can also affect the skin. - Viral: Shingles, warts, and herpes simplex - Fungal: Athlete's foot and yeast infections - Parasitic: Body lice, head lice, and scabies Treatment of skin infections depends on the cause.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is MECP2 duplication syndrome inherited ?"}, {"role": "assistant", "content": "Is MECP2 duplication syndrome inherited? MECP2 duplication syndrome is inherited in an X-linked manner. A condition is considered X-linked if the genetic change that causes the condition is located on the X chromosome, one of the two sex chromosomes (the Y chromosome is the other sex chromosome). In males (who have only one X chromosome), a duplication of the MECP2 gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a duplication of one of the two copies of the gene typically does not cause the disorder. Early in the development of females, one of the two X chromosomes is randomly and permanently inactivated in each cell (called X-inactivation). X-inactivation prevents female cells from having twice as many functional X chromosomes as males. Because X-inactivation is usually random, the X chromosome inherited from the mother is active in some cells, and the X chromosome inherited from the father is active in other cells. However, when a female has an X chromosome with a duplicated copy of the MECP2 gene, the abnormal chromosome is often preferentially inactivated in many or all cells. This is called \"skewed X-inactivation.\" It prevents some women with an MECP2 duplication from developing features of the duplication since the extra genetic material is not active. In most cases, MECP2 duplication syndrome is inherited from a mother who has no signs or symptoms of the duplication. Rarely, the condition is not inherited and occurs due to a random event during the formation of the egg or sperm, or in early fetal development. When this happens, it is called a de novo duplication (occurring as a new genetic change for the first time in the affected person).", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Syndromic microphthalmia, type 3 ?"}, {"role": "assistant", "content": "Syndromic microphthalmia, type 3 is a rare condition that affects the eyes and other parts of the body. Babies with this condition are generally born without eyeballs (anophthalmia) or with eyes that are unusually small (microphthalmia). Both of these abnormalities can be associated with severe vision loss. Other signs and symptoms of syndromic microphthalmia, type 3 may include seizures, brain malformations, esophageal atresia, delayed motor development, learning disabilities, and sensorineural hearing loss. The condition is caused by changes (mutations) in the SOX2 gene and is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) FOXG1 syndrome ?"}, {"role": "assistant", "content": "FOXG1 syndrome is a condition characterized by impaired development and structural brain abnormalities. Affected infants are small at birth, and their heads grow more slowly than normal, leading to an unusually small head size (microcephaly) by early childhood. The condition is associated with a particular pattern of brain malformations that includes a thin or underdeveloped connection between the right and left halves of the brain (a structure called the corpus callosum), reduced folds and grooves (gyri) on the surface of the brain, and a smaller than usual amount of brain tissue known as white matter. FOXG1 syndrome affects most aspects of development, and children with the condition typically have severe intellectual disability. Abnormal or involuntary movements, such as jerking movements of the arms and legs and repeated hand motions, are common, and most affected children do not learn to sit or walk without assistance. Babies and young children with FOXG1 syndrome often have feeding problems, sleep disturbances, seizures, irritability, and excessive crying. The condition is also characterized by limited communication and social interaction, including poor eye contact and a near absence of speech and language skills. Because of these social impairments, FOXG1 syndrome is classified as an autism spectrum disorder. FOXG1 syndrome was previously described as a congenital variant of Rett syndrome, which is a similar disorder of brain development. Both disorders are characterized by impaired development, intellectual disability, and problems with communication and language. However, Rett syndrome is diagnosed almost exclusively in females, while FOXG1 syndrome affects both males and females. Rett syndrome also involves a period of apparently normal early development that does not occur in FOXG1 syndrome. Because of these differences, physicians and researchers now usually consider FOXG1 syndrome to be distinct from Rett syndrome.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is congenital sucrase-isomaltase deficiency inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Myelofibrosis ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Myelofibrosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Myelofibrosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Myelofibrosis - Myeloproliferative disorder - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "what research (or clinical trials) is being done for Striatonigral Degeneration ?"}, {"role": "assistant", "content": "The NINDS supports and conducts research on disorders of the brain and nervous system such as striatonigral degeneration. This research focuses on finding ways to prevent and treat these disorders.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "what research (or clinical trials) is being done for Adult Hodgkin Lymphoma ?"}, {"role": "assistant", "content": "New types of treatment are being tested in clinical trials.\n This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. Chemotherapy and radiation therapy with stem cell transplant High-dose chemotherapy and radiation therapy with stem cell transplant is a way of giving high doses of chemotherapy and radiation therapy and replacing blood -forming cells destroyed by the cancer treatment. Stem cells (immature blood cells) are removed from the blood or bone marrow of the patient or a donor and are frozen and stored. After therapy is completed, the stored stem cells are thawed and given back to the patient through an infusion. These reinfused stem cells grow into (and restore) the body's blood cells. The use of lower-dose chemotherapy and radiation therapy with stem cell transplant is also being studied. Monoclonal antibody therapy Monoclonal antibody therapy is a cancer treatment that uses antibodies made in the laboratory, from a single type of immune system cell. These antibodies can identify substances on cancer cells or normal substances that may help cancer cells grow. The antibodies attach to the substances and kill the cancer cells, block their growth, or keep them from spreading. Monoclonal antibodies are given by infusion. They may be used alone or to carry drugs, toxins, or radioactive material directly to cancer cells.\n \n \n Patients may want to think about taking part in a clinical trial.\n For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward.\n \n \n Patients can enter clinical trials before, during, or after starting their cancer treatment.\n Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Restless legs syndrome ?"}, {"role": "assistant", "content": "Restless legs syndrome is a neurological condition that causes an irresistible urge to move the legs. The movement is triggered by strange or uncomfortable feelings, which occur mostly while the affected person is sitting or lying down and are worse at night. Movement (i.e. kicking, stretching, rubbing, or pacing) makes the discomfort go away, at least temporarily. Many people with restless legs syndrome also experience uncontrollable, repetitive leg movements that occur while they are sleeping or while relaxed or drowsy. Researchers have described early-onset and late-onset forms of restless legs syndrome. The early-onset form begins before age 45 and progresses slowly. The late-onset form begins after age 45, and its signs and symptoms tend to worsen more rapidly. Restless legs syndrome likely results from a combination of genetic, environmental, and lifestyle factors, many of which are unknown. Treatment is based on the signs and symptoms present in each person.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Do you have information about Dental Health"}, {"role": "assistant", "content": "Summary : It's important to take care of your mouth and teeth starting in childhood. If you don't, you could have problems with your teeth and gums - like cavities or even tooth loss. Here's how to keep your mouth and teeth healthy: - Brush your teeth every day with a fluoride toothpaste - Clean between your teeth every day with floss or another type of between-the-teeth cleaner - Snack smart - limit sugary snacks - Don't smoke or chew tobacco - See your dentist or oral health professional regularly NIH: National Institute of Dental and Craniofacial Research", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Ehlers-Danlos Syndrome ?"}, {"role": "assistant", "content": "Ehlers-Danlos syndrome (EDS) is a group of inherited disorders that weaken connective tissues. Connective tissues are proteins that support skin, bones, blood vessels, and other organs. EDS usually affects your skin, joints and blood vessel walls. Symptoms include - Loose joints - Fragile, small blood vessels - Abnormal scar formation and wound healing - Soft, velvety, stretchy skin that bruises easily There are several types of EDS. They can range from mild to life-threatening. About 1 in 5,000 people has EDS. There is no cure. Treatment involves managing symptoms, often with medicines and physical therapy. It also includes learning how to protect your joints and prevent injuries.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Microcephalic osteodysplastic primordial dwarfism type 1 ?"}, {"role": "assistant", "content": "How might microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1) be treated? At this time there are no specific treatments for MOPD1. Treatment is generally supportive. The prognosis is poor for affected individuals, with most of the reported patients dying within the first year of life.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Congenital pulmonary lymphangiectasia ?"}, {"role": "assistant", "content": "Congenital pulmonary lymphangiectasia is a rare developmental disorder present from birth that affects the lungs. Infants with this condition have abnormally widened lymphatic vessels within the lungs. The lymphatic system, which helps the immune system protect the body against infection and disease, consists of a network of tubular channels that drain a thin watery fluid known as lymph from different areas of the body into the bloodstream. Lymph, which is made up of proteins, fats and certain white blood cells called lymphocytes, accumulates in the tiny spaces between tissue cells. Infants with congenital pulmonary lymphangiectasia often develop severe, potentially life-threatening, respiratory distress shortly after birth. They may also develop cyanosis, a condition caused by low levels of circulating oxygen in the blood which causes the skin to have a bluish tint. The exact cause of the condition is unknown. Congenital pulmonary lymphangiectasia can occur as a primary or secondary disorder. Primary congenital pulmonary lymphangiectasia can occur as an isolated defect within the lungs or as part of a a generalized form of lymphatic vessel malformation that affects the entire body. Secondary congenital pulmonary lymphangiectasia occurs secondary to another condition, often involving the heart.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) bladder cancer ?"}, {"role": "assistant", "content": "Bladder cancer is a disease in which certain cells in the bladder become abnormal and multiply without control or order. The bladder is a hollow, muscular organ in the lower abdomen that stores urine until it is ready to be excreted from the body. The most common type of bladder cancer begins in cells lining the inside of the bladder and is called transitional cell carcinoma (TCC). Bladder cancer may cause blood in the urine, pain during urination, frequent urination, or the feeling that one needs to urinate without results. These signs and symptoms are not specific to bladder cancer, however. They also can be caused by noncancerous conditions such as infections.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Acrodysplasia scoliosis ?"}, {"role": "assistant", "content": "Acrodysplasia scoliosis is a rare condition that has been reported in two brothers. The condition is characterized by scoliosis, brachydactyly (unusually short fingers and toes), spina bifida occulta, and carpal synostosis (fused bones of the wrist). The underlying genetic cause of the condition is unknown, but it appears to be inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Hydrocephalus ?"}, {"role": "assistant", "content": "Hydrocephalus is most often treated with the surgical placement of a shunt system. This system diverts the flow of CSF from a site within the central nervous system to another area of the body where it can be absorbed as part of the circulatory process. A limited number of individuals can be treated with an alternative procedure called third ventriculostomy. In this procedure, a small hole is made in the floor of the third ventricle, allowing the CSF to bypass the obstruction and flow toward the site of resorption around the surface of the brain.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Lissencephaly 1 ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Lissencephaly 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Lissencephaly 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cerebellar hypoplasia - Heterotopia - Hypoplasia of the brainstem - Intellectual disability - Lissencephaly - Muscular hypotonia of the trunk - Pachygyria - Postnatal microcephaly - Seizures - Spastic tetraparesis - Sporadic - Variable expressivity - Ventriculomegaly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) pyruvate carboxylase deficiency ?"}, {"role": "assistant", "content": "Pyruvate carboxylase deficiency is an inherited disorder that causes lactic acid and other potentially toxic compounds to accumulate in the blood. High levels of these substances can damage the body's organs and tissues, particularly in the nervous system. Researchers have identified at least three types of pyruvate carboxylase deficiency, which are distinguished by the severity of their signs and symptoms. Type A, which has been identified mostly in people from North America, has moderately severe symptoms that begin in infancy. Characteristic features include developmental delay and a buildup of lactic acid in the blood (lactic acidosis). Increased acidity in the blood can lead to vomiting, abdominal pain, extreme tiredness (fatigue), muscle weakness, and difficulty breathing. In some cases, episodes of lactic acidosis are triggered by an illness or periods without food (fasting). Children with pyruvate carboxylase deficiency type A typically survive only into early childhood. Pyruvate carboxylase deficiency type B has life-threatening signs and symptoms that become apparent shortly after birth. This form of the condition has been reported mostly in Europe, particularly France. Affected infants have severe lactic acidosis, a buildup of ammonia in the blood (hyperammonemia), and liver failure. They experience neurological problems including weak muscle tone (hypotonia), abnormal movements, seizures, and coma. Infants with this form of the condition usually survive for less than 3 months after birth. A milder form of pyruvate carboxylase deficiency, sometimes called type C, has also been described. This type is characterized by slightly increased levels of lactic acid in the blood and minimal signs and symptoms affecting the nervous system.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) What I need to know about Preparing for Pregnancy if I Have Diabetes ?"}, {"role": "assistant", "content": "If you have diabetes,* the best time to control your blood glucose, also called blood sugar, is before you get pregnant. High blood glucose levels can be harmful to your baby during the first weeks of pregnancyeven before you know you are pregnant. Blood glucose targets are different for women who are trying to get pregnant. Targets are numbers you aim for.\n \nPregnancy and new motherhood are times of great excitement and change for any woman. If you have type 1 or type 2 diabetes and are hoping to get pregnant soon, you can learn what to do to have a healthy baby. You can also learn how to take care of yourself and your diabetes before, during, and after your pregnancy. If you have diabetes and are already pregnant, don't panic! Just make sure you are doing everything you can to take care of yourself and your diabetes during your pregnancy.\n \nFor Women with Gestational Diabetes More information about gestational diabetes, a type of diabetes that develops only during pregnancy, is provided in the NIDDK health topic, What I need to know about Gestational Diabetes.\n \n*See Pronunciation Guide for tips on how to say the words in bold type.\n \nIf you have diabetes, your pregnancy is considered high risk, which means you have an increased risk of problems during your pregnancy. You need to pay special attention to your health, and you may need to see doctors who specialize in treating diabetes or its complications. Millions of high-risk pregnancies, such as those in which women are older than 35 or carrying two or more babies, produce perfectly healthy babies without affecting the mother's health.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Emery-Dreifuss muscular dystrophy, X-linked ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Emery-Dreifuss muscular dystrophy, X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Emery-Dreifuss muscular dystrophy, X-linked. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the neck - Achilles tendon contracture - Atrioventricular block - Childhood onset - Decreased cervical spine flexion due to contractures of posterior cervical muscles - Elbow flexion contracture - Elevated serum creatine phosphokinase - Juvenile onset - Pectus excavatum - Primary atrial arrhythmia - Slow progression - Sudden cardiac death - Type 1 muscle fiber atrophy - Waddling gait - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Kyasanur Forest Disease (KFD) ?"}, {"role": "assistant", "content": "Diagnosis can be made in the early stage of illness by molecular detection by PCR or virus isolation from blood. Later, serologic testing using enzyme-linked immunosorbent serologic assay (ELISA) can be performed.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Spondyloepimetaphyseal dysplasia Matrilin-3 related ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Spondyloepimetaphyseal dysplasia Matrilin-3 related? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondyloepimetaphyseal dysplasia Matrilin-3 related. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Bowing of the legs - Disproportionate short-limb short stature - Dysplastic iliac wings - Flat acetabular roof - Hypoplastic pubic bone - Irregular epiphyses - Limited elbow extension - Lumbar hyperlordosis - Metaphyseal spurs - Metaphyseal widening - Micromelia - Narrow iliac wings - Ovoid vertebral bodies - Platyspondyly - Posterior rib cupping - Short long bone - Small epiphyses - Spondyloepimetaphyseal dysplasia - Thoracic hypoplasia - Waddling gait - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Mucopolysaccharidosis type IVA ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Mucopolysaccharidosis type IVA? The Human Phenotype Ontology provides the following list of signs and symptoms for Mucopolysaccharidosis type IVA. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of epiphysis morphology 90% Abnormality of the metaphyses 90% Abnormality of the ribs 90% Delayed skeletal maturation 90% Gait disturbance 90% Genu valgum 90% Hearing impairment 90% Joint hypermobility 90% Mucopolysacchariduria 90% Opacification of the corneal stroma 90% Pectus carinatum 90% Reduced bone mineral density 90% Short neck 90% Short stature 90% Short thorax 90% Abnormality of dental enamel 50% Abnormality of the heart valves 50% Abnormality of the hip bone 50% Anteverted nares 50% Carious teeth 50% Coarse facial features 50% Hernia 50% Hyperlordosis 50% Joint dislocation 50% Kyphosis 50% Platyspondyly 50% Scoliosis 50% Spinal canal stenosis 50% Wide mouth 50% Cognitive impairment 7.5% Macrocephaly 7.5% Autosomal recessive inheritance - Cervical myelopathy - Cervical subluxation - Chondroitin sulfate excretion in urine - Constricted iliac wings - Coxa valga - Disproportionate short-trunk short stature - Epiphyseal deformities of tubular bones - Flaring of rib cage - Grayish enamel - Hepatomegaly - Hypoplasia of the odontoid process - Inguinal hernia - Joint laxity - Juvenile onset - Keratan sulfate excretion in urine - Mandibular prognathia - Metaphyseal widening - Osteoporosis - Ovoid vertebral bodies - Pointed proximal second through fifth metacarpals - Prominent sternum - Recurrent upper respiratory tract infections - Restrictive lung disease - Ulnar deviation of the wrist - Widely spaced teeth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) juvenile primary lateral sclerosis ?"}, {"role": "assistant", "content": "Juvenile primary lateral sclerosis is a rare disorder characterized by progressive weakness and tightness (spasticity) of muscles in the arms, legs, and face. The features of this disorder are caused by damage to motor neurons, which are specialized nerve cells in the brain and spinal cord that control muscle movement. Symptoms of juvenile primary lateral sclerosis begin in early childhood and progress slowly over many years. Early symptoms include clumsiness, muscle weakness and spasticity in the legs, and difficulty with balance. As symptoms progress, the spasticity spreads to the arms and hands and individuals develop slurred speech, drooling, difficulty swallowing, and an inability to walk.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Cerebro-Oculo-Facio-Skeletal Syndrome (COFS) ?"}, {"role": "assistant", "content": "Cerebro-oculo-facio-skeletal syndrome (COFS) is a pediatric, genetic, degenerative disorder that involves the brain and the spinal cord. It is characterized by craniofacial and skeletal abnormalities, severely reduced muscle tone, and impairment of reflexes. Symptoms may include large, low-set ears, small eyes, microcephaly (abnormal smallness of the head), micrognathia (abnormal smallness of the jaws), clenched fists, wide-set nipples, vision impairments, involuntary eye movements, and impaired cognitive development, which can be moderate or severe. Respiratory infections are frequent. COFS is diagnosed at birth. Ultrasound technology can detect fetuses with COFS at an early stage of pregnancy, as the fetus moves very little, and some of the abnormalities result, in part, from lack of movement.\n \nA small number of individuals with COFS have a mutation in the \"ERCC6\" gene and are more appropriately diagnosed as having Cockayne Syndrome Type II. Other individuals with COFS may have defects in the xeroderma pigmentosum genes \"XPG\" or \"XPD.\" Still others who are diagnosed with COFS have no identifiable genetic defect and are presumably affected because of mutations in a distinct, as-yet-unknown gene.\n \nNOTE: This disorder is not the same as Cohen's syndrome (cerebral obesity ocular skeletal syndrome).", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What to do for Nutrition for Advanced Chronic Kidney Disease in Adults ?"}, {"role": "assistant", "content": "- A person may prevent or delay some health problems from chronic kidney disease (CKD) by eating the right foods and avoiding foods high in sodium, potassium, and phosphorus. - The kidneys remove wastes and extra water from the blood and make urine. - Medical nutrition therapy (MNT) is the use of counseling by a registered dietitian to help promote a medical or health goal. - Dietitians who specialize in helping people with CKD are called renal dietitians. - People with advanced CKD often lose their appetites and consume fewer caloriesimportant units of energy in foodand may lose too much weight. - Eating more protein than the body needs may put an extra burden on the kidneys and cause kidney function to decline faster. Most peoplewith or without CKDcan get the daily protein they need by eating two 3-ounce servings of meat or meat substitute. - People with CKD are at higher risk of having a heart attack or stroke. - Everyone needs dietary fat, but some fats are healthier than others. - Too much sodium in a persons diet can be harmful because it causes blood to hold fluid. People with CKD need to be careful not to let too much fluid build up in their bodies. - People with advanced CKD should avoid salt substitutes that use potassium because CKD limits the bodys ability to eliminate potassium from the blood. - Damaged kidneys allow potassium to build up in the blood, causing serious heart problems. Potassium is found in many fruits and vegetables, such as bananas, potatoes, avocados, and melons. - Too much phosphorus in the blood pulls calcium from the bones, making the bones weak and likely to break. - People with advanced CKD may need to limit how much they drink because damaged kidneys can't remove extra fluid. - Many patients find that keeping track of their test results helps them see how their treatment is working. Patients can ask their health care provider for copies of their lab reports and ask to have them explained, noting any results out of the normal range.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Kienbock's disease inherited ?"}, {"role": "assistant", "content": "Is Kienbock's disease inherited? There is currently no evidence that Kienbock's disease is inherited. However, the cause of Kienbock's disease is not known. It is possible that unidentified genetic factors contribute to the development of the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to Andermann syndrome ?"}, {"role": "assistant", "content": "Mutations in the SLC12A6 gene cause Andermann syndrome. The SLC12A6 gene provides instructions for making a protein called a K-Cl cotransporter. This protein is involved in moving charged atoms (ions) of potassium (K) and chlorine (Cl) across the cell membrane. The positively charged potassium ions and negatively charged chlorine ions are moved together (cotransported), so that the charges inside and outside the cell membrane are unchanged (electroneutral). Electroneutral cotransport of ions across cell membranes is involved in many functions of the body. While the specific function of the K-Cl cotransporter produced from the SLC12A6 gene is unknown, it seems to be critical for the development and maintenance of nerve tissue. It may be involved in regulating the amounts of potassium, chlorine, or water in cells and intercellular spaces. The K-Cl cotransporter protein may also help regulate the activity of other proteins that are sensitive to ion concentrations. Mutations in the SLC12A6 gene that cause Andermann syndrome disrupt the function of the K-Cl cotransporter protein. The lack of functional protein normally produced from the SLC12A6 gene is believed to interfere with the development of the corpus callosum and maintenance of the nerves that transmit signals needed for movement and sensation, resulting in the signs and symptoms of Andermann syndrome.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Movement Disorders ?"}, {"role": "assistant", "content": "Imagine if parts of your body moved when you didn't want them to. If you have a movement disorder, you experience these kinds of impaired movement. Dyskinesia is abnormal uncontrolled movement and is a common symptom of many movement disorders. Tremors are a type of dyskinesia. Nerve diseases cause many movement disorders, such as Parkinson's disease. Other causes include injuries, autoimmune diseases, infections and certain medicines. Many movement disorders are inherited, which means they run in families. Treatment varies by disorder. Medicine can cure some disorders. Others get better when an underlying disease is treated. Often, however, there is no cure. In that case, the goal of treatment is to improve symptoms and relieve pain.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Pituitary Tumors ?"}, {"role": "assistant", "content": "Imaging studies and tests that examine the blood and urine are used to detect (find) and diagnose a pituitary tumor. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken. - Eye exam: An exam to check vision and the general health of the eyes. - Visual field exam: An exam to check a persons field of vision (the total area in which objects can be seen). This test measures both central vision (how much a person can see when looking straight ahead) and peripheral vision (how much a person can see in all other directions while staring straight ahead). The eyes are tested one at a time. The eye not being tested is covered. - Neurological exam : A series of questions and tests to check the brain, spinal cord, and nerve function. The exam checks a persons mental status, coordination, and ability to walk normally, and how well the muscles, senses, and reflexes work. This may also be called a neuro exam or a neurologic exam. - MRI (magnetic resonance imaging) with gadolinium : A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the brain and spinal cord. A substance called gadolinium is injected into a vein. The gadolinium collects around the cancer cells so they show up brighter in the picture. This procedure is also called nuclear magnetic resonance imaging (NMRI). - Blood chemistry study : A procedure in which a blood sample is checked to measure the amounts of certain substances, such as glucose (sugar), released into the blood by organs and tissues in the body. An unusual (higher or lower than normal) amount of a substance can be a sign of disease. - Blood tests: Tests to measure the levels of testosterone or estrogen in the blood. A higher or lower than normal amount of these hormones may be a sign of pituitary tumor. - Twenty-four-hour urine test: A test in which urine is collected for 24 hours to measure the amounts of certain substances. An unusual (higher or lower than normal) amount of a substance can be a sign of disease in the organ or tissue that makes it. A higher than normal amount of the hormone cortisol may be a sign of a pituitary tumor and Cushing syndrome. - High-dose dexamethasone suppression test: A test in which one or more high doses of dexamethasone are given. The level of cortisol is checked from a sample of blood or from urine that is collected for three days. This test is done to check if the adrenal gland is making too much cortisol or if the pituitary gland is telling the adrenal glands to make too much cortisol. - Low-dose dexamethasone suppression test: A test in which one or more small doses of dexamethasone are given. The level of cortisol is checked from a sample of blood or from urine that is collected for three days. This test is done to check if the adrenal gland is making too much cortisol. - Venous sampling for pituitary tumors: A procedure in which a sample of blood is taken from veins coming from the pituitary gland. The sample is checked to measure the amount of ACTH released into the blood by the gland. Venous sampling may be done if blood tests show there is a tumor making ACTH, but the pituitary gland looks normal in the imaging tests. - Biopsy : The removal of cells or tissues so they can be viewed under a microscope by a pathologist to check for signs of cancer. The following tests may be done on the sample of tissue that is removed: - Immunohistochemistry : A test that uses antibodies to check for certain antigens in a sample of tissue. The antibody is usually linked to a radioactive substance or a dye that causes the tissue to light up under a microscope. This type of test may be used to tell the difference between different types of cancer. - Immunocytochemistry : A test that uses antibodies to check for certain antigens in a sample of cells. The antibody is usually linked to a radioactive substance or a dye that causes the cells to light up under a microscope. This type of test may be used to tell the difference between different types of cancer. - Light and electron microscopy : A laboratory test in which cells in a sample of tissue are viewed under regular and high-powered microscopes to look for certain changes in the cells.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to Fabry disease ?"}, {"role": "assistant", "content": "Fabry disease is caused by mutations in the GLA gene. This gene provides instructions for making an enzyme called alpha-galactosidase A. This enzyme is active in lysosomes, which are structures that serve as recycling centers within cells. Alpha-galactosidase A normally breaks down a fatty substance called globotriaosylceramide. Mutations in the GLA gene alter the structure and function of the enzyme, preventing it from breaking down this substance effectively. As a result, globotriaosylceramide builds up in cells throughout the body, particularly cells lining blood vessels in the skin and cells in the kidneys, heart, and nervous system. The progressive accumulation of this substance damages cells, leading to the varied signs and symptoms of Fabry disease. GLA gene mutations that result in an absence of alpha-galactosidase A activity lead to the classic, severe form of Fabry disease. Mutations that decrease but do not eliminate the enzyme's activity usually cause the milder, late-onset forms of Fabry disease that affect only the heart or kidneys.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Hallermann-Streiff syndrome ?"}, {"role": "assistant", "content": "Hallermann-Streiff syndrome is a rare, congenital condition characterized mainly by abnormalities of the skull and facial bones; characteristic facial features; sparse hair; eye abnormalities; dental defects; degenerative skin changes; and proportionate short stature. Intellectual disability is present in some individuals. Almost all reported cases of the condition appear to have occurred randomly for unknown reasons (sporadically) and are thought to have resulted from a new mutation in the affected individual. Treatment is symptomatic and supportive.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Rett syndrome ?"}, {"role": "assistant", "content": "Rett syndrome is a progressive, neuro-developmental condition that primarily affects girls. Affected girls appear to have normal psychomotor development during the first 6 to 18 months of life, followed by a developmental \"plateau,\" and then rapid regression in language and motor skills. Additional signs and symptoms may include repetitive, stereotypic hand movements; fits of screaming and inconsolable crying; autistic features; panic-like attacks; teeth grinding (bruxism); episodic apnea and/or hyperpnea; gait ataxia and apraxia; tremors; seizures; and slowed head growth. Some people have an atypical form of Rett syndrome that may be more mild or more severe. Classic Rett syndrome is most commonly caused by mutations in the MECP2 gene and is usually inherited in an X-linked dominant manner. The vast majority of cases are not inherited from a parent, but are due to a new mutation in the affected person. Treatment mainly focuses on the specific signs and symptoms of the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Microphthalmia syndromic 8 ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Microphthalmia syndromic 8? The Human Phenotype Ontology provides the following list of signs and symptoms for Microphthalmia syndromic 8. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia affecting the eye 90% Cognitive impairment 90% Mandibular prognathia 90% Median cleft lip 90% Microcephaly 90% Split foot 90% Cryptorchidism 50% Triphalangeal thumb 50% Visual impairment 50% Ventricular septal defect 7.5% Blepharophimosis - Cleft palate - Intellectual disability - Microcornea - Microphthalmia - Oral cleft - Premature skin wrinkling - Short palpebral fissure - Widely-spaced maxillary central incisors - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Sulfite oxidase deficiency ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Sulfite oxidase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Sulfite oxidase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Agitation - Ataxia - Autosomal recessive inheritance - Choreoathetosis - Death in infancy - Decreased urinary sulfate - Delayed eruption of teeth - Ectopia lentis - Eczema - Fine hair - Generalized dystonia - Hemiplegia - Hypertonia - Increased urinary sulfite - Infantile muscular hypotonia - Seizures - Sulfite oxidase deficiency - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Who is at risk for Extragonadal Germ Cell Tumors? ?"}, {"role": "assistant", "content": "Age and gender can affect the risk of extragonadal germ cell tumors. Anything that increases your chance of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. Talk with your doctor if you think you may be at risk. Risk factors for malignant extragonadal germ cell tumors include the following: - Being male. - Being age 20 or older. - Having Klinefelter syndrome.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) familial idiopathic basal ganglia calcification ?"}, {"role": "assistant", "content": "Familial idiopathic basal ganglia calcification (FIBGC, formerly known as Fahr disease) is a condition characterized by abnormal deposits of calcium (calcification) in the brain. These calcium deposits typically occur in the basal ganglia, which are structures deep within the brain that help start and control movement; however, other brain regions can also be affected. The signs and symptoms of FIBGC include movement disorders and psychiatric or behavioral difficulties. These problems begin in adulthood, usually in a person's thirties. The movement difficulties experienced by people with FIBGC include involuntary tensing of various muscles (dystonia), problems coordinating movements (ataxia), and uncontrollable movements of the limbs (choreoathetosis). Affected individuals often have seizures as well. The psychiatric and behavioral problems include difficulty concentrating, memory loss, changes in personality, a distorted view of reality (psychosis), and decline in intellectual function (dementia). An estimated 20 to 30 percent of people with FIBGC have one of these psychiatric disorders. The severity of this condition varies among affected individuals; some people have no symptoms related to the brain calcification, whereas other people have significant movement and psychiatric problems.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Pycnodysostosis ?"}, {"role": "assistant", "content": "Pycnodysostosis is a rare condition characterized by moderate short stature (1.35m to 1.5m), increased density of the bones (osteosclerosis/osteopetrosis), underdevelopment of the tips of the fingers with absent or small nails, an abnomal collarbone (clavicle), distinctive facial features including a large head with a small face and chin, underdeveloped facial bones, a high forehead and dental abnormalities. Pycnodysostosis is an autosomal recessive genetic condition. The gene has been mapped to the same location as the gene for cathepsin K on chromosome 1q21. The diagnosis of pycnodysostosis is based on physical features and X-ray findings. Molecular genetic testing is available. Management is symptomatic. Individuals need orthopedic monitoring, treatment of fractures, appropriate dental care, and craniofacial surgery may be needed.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Marden-Walker syndrome ?"}, {"role": "assistant", "content": "Marden-Walker syndrome is a connective tissue disorder characterized by a mask-like face with blepharophimosis (a narrowing of the eye opening), micrognathia, cleft or high-arched palate, low-set ears, congenital joint contractures, decreased muscular mass, failure to thrive and psychomotor retardation (a generalized slowing down of physical reactions, movements, and speech). While the underlying cause has not been clearly established, it is believed to be a developmental disorder of the central nervous system which is inherited in an autosomal recessive manner.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Bilateral perisylvian polymicrogyria ?"}, {"role": "assistant", "content": "How might bilateral perisylvian polymicrogyria be treated? There is no cure for bilateral perisylvian polymicrogyria (BPP). Treatment is generally based on the signs and symptoms present in each person. For example, medications may be prescribed to treat seizures and/or epilepsy. People affected by BPP may also benefit from physical therapy, occupational therapy and/or speech therapy. Please speak with a healthcare provider for more specific information regarding personal medical management.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Branchiooculofacial syndrome ?"}, {"role": "assistant", "content": "How is branchiooculofacial syndrome (BOFS) diagnosed? BOFS can be diagnosed clinically based on the characteristic features of this condition. Genetic testing can also confirm the diagnosis. GeneTests lists the names of laboratories that are performing genetic testing for branchiooculofacial syndrome. To view the contact information for the clinical laboratories conducting testing, click here. To access the contact information for the research laboratories performing genetic testing, click here. Please note: Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Duane-radial ray syndrome ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of Duane-radial ray syndrome: - Gene Review: Gene Review: SALL4-Related Disorders - Genetic Testing Registry: Duane-radial ray syndrome - MedlinePlus Encyclopedia: Skeletal Limb Abnormalities These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Respiratory Distress Syndrome ?"}, {"role": "assistant", "content": "Respiratory distress syndrome (RDS) is common in premature infants. Thus, doctors usually recognize and begin treating the disorder as soon as babies are born.\n \nDoctors also do several tests to rule out other conditions that could be causing an infant's breathing problems. The tests also can confirm that the doctors have diagnosed the condition correctly.\n \nThe tests include:\n \nChest x ray. A chest x ray creates a of the structures inside the chest, such as the heart and lungs. This test can show whether your infant has signs of RDS. A chest x ray also can detect problems, such as a collapsed lung, that may require urgent treatment.\n \nBlood tests. Blood tests are used to see whether an infant has enough oxygen in his or her blood. Blood tests also can help find out whether an infection is causing the infant's breathing problems.\n \nEchocardiography (echo). This test uses sound waves to create a moving picture of the heart. Echo is used to rule out heart defects as the cause of an infant's breathing problems.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Parsonage Turner syndrome ?"}, {"role": "assistant", "content": "Parsonage Turner syndrome is characterized by the sudden onset of shoulder and upper arm pain followed by progressive (worsening over time) weakness and/or atrophy of the affected area. Although the exact cause is unknown, researchers believe that most cases are due to an autoimmune response following exposure to an illness or environmental factor. Suspected triggers include viral and bacterial infections; surgery; vaccinations; injury; childbirth; strenuous exercise; certain medical procedures; and various health conditions. Treatment is symptomatic and may include pain relievers and physical therapy.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to prevent Deep Vein Thrombosis ?"}, {"role": "assistant", "content": "You can take steps to prevent deep vein thrombosis (DVT) and pulmonary embolism (PE). If you're at risk for these conditions:\n \nSee your doctor for regular checkups.\n \nTake all medicines as your doctor prescribes.\n \nGet out of bed and move around as soon as possible after surgery or illness (as your doctor recommends). Moving around lowers your chance of developing a blood clot.\n \nExercise your lower leg muscles during long trips. This helps prevent blood clots from forming.\n \nIf you've had DVT or PE before, you can help prevent future blood clots. Follow the steps above and:\n \nTake all medicines that your doctor prescribes to prevent or treat blood clots\n \nFollow up with your doctor for tests and treatment\n \nUse compression stockings as your doctor directs to prevent leg swelling\n \nContact your doctor at once if you have any signs or symptoms of DVT or PE. For more information, go to \"What Are the Signs and Symptoms of Deep Vein Thrombosis?\"\n \nTravel Tips\n \nThe risk of developing DVT while traveling is low. The risk increases if the travel time is longer than 4 hours or you have other DVT risk factors.\n \nDuring long trips, it may help to:\n \nWalk up and down the aisles of the bus, train, or airplane. If traveling by car, stop about every hour and walk around.\n \nMove your legs and flex and stretch your feet to improve blood flow in your calves.\n \nWear loose and comfortable clothing.\n \nDrink plenty of fluids and avoid alcohol.\n \nIf you have risk factors for DVT, your doctor may advise you to wear compression stockings while traveling. Or, he or she may suggest that you take a blood-thinning medicine before traveling.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for white sponge nevus ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of white sponge nevus: - Genetic Testing Registry: White sponge nevus of cannon These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Depression ?"}, {"role": "assistant", "content": "Major depressive disorder, also called major depression or clinical depression, is characterized by a combination of symptoms that interfere with your ability to work, sleep, concentrate, eat, and enjoy activities you once liked. Major depression keeps a person from functioning normally. Dysthymic disorder, or dysthymia, is a less severe but sometimes more long-lasting form of depression. It is characterized by symptoms lasting two years or longer that keep you from functioning normally or feeling well. Subsyndromal depression, affecting many older adults, includes real symptoms of depression that are less severe than major depression or dysthymia. Having sybsydromal depression may increase your risk of developing major depression. Psychotic depression occurs when a person has severe depression plus some form of psychosis, such as having disturbing false beliefs or a break with reality (delusions), or hearing or seeing upsetting things that others cannot hear or see (hallucinations). Bipolar depression also called manic-depressive illness, is not as common as major depression or dysthymia. Bipolar disorder is characterized by cycling mood changesfrom extreme highs (e.g., mania) to extreme lows (e.g., depression).", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Bilateral frontoparietal polymicrogyria ?"}, {"role": "assistant", "content": "Bilateral frontoparietal polymicrogyria (BFPP) is a rare neurological disorder that affects the cerebral cortex (the outer surface of the brain). BFPP specifically affects the frontal and parietal lobes on both sides of the brain (bilateral). Signs and symptoms typically include moderate to severe intellectual disability, developmental delay, seizures, cerebellar ataxia, strabismus, and dysconjugate gaze (eyes that are not aligned). Some cases are caused by mutations in the GPR56 gene and are inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Endometrial Cancer ?"}, {"role": "assistant", "content": "Tests that examine the endometrium are used to detect (find) and diagnose endometrial cancer. Because endometrial cancer begins inside the uterus, it does not usually show up in the results of a Pap test. For this reason, a sample of endometrial tissue must be removed and checked under a microscope to look for cancer cells. One of the following procedures may be used: - Endometrial biopsy : The removal of tissue from the endometrium (inner lining of the uterus) by inserting a thin, flexible tube through the cervix and into the uterus. The tube is used to gently scrape a small amount of tissue from the endometrium and then remove the tissue samples. A pathologist views the tissue under a microscope to look for cancer cells. - Dilatation and curettage : A procedure to remove samples of tissue from the inner lining of the uterus. The cervix is dilated and a curette (spoon-shaped instrument) is inserted into the uterus to remove tissue. The tissue samples are checked under a microscope for signs of disease. This procedure is also called a D&C. - Hysteroscopy: A procedure to look inside the uterus for abnormal areas. A hysteroscope is inserted through the vagina and cervix into the uterus. A hysteroscope is a thin, tube-like instrument with a light and a lens for viewing. It may also have a tool to remove tissue samples, which are checked under a microscope for signs of cancer. Other tests and procedures used to diagnose endometrial cancer include the following: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken. - Transvaginal ultrasound exam: A procedure used to examine the vagina, uterus, fallopian tubes, and bladder. An ultrasound transducer (probe) is inserted into the vagina and used to bounce high-energy sound waves (ultrasound) off internal tissues or organs and make echoes. The echoes form a picture of body tissues called a sonogram. The doctor can identify tumors by looking at the sonogram.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Angina ?"}, {"role": "assistant", "content": "Treatments for angina include lifestyle changes, medicines, medical procedures, cardiac rehabilitation (rehab), and other therapies. The main goals of treatment are to:\n \nReduce pain and discomfort and how often it occurs\n \nPrevent or lower your risk for heart attack and death by treating your underlying heart condition\n \nLifestyle changes and medicines may be the only treatments needed if your symptoms are mild and aren't getting worse. If lifestyle changes and medicines don't control angina, you may need medical procedures or cardiac rehab.\n \nUnstable angina is an emergency condition that requires treatment in a hospital.\n \nLifestyle Changes\n \nMaking lifestyle changes can help prevent episodes of angina. You can:\n \nSlow down or take rest breaks if physical exertion triggers angina.\n \nAvoid large meals and rich foods that leave you feeling stuffed if heavy meals trigger angina.\n \nTry to avoid situations that make you upset or stressed if emotional stress triggers angina. Learn ways to handle stress that can't be avoided.\n \nYou also can make lifestyle changes that help lower your risk for coronary heart disease. One of the most important changes is to quit smoking. Smoking can damage and tighten blood vessels and raise your risk for CHD. Talk with your doctor about programs and products that can help you quit. Also, try to avoid secondhand smoke.\n \nIf you have trouble quitting smoking on your own, consider joining a support group. Many hospitals, workplaces, and community groups offer classes to help people quit smoking.\n \nFor more information about how to quit smoking, go to the Diseases and Conditions Index (DCI) Smoking and Your Heart article and the National Heart, Lung, and Blood Institutes (NHLBIs) \"Your Guide to a Healthy Heart.\"\n \nFollowing a healthy diet is another important lifestyle change. A healthy diet can prevent or reduce high blood pressure and high blood cholesterol and help you maintain a healthy weight.\n \nA healthy diet includes a variety of fruits and vegetables (including beans and peas). It also includes whole grains, lean meats, poultry without skin, seafood, and fat-free or low-fat milk and dairy products. A healthy diet also is low in sodium (salt), added sugars, solid fats, and refined grains.\n \nFor more information about following a healthy diet, go to the NHLBIs Your Guide to Lowering Your Blood Pressure With DASH and the U.S. Department of Agricultures ChooseMyPlate.gov Web site. Both resources provide general information about healthy eating.\n \nOther important lifestyle changes include:\n \nBeing physically active. Check with your doctor to find out how much and what kinds of activity are safe for you. For more information, go to the DCI Physical Activity and Your Heart article.\n \nMaintaining a healthy weight. If youre overweight or obese, work with your doctor to create a reasonable weight-loss plan. Controlling your weight helps you control CHD risk factors.\n \nTaking all medicines as your doctor prescribes, especially if you have diabetes.\n \nMedicines\n \nNitrates are the medicines most commonly used to treat angina. They relax and widen blood vessels. This allows more blood to flow to the heart, while reducing the hearts workload.\n \nNitroglycerin (NI-tro-GLIS-er-in) is the most commonly used nitrate for angina. Nitroglycerin that dissolves under your tongue or between your cheek and gum is used to relieve angina episodes.\n \nNitroglycerin pills and skin patches are used to prevent angina episodes. However, pills and skin patches act too slowly to relieve pain during an angina attack.\n \nOther medicines also are used to treat angina, such as beta blockers, calcium channel blockers, ACE inhibitors, oral antiplatelet medicines, or anticoagulants (blood thinners). These medicines can help:\n \nLower blood pressure and cholesterol levels\n \nSlow the heart rate\n \nRelax blood vessels\n \nReduce strain on the heart\n \nPrevent blood clots from forming\n \nPeople who have stable angina may be advised to get annual flu shots.\n \nMedical Procedures\n \nIf lifestyle changes and medicines don't control angina, you may need a medical procedure to treat the underlying heart disease. Both angioplasty (AN-jee-oh-plas-tee) and coronary artery bypass grafting (CABG) are commonly used to treat heart disease.\n \nAngioplasty opens blocked or narrowed coronary arteries. During angioplasty, a thin tube with a balloon or other device on the end is threaded through a blood vessel to the narrowed or blocked coronary artery.\n \nOnce in place, the balloon is inflated to push the plaque outward against the wall of the artery. This widens the artery and restores blood flow.\n \nAngioplasty can improve blood flow to your heart and relieve chest pain. A small mesh tube called a stent usually is placed in the artery to help keep it open after the procedure.\n \nDuring CABG, healthy arteries or veins taken from other areas in your body are used to bypass (that is, go around) your narrowed coronary arteries. Bypass surgery can improve blood flow to your heart, relieve chest pain, and possibly prevent a heart attack.\n \nYou will work with your doctor to decide which treatment is better for you.\n \nCardiac Rehabilitation\n \nYour doctor may recommend cardiac rehab for angina or after angioplasty, CABG, or a heart attack. Cardiac rehab is a medically supervised program that can help improve the health and well-being of people who have heart problems.\n \nThe cardiac rehab team may include doctors, nurses, exercise specialists, physical and occupational therapists, dietitians or nutritionists, and psychologists or other mental health specialists.\n \nRehab has two parts:\n \nExercise training. This part helps you learn how to exercise safely, strengthen your muscles, and improve your stamina. Your exercise plan will be based on your personal abilities, needs, and interests.\n \nEducation, counseling, and training. This part of rehab helps you understand your heart condition and find ways to reduce your risk for future heart problems. The rehab team will help you learn how to adjust to a new lifestyle and deal with your fears about the future.\n \nFor more information about cardiac rehab, go to the DCI Cardiac Rehabilitation article.\n \nEnhanced External Counterpulsation Therapy\n \nEnhanced external counterpulsation (EECP) therapy is helpful for some people who have angina. Large cuffs, similar to blood pressure cuffs, are put on your legs. The cuffs are inflated and deflated in sync with your heartbeat.\n \nEECP therapy improves the flow of oxygen-rich blood to your heart muscle and helps relieve angina. You typically get 35 1-hour treatments over 7 weeks.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Dihydropyrimidine dehydrogenase deficiency ?"}, {"role": "assistant", "content": "How is dihydropyrimidine dehydrogenase (DPD) deficiency diagnosed? DPD deficiency may be diagnosed in various ways. In individuals with complete or profound DPD deficiency, laboratory testing can detect elevated levels of uracil and/or thymine in plasma or urine. Partial DPD deficiency is more difficult to detect, which has led to the development of a radioenzymatic test for the DPD enzyme. This test has remained the gold standard for diagnosing DPD deficiency even after the development of genetic testing for the condition, because of the complexity of the DPYD gene and the presence of multiple DNA sequence variations present in most affected individuals. Various types of cells and tissues can be examined this way. More recently, a rapid, noninvasive, and cost-effective breath test was developed. This test permits the evaluation of DPD activity (normal activity and partial or profound deficiency) before the administration of fluoropyrmidine drugs such as 5-FU.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to Leber hereditary optic neuropathy ?"}, {"role": "assistant", "content": "Mutations in the MT-ND1, MT-ND4, MT-ND4L, or MT-ND6 gene can cause LHON. These genes are found in the DNA of cellular structures called mitochondria, which convert the energy from food into a form that cells can use. Although most DNA is packaged in chromosomes within the nucleus, mitochondria also have a small amount of their own DNA, known as mitochondrial DNA or mtDNA. The genes associated with LHON each provide instructions for making a protein involved in normal mitochondrial function. These proteins are part of a large enzyme complex in mitochondria that helps convert oxygen, fats, and simple sugars to energy. Mutations in any of the genes disrupt this process. It remains unclear how these genetic changes cause the death of cells in the optic nerve and lead to the specific features of LHON. A significant percentage of people with a mutation that causes LHON do not develop any features of the disorder. Specifically, more than 50 percent of males with a mutation and more than 85 percent of females with a mutation never experience vision loss or related health problems. Additional factors may determine whether a person develops the signs and symptoms of this disorder. Environmental factors such as smoking and alcohol use may be involved, although studies have produced conflicting results. Researchers are also investigating whether changes in additional genes contribute to the development of signs and symptoms.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for incontinentia pigmenti ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of incontinentia pigmenti: - Gene Review: Gene Review: Incontinentia Pigmenti - Genetic Testing Registry: Incontinentia pigmenti syndrome - MedlinePlus Encyclopedia: Incontinentia Pigmenti Syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Nephrogenic diabetes insipidus ?"}, {"role": "assistant", "content": "Nephrogenic diabetes insipidus is a disorder in which a defect in the small tubes (tubules) in the kidneys causes a person to pass a large amount of urine. Nephrogenic diabetes insipidus occurs when the kidney tubules, which allow water to be removed from the body or reabsorbed, do not respond to a chemical in the body called antidiuretic hormone (ADH) or vasopressin. ADH normally tells the kidneys to make the urine more concentrated. As a result of the defect, the kidneys release an excessive amount of water into the urine, producing a large quantity of very dilute urine. Nephrogenic diabetes insipidus can be either acquired or hereditary. The acquired form is brought on by certain drugs and chronic diseases and can occur at any time during life. The hereditary form is caused by genetic mutations, and its signs and symptoms usually become apparent within the first few months of life.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Do you have information about Seniors' Health"}, {"role": "assistant", "content": "Summary : People in the U.S. are living longer than ever before. Many seniors live active and healthy lives. But there's no getting around one thing: as we age, our bodies and minds change. There are things you can do to stay healthy and active as you age.It is important to understand what to expect. Some changes may just be part of normal aging, while others may be a warning sign of a medical problem. It is important to know the difference, and to let your healthcare provider know if you have any concerns. Having a healthy lifestyle can help you to deal with normal aging changes and make the most of your life.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Vici syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Vici syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Vici syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of retinal pigmentation 90% Aplasia/Hypoplasia of the corpus callosum 90% Cellular immunodeficiency 90% Cognitive impairment 90% EEG abnormality 90% Generalized hypopigmentation 90% Hypertrophic cardiomyopathy 90% Hypopigmentation of hair 90% Muscular hypotonia 90% Recurrent respiratory infections 90% Short stature 90% Abnormality of neuronal migration 50% Abnormality of the palate 50% Abnormality of the renal tubule 50% Aplasia/Hypoplasia of the cerebellum 50% Cataract 50% Nystagmus 50% Optic atrophy 50% Seizures 50% Abnormality of the macula 7.5% Cerebral cortical atrophy 7.5% Hypertelorism 7.5% Hypotelorism 7.5% Limitation of joint mobility 7.5% Sensorineural hearing impairment 7.5% Sleep disturbance 7.5% Abnormal posturing - Abnormality of the thymus - Acidosis - Agenesis of corpus callosum - Albinism - Autosomal recessive inheritance - Cerebellar vermis hypoplasia - Chronic mucocutaneous candidiasis - Cleft palate - Cleft upper lip - Congenital cataract - Congenital onset - Congestive heart failure - Cutaneous anergy - Decreased number of CD4+ T cells - Decreased T cell activation - Dilated cardiomyopathy - Failure to thrive - Growth delay - Hypopigmentation of the fundus - IgG deficiency - Immunoglobulin IgG2 deficiency - Left ventricular hypertrophy - Low-set ears - Microcephaly - Motor delay - Myopathy - Ocular albinism - Penile hypospadias - Recurrent bacterial infections - Recurrent fungal infections - Recurrent viral infections - Schizencephaly - White matter neuronal heterotopia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) sudden infant death with dysgenesis of the testes syndrome ?"}, {"role": "assistant", "content": "Sudden infant death with dysgenesis of the testes syndrome (SIDDT) is a rare condition that is fatal in the first year of life; its major features include abnormalities of the reproductive system in males, feeding difficulties, and breathing problems. Infants with SIDDT who are genetically male, with one X chromosome and one Y chromosome in each cell, have underdeveloped or abnormal testes. They may also have external genitalia that appear female or that do not look clearly male or clearly female (ambiguous genitalia). In affected infants who are genetically female, with two X chromosomes in each cell, development of the internal and external reproductive organs is normal. SIDDT is associated with abnormal development of the brain, particularly the brainstem, which is the part of the brain that is connected to the spinal cord. The brainstem regulates many basic body functions, including heart rate, breathing, eating, and sleeping. It also relays information about movement and the senses between the brain and the rest of the body. Many features of SIDDT appear to be related to brainstem malfunction, including a slow or uneven heart rate, abnormal breathing patterns, difficulty controlling body temperature, unusual tongue and eye movements, abnormal reflexes, seizures, and feeding difficulties. Affected infants also have an unusual cry that has been described as similar to the bleating of a goat, which is probably a result of abnormal nerve connections between the brain and the voicebox (larynx). The brainstem abnormalities lead to death in the first year of life, when affected infants suddenly stop breathing or their heart stops beating (cardiorespiratory arrest).", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Diabetes, Heart Disease, and Stroke ?"}, {"role": "assistant", "content": "Metabolic syndrome is a grouping of traits and medical conditions that puts people at risk for both heart disease and type 2 diabetes. It is defined by the National Cholesterol Education Program as having any three of the following five traits and medical conditions:\n \nTraits and Medical Conditions Definition Elevated waist circumference Waist measurement of - 40 inches or more in men - 35 inches or more in women Elevated levels of triglycerides - 150 mg/dL or higher or Taking medication for elevated triglyceride levels Low levels of HDL (good) cholesterol - Below 40 mg/dL in men - Below 50 mg/dL in women or Taking medication for low HDL cholesterol levels Elevated blood pressure levels - 130 mm Hg or higher for systolic blood pressure or - 85 mm Hg or higher for diastolic blood pressure or Taking medication for elevated blood pressure levels Elevated fasting blood glucose levels - 100 mg/dL or higher or Taking medication for elevated blood glucose levels", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Dandy-Walker malformation with postaxial polydactyly ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Dandy-Walker malformation with postaxial polydactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Dandy-Walker malformation with postaxial polydactyly. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Dandy-Walker malformation 90% Postaxial hand polydactyly 90% Agenesis of cerebellar vermis - Aortic valve stenosis - Autosomal recessive inheritance - Chorioretinal atrophy - Cranial nerve paralysis - Depressed nasal bridge - Dilated fourth ventricle - Dolichocephaly - Elevated imprint of the transverse sinuses - Frontal bossing - Hydrocephalus - Low-set ears - Macrocephaly - Microretrognathia - Nystagmus - Partial absence of cerebellar vermis - Patent ductus arteriosus - Posterior embryotoxon - Posterior fossa cyst at the fourth ventricle - Small palpebral fissure - Thinning and bulging of the posterior fossa bones - Truncal ataxia - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by cytochrome c oxidase deficiency ?"}, {"role": "assistant", "content": "In Eastern Europe, cytochrome c oxidase deficiency is estimated to occur in 1 in 35,000 individuals. The prevalence of this condition outside this region is unknown.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Microcephaly cervical spine fusion anomalies ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Microcephaly cervical spine fusion anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Microcephaly cervical spine fusion anomalies. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the ribs 90% Cognitive impairment 90% Convex nasal ridge 90% Hyperlordosis 90% Hypoplasia of the zygomatic bone 90% Kyphosis 90% Low-set, posteriorly rotated ears 90% Malar prominence 90% Microcephaly 90% Pectus excavatum 90% Proptosis 90% Short stature 90% Sloping forehead 90% Vertebral segmentation defect 90% Abnormality of dental morphology 50% Abnormality of the clavicle 50% Abnormality of the hip bone 50% Abnormality of the ureter 50% Displacement of the external urethral meatus 50% Hyperreflexia 50% Neurological speech impairment 50% Ptosis 50% Short neck 50% Autosomal recessive inheritance - Intellectual disability - Spinal cord compression - Spinal instability - Vertebral fusion - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Essential Thrombocythemia ?"}, {"role": "assistant", "content": "Key Points\n - Essential thrombocythemia is a disease in which too many platelets are made in the bone marrow. - Patients with essential thrombocythemia may have no signs or symptoms. - Certain factors affect prognosis (chance of recovery) and treatment options for essential thrombocythemia.\n \n \n Essential thrombocythemia is a disease in which too many platelets are made in the bone marrow.\n Essential thrombocythemia causes an abnormal increase in the number of platelets made in the blood and bone marrow.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Subaortic stenosis short stature syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Subaortic stenosis short stature syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Subaortic stenosis short stature syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the aorta 90% Abnormality of the voice 90% Anteverted nares 90% Arrhythmia 90% Short stature 90% Hernia of the abdominal wall 50% Kyphosis 50% Obesity 50% Respiratory insufficiency 50% Scoliosis 50% Abnormality of lipid metabolism 7.5% Acne 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Biliary tract abnormality 7.5% Cognitive impairment 7.5% Epicanthus 7.5% Low-set, posteriorly rotated ears 7.5% Microdontia 7.5% Nystagmus 7.5% Short neck 7.5% Single transverse palmar crease 7.5% Synostosis of carpal bones 7.5% Type II diabetes mellitus 7.5% Autosomal recessive inheritance - Barrel-shaped chest - Broad finger - Broad toe - Diastema - Flat face - Glaucoma - Growth delay - Hypoplasia of midface - Hypoplasia of the maxilla - Intellectual disability - Low-set ears - Malar flattening - Membranous subvalvular aortic stenosis - Microcornea - Microphthalmia - Narrow mouth - Opacification of the corneal stroma - Pectus excavatum - Round face - Shield chest - Short foot - Short nose - Short palm - Short phalanx of finger - Short toe - Short upper lip - Small hand - Strabismus - Subaortic stenosis - Wide intermamillary distance - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) nemaline myopathy ?"}, {"role": "assistant", "content": "Nemaline myopathy is a disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement. People with nemaline myopathy have muscle weakness (myopathy) throughout the body, but it is typically most severe in the muscles of the face, neck, and limbs. This weakness can worsen over time. Affected individuals may have feeding and swallowing difficulties, foot deformities, abnormal curvature of the spine (scoliosis), and joint deformities (contractures). Most people with nemaline myopathy are able to walk, although some affected children may begin walking later than usual. As the condition progresses, some people may require wheelchair assistance. In severe cases, the muscles used for breathing are affected and life-threatening breathing difficulties can occur. Nemaline myopathy is divided into six types. In order of decreasing severity, the types are: severe congenital, Amish, intermediate congenital, typical congenital, childhood-onset, and adult-onset. The types are distinguished by the age when symptoms first appear and the severity of symptoms; however, there is overlap among the various types. The severe congenital type is the most life-threatening. Most individuals with this type do not survive past early childhood due to respiratory failure. The Amish type solely affects the Old Order Amish population of Pennsylvania and is typically fatal in early childhood. The most common type of nemaline myopathy is the typical congenital type, which is characterized by muscle weakness and feeding problems beginning in infancy. Most of these individuals do not have severe breathing problems and can walk unassisted. People with the childhood-onset type usually develop muscle weakness in adolescence. The adult-onset type is the mildest of all the various types. People with this type usually develop muscle weakness between ages 20 and 50.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Familial hypertrophic cardiomyopathy ?"}, {"role": "assistant", "content": "Familial hypertrophic cardiomyopathy (HCM) is an inherited heart condition characterized by thickening of the heart muscle. The thickening most often occurs in the muscle wall that separates the left and right ventricles from each other (interventricular septum). This may restrict the flow of oxygen-rich blood from the heart, or it may lead to less efficient pumping of blood. Signs and symptoms can vary. While some people have no symptoms, others may have chest pain, shortness of breath, palpitations, lightheadedness, dizziness, and/or fainting. Even in the absence of symptoms, familial HCM can have serious consequences such as life-threatening arrhythmias, heart failure, and an increased risk of sudden death. Familial HCM may be caused by mutations in any of several genes and is typically inherited in an autosomal dominant manner. Treatment may depend on severity of symptoms and may include medications, surgical procedures, and/or an implantable cardioverter-defibrillator (ICD).", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) juvenile myoclonic epilepsy ?"}, {"role": "assistant", "content": "Juvenile myoclonic epilepsy is a condition characterized by recurrent seizures (epilepsy). This condition begins in childhood or adolescence, usually between ages 12 and 18, and lasts into adulthood. The most common type of seizure in people with this condition is myoclonic seizures, which cause rapid, uncontrolled muscle jerks. People with this condition may also have generalized tonic-clonic seizures (also known as grand mal seizures), which cause muscle rigidity, convulsions, and loss of consciousness. Sometimes, affected individuals have absence seizures, which cause loss of consciousness for a short period that appears as a staring spell. Typically, people with juvenile myoclonic epilepsy develop the characteristic myoclonic seizures in adolescence, then develop generalized tonic-clonic seizures a few years later. Although seizures can happen at any time, they occur most commonly in the morning, shortly after awakening. Seizures can be triggered by a lack of sleep, extreme tiredness, stress, or alcohol consumption.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Hypochromic microcytic anemia with iron overload ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Hypochromic microcytic anemia with iron overload? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypochromic microcytic anemia with iron overload. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis - Abnormality of the liver - Anemia - Autosomal recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Who is at risk for Pyelonephritis: Kidney Infection? ?"}, {"role": "assistant", "content": "People most at risk for pyelonephritis are those who have a bladder infection and those with a structural, or anatomic, problem in the urinary tract. Urine normally flows only in one directionfrom the kidneys to the bladder. However, the flow of urine may be blocked in people with a structural defect of the urinary tract, a kidney stone, or an enlarged prostatethe walnut-shaped gland in men that surrounds the urethra at the neck of the bladder and supplies fluid that goes into semen. Urine can also back up, or reflux, into one or both kidneys. This problem, which is called vesicoureteral reflux (VUR), happens when the valve mechanism that normally prevents backward flow of urine is not working properly. VUR is most commonly diagnosed during childhood. Pregnant women and people with diabetes or a weakened immune system are also at increased risk of pyelonephritis.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Horner syndrome ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of Horner syndrome: - Genetic Testing Registry: Horner syndrome, congenital These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Do you have information about Tonsils and Adenoids"}, {"role": "assistant", "content": "Summary : Your tonsils and adenoids are part of your lymphatic system. Your tonsils are in the back of your throat. Your adenoids are higher up, behind your nose. Both help protect you from infection by trapping germs coming in through your mouth and nose. Sometimes your tonsils and adenoids become infected. Tonsillitis makes your tonsils sore and swollen and causes a sore throat. Enlarged adenoids can be sore, make it hard to breathe and cause ear problems. The first treatment for infected tonsils and adenoids is antibiotics. If you have frequent infections or trouble breathing, you may need surgery. Surgery to remove the tonsils is tonsillectomy. Surgery to remove adenoids is adenoidectomy.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Osteogenesis Imperfecta ?"}, {"role": "assistant", "content": "Osteogenesis imperfecta (OI) is a genetic disorder in which bones break easily. Sometimes the bones break for no known reason. OI can also cause weak muscles, brittle teeth, a curved spine, and hearing loss. OI is caused by one of several genes that aren't working properly. When these genes don't work, it affects how you make collagen, a protein that helps make bones strong. OI can range from mild to severe, and symptoms vary from person to person. A person may have just a few or as many as several hundred fractures in a lifetime. No single test can identify OI. Your doctor uses your medical and family history, physical exam, and imaging and lab tests to diagnose it. Your doctor may also test your collagen (from skin) or genes (from blood). There is no cure, but you can manage symptoms. Treatments include exercise, pain medicine, physical therapy, wheelchairs, braces, and surgery. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Who is at risk for Prolactinoma? ?"}, {"role": "assistant", "content": "Women whose ovaries produce inadequate estrogen are at increased risk for osteoporosis. Hyperprolactinemia can reduce estrogen production. Although estrogen production may be restored after treatment for hyperprolactinemia, even a year or 2 without estrogen can compromise bone strength. Women should protect themselves from osteoporosis by increasing exercise and calcium intake through diet or supplements and by not smoking. Women treated for hyperprolactinemia may want to have periodic bone density measurements and discuss estrogen replacement therapy or other bone-strengthening medications with their doctor.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Giant platelet syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Giant platelet syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Giant platelet syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal bleeding - Abnormality of the abdomen - Autosomal recessive inheritance - Epistaxis - Increased mean platelet volume - Menorrhagia - Prolonged bleeding time - Purpura - Thrombocytopenia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by lacrimo-auriculo-dento-digital syndrome ?"}, {"role": "assistant", "content": "LADD syndrome appears to be a rare condition; at least 60 cases have been described in the scientific literature.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Mitochondrial complex II deficiency ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Mitochondrial complex II deficiency? The signs and symptoms of mitochondrial complex II deficiency can vary greatly from severe life-threatening symptoms in infancy to muscle disease beginning in adulthood. Many factors affect symptom and symptom severity, including what gene mutation is involved. Many genes must work together to ensure that the enzyme, complex II (succinate dehydrogenase), can perform its job normally in the body. Changes in the SDHA, SDHB, SDHC, SDHD, SDHAF1, or SDHAF2 genes can all potentially cause complex II deficiency. Much of what we know today about the signs and symptoms of complex II deficiency are based on articles which describe individual patients. Due to the rarity of this condition and the complexity of its cause, it is very difficult to predict how a person will be affected. We strongly recommend that you work with your or your childs healthcare provider to learn more about how the deficiency is affecting your or your childs health. In the meantime, we have summarized symptoms of complex II deficiency which have been described in case reports: Inheriting two SDHA gene mutations has caused myoclonic seizures and Leighs syndrome. Leigh syndrome is a severe neurological disorder that typically arises in the first year of life. This condition is characterized by progressive loss of mental and movement abilities (psychomotor regression) and typically results in death within a couple of years, usually due to respiratory failure. A small number of people develop symptoms in adulthood or have symptoms that worsen more slowly. The first signs of Leigh syndrome seen in infancy are usually vomiting, diarrhea, and difficulty swallowing (dysphagia) that leads to eating problems. Click here to visit Genetics Home Reference and learn more about Leigh syndrome. Inheriting two SDHB gene mutations can cause leukodystrophy. Leukodystrophies affect the myelin sheath, the material that surrounds and protects nerve cells. Damage to this sheath slows down or blocks messages between the brain and the rest of the body. This leads to problems with movement, speaking, vision, hearing, and mental and physical development. Most of the leukodystrophies appear during infancy or childhood. They can be hard to detect early because children seem healthy at first. However, symptoms gradually get worse over time. Click here to visit MedlinePlus.gov and learn more about leukodystprohy. Inheriting two SDHAF1 gene mutations can cause severe progressive leukoencephalopathy beginning in infancy. Leukoencephalopathy refers to the degeneration of the white matter of the brain. It is usually diagnosed by MRI. It causes cognitive impairment, increased muscle tone, and hyperactive reflexes. Inheriting two SDHD gene mutations can cause progressive loss of mental and movement abilities (psychomotor retardation), and seizures. Signs and symptoms may begin in infancy and progress through childhood. Complex II deficiency has also been described in association with dilated cardiomyopathy (and heart failure in childhood), hemolytic uremic syndrome and rhabdomyolysis, congenital dislocation of the hip joint, progressive encephalomyopathy (a disorder affecting the brain and skeletal muscle, usually causing weakness) with dementia, and KearnsSayre syndrome. Case reports have also demonstrated that people who have only a single mutation in one of these genes may also be at risk for health problems: Having one SDHA gene mutation caused optic atrophy, ataxia, proximal myopathy in adulthood. Having one mutation in the SDHA, SDHB, SDHC, SDHAF2, or SDHD gene can cause an increased risk for paragangliomas and/or pheochromocytomas. The Human Phenotype Ontology provides the following list of signs and symptoms for Mitochondrial complex II deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal mitochondria in muscle tissue - Ataxia - Autosomal recessive inheritance - Babinski sign - Cognitive impairment - Decreased activity of mitochondrial complex II - Developmental regression - Dilated cardiomyopathy - Dystonia - Exercise intolerance - Flexion contracture - Hyperreflexia - Hypertrophic cardiomyopathy - Increased intramyocellular lipid droplets - Increased serum lactate - Infantile onset - Leukoencephalopathy - Muscle weakness - Myoclonus - Neonatal hypotonia - Nystagmus - Ophthalmoplegia - Optic atrophy - Phenotypic variability - Pigmentary retinopathy - Progressive leukoencephalopathy - Ptosis - Ragged-red muscle fibers - Seizures - Short stature - Spasticity - Stress/infection-induced lactic acidosis - Visual impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Rheumatoid Arthritis ?"}, {"role": "assistant", "content": "There is no single, definitive test for rheumatoid arthritis. Common tests for rheumatoid arthritis include - The rheumatoid factor test. Rheumatoid factor is an antibody that is present eventually in the blood of most people with rheumatoid arthritis. However, not all people with rheumatoid arthritis test positive for rheumatoid factor, especially early in the disease. Also, some people who do test positive never develop the disease. The rheumatoid factor test. Rheumatoid factor is an antibody that is present eventually in the blood of most people with rheumatoid arthritis. However, not all people with rheumatoid arthritis test positive for rheumatoid factor, especially early in the disease. Also, some people who do test positive never develop the disease. - The citrulline antibody test. This blood test detects antibodies to cyclic citrullinated peptide (anti-CCP). This test is positive in most people with rheumatoid arthritis and can even be positive years before rheumatoid arthritis symptoms develop. When used with the rheumatoid factor test, the citrulline antibody test results are very useful in confirming a rheumatoid arthritis diagnosis. The citrulline antibody test. This blood test detects antibodies to cyclic citrullinated peptide (anti-CCP). This test is positive in most people with rheumatoid arthritis and can even be positive years before rheumatoid arthritis symptoms develop. When used with the rheumatoid factor test, the citrulline antibody test results are very useful in confirming a rheumatoid arthritis diagnosis. Other common tests for rheumatoid arthritis include - the erythrocyte sedimentation rate, which indicates the presence of inflammation in the body - a test for white blood cell count - a blood test for anemia. the erythrocyte sedimentation rate, which indicates the presence of inflammation in the body a test for white blood cell count a blood test for anemia. X-rays are often used to determine the degree of joint destruction. They are not useful in the early stages of rheumatoid arthritis before bone damage is evident, but they can be used later to monitor the progression of the disease. Learn more about how rheumatoid arthritis is diagnosed.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is tubular aggregate myopathy inherited ?"}, {"role": "assistant", "content": "Most cases of tubular aggregate myopathy, including those caused by STIM1 gene mutations, are inherited in an autosomal dominant pattern. Autosomal dominant inheritance means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, the mutation is passed through generations in a family. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family. Rarely, tubular aggregate myopathy is inherited in an autosomal recessive pattern, which means both copies of a gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Researchers are still working to determine which gene or genes are associated with autosomal recessive tubular aggregate myopathy.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Myoepithelial carcinoma ?"}, {"role": "assistant", "content": "How might myoepithelial carcinoma be treated? The treatment for metastatic myoepithelial carcinoma usually begins with surgery to remove the main tumor. Radiation therapy can be used to reduce the chance that the tumor could return in the same location. Recent studies have shown that neutron-based radiation therapy may be more effective than proton-based radiation therapy for treating myoepithelial cancers. There is limited evidence about the usefulness of chemotherapy in treating metastatic myoepithelial cancer, and there are no standard treatment guidelines. However, there are three reports of individuals with metastatic myoepithelial cancer who responded to chemotherapy. In one individual, the metastatic tumors stopped growing during chemotherapy. In the other two individuals, there was no evidence of the metastatic tumors after 14 months for one person and after three years for the other person.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to fucosidosis ?"}, {"role": "assistant", "content": "Mutations in the FUCA1 gene cause fucosidosis. The FUCA1 gene provides instructions for making an enzyme called alpha-L-fucosidase. This enzyme plays a role in the breakdown of complexes of sugar molecules (oligosaccharides) attached to certain proteins (glycoproteins) and fats (glycolipids). Alpha-L-fucosidase is responsible for cutting (cleaving) off a sugar molecule called fucose toward the end of the breakdown process. FUCA1 gene mutations severely reduce or eliminate the activity of the alpha-L-fucosidase enzyme. A lack of enzyme activity results in an incomplete breakdown of glycolipids and glycoproteins. These partially broken down compounds gradually accumulate within various cells and tissues throughout the body and cause cells to malfunction. Brain cells are particularly sensitive to the buildup of glycolipids and glycoproteins, which can result in cell death. Loss of brain cells is thought to cause the neurological symptoms of fucosidosis. Accumulation of glycolipids and glycoproteins also occurs in other organs such as the liver, spleen, skin, heart, pancreas, and kidneys, contributing to the additional symptoms of fucosidosis.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Dry Eye ?"}, {"role": "assistant", "content": "National Eye Institute National Institutes of Health 2020 Vision Place Bethesda, MD 20892-3655 301-496-5248 E-mail: 2020@nei.nih.gov www.nei.nih.gov", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Human T-cell leukemia virus type 1 ?"}, {"role": "assistant", "content": "What are the signs and symptoms of human T-cell leukemia virus, type 1? Human T-cell leukemia virus, type 1 (HTLV-1) generally causes no signs or symptoms. However, some affected people may later develop adult T-cell leukemia (ATL), HTLV-1 associated myelopathy/tropical spastic paraparesis (HAM/TSP) or other medical conditions. Approximately 2-5% of people with HTLV-1 will develop ATL, a cancer of the T-cells (a type of white blood cell). The signs and symptoms of this condition and the disease progression vary from person to person. Affected people may have the following features: Fatigue Lymphadenopathy (swollen lymph nodes) Thirst Nausea and vomiting Fever Skin and bone abnormalities Enlarged liver and/or spleen Frequent infections Roughly .25-2% of people with HTLV-1 will develop HAM/TSP, a chronic, progressive disease of the nervous system. Signs and symptoms of this condition vary but may include: Progressive weakness Stiff muscles Muscle spasms Backache 'Weak' bladder Constipation", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What to do for Renal Tubular Acidosis ?"}, {"role": "assistant", "content": "- Renal tubular acidosis (RTA) is a disease that occurs when the kidneys fail to excrete acids into the urine, which causes a person's blood to remain too acidic. - Without proper treatment, chronic acidity of the blood leads to growth retardation, kidney stones, bone disease, chronic kidney disease, and possibly total kidney failure. - If RTA is suspected, additional information about the sodium, potassium, and chloride levels in the urine and the potassium level in the blood will help identify which type of RTA a person has. - In all cases, the first goal of therapy is to neutralize acid in the blood, but different treatments may be needed to address the different underlying causes of acidosis.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Infantile Spasms ?"}, {"role": "assistant", "content": "An infantile spasm (IS) is a specific type of seizure seen in an epilepsy syndrome of infancy and childhood known as West Syndrome. West Syndrome is characterized by infantile spasms, developmental regression, and a specific pattern on electroencephalography (EEG) testing called hypsarrhythmia (chaotic brain waves). The onset of infantile spasms is usually in the first year of life, typically between 4-8 months. The seizures primarily consist of a sudden bending forward of the body with stiffening of the arms and legs; some children arch their backs as they extend their arms and legs. Spasms tend to occur upon awakening or after feeding, and often occur in clusters of up to 100 spasms at a time. Infants may have dozens of clusters and several hundred spasms per day. Infantile spasms usually stop by age five, but may be replaced by other seizure types. Many underlying disorders, such as birth injury, metabolic disorders, and genetic disorders can give rise to spasms, making it important to identify the underlying cause. In some children, no cause can be found.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Peutz-Jeghers syndrome ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of Peutz-Jeghers syndrome: - Gene Review: Gene Review: Peutz-Jeghers Syndrome - Genetic Testing Registry: Peutz-Jeghers syndrome - MedlinePlus Encyclopedia: Peutz-Jeghers Syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Muir-Torre syndrome ?"}, {"role": "assistant", "content": "How is Muir-Torre syndrome diagnosed? A person is suspected to have Muir-Torre syndrome (MTS)if he/she has one or more of the following: History of one or more sebaceous tumors Age younger than 60 years at first presentation of sebaceous tumors Personal history of Lynch-related cancers Family history of Lynch-related cancers The presence of specific skin tumors in MTS may lead to the correct diagnosis even in the absence of a clear family history. A person diagnosed with MTS can also have genetic testing to see if they have a mutation in one of the genes known to cause MTS. However, not everyone with Muir-Torre syndrome will have a detectable mutation in one of these genes. Other, unidentified genes may also play a role in the development of the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to juvenile primary lateral sclerosis ?"}, {"role": "assistant", "content": "Mutations in the ALS2 gene cause most cases of juvenile primary lateral sclerosis. This gene provides instructions for making a protein called alsin. Alsin is abundant in motor neurons, but its function is not fully understood. Mutations in the ALS2 gene alter the instructions for producing alsin. As a result, alsin is unstable and is quickly broken down, or it cannot function properly. It is unclear how the loss of functional alsin protein damages motor neurons and causes juvenile primary lateral sclerosis.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Chorea-acanthocytosis inherited ?"}, {"role": "assistant", "content": "How do people inherit chorea-acanthocytosis? Chorea-acanthocytosis is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) PPM-X syndrome ?"}, {"role": "assistant", "content": "PPM-X syndrome is a condition characterized by psychotic disorders (most commonly bipolar disorder), a pattern of movement abnormalities known as parkinsonism, and mild to severe intellectual disability. Other symptoms include increased muscle tone and exaggerated reflexes. Affected males may have enlarged testes (macro-orchidism). Not all affected individuals have all these symptoms, but most have intellectual disability. Males with this condition are typically more severely affected than females, who usually have only mild intellectual disability.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for cutis laxa ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of cutis laxa: - Gene Review: Gene Review: ATP6V0A2-Related Cutis Laxa - Gene Review: Gene Review: ATP7A-Related Copper Transport Disorders - Gene Review: Gene Review: EFEMP2-Related Cutis Laxa - Gene Review: Gene Review: FBLN5-Related Cutis Laxa - Genetic Testing Registry: Autosomal recessive cutis laxa type IA - Genetic Testing Registry: Cutis laxa with osteodystrophy - Genetic Testing Registry: Cutis laxa, X-linked - Genetic Testing Registry: Cutis laxa, autosomal dominant - MedlinePlus Encyclopedia: Colon Diverticula (image) - MedlinePlus Encyclopedia: Emphysema (image) - MedlinePlus Encyclopedia: Hernia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Hypochondroplasia ?"}, {"role": "assistant", "content": "Hypochondroplasia is a form dwarfism that affects the conversion of cartilage into bone, particularly in the long bones of the arms and legs. Hypochondroplasia is similar to achondroplasia, but the features tend to be milder. People with this condtion usually have short arms and legs and broad, short hands and feet. Other features include a large head, limited range of motion in the elbows, lordosis, and bowed legs. Hypochondroplasia is caused by mutations in the FGFR3 gene and is inherited in an autosomal dominant fashion.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Who is at risk for Parasites - Echinococcosis? ?"}, {"role": "assistant", "content": "Cystic echinococcosis (CE) is caused by infection with the larval stage of Echinococcus granulosus. CE is found in Africa, Europe, Asia, the Middle East, Central and South America, and in rare cases, North America. The parasite is transmitted to dogs when they ingest the organs of other animals that contain hydatid cysts. The cysts develop into adult tapeworms in the dog. Infected dogs shed tapeworm eggs in their feces which contaminate the ground. Sheep, cattle, goats, and pigs ingest tapeworm eggs in the contaminated ground; once ingested, the eggs hatch and develop into cysts in the internal organs. The most common mode of transmission to humans is by the accidental consumption of soil, water, or food that has been contaminated by the fecal matter of an infected dog. Echinococcus eggs that have been deposited in soil can stay viable for up to a year. The disease is most commonly found in people involved in raising sheep, as a result of the sheep's role as an intermediate host of the parasite and the presence of working dogs that are allowed to eat the offal of infected sheep.\n \nAlveolar echinococcosis (AE) is caused by infection with the larval stage of Echinococcus multilocularis. AE is found across the globe and is especially prevalent in the northern latitudes of Europe, Asia, and North America. The adult tapeworm is normally found in foxes, coyotes, and dogs. Infection with the larval stages is transmitted to people through ingestion of food or water contaminated with tapeworm eggs.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "what research (or clinical trials) is being done for Spinal Cord Infarction ?"}, {"role": "assistant", "content": "NINDS conducts and supports research on disorders of the spinal cord such as spinal cord infarction, aimed at learning more about these disorders and finding ways to prevent and treat them.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Hypokalemic periodic paralysis ?"}, {"role": "assistant", "content": "How is hypokalemic periodic paralysis diagnosed? The diagnosis of hypokalemic periodic paralysis is based on a history of episodes of paralysis and low levels of potassium in the blood during attacks (less than 0.9 to 3.0 mmol/L), but not between attacks. An important part of the diagnosis is to rule out other potential causes, including myotonia, hyperthyroidism, and arrhythmia. Affected individuals typically have a family history consistent with autosomal dominant inheritance. Genetic testing is available for hypokalemic periodic paralysis. Of all individuals meeting diagnostic criteria for this condition, approximately 55 to 70 percent have mutations in the CACNA1S gene, and approximately 8 to 10 percent have mutations in the SCN4A gene. GeneTests lists the names of laboratories that perform clinical genetic testing of the CACNA1S and SCN4A genes for hypokalemic periodic paralysis. When a disease-causing mutation is identified in an affected individual, genetic testing can be performed for at-risk, asymptomatic family members. Please note: Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional. See below for a list of online resources that can assist you in locating a genetics professional near you.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Blue cone monochromatism ?"}, {"role": "assistant", "content": "Blue cone monochromatism is an inherited X-linked vision disorder. In this condition both red and green cone sensitivities are absent, however rod function and blue cone sensitivities are present. Signs and symptoms include severely reduced visual acuity (clearnes), eccentric fixation, infantile nystagmus that decreases with age, no obvious retinal abnormalities, and poor or no color discrimination.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by juvenile hyaline fibromatosis ?"}, {"role": "assistant", "content": "The prevalence of juvenile hyaline fibromatosis is unknown. About 70 people with this disorder have been reported.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by Prostate Enlargement: Benign Prostatic Hyperplasia ?"}, {"role": "assistant", "content": "Benign prostatic hyperplasia is the most common prostate problem for men older than age 50. In 2010, as many as 14 million men in the United States had lower urinary tract symptoms suggestive of benign prostatic hyperplasia.1 Although benign prostatic hyperplasia rarely causes symptoms before age 40, the occurrence and symptoms increase with age. Benign prostatic hyperplasia affects about 50 percent of men between the ages of 51 and 60 and up to 90 percent of men older than 80.2", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is the outlook for Brown-Sequard Syndrome ?"}, {"role": "assistant", "content": "The prognosis for individuals with BSS varies depending on the cause of the disorder.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Buschke Ollendorff syndrome ?"}, {"role": "assistant", "content": "Is genetic testing available for Buschke Ollendorff syndrome? Yes. GeneTests lists the names of laboratories that are performing genetic testing for Buschke Ollendorff syndrome. To view the contact information for the clinical laboratories conducting testing, click here. Please note: Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Abetalipoproteinemia ?"}, {"role": "assistant", "content": "Abetalipoproteinemia is a condition characterized by the inability to fully absorb dietary fats, cholesterol and fat-soluble vitamins. Signs and symptoms appear in the first few months of life and can include failure to thrive; diarrhea; acanthocytosis; and stool abnormalities. Other features develop later in childhood and often impair the function of the nervous system, potentially causing slower intellectual development; poor muscle coordination; progressive ataxia; and an eye disorder called retinitis pigmentosa. Most of the symptoms are due to defects in the absorption and transport of vitamin E. Abetalipoproteinemia is caused by mutations in the MTTP gene and is inherited in an autosomal recessive manner. Early diagnosis, high-dose vitamin E therapy, and medium-chain fatty acid supplements may slow the progression of the nervous system abnormalities. Long-term outlook is reasonably good for most affected people who are diagnosed early. If left untreated, the condition can result in early death.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) distal myopathy 2 ?"}, {"role": "assistant", "content": "Distal myopathy 2 is a condition characterized by weakness of specific muscles that begins in adulthood. It is a form of muscular dystrophy that specifically involves muscles in the throat, lower legs, and forearms. Muscles farther from the center of the body, like the muscles of the lower legs and forearms, are known as distal muscles. Muscle weakness in the ankles is usually the first symptom of distal myopathy 2. The weakness can also affect muscles in the hands, wrists, and shoulders. At first, the muscle weakness may be on only one side of the body, but both sides are eventually involved. This muscle weakness can slowly worsen and make actions like walking and lifting the fingers difficult. Another characteristic feature of distal myopathy 2 is weakness of the vocal cords and throat. This weakness initially causes the voice to sound weak or breathy (hypophonic). Eventually, the voice becomes gurgling, hoarse, and nasal. The weakness can also cause difficulty swallowing (dysphagia).", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by myasthenia gravis ?"}, {"role": "assistant", "content": "Myasthenia gravis affects about 20 per 100,000 people worldwide. The prevalence has been increasing in recent decades, which likely results from earlier diagnosis and better treatments leading to longer lifespans for affected individuals.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Childhood Extracranial Germ Cell Tumors ?"}, {"role": "assistant", "content": "The cause of most childhood extracranial germ cell tumors is unknown.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Bronchitis ?"}, {"role": "assistant", "content": "Espaol\n \nBronchitis (bron-KI-tis) is a condition in which the bronchial tubes become inflamed. These tubes carry air to your lungs. (For more information about the bronchial tubes and airways, go to the Diseases and Conditions Index How the Lungs Work article.)\n \nPeople who have bronchitis often have a cough that brings up mucus. Mucus is a slimy substance made by the lining of the bronchial tubes. Bronchitis also may cause wheezing (a whistling or squeaky sound when you breathe), chest pain or discomfort, a low fever, and shortness of breath.\n \nBronchitis\n \n\n \nOverview\n \nThe two main types of bronchitis are acute (short term) and chronic (ongoing).\n \nAcute Bronchitis\n \nInfections or lung irritants cause acute bronchitis. The same viruses that cause colds and the flu are the most common cause of acute bronchitis. These viruses are spread through the air when people cough. They also are spread through physical contact (for example, on hands that have not been washed).\n \nSometimes bacteria cause acute bronchitis.\n \nAcute bronchitis lasts from a few days to 10 days. However, coughing may last for several weeks after the infection is gone.\n \nSeveral factors increase your risk for acute bronchitis. Examples include exposure to tobacco smoke (including secondhand smoke), dust, fumes, vapors, and air pollution. Avoiding these lung irritants as much as possible can help lower your risk for acute bronchitis.\n \nMost cases of acute bronchitis go away within a few days. If you think you have acute bronchitis, see your doctor. He or she will want to rule out other, more serious health conditions that require medical care.\n \nChronic Bronchitis\n \nChronic bronchitis is an ongoing, serious condition. It occurs if the lining of the bronchial tubes is constantly irritated and inflamed, causing a long-term cough with mucus. Smoking is the main cause of chronic bronchitis.\n \nViruses or bacteria can easily infect the irritated bronchial tubes. If this happens, the condition worsens and lasts longer. As a result, people who have chronic bronchitis have periods when symptoms get much worse than usual.\n \nChronic bronchitis is a serious, long-term medical condition. Early diagnosis and treatment, combined with quitting smoking and avoiding secondhand smoke, can improve quality of life. The chance of complete recovery is low for people who have severe chronic bronchitis.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by neutral lipid storage disease with myopathy ?"}, {"role": "assistant", "content": "Neutral lipid storage disease with myopathy is a rare condition; its incidence is unknown.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for phosphoglycerate mutase deficiency ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of phosphoglycerate mutase deficiency: - Genetic Testing Registry: Glycogen storage disease type X These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to prevent Diarrhea ?"}, {"role": "assistant", "content": "Two types of diarrhea can be preventedrotavirus diarrhea and travelers diarrhea.\n \nRotavirus Diarrhea\n \nTwo oral vaccines have been approved by the U.S. Food and Drug Administration to protect children from rotavirus infections: rotavirus vaccine, live, oral, pentavalent (RotaTeq); and rotavirus vaccine, live, oral (Rotarix). RotaTeq is given to infants in three doses at 2, 4, and 6 months of age. Rotarix is given in two doses. The first dose is given when infants are 6 weeks old, and the second is given at least 4 weeks later but before infants are 24 weeks old.\n \nParents of infants should discuss rotavirus vaccination with a health care provider. For more information, parents can visit the Centers for Disease Control and Prevention rotavirus vaccination webpage at www.cdc.gov/vaccines/vpd-vac/rotavirus.\n \nTravelers Diarrhea\n \nTo prevent travelers diarrhea, people traveling from the United States to developing countries should avoid\n \n- drinking tap water, using tap water to brush their teeth, or using ice made from tap water - drinking unpasteurized milk or milk products - eating raw fruits and vegetables, including lettuce and fruit salads, unless they peel the fruits or vegetables themselves - eating raw or rare meat and fish - eating meat or shellfish that is not hot when served - eating food from street vendors\n \nTravelers can drink bottled water, soft drinks, and hot drinks such as coffee or tea.\n \nPeople concerned about travelers diarrhea should talk with a health care provider before traveling. The health care provider may recommend that travelers bring medicine with them in case they develop diarrhea during their trip. Health care providers may advise some peopleespecially people with weakened immune systemsto take antibiotics before and during a trip to help prevent travelers diarrhea. Early treatment with antibiotics can shorten a bout of travelers diarrhea.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for familial osteochondritis dissecans ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of familial osteochondritis dissecans: - Cedars-Sinai - Genetic Testing Registry: Osteochondritis dissecans - Seattle Children's: Osteochondritis Dissecans Symptoms and Diagnosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Congenital deafness with vitiligo and achalasia ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Congenital deafness with vitiligo and achalasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital deafness with vitiligo and achalasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) EEG abnormality 90% Hypopigmented skin patches 90% Sensorineural hearing impairment 90% Short stature 90% Skeletal muscle atrophy 90% Achalasia - Autosomal recessive inheritance - Hearing impairment - Vitiligo - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Cramp-fasciculation syndrome ?"}, {"role": "assistant", "content": "What causes cramp-fasciculation syndrome? In many cases, the exact underlying cause of cramp-fasciculation syndrome (CFS) is unknown (idiopathic). In general, it is thought to be related to abnormal excitability (overactivity) of peripheral neurons. Some cases of CFS are associated with: Genetic disorders Autoimmune conditions Peripheral neuropathy Anterior-horn-cell disease Metabolic abnormalities", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Who is at risk for Lujo Hemorrhagic Fever (LUHF)? ?"}, {"role": "assistant", "content": "Lujo hemorrhagic fever (LUHF) occurs in southern Africa. The initial case was certainly infected in Zambia. \n Field workers \n \nField workers are at greatest risk because of increased human contact with the reservoir rodent population. Sexual partners of field workers may be at greater risk as well. In addition to nosocomial infection in healthcare workers already described, laboratory infections have been frequently described with Arenaviruses and Lujo virus can certainly be transmitted to laboratory workers during manipulation of the virus, especially during experimental infections of rodents.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for X-linked intellectual disability, Siderius type ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of X-linked intellectual disability, Siderius type: - Cincinnati Children's Hospital: Cleft Lip / Cleft Palate Bottle Feeding - Cleveland Clinic: Cleft Lip & Palate Surgery - Genetic Testing Registry: Siderius X-linked mental retardation syndrome - Nemours Children's Health System: Cleft Lip and Palate These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is trichohepatoenteric syndrome inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is the outlook for Multifocal Motor Neuropathy ?"}, {"role": "assistant", "content": "Improvement in muscle strength usually begins within 3 to 6 weeks after treatment is started. Most patients who receive treatment early experience little, if any, disability. However, there is evidence of slow progression over many years.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Mobility Aids ?"}, {"role": "assistant", "content": "Mobility aids help you walk or move from place to place if you are disabled or have an injury. They include - Crutches - Canes - Walkers - Wheelchairs - Motorized scooters You may need a walker or cane if you are at risk of falling. If you need to keep your body weight off your foot, ankle or knee, you may need crutches. You may need a wheelchair or a scooter if an injury or disease has left you unable to walk. Choosing these devices takes time and research. You should be fitted for crutches, canes and walkers. If they fit, these devices give you support, but if they don't fit, they can be uncomfortable and unsafe.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Erythroderma lethal congenital ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Erythroderma lethal congenital? The Human Phenotype Ontology provides the following list of signs and symptoms for Erythroderma lethal congenital. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Dry skin 90% Ichthyosis 90% Malabsorption 90% Respiratory insufficiency 90% Urticaria 90% Autosomal recessive inheritance - Congenital exfoliative erythroderma - Death in infancy - Failure to thrive - Hypoalbuminemia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Buschke-Ollendorff syndrome inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In many cases, an affected person has a parent and other family members with the condition. While most people with Buschke-Ollendorff syndrome have both connective tissue nevi and osteopoikilosis, some affected families include individuals who have the skin abnormalities alone or the bone abnormalities alone. When osteopoikilosis occurs without connective tissue nevi, the condition is often called isolated osteopoikilosis.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Familial pemphigus vulgaris ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Familial pemphigus vulgaris? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial pemphigus vulgaris. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Acantholysis 90% Atypical scarring of skin 90% Feeding difficulties in infancy 90% Recurrent cutaneous abscess formation 90% Urticaria 90% Weight loss 90% Autoimmune antibody positivity - Autosomal dominant inheritance - Oral mucosal blisters - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Multiple System Atrophy ?"}, {"role": "assistant", "content": "There is no cure for MSA. Currently, there are no treatments to delay the progress of neurodegeneration in the brain. But there are treatments available to help people cope with some of the more disabling symptoms of MSA. In some individuals, levodopa may improve motor function, but the benefit may not continue as the disease progresses.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by spondyloepiphyseal dysplasia congenita ?"}, {"role": "assistant", "content": "This condition is rare; the exact incidence is unknown. More than 175 cases have been reported in the scientific literature.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) progressive supranuclear palsy ?"}, {"role": "assistant", "content": "Progressive supranuclear palsy is a brain disorder that affects movement, vision, speech, and thinking ability (cognition). The signs and symptoms of this disorder usually become apparent in mid- to late adulthood, most often in a person's 60s. Most people with progressive supranuclear palsy survive 5 to 9 years after the disease first appears, although a few affected individuals have lived for more than a decade. Loss of balance and frequent falls are the most common early signs of progressive supranuclear palsy. Affected individuals have problems with walking, including poor coordination and an unsteady, lurching gait. Other movement abnormalities develop as the disease progresses, including unusually slow movements (bradykinesia), clumsiness, and stiffness of the trunk muscles. These problems worsen with time, and most affected people ultimately require wheelchair assistance. Progressive supranuclear palsy is also characterized by abnormal eye movements, which typically develop several years after the other movement problems first appear. Restricted up-and-down eye movement (vertical gaze palsy) is a hallmark of this disease. Other eye movement problems include difficulty opening and closing the eyelids, infrequent blinking, and pulling back (retraction) of the eyelids. These abnormalities can lead to blurred vision, an increased sensitivity to light (photophobia), and a staring gaze. Additional features of progressive supranuclear palsy include slow and slurred speech (dysarthria) and trouble swallowing (dysphagia). Most affected individuals also experience changes in personality and behavior, such as a general loss of interest and enthusiasm (apathy). They develop problems with cognition, including difficulties with attention, planning, and problem solving. As the cognitive and behavioral problems worsen, affected individuals increasingly require help with personal care and other activities of daily living.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Primary Biliary Cirrhosis ?"}, {"role": "assistant", "content": "Primary biliary cirrhosis is a chronic, or long lasting, disease that causes the small bile ducts in the liver to become inflamed and damaged and ultimately disappear.\n \nThe bile ducts carry a fluid called bile from the liver to the gallbladder, where it is stored. When food enters the stomach after a meal, the gallbladder contracts, and the bile ducts carry bile to the duodenum, the first part of the small intestine, for use in digestion. The liver makes bile, which is made up of bile acids, cholesterol, fats, and fluids. Bile helps the body absorb fats, cholesterol, and fat-soluble vitamins. Bile also carries cholesterol, toxins, and waste products to the intestines, where the body removes them. When chronic inflammation, or swelling, damages the bile ducts, bile and toxic wastes build up in the liver, damaging liver tissue.\n \nThis damage to the liver tissue can lead to cirrhosis, a condition in which the liver slowly deteriorates and is unable to function normally. In cirrhosis, scar tissue replaces healthy liver tissue, partially blocking the flow of blood through the liver.\n \nThe liver is the bodys largest internal organ. The liver is called the bodys metabolic factory because of the important role it plays in metabolismthe way cells change food into energy after food is digested and absorbed into the blood. The liver has many functions, including\n \n- taking up, storing, and processing nutrients from foodincluding fat, sugar, and proteinand delivering them to the rest of the body when needed - making new proteins, such as clotting factors and immune factors - producing bile - removing waste products the kidneys cannot remove, such as fats, cholesterol, toxins, and medications\n \nA healthy liver is necessary for survival. The liver can regenerate most of its own cells when they become damaged. However, if injury to the liver is too severe or long lasting, regeneration is incomplete, and the liver creates scar tissue. Scarring of the liver may lead to cirrhosis.\n \nThe buildup of scar tissue that causes cirrhosis is usually a slow and gradual process. In the early stages of cirrhosis, the liver continues to function. However, as cirrhosis gets worse and scar tissue replaces more healthy tissue, the liver will begin to fail. Chronic liver failure, which is also called end-stage liver disease, progresses over months, years, or even decades. With end-stage liver disease, the liver can no longer perform important functions or effectively replace damaged cells.\n \nPrimary biliary cirrhosis usually occurs between the ages of 30 and 65 and affects women more often than men.1", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Spinocerebellar ataxia 14 ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Spinocerebellar ataxia 14? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 14. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Attention deficit hyperactivity disorder - Autosomal dominant inheritance - Cerebellar atrophy - Depression - Dysarthria - Dysmetria - Dysphagia - Facial myokymia - Focal dystonia - Gait ataxia - Hyperreflexia - Impaired vibration sensation at ankles - Incomplete penetrance - Memory impairment - Mental deterioration - Nystagmus - Progressive cerebellar ataxia - Slow progression - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by hyperkalemic periodic paralysis ?"}, {"role": "assistant", "content": "Hyperkalemic periodic paralysis affects an estimated 1 in 200,000 people.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of WAGR syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of WAGR syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for WAGR syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aniridia 90% Aplasia/Hypoplasia of the iris 90% Cognitive impairment 90% Cataract 50% Cryptorchidism 50% Displacement of the external urethral meatus 50% Hearing abnormality 50% Hypospadias 50% Intellectual disability 50% Microcephaly 50% Nephroblastoma (Wilms tumor) 50% Nystagmus 50% Ptosis 50% Short stature 50% Visual impairment 50% Nephropathy 40% Abnormality of the vagina 33% Streak ovary 33% Abnormality of the uterus 7.5% Glaucoma 7.5% Gonadoblastoma 7.5% Hernia of the abdominal wall 7.5% Obesity 7.5% Scoliosis 7.5% Renal insufficiency 10/46 Autosomal dominant inheritance - Contiguous gene syndrome - Somatic mutation - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) keratoderma with woolly hair ?"}, {"role": "assistant", "content": "Keratoderma with woolly hair is a group of related conditions that affect the skin and hair and in many cases increase the risk of potentially life-threatening heart problems. People with these conditions have hair that is unusually coarse, dry, fine, and tightly curled. In some cases, the hair is also sparse. The woolly hair texture typically affects only scalp hair and is present from birth. Starting early in life, affected individuals also develop palmoplantar keratoderma, a condition that causes skin on the palms of the hands and the soles of the feet to become thick, scaly, and calloused. Cardiomyopathy, which is a disease of the heart muscle, is a life-threatening health problem that can develop in people with keratoderma with woolly hair. Unlike the other features of this condition, signs and symptoms of cardiomyopathy may not appear until adolescence or later. Complications of cardiomyopathy can include an abnormal heartbeat (arrhythmia), heart failure, and sudden death. Keratoderma with woolly hair comprises several related conditions with overlapping signs and symptoms. Researchers have recently proposed classifying keratoderma with woolly hair into four types, based on the underlying genetic cause. Type I, also known as Naxos disease, is characterized by palmoplantar keratoderma, woolly hair, and a form of cardiomyopathy called arrhythmogenic right ventricular cardiomyopathy (ARVC). Type II, also known as Carvajal syndrome, has hair and skin abnormalities similar to type I but features a different form of cardiomyopathy, called dilated left ventricular cardiomyopathy. Type III also has signs and symptoms similar to those of type I, including ARVC, although the hair and skin abnormalities are often milder. Type IV is characterized by palmoplantar keratoderma and woolly and sparse hair, as well as abnormal fingernails and toenails. Type IV does not appear to cause cardiomyopathy.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Bruises ?"}, {"role": "assistant", "content": "A bruise is a mark on your skin caused by blood trapped under the surface. It happens when an injury crushes small blood vessels but does not break the skin. Those vessels break open and leak blood under the skin. Bruises are often painful and swollen. You can get skin, muscle and bone bruises. Bone bruises are the most serious. It can take months for a bruise to fade, but most last about two weeks. They start off a reddish color, and then turn bluish-purple and greenish-yellow before returning to normal. To reduce bruising, ice the injured area and elevate it above your heart. See your healthcare provider if you seem to bruise for no reason, or if the bruise appears to be infected.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Colorectal Cancer ?"}, {"role": "assistant", "content": "Various drugs are under study as possible treatments for colorectal cancer. A 2005 study found that patients who took the drug AvastinTM with their standard chemotherapy treatment had a longer progression-free survival than those who did not take Avastin, but the evidence is mixed on whether or not Avastin can extend life. (The generic name for Avastin is bevacizumab.) Scientists are also working on vaccine therapies and monoclonal antibodies that may improve how patients' immune systems respond to colorectal cancers. Monoclonal antibodies are a single type of antibody that researchers make in large amounts in a laboratory.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) X-linked creatine deficiency ?"}, {"role": "assistant", "content": "X-linked creatine deficiency is an inherited disorder that primarily affects the brain. People with this disorder have intellectual disability, which can range from mild to severe, and delayed speech development. Some affected individuals develop behavioral disorders such as attention deficit hyperactivity disorder or autistic behaviors that affect communication and social interaction. They may also experience seizures. Children with X-linked creatine deficiency may experience slow growth and exhibit delayed development of motor skills such as sitting and walking. Affected individuals tend to tire easily. A small number of people with X-linked creatine deficiency have additional signs and symptoms including abnormal heart rhythms, an unusually small head (microcephaly), or distinctive facial features such as a broad forehead and a flat or sunken appearance of the middle of the face (midface hypoplasia).", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is restless legs syndrome inherited ?"}, {"role": "assistant", "content": "The inheritance pattern of restless legs syndrome is usually unclear because many genetic and environmental factors can be involved. The disorder often runs in families: 40 to 90 percent of affected individuals report having at least one affected first-degree relative, such as a parent or sibling, and many families have multiple affected family members. Studies suggest that the early-onset form of the disorder is more likely to run in families than the late-onset form. In some affected families, restless legs syndrome appears to have an autosomal dominant pattern of inheritance. Autosomal dominant inheritance suggests that one copy of an altered gene in each cell is sufficient to cause the disorder. However, the genetic changes associated with restless legs syndrome in these families have not been identified.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Dystonia 8 ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Dystonia 8? The Human Phenotype Ontology provides the following list of signs and symptoms for Dystonia 8. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Childhood onset - Dysarthria - Dysphagia - Facial grimacing - Infantile onset - Myokymia - Paroxysmal choreoathetosis - Paroxysmal dystonia - Torticollis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Congenital adrenal hyperplasia ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Congenital adrenal hyperplasia? The signs and symptoms of congenital adrenal hyperplasia (CAH) vary based on many factors including the type of CAH, the age of diagnosis and the sex of the affected person. For example, girls with the severe form of CAH may be born with ambiguous genitalia, which often allows the condition to be diagnosed before other associated health problems such as poor feeding, vomiting, dehydration, and abnormal heart beat, can develop. Males typically appear unaffected at birth even when they have a severe form of CAH and without proper diagnosis, will develop associated health problems within 2-3 weeks after birth. Both genders can experience other symptoms such as early onset of puberty, fast body growth, and premature completion of growth leading to short stature, if they are not treated in early life. People affected by milder forms may not have any signs and symptoms of CAH during childhood. In these cases, a diagnosis may not be made until adolescence or adulthood when the affected person experiences early signs of puberty or fertility problems. Females with this type may have excessive facial or body hair; irregular menstrual periods; and/or acne. There are two main types of CAH: classic CAH, the more severe form, and a milder form called nonclassic CAH. For a detailed description of the signs and symptoms found in each type of CAH, please click here. The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital adrenal hyperplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis 90% Accelerated skeletal maturation 90% Cryptorchidism 90% Displacement of the external urethral meatus 90% Female pseudohermaphroditism 90% Hypercortisolism 90% Abnormality of the thorax - Abnormality of the urinary system - Adrenal hyperplasia - Adrenogenital syndrome - Ambiguous genitalia, female - Autosomal recessive inheritance - Clitoromegaly - Congenital adrenal hyperplasia - Decreased circulating aldosterone level - Decreased circulating renin level - Decreased testicular size - Fever - Growth abnormality - Gynecomastia - Hyperpigmentation of the skin - Hypertension - Hypoglycemia - Hypokalemia - Hypokalemic alkalosis - Hypoplasia of the uterus - Hypoplasia of the vagina - Hypospadias - Long penis - Male pseudohermaphroditism - Neonatal onset - Precocious puberty in males - Primary amenorrhea - Renal salt wasting - Short stature - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Alcohol Use and Older Adults ?"}, {"role": "assistant", "content": "Most people with alcohol problems can be treated successfully. People with an alcohol use disorder and those who misuse alcohol and cannot stay within healthy drinking limits should stop drinking altogether. Others can cut back until their drinking is under control. Changing drinking habits isnt easy. Often it takes more than one try to succeed. But people dont have to go it alone. There are plenty of sources of help. (Watch the video to learn more about getting help for alcohol use disorder (AUD). To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.) A doctor can help decide the best treatment for people with alcohol problems. Many people need more than one kind of treatment. Medicines can help people with an alcohol use disorder quit drinking. Meeting with a therapist or substance-abuse counselor or with a support group may also help. Support from family and friends is important, too. Making a change sooner rather than later makes treatment more likely to succeed. When treatment is successful, people have longer and longer periods without drinking alcohol. Finally, they are able to stop drinking or stick to healthy drinking limits. But treatment does not always work. Relapse is common among people who overcome alcohol problems. People with drinking problems are most likely to relapse during periods of stress or when exposed to people or places associated with past drinking. Learn more about the treatment process for alcohol use disorder.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Cornelia de Lange syndrome ?"}, {"role": "assistant", "content": "How is Cornelia de Lange syndrome diagnosed? A diagnosis of Cornelia de Lange syndrome (CdLS) is generally based on the presence of characteristic signs and symptoms during a thorough medical evaluation. In some cases, genetic testing can be ordered to confirm the diagnosis; however, it may not be informative in all people affected by CdLS as the underlying genetic cause is unknown in approximately 30% of cases. GeneReviews' Web site offers more specific information about the treatment and management of CdLS. Please click on the link to access this resource.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Sotos syndrome ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of Sotos syndrome: - Gene Review: Gene Review: Sotos Syndrome - Genetic Testing Registry: Sotos' syndrome - MedlinePlus Encyclopedia: Increased Head Circumference These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Urinary Tract Infections ?"}, {"role": "assistant", "content": "Urinary tract infections (UTI) are a common bladder problem, especially as people age. UTIs are the second most common type of infection in the body. Each year, UTIs cause more than 8 million visits to health care providers. UTIs can happen anywhere in the urinary system (which includes the kidneys, bladder, and urethra). But UTIs are most common in the bladder. A UTI in the bladder is called cystitis. Infections in the bladder can spread to the kidneys. A UTI in the kidneys is called pyelonephritis. Sometimes, a UTI can also develop in the urethra, but this is less common. A UTI in the urethra is called urethritis. Learn more about urinary tract infections in adults.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Lennox-Gastaut syndrome ?"}, {"role": "assistant", "content": "Lennox-Gastaut syndrome is a form of severe epilepsy that begins in childhood. It is characterized by multiple types of seizures and intellectual disability. This condition can be caused by brain malformations, perinatal asphyxia (lack of oxygen), severe head injury, central nervous system infection and inherited degenerative or metabolic conditions. In about one-third of cases, no cause can be found. Treatment for Lennox-Gastaut syndrome includes anti-epileptic medications such as valproate, lamotrigine, felbamate, or topiramate. There is usually no single antiepileptic medication that will control seizures. Children may improve initially, but many later show tolerance to a drug or develop uncontrollable seizures.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Do you have information about Fires"}, {"role": "assistant", "content": "Summary : Whether a fire happens in your home or in the wild, it can be very dangerous. Fire spreads quickly. There is no time to gather valuables or make a phone call. In just two minutes, a fire can become life-threatening. In five minutes, a home can be engulfed in flames. Heat and smoke from fire can be more dangerous than the flames. Inhaling the super-hot air can burn your lungs. Fire produces poisonous gases that make you disoriented and drowsy. Instead of being awakened by a fire, you may fall into a deeper sleep. You can suffocate or be burned. Preventing fires is an important part of fire safety. Although there are no guarantees of safety during a fire, you can take actions to protect yourself. You should have a disaster plan. Being prepared can help reduce fear, anxiety, and losses. If you do experience a disaster, it is normal to feel stressed. You may need help in finding ways to cope. Federal Emergency Management Agency", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Gallbladder Cancer ?"}, {"role": "assistant", "content": "Tests that examine the gallbladder and nearby organs are used to detect (find), diagnose, and stage gallbladder cancer. Procedures that make pictures of the gallbladder and the area around it help diagnose gallbladder cancer and show how far the cancer has spread. The process used to find out if cancer cells have spread within and around the gallbladder is called staging. In order to plan treatment, it is important to know if the gallbladder cancer can be removed by surgery. Tests and procedures to detect, diagnose, and stage gallbladder cancer are usually done at the same time. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken. - Liver function tests : A procedure in which a blood sample is checked to measure the amounts of certain substances released into the blood by the liver. A higher than normal amount of a substance can be a sign of liver disease that may be caused by gallbladder cancer. - Carcinoembryonic antigen (CEA) assay : A test that measures the level of CEA in the blood. CEA is released into the bloodstream from both cancer cells and normal cells. When found in higher than normal amounts, it can be a sign of gallbladder cancer or other conditions. - CA 19-9 assay : A test that measures the level of CA 19-9 in the blood. CA 19-9 is released into the bloodstream from both cancer cells and normal cells. When found in higher than normal amounts, it can be a sign of gallbladder cancer or other conditions. - Blood chemistry studies : A procedure in which a blood sample is checked to measure the amounts of certain substances released into the blood by organs and tissues in the body. An unusual (higher or lower than normal) amount of a substance can be a sign of disease. - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, such as the chest, abdomen, and pelvis, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - Ultrasound exam: A procedure in which high-energy sound waves (ultrasound) are bounced off internal tissues or organs and make echoes. The echoes form a picture of body tissues called a sonogram. An abdominal ultrasound is done to diagnose gallbladder cancer. - PTC (percutaneous transhepatic cholangiography): A procedure used to x-ray the liver and bile ducts. A thin needle is inserted through the skin below the ribs and into the liver. Dye is injected into the liver or bile ducts and an x-ray is taken. If a blockage is found, a thin, flexible tube called a stent is sometimes left in the liver to drain bile into the small intestine or a collection bag outside the body. - Chest x-ray : An x-ray of the organs and bones inside the chest. An x-ray is a type of energy beam that can go through the body and onto film, making a picture of areas inside the body. - ERCP (endoscopic retrograde cholangiopancreatography): A procedure used to x-ray the ducts (tubes) that carry bile from the liver to the gallbladder and from the gallbladder to the small intestine. Sometimes gallbladder cancer causes these ducts to narrow and block or slow the flow of bile, causing jaundice. An endoscope (a thin, lighted tube) is passed through the mouth, esophagus, and stomach into the first part of the small intestine. A catheter (a smaller tube) is then inserted through the endoscope into the bile ducts. A dye is injected through the catheter into the ducts and an x-ray is taken. If the ducts are blocked by a tumor, a fine tube may be inserted into the duct to unblock it. This tube (or stent) may be left in place to keep the duct open. Tissue samples may also be taken. - Laparoscopy : A surgical procedure to look at the organs inside the abdomen to check for signs of disease. Small incisions (cuts) are made in the wall of the abdomen and a laparoscope (a thin, lighted tube) is inserted into one of the incisions. Other instruments may be inserted through the same or other incisions to perform procedures such as removing organs or taking tissue samples for biopsy. The laparoscopy helps to find out if the cancer is within the gallbladder only or has spread to nearby tissues and if it can be removed by surgery. - Biopsy : The removal of cells or tissues so they can be viewed under a microscope by a pathologist to check for signs of cancer. The biopsy may be done after surgery to remove the tumor. If the tumor clearly cannot be removed by surgery, the biopsy may be done using a fine needle to remove cells from the tumor.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to X-linked sideroblastic anemia and ataxia ?"}, {"role": "assistant", "content": "Mutations in the ABCB7 gene cause X-linked sideroblastic anemia and ataxia. The ABCB7 gene provides instructions for making a protein that is critical for heme production. Heme is a component of the hemoglobin protein, which is vital for supplying oxygen to the entire body. The ABCB7 protein also plays a role in the formation of certain proteins containing clusters of iron and sulfur atoms. Overall, researchers believe that the ABCB7 protein helps maintain an appropriate balance of iron (iron homeostasis) in developing red blood cells. ABCB7 mutations slightly alter the structure of the ABCB7 protein, disrupting its usual role in heme production and iron homeostasis. Anemia results when heme cannot be produced normally, and therefore not enough hemoglobin is made. It is unclear how changes in the ABCB7 gene lead to ataxia and other problems with movement.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Hemochromatosis ?"}, {"role": "assistant", "content": "A person with hemochromatosis may notice one or more of the following symptoms:\n \n- joint pain - fatigue, or feeling tired - unexplained weight loss - abnormal bronze or gray skin color - abdominal pain - loss of sex drive\n \nNot everyone with hemochromatosis will develop these symptoms.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Pneumococcal Infections ?"}, {"role": "assistant", "content": "Pneumococci are a type of streptococcus bacteria. The bacteria spread through contact with people who are ill or by healthy people who carry the bacteria in the back of their nose. Pneumococcal infections can be mild or severe. The most common types of infections are - Ear infections - Sinus infections - Pneumonia - Sepsis - Meningitis How the diagnosis is made depends upon where the infection is. Your doctor will do a physical exam and health history. Possible tests may include blood, imaging, or lab tests. Treatment is with antibiotics. Vaccines can prevent pneumococcal infections. There are two vaccines. One is for infants and young children. The other is for people at high risk, including those who are over 65 years old, have chronic illnesses or weak immune systems, smoke, have asthma, or live in long-term care facilities. Centers for Disease Control and Prevention", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Panic Disorder ?"}, {"role": "assistant", "content": "Panic disorder is a type of anxiety disorder. It causes panic attacks, which are sudden feelings of terror when there is no real danger. You may feel as if you are losing control. You may also have physical symptoms, such as - Fast heartbeat - Chest or stomach pain - Breathing difficulty - Weakness or dizziness - Sweating - Feeling hot or a cold chill - Tingly or numb hands Panic attacks can happen anytime, anywhere, and without warning. You may live in fear of another attack and may avoid places where you have had an attack. For some people, fear takes over their lives and they cannot leave their homes. Panic disorder is more common in women than men. It usually starts when people are young adults. Sometimes it starts when a person is under a lot of stress. Most people get better with treatment. Therapy can show you how to recognize and change your thinking patterns before they lead to panic. Medicines can also help. NIH: National Institute of Mental Health", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Geniospasm ?"}, {"role": "assistant", "content": "How might hereditary geniospasm be diagnosed? Although we were unable to locate laboratories offering genetic testing for hereditary geniospasm, the condition can be diagnosed on the basis of a clinical evaluation performed by a health care professional such as a neurologist who specializes in movement disorders.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Adrenal Gland Cancer ?"}, {"role": "assistant", "content": "Your adrenal, or suprarenal, glands are located on the top of each kidney. These glands produce hormones that you can't live without, including sex hormones and cortisol, which helps you respond to stress and has many other functions. A number of disorders can affect the adrenal glands, including tumors. Tumors can be either benign or malignant. Benign tumors aren't cancer. Malignant ones are. Most adrenal gland tumors are benign. They usually do not cause symptoms and may not require treatment. Malignant adrenal gland cancers are uncommon. Types of tumors include - Adrenocortical carcinoma - cancer in the outer part of the gland - Neuroblastoma, a type of childhood cancer - Pheochromocytoma - a rare tumor that is usually benign Symptoms depend on the type of cancer you have. Treatments may include surgery, chemotherapy, or radiation therapy.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Pernicious Anemia ?"}, {"role": "assistant", "content": "Your doctor will diagnose pernicious anemia based on your medical and family histories, a physical exam, and test results.\n \nYour doctor will want to find out whether the condition is due to a lack of intrinsic factor or another cause. He or she also will want to find out the severity of the condition, so it can be properly treated.\n \nSpecialists Involved\n \nPrimary care doctorssuch as family doctors, internists, and pediatricians (doctors who treat children)often diagnose and treat pernicious anemia. Other kinds of doctors also may be involved, including:\n \nA neurologist (nervous system specialist)\n \nA cardiologist (heart specialist)\n \nA hematologist (blood disease specialist)\n \nA gastroenterologist (digestive tract specialist)\n \nMedical and Family Histories\n \nYour doctor may ask about your signs and symptoms. He or she also may ask:\n \nWhether you've had any stomach or intestinal surgeries\n \nWhether you have any digestive disorders, such as celiac disease or Crohn's disease\n \nAbout your diet and any medicines you take\n \nWhether you have a family history of anemia or pernicious anemia\n \nWhether you have a family history of autoimmune disorders (such as Addison's disease, type 1 diabetes, Graves' disease, or vitiligo). Research suggests a link may exist between these autoimmune disorders and pernicious anemia that's caused by an autoimmune response.\n \nPhysical Exam\n \nDuring the physical exam, your doctor may check for pale or yellowish skin and an enlarged liver. He or she may listen to your heart for rapid or irregular heartbeats or a heart murmur.\n \nYour doctor also may check for signs of nerve damage. He or she may want to see how well your muscles, eyes, senses, and reflexes work. Your doctor may ask questions or do tests to check your mental status, coordination, and ability to walk.\n \nDiagnostic Tests and Procedures\n \nBlood tests and procedures can help diagnose pernicious anemia and find out what's causing it.\n \nComplete Blood Count\n \nOften, the first test used to diagnose many types of anemia is a complete blood count (CBC). This test measures many parts of your blood. For this test, a small amount of blood is drawn from a vein (usually in your arm) using a needle.\n \nA CBC checks your hemoglobin (HEE-muh-glow-bin) and hematocrit (hee-MAT-oh-crit) levels. Hemoglobin is an iron-rich protein that helps red blood cells carry oxygen from the lungs to the rest of the body. Hematocrit is a measure of how much space red blood cells take up in your blood. A low level of hemoglobin or hematocrit is a sign of anemia.\n \nThe normal range of these levels may be lower in certain racial and ethnic populations. Your doctor can explain your test results to you.\n \nThe CBC also checks the number of red blood cells, white blood cells, and platelets (PLATE-lets) in your blood. Abnormal results may be a sign of anemia, another blood disorder, an infection, or another condition.\n \nFinally, the CBC looks at mean corpuscular (kor-PUS-kyu-lar) volume (MCV). MCV is a measure of the average size of your red blood cells. MCV can be a clue as to what's causing your anemia. In pernicious anemia, the red blood cells tend to be larger than normal.\n \nOther Blood Tests\n \nIf the CBC results confirm that you have anemia, you may need other blood tests to find out what type of anemia you have.\n \nA reticulocyte (re-TIK-u-lo-site) count measures the number of young red blood cells in your blood. The test shows whether your bone marrow is making red blood cells at the correct rate. People who have pernicious anemia have low reticulocyte counts.\n \nSerum folate, iron, and iron-binding capacity tests also can help show whether you have pernicious anemia or another type of anemia.\n \nAnother common test, called the Combined Binding Luminescence Test, sometimes gives false results. Scientists are working to develop a more reliable test.\n \nYour doctor may recommend other blood tests to check:\n \nYour vitamin B12 level. A low level of vitamin B12 in the blood indicates pernicious anemia. However, a falsely normal or high value of vitamin B12 in the blood may occur if antibodies interfere with the test.\n \nYour homocysteine and methylmalonic acid (MMA) levels. High levels of these substances in your body are a sign of pernicious anemia.\n \nFor intrinsic factor antibodies and parietal cell antibodies. These antibodies also are a sign of pernicious anemia.\n \nBone Marrow Tests\n \nBone marrow tests can show whether your bone marrow is healthy and making enough red blood cells. The two bone marrow tests are aspiration (as-pi-RA-shun) and biopsy.\n \nFor aspiration, your doctor removes a small amount of fluid bone marrow through a needle. For a biopsy, your doctor removes a small amount of bone marrow tissue through a larger needle. The samples are then examined under a microscope.\n \nIn pernicious anemia, the bone marrow cells that turn into blood cells are larger than normal.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Sjogren-Larsson-like syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Sjogren-Larsson-like syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Sjogren-Larsson-like syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the eye - Abnormality of the nervous system - Autosomal recessive inheritance - Congenital ichthyosiform erythroderma - Hyperkeratosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Cataract ?"}, {"role": "assistant", "content": "National Eye Institute National Institutes of Health 2020 Vision Place Bethesda, MD 20892-3655 301-496-5248 E-mail: 2020@nei.nih.gov www.nei.nih.gov For more information about intraocular lenses, or IOLs, contact: U.S. Food and Drug Administration 10903 New Hampshire Avenue Silver Spring, MD 20993-0002 1-888-463-6332 E-mail: webmail@oc.fda.gov", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Behr syndrome ?"}, {"role": "assistant", "content": "How might Behr syndrome be treated? Treatment is symptomatic. For instance, people who develop muscle contractures may have to undergo surgery.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Wolfram syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Wolfram syndrome? There are two types of Wolfram syndrome (type 1 and type 2) which have many overlapping features. Wolfram syndrome type 1, which is also known by the acronym DIDMOAD, is characterized by diabetes insipidus (DI), childhood-onset diabetes mellitus (DM), gradual loss of vision due to optic atrophy (OA), and deafness (D). About 65% of affected people will develop all four of these symptoms, while others will only have some of the associated health problems. Other signs and symptoms of Wolfram syndrome type 1 may include: Urinary tract abnormalities Ataxia (problems with coordination and balance) Loss of sense of smell Loss of gag reflex Myoclonus (muscle spasms) Peripheral neuropathy Seizures Depression Impulsive and/or aggressive behavior Psychosis Gastrointestinal problems Intellectual disability Central apnea and central respiratory failure Hypogonadism in males (reduced amounts of the sex hormone testosterone) In addition to the signs and symptoms found in Wolfram syndrome type 1, people with Wolfram syndrome type 2 may also have stomach and/or intestinal ulcers; and a tendancy to bleed excessivly after injuries. The Human Phenotype Ontology provides the following list of signs and symptoms for Wolfram syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Diabetes insipidus 90% Diabetes mellitus 90% Hearing impairment 90% Optic atrophy 90% Hypoglycemia 50% Incoordination 50% Nephropathy 50% Neurological speech impairment 50% Nystagmus 50% Recurrent urinary tract infections 50% Seizures 50% Visual impairment 50% Abnormality of the autonomic nervous system 7.5% Abnormality of the gastric mucosa 7.5% Abnormality of the genital system 7.5% Anemia 7.5% Apnea 7.5% Cataract 7.5% Cerebral cortical atrophy 7.5% Cognitive impairment 7.5% Congestive heart failure 7.5% Constipation 7.5% Developmental regression 7.5% Feeding difficulties in infancy 7.5% Gastric ulcer 7.5% Gastrointestinal hemorrhage 7.5% Glaucoma 7.5% Hallucinations 7.5% Hypertrophic cardiomyopathy 7.5% Hypothyroidism 7.5% Limitation of joint mobility 7.5% Malabsorption 7.5% Myopathy 7.5% Ophthalmoparesis 7.5% Peripheral neuropathy 7.5% Recurrent respiratory infections 7.5% Reduced consciousness/confusion 7.5% Renal insufficiency 7.5% Respiratory insufficiency 7.5% Retinopathy 7.5% Sleep disturbance 7.5% Abnormal bleeding - Abnormality of the skeletal system - Ataxia - Autosomal recessive inheritance - Behavioral abnormality - Blindness - Cardiomyopathy - Cerebral atrophy - Dysarthria - Dysautonomia - Dysphagia - Growth delay - Hydronephrosis - Hydroureter - Impaired collagen-induced platelet aggregation - Intellectual disability - Limited mobility of proximal interphalangeal joint - Megaloblastic anemia - Neurogenic bladder - Neutropenia - Optic neuropathy - Pigmentary retinopathy - Ptosis - Sensorineural hearing impairment - Sideroblastic anemia - Stroke-like episodes - Testicular atrophy - Thrombocytopenia - Tremor - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Premature ovarian failure, familial ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Premature ovarian failure, familial? The Human Phenotype Ontology provides the following list of signs and symptoms for Premature ovarian failure, familial. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis - Increased circulating gonadotropin level - Menstrual irregularities - Premature ovarian failure - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Eye Diseases ?"}, {"role": "assistant", "content": "Some eye problems are minor and don't last long. But some can lead to a permanent loss of vision. Common eye problems include - Refractive errors - Cataracts - clouded lenses - Glaucoma - a disorder caused by damage to the optic nerve - Retinal disorders - problems with the nerve layer at the back of the eye - Macular degeneration - a disease that destroys sharp, central vision - Diabetic eye problems - Conjunctivitis - an infection also known as pinkeye Your best defense is to have regular checkups, because eye diseases do not always have symptoms. Early detection and treatment could prevent vision loss. See an eye care professional right away if you have a sudden change in vision, if everything looks dim, or if you see flashes of light. Other symptoms that need quick attention are pain, double vision, fluid coming from the eye, and inflammation. NIH: National Eye Institute", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Lafora progressive myoclonus epilepsy ?"}, {"role": "assistant", "content": "Lafora progressive myoclonus epilepsy is a brain disorder characterized by recurrent seizures (epilepsy) and a decline in intellectual function. The signs and symptoms of the disorder usually appear in late childhood or adolescence and worsen with time. Myoclonus is a term used to describe episodes of sudden, involuntary muscle jerking or twitching that can affect part of the body or the entire body. Myoclonus can occur when an affected person is at rest, and it is made worse by motion, excitement, or flashing light (photic stimulation). In the later stages of Lafora progressive myoclonus epilepsy, myoclonus often occurs continuously and affects the entire body. Several types of seizures commonly occur in people with Lafora progressive myoclonus epilepsy. Generalized tonic-clonic seizures (also known as grand mal seizures) affect the entire body, causing muscle rigidity, convulsions, and loss of consciousness. Affected individuals may also experience occipital seizures, which can cause temporary blindness and visual hallucinations. Over time, the seizures worsen and become more difficult to treat. A life-threatening seizure condition called status epilepticus may also develop. Status epilepticus is a continuous state of seizure activity lasting longer than several minutes. About the same time seizures begin, intellectual function starts to decline. Behavioral changes, depression, confusion, and speech difficulties (dysarthria) are among the early signs and symptoms of this disorder. As the condition progresses, a continued loss of intellectual function (dementia) impairs memory, judgment, and thought. Affected people lose the ability to perform the activities of daily living by their mid-twenties, and they ultimately require comprehensive care. People with Lafora progressive myoclonus epilepsy generally survive up to 10 years after symptoms first appear.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by fibrochondrogenesis ?"}, {"role": "assistant", "content": "Fibrochondrogenesis appears to be a rare disorder. About 20 affected individuals have been described in the medical literature.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Roberts syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Roberts syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Roberts syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair quantity 90% Aplasia/Hypoplasia of the radius 90% Aplasia/Hypoplasia of the thumb 90% Bowing of the long bones 90% Clinodactyly of the 5th finger 90% Hypertelorism 90% Hypoplasia of the zygomatic bone 90% Intrauterine growth retardation 90% Microcephaly 90% Short stature 90% Underdeveloped nasal alae 90% Upper limb phocomelia 90% Abnormality of female external genitalia 50% Aplasia/Hypoplasia of the earlobes 50% Brachydactyly syndrome 50% Cataract 50% Cognitive impairment 50% Cryptorchidism 50% Long penis 50% Oral cleft 50% Premature birth 50% Proptosis 50% Radioulnar synostosis 50% Underdeveloped supraorbital ridges 50% Abnormality of the palate 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Blue sclerae 7.5% Craniosynostosis 7.5% Finger syndactyly 7.5% Glaucoma 7.5% Multicystic kidney dysplasia 7.5% Nystagmus 7.5% Patellar aplasia 7.5% Polyhydramnios 7.5% Sandal gap 7.5% Short neck 7.5% Single transverse palmar crease 7.5% Stillbirth 7.5% Synostosis of carpal bones 7.5% Thrombocytopenia 7.5% Abnormality of the metacarpal bones - Absent earlobe - Accessory spleen - Ankle contracture - Atria septal defect - Autosomal recessive inheritance - Bicornuate uterus - Biliary tract abnormality - Brachycephaly - Cafe-au-lait spot - Cleft eyelid - Cleft palate - Cleft upper lip - Clinodactyly - Clitoromegaly - Cranial nerve paralysis - Cystic hygroma - Elbow flexion contracture - Enlarged labia minora - Frontal encephalocele - High palate - Horseshoe kidney - Hydrocephalus - Hypospadias - Intellectual disability - Knee flexion contracture - Low-set ears - Malar flattening - Microphthalmia - Midface capillary hemangioma - Narrow naris - Oligodactyly (hands) - Opacification of the corneal stroma - Patent ductus arteriosus - Phocomelia - Polycystic kidney dysplasia - Posteriorly rotated ears - Postnatal growth retardation - Premature separation of centromeric heterochromatin - Radial deviation of finger - Severe intrauterine growth retardation - Shallow orbits - Sparse hair - Syndactyly - Talipes equinovalgus - Ventricular septal defect - Wide nasal bridge - Wrist flexion contracture - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Mineral and Bone Disorder in Chronic Kidney Disease ?"}, {"role": "assistant", "content": "Treating mineral and bone disorder in CKD includes preventing damage to bones by controlling parathyroid hormone levels through changes in eating, diet, and nutrition; medications and supplements; and dialysis. If these treatments do not bring parathyroid hormone levels under control, a health care provider may remove a persons parathyroid glands surgically, a procedure called a parathyroidectomy.\n \nEating, Diet, and Nutrition\n \nChanges in diet can treat mineral and bone disorder in CKD. Reducing dietary intake of phosphorus is one of the most important steps in preventing bone disease. Most foods contain phosphorus; however, processed and packaged foods contain especially high levels of phosphorus. Food producers use phosphorus as an additive to preserve the food on the shelf. People who have CKD or are on dialysis should avoid packaged foods containing ingredients that include the letters PHOS. A renal dietitian can help develop a dietary plan to control phosphorus levels in the blood. Some drinks and natural foods also contain high amounts of phosphorus, including\n \n- beer - cheese - cocoa - dark sodas - dried beans - milk - nuts - peanut butter - peas\n \nMore information is provided in the NIDDK health topics, How To Read a Food Label: Tips for People with Chronic Kidney Disease and Phosphorus: Tips for People with Chronic Kidney Disease.\n \nMedications and Supplements\n \nMedications protect the bones by restoring the proper balance of minerals and hormones. If the kidneys do not make adequate amounts of calcitriol, a health care provider may prescribe synthetic calcitriol as a pill (Rocaltrol) or, for dialysis patients, in an injectable form (Calcijex). Calcitriol helps reduce parathyroid hormone levels. Medications called doxercalciferol (Hectorol) and paricalcitol (Zemplar) act like calcitriol because they are also activated forms of vitamin D. A health care provider may prescribe a calcium supplement in addition to calcitriol or another activated form of vitamin D.\n \nCertain forms of vitamin Davailable by prescription or as over-the-counter vitamin supplementsrequire activation by a persons kidneys before they can act as calcitriol does. However, the benefits of some of these not-yet-activated forms of vitamin Dfor example, ergocalciferol (Calciferol, Drisdol) or cholecalciferol (Delta D3)are unclear. To help ensure coordinated and safe care, people should discuss their use of alternative medications, including use of vitamin and mineral supplements, with their health care provider.\n \nCinacalcet hydrochloride (Sensipar) belongs to another class of prescription medications called calcimimetics. Cinacalcet lowers parathyroid hormone levels by imitating calciums effects on the parathyroid gland. Generally, this medication is used only in people on dialysis.\n \nOften, health care providers will prescribe medications called phosphate binderssuch as calcium carbonate (Tums), calcium acetate (PhosLo), sevelamer carbonate (Renvela), or lanthanum carbonate (Fosrenol)to take with meals and snacks to bind phosphorus in the bowel. These medications decrease the absorption of phosphorus into the blood.\n \nDialysis\n \nDialysis is the process of filtering wastes and extra fluid from the body by means other than the kidneys. The two forms of dialysis are hemodialysis and peritoneal dialysis:\n \n- Hemodialysis uses a machine to circulate a persons blood through a filter outside the body. The blood passes from a patients body through a needle, at nearly 1 pint per minute. The blood then travels through a tube that takes it to the filter, called a dialyzer. Inside the dialyzer, the blood flows through thin fibers that filter out wastes and extra fluid. After the machine filters the blood, it passes back to the body through another tube. More information is provided in the NIDDK health topic, Treatment Methods for Kidney Failure: Hemodialysis. - Peritoneal dialysis uses the lining of the abdomen to filter a persons blood inside the body. A soft tube called a catheter is placed in the patients abdomen a few weeks before peritoneal dialysis begins. A person uses the catheter to fill the empty space inside the abdomen with dialysis solutiona kind of salty waterfrom a plastic bag. While inside the body, the dialysis solution absorbs wastes and extra fluid. After a few hours, the person drains the used dialysis solution into another bag for disposal. The person then restarts the process with a fresh bag of dialysis solution. More information is provided in the NIDDK health topic, Treatment Methods for Kidney Failure: Peritoneal Dialysis.\n \nIncreasing a persons dialysis dose can help control the blood phosphorus level. In hemodialysis, the health care provider can adjust the dose by increasing how quickly the blood flows to and from the dialyzer. Another way to adjust the dose involves increasing the time of a persons dialysis session or the number of sessions. In peritoneal dialysis, using more dialysis solution in each fill or increasing the number of fills each day increases the dose. More information is provided in the NIDDK health topics:\n \n- Hemodialysis Dose and Adequacy - Peritoneal Dialysis Dose and Adequacy\n \nParathyroidectomy\n \nIf diet, medications, and dialysis cant control parathyroid hormone levels, a surgeon can remove one or more of the parathyroid glands. He or she performs the procedure using general anesthesia.\n \nA good treatment program, including a low-phosphorus diet, appropriate medications, adequate dialysis, and, if necessary, surgery, can improve the bodys ability to repair bones damaged by mineral and bone disorder in CKD. Overall, people can improve their bone health by exercising and not smoking. People should consult a health care provider before beginning any exercise program.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Glycogen storage disease type 13 ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Glycogen storage disease type 13? Glycogen storage disease type 13 causes muscle pain (myalgia). Individuals with GSD13 also experience exercise intolerance, which means they have difficulty exercising because they may have muscle weakness and tire easily. The Human Phenotype Ontology provides the following list of signs and symptoms for Glycogen storage disease type 13. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Adult onset - Autosomal recessive inheritance - Elevated serum creatine phosphokinase - Exercise intolerance - Increased muscle glycogen content - Myalgia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet? The Human Phenotype Ontology provides the following list of signs and symptoms for Trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Midline defect of the nose 90% Muscular hypotonia 90% Narrow forehead 90% Prominent metopic ridge 90% Trigonocephaly 90% Wide mouth 90% Autosomal recessive inheritance - Bifid nasal tip - Bifid nose - Brachycephaly - Broad metatarsal - Broad phalanx - Bulbous nose - Severe global developmental delay - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) succinate-CoA ligase deficiency ?"}, {"role": "assistant", "content": "Succinate-CoA ligase deficiency is an inherited disorder that affects the early development of the brain and other body systems. One of the earliest signs of the disorder is very weak muscle tone (severe hypotonia), which appears in the first few months of life. Severe hypotonia delays the development of motor skills such as holding up the head and rolling over. Many affected children also have muscle weakness and reduced muscle mass, which prevents them from standing and walking independently. Additional features of succinate-CoA ligase deficiency can include progressive abnormal curvature of the spine (scoliosis or kyphosis), uncontrolled movements (dystonia), severe hearing loss, and seizures beginning in childhood. In most affected children, a substance called methylmalonic acid builds up abnormally in the body and is excreted in urine (methylmalonic aciduria). Most children with succinate-CoA ligase deficiency also experience a failure to thrive, which means that they gain weight and grow more slowly than expected. Succinate-CoA ligase deficiency causes breathing difficulties that often lead to recurrent infections of the respiratory tract. These infections can be life-threatening, and most people with succinate-CoA ligase deficiency live only into childhood or adolescence. A few individuals with succinate-CoA ligase deficiency have had an even more severe form of the disorder known as fatal infantile lactic acidosis. Affected infants develop a toxic buildup of lactic acid in the body (lactic acidosis) in the first day of life, which leads to muscle weakness and breathing difficulties. Children with fatal infantile lactic acidosis usually live only a few days after birth.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Diabetic Kidney Disease ?"}, {"role": "assistant", "content": "People with diabetes should get regular screenings for kidney disease. The National Kidney Disease Education Program recommends the following:\n \n- urine albumin-to-creatinine ratio measured at least once a year in all people with type 2 diabetes and people who have had type 1 diabetes for 5 years or more - eGFR calculated at least once a year in all people with type 1 or type 2 diabetes", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for hypercholesterolemia ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of hypercholesterolemia: - Gene Review: Gene Review: Familial Hypercholesterolemia - GeneFacts: Familial Hypercholesterolemia: Diagnosis - GeneFacts: Familial Hypercholesterolemia: Management - Genetic Testing Registry: Familial hypercholesterolemia - Genetic Testing Registry: Hypercholesterolemia, autosomal dominant, 3 - Genetic Testing Registry: Hypercholesterolemia, autosomal dominant, type B - Genetic Testing Registry: Hypercholesterolemia, autosomal recessive - Genomics Education Programme (UK) - MedlinePlus Encyclopedia: Familial hypercholesterolemia - MedlinePlus Encyclopedia: High blood cholesterol and triglycerides - MedlinePlus Encyclopedia: Xanthoma These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Attention Deficit Hyperactivity Disorder ?"}, {"role": "assistant", "content": "Is it hard for your child to sit still? Does your child act without thinking first? Does your child start but not finish things? If so, your child may have attention deficit hyperactivity disorder (ADHD). Nearly everyone shows some of these behaviors at times, but ADHD lasts more than 6 months and causes problems in school, at home and in social situations. ADHD is more common in boys than girls. It affects 3-5 percent of all American children. The main features of ADHD are - Inattention - Hyperactivity - Impulsivity No one knows exactly what causes ADHD. It sometimes runs in families, so genetics may be a factor. There may also be environmental factors. A complete evaluation by a trained professional is the only way to know for sure if your child has ADHD. Treatment may include medicine to control symptoms, therapy, or both. Structure at home and at school is important. Parent training may also help. NIH: National Institute of Mental Health", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the stages of Melanoma ?"}, {"role": "assistant", "content": "Key Points\n - After melanoma has been diagnosed, tests are done to find out if cancer cells have spread within the skin or to other parts of the body. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. - The method used to stage melanoma is based mainly on the thickness of the tumor and whether cancer has spread to lymph nodes or other parts of the body. - The following stages are used for melanoma: - Stage 0 (Melanoma in Situ) - Stage I - Stage II - Stage III - Stage IV\n \n \n After melanoma has been diagnosed, tests are done to find out if cancer cells have spread within the skin or to other parts of the body.\n The process used to find out whether cancer has spread within the skin or to other parts of the body is called staging. The information gathered from the staging process determines the stage of the disease. It is important to know the stage in order to plan treatment. The following tests and procedures may be used in the staging process: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken. - Lymph node mapping and sentinel lymph node biopsy : Procedures in which a radioactive substance and/or blue dye is injected near the tumor. The substance or dye flows through lymph ducts to the sentinel node or nodes (the first lymph node or nodes where cancer cells are likely to spread). The surgeon removes only the nodes with the radioactive substance or dye. A pathologist views a sample of tissue under a microscope to check for cancer cells. If no cancer cells are found, it may not be necessary to remove more nodes. - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. For melanoma, pictures may be taken of the chest, abdomen, and pelvis. - PET scan (positron emission tomography scan): A procedure to find malignant tumor cells in the body. A small amount of radioactive glucose (sugar) is injected into a vein. The PET scanner rotates around the body and makes a picture of where glucose is being used in the body. Malignant tumor cells show up brighter in the picture because they are more active and take up more glucose than normal cells do. - MRI (magnetic resonance imaging) with gadolinium : A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body, such as the brain. A substance called gadolinium is injected into a vein. The gadolinium collects around the cancer cells so they show up brighter in the picture. This procedure is also called nuclear magnetic resonance imaging (NMRI). - Blood chemistry studies : A procedure in which a blood sample is checked to measure the amounts of certain substances released into the blood by organs and tissues in the body. For melanoma, the blood is checked for an enzyme called lactate dehydrogenase (LDH). LDH levels that are higher than normal may be a sign of melanoma. The results of these tests are viewed together with the results of the tumor biopsy to find out the stage of the melanoma.\n \n \n There are three ways that cancer spreads in the body.\n Cancer can spread through tissue, the lymph system, and the blood: - Tissue. The cancer spreads from where it began by growing into nearby areas. - Lymph system. The cancer spreads from where it began by getting into the lymph system. The cancer travels through the lymph vessels to other parts of the body. - Blood. The cancer spreads from where it began by getting into the blood. The cancer travels through the blood vessels to other parts of the body.\n \n \n Cancer may spread from where it began to other parts of the body.\n When cancer spreads to another part of the body, it is called metastasis. Cancer cells break away from where they began (the primary tumor) and travel through the lymph system or blood. - Lymph system. The cancer gets into the lymph system, travels through the lymph vessels, and forms a tumor (metastatic tumor) in another part of the body. - Blood. The cancer gets into the blood, travels through the blood vessels, and forms a tumor (metastatic tumor) in another part of the body. The metastatic tumor is the same type of cancer as the primary tumor. For example, if melanoma spreads to the lung, the cancer cells in the lung are actually melanoma cells. The disease is metastatic melanoma, not lung cancer.\n \n \n The method used to stage melanoma is based mainly on the thickness of the tumor and whether cancer has spread to lymph nodes or other parts of the body.\n The staging of melanoma depends on the following: - The thickness of the tumor. The thickness is described using the Breslow scale. - Whether the tumor is ulcerated (has broken through the skin). - Whether the tumor has spread to the lymph nodes and if the lymph nodes are joined together (matted). - Whether the tumor has spread to other parts of the body.\n \n \n The following stages are used for melanoma:\n Stage 0 (Melanoma in Situ) In stage 0, abnormal melanocytes are found in the epidermis. These abnormal melanocytes may become cancer and spread into nearby normal tissue. Stage 0 is also called melanoma in situ. Stage I In stage I, cancer has formed. Stage I is divided into stages IA and IB. - Stage IA: In stage IA, the tumor is not more than 1 millimeter thick, with no ulceration. - Stage IB: In stage IB, the tumor is either: - not more than 1 millimeter thick and it has ulceration; or - more than 1 but not more than 2 millimeters thick, with no ulceration. Stage II Stage II is divided into stages IIA, IIB, and IIC. - Stage IIA: In stage IIA, the tumor is either: - more than 1 but not more than 2 millimeters thick, with ulceration; or - more than 2 but not more than 4 millimeters thick, with no ulceration. - Stage IIB: In stage IIB, the tumor is either: - more than 2 but not more than 4 millimeters thick, with ulceration; or - more than 4 millimeters thick, with no ulceration. - Stage IIC: In stage IIC, the tumor is more than 4 millimeters thick, with ulceration. Stage III In stage III, the tumor may be any thickness, with or without ulceration. One or more of the following is true: - Cancer has spread to one or more lymph nodes. - Lymph nodes are joined together (matted). - Cancer is in a lymph vessel between the primary tumor and nearby lymph nodes. The cancer is more than 2 centimeters away from the primary tumor. - Very small tumors are found on or under the skin, not more than 2 centimeters away from the primary tumor. Stage IV In stage IV, the cancer has spread to other places in the body, such as the lung, liver, brain, bone, soft tissue, or gastrointestinal (GI) tract. Cancer may have spread to places in the skin far away from where it first started.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Nance-Horan syndrome inherited ?"}, {"role": "assistant", "content": "How is Nance-Horan syndrome inherited? Nance-Horan syndrome is inherited as an X-linked dominant trait. In X-linked dominant inheritance, both males and females can be affected by a condition. However, affected males tend to have more severe features than females. X-linked conditions result from mutations of a gene located on an X chromosome. Females have two X chromosomes, but males have one X chromosome and one Y chromosome. In females, disease traits resulting from the abnormal copy of a gene on one X chromosome can be 'masked' by the normal copy of the gene on the other X chromosome. Because only one functioning X chromosome is required in males and females, one of the X chromosomes in each cell of a female is essentially 'turned off,' usually in a random pattern (X chromosome inactivation). Therefore, if the X chromosome with the gene mutation is activated in some cells, female carriers may have some mild features of the disorder. However, since males only have one X chromosome, they will likely fully express a condition if they inherit a gene mutation that is located on the X chromosome.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Melioidosis ?"}, {"role": "assistant", "content": "Melioidosis is an infectious disease caused by the bacteria Burkholderia pseudomallei that are commonly found in the soil and water. Melioidosis is a rare disease in the United States, but it is common in tropical or subtropical areas of the world, including Southeast Asia, Africa, and Australia. The signs and symptoms of the disease can vary greatly and may mimic those of tuberculosis or common forms of pneumonia. Signs and symptoms may include pain or swelling, fever, abscess, cough, high fever, headache, trouble breathing, and more. Although healthy people can also experience signs and symptoms of the disease, people with certain conditions like diabetes, liver disease, kidney disease, lung disease, thalassemia, cancer, or certain autoimmune diseases are more severely affected. Diagnosis is made by collecting blood, sputum, urine, or pus samples and growing the bacteria. Current treatment is divided into two stages: an intravenous (IV) antibiotic stage and oral antibiotic maintenance stage to prevent recurrence.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Myhre syndrome ?"}, {"role": "assistant", "content": "Myhre syndrome is a condition with features affecting many systems and functions of the body. People with Myhre syndrome usually have delayed development of language and motor skills such as crawling and walking. Most have intellectual disability that ranges from mild to moderate. Some have behavioral issues such as features of autism or related developmental disorders affecting communication and social interaction. People with Myhre syndrome often have hearing loss, which can be caused by changes in the inner ear (sensorineural deafness), changes in the middle ear (conductive hearing loss), or both (mixed hearing loss). Growth is reduced in people with this disorder, beginning before birth and continuing through adolescence. Affected individuals have a low birth weight and are generally shorter than about 97 percent of their peers throughout life. People with Myhre syndrome typically have stiffness of the skin and are usually described as having a muscular appearance. Skeletal abnormalities associated with this disorder include thickening of the skull bones, flattened bones of the spine (platyspondyly), broad ribs, underdevelopment of the winglike structures of the pelvis (hypoplastic iliac wings), and unusually short fingers and toes (brachydactyly). Affected individuals often have joint problems (arthropathy), including stiffness and limited mobility. Typical facial features in people with Myhre syndrome include narrow openings of the eyelids (short palpebral fissures), a shortened distance between the nose and upper lip (a short philtrum), a sunken appearance of the middle of the face (midface hypoplasia), a small mouth with a thin upper lip, and a protruding jaw (prognathism). Some affected individuals also have an opening in the roof of the mouth (a cleft palate), a split in the lip (a cleft lip), or both. Other features that occur in some people with this disorder include constriction of the throat (laryngotracheal stenosis), high blood pressure (hypertension), heart or eye abnormalities, and in males, undescended testes (cryptorchidism). A disorder sometimes called laryngotracheal stenosis, arthropathy, prognathism, and short stature (LAPS) syndrome is now generally considered to be the same condition as Myhre syndrome because it has similar symptoms and the same genetic cause.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Breathing Problems ?"}, {"role": "assistant", "content": "When you're short of breath, it's hard or uncomfortable for you to take in the oxygen your body needs. You may feel as if you're not getting enough air. Sometimes mild breathing problems are from a stuffy nose or hard exercise. But shortness of breath can also be a sign of a serious disease. Many conditions can make you feel short of breath. Lung conditions such as asthma, emphysema or pneumonia cause breathing difficulties. So can problems with your trachea or bronchi, which are part of your airway system. Heart disease can make you feel breathless if your heart cannot pump enough blood to supply oxygen to your body. Stress caused by anxiety can also make it hard for you to breathe. If you often have trouble breathing, it is important to find out the cause.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Autosomal dominant intermediate Charcot-Marie-Tooth disease type E ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Autosomal dominant intermediate Charcot-Marie-Tooth disease type E? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal dominant intermediate Charcot-Marie-Tooth disease type E. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Stage 5 chronic kidney disease 5% Areflexia - Autosomal dominant inheritance - Axonal loss - Distal lower limb amyotrophy - Distal muscle weakness - Distal sensory impairment - Distal upper limb amyotrophy - Focal segmental glomerulosclerosis - Foot dorsiflexor weakness - Hammertoe - Hyporeflexia - Onion bulb formation - Pes cavus - Progressive - Proteinuria - Split hand - Steppage gait - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to Stargardt macular degeneration ?"}, {"role": "assistant", "content": "In most cases, Stargardt macular degeneration is caused by mutations in the ABCA4 gene. Less often, mutations in the ELOVL4 gene cause this condition. The ABCA4 and ELOVL4 genes provide instructions for making proteins that are found in light-sensing (photoreceptor) cells in the retina. The ABCA4 protein transports potentially toxic substances out of photoreceptor cells. These substances form after phototransduction, the process by which light entering the eye is converted into electrical signals that are transmitted to the brain. Mutations in the ABCA4 gene prevent the ABCA4 protein from removing toxic byproducts from photoreceptor cells. These toxic substances build up and form lipofuscin in the photoreceptor cells and the surrounding cells of the retina, eventually causing cell death. Loss of cells in the retina causes the progressive vision loss characteristic of Stargardt macular degeneration. The ELOVL4 protein plays a role in making a group of fats called very long-chain fatty acids. The ELOVL4 protein is primarily active (expressed) in the retina, but is also expressed in the brain and skin. The function of very long-chain fatty acids within the retina is unknown. Mutations in the ELOVL4 gene lead to the formation of ELOVL4 protein clumps (aggregates) that build up and may interfere with retinal cell functions, ultimately leading to cell death.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is thrombotic thrombocytopenic purpura inherited ?"}, {"role": "assistant", "content": "The familial form of thrombotic thrombocytopenic purpura is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. The acquired form of thrombotic thrombocytopenic purpura is not inherited.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Multiple familial trichoepithelioma inherited ?"}, {"role": "assistant", "content": "How is multiple familial trichoepithelioma inherited? Susceptibility to multiple familial trichoepithelioma has an autosomal dominant pattern of inheritance. This means that one copy of the altered gene in each cell increases the risk that a person will develop the condition. However, a second, non-inherited mutation is needed for development of the skin tumors characteristic of this condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to alpha-mannosidosis ?"}, {"role": "assistant", "content": "Mutations in the MAN2B1 gene cause alpha-mannosidosis. This gene provides instructions for making the enzyme alpha-mannosidase. This enzyme works in the lysosomes, which are compartments that digest and recycle materials in the cell. Within lysosomes, the enzyme helps break down complexes of sugar molecules (oligosaccharides) attached to certain proteins (glycoproteins). In particular, alpha-mannosidase helps break down oligosaccharides containing a sugar molecule called mannose. Mutations in the MAN2B1 gene interfere with the ability of the alpha-mannosidase enzyme to perform its role in breaking down mannose-containing oligosaccharides. These oligosaccharides accumulate in the lysosomes and cause cells to malfunction and eventually die. Tissues and organs are damaged by the abnormal accumulation of oligosaccharides and the resulting cell death, leading to the characteristic features of alpha-mannosidosis.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Chiari malformation ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Chiari malformation? The Human Phenotype Ontology provides the following list of signs and symptoms for Chiari malformation. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Areflexia of upper limbs - Arnold-Chiari type I malformation - Autosomal dominant inheritance - Babinski sign - Basilar impression - Diplopia - Dysarthria - Dysphagia - Gait ataxia - Headache - Hearing impairment - Hyperacusis - Limb muscle weakness - Lower limb hyperreflexia - Lower limb spasticity - Nystagmus - Paresthesia - Photophobia - Scoliosis - Small flat posterior fossa - Syringomyelia - Tinnitus - Unsteady gait - Urinary incontinence - Vertigo - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to STING-associated vasculopathy with onset in infancy ?"}, {"role": "assistant", "content": "SAVI is caused by mutations in the TMEM173 gene. This gene provides instructions for making a protein called STING, which is involved in immune system function. STING helps produce beta-interferon, a member of a class of proteins called cytokines that promote inflammation. The TMEM173 gene mutations that cause SAVI are described as \"gain-of-function\" mutations because they enhance the activity of the STING protein, leading to overproduction of beta-interferon. Abnormally high beta-interferon levels cause excessive inflammation that results in tissue damage, leading to the signs and symptoms of SAVI.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Alstrm syndrome ?"}, {"role": "assistant", "content": "Alstrm syndrome is a rare condition that affects many body systems. Many of the signs and symptoms of this condition begin in infancy or early childhood, although some appear later in life. Alstrm syndrome is characterized by a progressive loss of vision and hearing, a form of heart disease that enlarges and weakens the heart muscle (dilated cardiomyopathy), obesity, type 2 diabetes mellitus (the most common form of diabetes), and short stature. This disorder can also cause serious or life-threatening medical problems involving the liver, kidneys, bladder, and lungs. Some individuals with Alstrm syndrome have a skin condition called acanthosis nigricans, which causes the skin in body folds and creases to become thick, dark, and velvety. The signs and symptoms of Alstrm syndrome vary in severity, and not all affected individuals have all of the characteristic features of the disorder.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Bladder cancer ?"}, {"role": "assistant", "content": "Bladder cancer is a form of cancer that occurs due to abnormal and uncontrolled cell growth in the bladder. Signs and symptoms of the condition may include abdominal pain, blood in the urine, fatigue, painful urination, frequent urination, incontinence, and/or weightloss. Most cases of bladder cancer occur sporadically in people with no family history of the condition. Risk factors for the condition include smoking, exposure to certain chemicals, and having chronic bladder infections. Treatment varies based on the severity of the condition and may include surgery, radiation therapy, chemotherapy, and/or biological therapy.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for oculocutaneous albinism ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of oculocutaneous albinism: - Gene Review: Gene Review: Oculocutaneous Albinism Type 1 - Gene Review: Gene Review: Oculocutaneous Albinism Type 2 - Gene Review: Gene Review: Oculocutaneous Albinism Type 4 - Genetic Testing Registry: Oculocutaneous albinism - MedlinePlus Encyclopedia: Albinism These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Who is at risk for Parasites - Toxocariasis (also known as Roundworm Infection)? ?"}, {"role": "assistant", "content": "Infected dogs and cats shed Toxocara eggs in their feces into the environment. Once in the environment, it takes 2 to 4 weeks for Toxocara larvae to develop and for the eggs to become infectious. Humans or other animals can be infected by accidentally ingesting Toxocara eggs. For example, humans can become infected if they work with dirt and accidentally ingest dirt containing Toxocara eggs. Although rare, people can be infected by eating undercooked or raw meat from an infected animal such as a lamb or rabbit. Because dogs and cats are frequently found where people live, there may be large numbers of infected eggs in the environment. Once in the body, the Toxocara eggs hatch and roundworm larvae can travel in the bloodstream to different parts of the body, including the liver, heart, lungs, brain, muscles, or eyes. Most infected people do not have any symptoms. However, in some people, the Toxocara larvae can cause damage to these tissues and organs. The symptoms of toxocariasis, the disease caused by these migrating larvae, include fever, coughing, inflammation of the liver, or eye problems.\n \nA U.S. study in 1996 showed that 30% of dogs younger than 6 months deposit Toxocara eggs in their feces; other studies have shown that almost all puppies are born already infected with Toxocara canis. Research also suggests that 25% of all cats are infected with Toxocara cati. Infection rates are higher for dogs and cats that are left outside for more time and allowed to eat other animals. In humans, it has been found that almost 14% of the U.S. population has been infected with Toxocara. Globally, toxocariasis is found in many countries, and prevalence rates can reach as high as 40% or more in parts of the world. There are several factors that have been associated with higher rates of infection with Toxocara. People are more likely to be infected with Toxocara if they own a dog. Children and adolescents under the age of 20 are more likely to test positive for Toxocara infection. This may be because children are more likely to eat dirt and play in outdoor environments, such as sandboxes, where dog and cat feces can be found. This infection is more common in people living in poverty. Geographic location plays a role as well, because Toxocara is more prevalent in hot, humid regions where eggs are kept viable in the soil.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Gastric lymphoma ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Gastric lymphoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Gastric lymphoma. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Gastric lymphoma - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) mevalonate kinase deficiency ?"}, {"role": "assistant", "content": "Mevalonate kinase deficiency is a condition characterized by recurrent episodes of fever, which typically begin during infancy. Each episode of fever lasts about 3 to 6 days, and the frequency of the episodes varies among affected individuals. In childhood the fevers seem to be more frequent, occurring as often as 25 times a year, but as the individual gets older the episodes occur less often. Mevalonate kinase deficiency has additional signs and symptoms, and the severity depends on the type of the condition. There are two types of mevalonate kinase deficiency: a less severe type called hyperimmunoglobulinemia D syndrome (HIDS) and a more severe type called mevalonic aciduria (MVA). During episodes of fever, people with HIDS typically have enlargement of the lymph nodes (lymphadenopathy), abdominal pain, joint pain, diarrhea, skin rashes, and headache. Occasionally they will have painful sores called aphthous ulcers around their mouth. In females, these may also occur around the vagina. A small number of people with HIDS have intellectual disability, problems with movement and balance (ataxia), eye problems, and recurrent seizures (epilepsy). Rarely, people with HIDS develop a buildup of protein deposits (amyloidosis) in the kidneys that can lead to kidney failure. Fever episodes in individuals with HIDS can be triggered by vaccinations, surgery, injury, or stress. Most people with HIDS have abnormally high levels of immune system proteins called immunoglobulin D (IgD) and immunoglobulin A (IgA) in the blood. It is unclear why people with HIDS have high levels of IgD and IgA. Elevated levels of these immunoglobulins do not appear to cause any signs or symptoms. Individuals with HIDS do not have any signs and symptoms of the condition between fever episodes and typically have a normal life expectancy. People with MVA have signs and symptoms of the condition at all times, not just during episodes of fever. Affected children have developmental delay, progressive ataxia, progressive problems with vision, and failure to gain weight and grow at the expected rate (failure to thrive). Individuals with MVA typically have an unusually small, elongated head. In childhood or adolescence, affected individuals may develop eye problems such as inflammation of the eye (uveitis), a blue tint in the white part of the eye (blue sclera), an eye disorder called retinitis pigmentosa that causes vision loss, or clouding of the lens of the eye (cataracts). Affected adults may have short stature and may develop muscle weakness (myopathy) later in life. During fever episodes, people with MVA may have an enlarged liver and spleen (hepatosplenomegaly), lymphadenopathy, abdominal pain, diarrhea, and skin rashes. Children with MVA who are severely affected with multiple problems may live only into early childhood; mildly affected individuals may have a normal life expectancy.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) 1q21.1 microdeletion ?"}, {"role": "assistant", "content": "1q21.1 microdeletion is a chromosomal change in which a small piece of chromosome 1 is deleted in each cell. The deletion occurs on the long (q) arm of the chromosome in a region designated q21.1. This chromosomal change increases the risk of delayed development, intellectual disability, physical abnormalities, and neurological and psychiatric problems. However, some people with a 1q21.1 microdeletion do not appear to have any associated features. About 75 percent of all children with a 1q21.1 microdeletion have delayed development, particularly affecting the development of motor skills such as sitting, standing, and walking. The intellectual disability and learning problems associated with this genetic change are usually mild. Distinctive facial features can also be associated with 1q21.1 microdeletions. The changes are usually subtle and can include a prominent forehead; a large, rounded nasal tip; a long space between the nose and upper lip (philtrum); and a high, arched roof of the mouth (palate). Other common signs and symptoms of 1q21.1 microdeletions include an unusually small head (microcephaly), short stature, and eye problems such as clouding of the lenses (cataracts). Less frequently, 1q21.1 microdeletions are associated with heart defects, abnormalities of the genitalia or urinary system, bone abnormalities (particularly in the hands and feet), and hearing loss. Neurological problems that have been reported in people with a 1q21.1 microdeletion include seizures and weak muscle tone (hypotonia). Psychiatric or behavioral problems affect a small percentage of people with this genetic change. These include developmental conditions called autism spectrum disorders that affect communication and social interaction, attention deficit hyperactivity disorder (ADHD), and sleep disturbances. Studies suggest that deletions of genetic material from the 1q21.1 region may also be risk factors for schizophrenia. Some people with a 1q21.1 microdeletion do not have any of the intellectual, physical, or psychiatric features described above. In these individuals, the microdeletion is often detected when they undergo genetic testing because they have a relative with the chromosomal change. It is unknown why 1q21.1 microdeletions cause cognitive and physical changes in some individuals but few or no health problems in others, even within the same family.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Dowling-Degos disease ?"}, {"role": "assistant", "content": "Dowling-Degos disease is a skin condition characterized by a lacy or net-like (reticulate) pattern of abnormally dark skin coloring (hyperpigmentation), particularly in the body's folds and creases. These skin changes typically first appear in the armpits and groin area and can later spread to other skin folds such as the crook of the elbow and back of the knee. Less commonly, pigmentation changes can also occur on the wrist, back of the hand, face, scalp, scrotum (in males), and vulva (in females). These areas of hyperpigmentation do not darken with exposure to sunlight and cause no health problems. Individuals with Dowling-Degos disease may also have dark lesions on the face and back that resemble blackheads, red bumps around the mouth that resemble acne, or depressed or pitted scars on the face similar to acne scars but with no history of acne. Cysts within the hair follicle (pilar cysts) may develop, most commonly on the scalp. Rarely, affected individuals have patches of skin that are unusually light in color (hypopigmented). The pigmentation changes characteristic of Dowling-Degos disease typically begin in late childhood or in adolescence, although in some individuals, features of the condition do not appear until adulthood. New areas of hyperpigmentation tend to develop over time, and the other skin lesions tend to increase in number as well. While the skin changes caused by Dowling-Degos disease can be bothersome, they typically cause no health problems. A condition called Galli-Galli disease has signs and symptoms similar to those of Dowling-Degos disease. In addition to pigmentation changes, individuals with Galli-Galli disease also have a breakdown of cells in the outer layer of skin (acantholysis). Acantholysis can cause skin irritation and itchiness. These conditions used to be considered two separate disorders, but Galli-Galli disease and Dowling-Degos disease are now regarded as the same condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) What I need to know about Kidney Failure and How Its Treated ?"}, {"role": "assistant", "content": "A kidney transplant places a healthy kidney from another person into your body. The kidney may come from someone who has just died. Your doctor will place your name on a waiting list for a kidney. A family member or friend might be able to give you a kidney. Then you dont have to wait.\n \nOnce it is placed inside your body, the new kidney takes over filtering your blood. The damaged kidneys usually stay where they are. The new kidney is placed in the front-lower abdomen, on one side of the bladder. Your body normally attacks anything that shouldnt be there, such as bacteria. The body will think the new kidney shouldnt be there. You will take medicines called immunosuppressants to keep your body from attacking the new kidney.\n \nMore information is provided in the NIDDK health topics:\n \n- Treatment Methods for Kidney Failure: Hemodialysis - Home Hemodialysis - Treatment Methods for Kidney Failure: Peritoneal Dialysis - Treatment Methods for Kidney Failure: Transplantation", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Succinic acidemia ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Succinic acidemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Succinic acidemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Lactic acidosis - Respiratory distress - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Subcortical band heterotopia ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Subcortical band heterotopia? The Human Phenotype Ontology provides the following list of signs and symptoms for Subcortical band heterotopia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Seizures 90% Hypertonia 50% Muscular hypotonia 50% Agenesis of corpus callosum - Ataxia - Death in infancy - Dysarthria - Incomplete penetrance - Infantile onset - Intellectual disability - Lissencephaly - Micropenis - Motor delay - Muscular hypotonia of the trunk - Nystagmus - Pachygyria - Postnatal growth retardation - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for alpha thalassemia ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of alpha thalassemia: - Gene Review: Gene Review: Alpha-Thalassemia - Genetic Testing Registry: alpha Thalassemia - MedlinePlus Encyclopedia: Thalassemia - University of California, San Francisco Fetal Treatment Center: Stem Cell Treatments These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Smith-Magenis syndrome inherited ?"}, {"role": "assistant", "content": "Smith-Magenis syndrome is typically not inherited. This condition usually results from a genetic change that occurs during the formation of reproductive cells (eggs or sperm) or in early fetal development. Most often, people with Smith-Magenis syndrome have no history of the condition in their family.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Schizencephaly ?"}, {"role": "assistant", "content": "Schizencephaly is a rare congenital (present from birth) brain malformation in which abnormal slits or clefts form in the cerebral hemispheres of the brain. The signs and symptoms of this condition may include developmental delay, seizures, and problems with brain-spinal cord communication. Affected people may also have an abnormally small head (microcephaly); hydrocephalus; intellectual disability; partial or complete paralysis; and/or poor muscle tone (hypotonia). Severity of symptoms depends on many factors including the extent of the clefting and whether or not other brain abnormalities are present. Although the exact cause of schizencephaly is unknown, it has been linked to a variety of genetic and non-genetic factors. Treatment generally consists of physical therapy and drugs to prevent seizures. In cases that are complicated by hydrocephalus, a surgically implanted tube, called a shunt, is often used to divert fluid to another area of the body where it can be absorbed.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Kidney Disease ?"}, {"role": "assistant", "content": "Dialysis is a treatment to filter wastes and water from your blood. There are two major forms of dialysis: hemodialysis and peritoneal dialysis. (Watch the video to learn more about dialysis. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.) In hemodialysis, blood is run through a filter outside of your body and the clean blood is returned to the body. Hemodialysis is usually done at a dialysis center three times a week, but it can also be done at home. Each session usually lasts between three and four hours. Peritoneal dialysis is another way to remove wastes from your blood. This kind of dialysis uses the lining of your abdominal cavity (the space in your body that holds organs like the stomach, intestines, and liver) to filter your blood. It works by putting a special fluid into your abdomen that absorbs waste products in your blood as it passes through small blood vessels in this lining. This fluid is then drained away. A key benefit of peritoneal dialysis is that it can be done at home, while you sleep. Get more information about dialysis.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to Brooke-Spiegler syndrome ?"}, {"role": "assistant", "content": "Brooke-Spiegler syndrome is caused by mutations in the CYLD gene. This gene provides instructions for making a protein that helps regulate nuclear factor-kappa-B. Nuclear factor-kappa-B is a group of related proteins that help protect cells from self-destruction (apoptosis) in response to certain signals. In regulating the action of nuclear factor-kappa-B, the CYLD protein allows cells to respond properly to signals to self-destruct when appropriate, such as when the cells become abnormal. By this mechanism, the CYLD protein acts as a tumor suppressor, which means that it helps prevent cells from growing and dividing too fast or in an uncontrolled way. People with Brooke-Spiegler syndrome are born with a mutation in one of the two copies of the CYLD gene in each cell. This mutation prevents the cell from making functional CYLD protein from the altered copy of the gene. However, enough protein is usually produced from the other, normal copy of the gene to regulate cell growth effectively. For tumors to develop, a second mutation or deletion of genetic material involving the other copy of the CYLD gene must occur in certain cells during a person's lifetime. When both copies of the CYLD gene are mutated in a particular cell, that cell cannot produce any functional CYLD protein. The loss of this protein allows the cell to grow and divide in an uncontrolled way to form a tumor. In people with Brooke-Spiegler syndrome, a second CYLD mutation typically occurs in multiple cells over an affected person's lifetime. The loss of CYLD protein in different types of cells in the skin leads to the growth of a variety of skin appendage tumors. Some researchers consider Brooke-Spiegler syndrome and two related conditions called multiple familial trichoepithelioma and familial cylindromatosis, which are also caused by CYLD gene mutations, to be different forms of the same disorder. It is unclear why mutations in the CYLD gene cause different patterns of skin appendage tumors in each of these conditions, or why the tumors are generally confined to the skin in these disorders.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Hereditary endotheliopathy, retinopathy, nephropathy, and stroke ?"}, {"role": "assistant", "content": "Hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS) is a rare genetic condition that affects the vascular endothelium (the inner lining of the arteries and blood vessels). Specifically, the small blood vessels of the brain (microangiopathy); retina (vascular retinopathy); and kidneys are affected. Signs and symptoms may include progressive adult onset vision loss, psychiatric disturbances, stroke-like episodes, neurologic decline, and kidney disease. HERNS is inherited in an autosomal dominant manner. The term retinal vasculopathy with cerebral leukodystrophy (RVCL) has recently been adopted to include HERNS; cerebroretinal vasculopathy (CRV); and hereditary vascular retinopathy (HVR); historically, these 3 conditions have been considered distinct. Genetic studies have shown that these 3 conditions are likely variations of RVCL and are caused by mutations in the TREX1 gene.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Leber hereditary optic neuropathy ?"}, {"role": "assistant", "content": "Leber hereditary optic neuropathy (LHON) is an inherited form of vision loss. Although this condition usually begins in a person's teens or twenties, rare cases may appear in early childhood or later in adulthood. For unknown reasons, males are affected much more often than females. Blurring and clouding of vision are usually the first symptoms of LHON. These vision problems may begin in one eye or simultaneously in both eyes; if vision loss starts in one eye, the other eye is usually affected within several weeks or months. Over time, vision in both eyes worsens with a severe loss of sharpness (visual acuity) and color vision. This condition mainly affects central vision, which is needed for detailed tasks such as reading, driving, and recognizing faces. Vision loss results from the death of cells in the nerve that relays visual information from the eyes to the brain (the optic nerve). Although central vision gradually improves in a small percentage of cases, in most cases the vision loss is profound and permanent. Vision loss is typically the only symptom of LHON; however, some families with additional signs and symptoms have been reported. In these individuals, the condition is described as \"LHON plus.\" In addition to vision loss, the features of LHON plus can include movement disorders, tremors, and abnormalities of the electrical signals that control the heartbeat (cardiac conduction defects). Some affected individuals develop features similar to multiple sclerosis, which is a chronic disorder characterized by muscle weakness, poor coordination, numbness, and a variety of other health problems.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Mnire's disease ?"}, {"role": "assistant", "content": "How is Mnire's disease diagnosed? The hallmark of Mnire's disease is the fluctuation, waxing and waning of symptoms. Proper diagnosis of Mnire's disease entails several procedures, including a medical history interview; a physical examination; hearing and balance tests; and medical imaging with magnetic resonance imaging (MRI). Accurate measurement and characterization of hearing loss are of critical importance in the diagnosis of Mnire's disease. Through the use of several types of hearing tests, physicians can characterize hearing loss as being sensory (arising from the inner ear) or neural (arising from the hearing nerve). Recording the auditory brain stem response, which measures electrical activity in the hearing nerve and brain stem, is useful in differentiating between these two types of hearing loss. Electrocochleography, recording the electrical activity of the inner ear in response to sound, helps confirm the diagnosis. To test the vestibular or balance system, physicians irrigate the ears with warm and cool water or air. This procedure, known as caloric testing, results in nystagmus, rapid eye movements that can help a physician analyze a balance disorder. Since tumor growth can produce symptoms similar to Mnire's disease, an MRI is a useful test to determine whether a tumor is causing the patient's vertigo and hearing loss.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Freeman-Sheldon syndrome inherited ?"}, {"role": "assistant", "content": "Freeman-Sheldon syndrome can have different inheritance patterns. In some cases, the condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. The condition can also have an autosomal recessive inheritance pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. In some cases, the inheritance pattern is unknown.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is microcephaly-capillary malformation syndrome inherited ?"}, {"role": "assistant", "content": "This condition has an autosomal recessive pattern of inheritance, which means both copies of the STAMBP gene in each cell have mutations. An affected individual usually inherits one altered copy of the gene from each parent. Parents of an individual with an autosomal recessive condition typically do not show signs and symptoms of the condition. At least one individual with microcephaly-capillary malformation syndrome inherited two mutated copies of the STAMBP gene through a mechanism called uniparental isodisomy. In this case, an error occurred during the formation of egg or sperm cells, and the child received two copies of the mutated gene from one parent instead of one copy from each parent.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Oto-palato-digital syndrome type 1 ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Oto-palato-digital syndrome type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Oto-palato-digital syndrome type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the nose 90% Cleft palate 90% Hearing impairment 90% Hypertelorism 90% Limitation of joint mobility 90% Prominent supraorbital ridges 90% Reduced number of teeth 90% Sandal gap 90% Short hallux 90% Abnormality of frontal sinus 50% Aplasia/Hypoplasia of the thumb 50% Bowing of the long bones 50% Brachydactyly syndrome 50% Craniofacial hyperostosis 50% Elbow dislocation 50% Increased bone mineral density 50% Proximal placement of thumb 50% Short distal phalanx of finger 50% Synostosis of carpal bones 7.5% Tarsal synostosis 7.5% Abnormality of the fifth metatarsal bone - Absent frontal sinuses - Accessory carpal bones - Bipartite calcaneus - Broad distal phalanx of the thumb - Broad hallux - Bulbous tips of toes - Capitate-hamate fusion - Conductive hearing impairment - Coxa valga - Delayed closure of the anterior fontanelle - Dislocated radial head - Flat face - Frontal bossing - Hip dislocation - Intellectual disability, mild - Lateral femoral bowing - Limited elbow extension - Limited knee flexion - Malar flattening - Multiple impacted teeth - Nail dysplasia - Nail dystrophy - Narrow mouth - Omphalocele - Pectus excavatum - Prominent occiput - Scoliosis - Selective tooth agenesis - Short 3rd metacarpal - Short 4th metacarpal - Short 5th metacarpal - Short nose - Short stature - Thick skull base - Toe syndactyly - Wide nasal bridge - X-linked dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Alagille Syndrome ?"}, {"role": "assistant", "content": "The digestive system is made up of the gastrointestinal (GI) tractalso called the digestive tractand the liver, pancreas, and gallbladder. The GI tract is a series of hollow organs joined in a long, twisting tube from the mouth to the anus. The hollow organs that make up the GI tract are the mouth, esophagus, stomach, small intestine, large intestinewhich includes the colon and rectumand anus. Food enters the mouth and passes to the anus through the hollow organs of the digestive system. The liver, pancreas, and gallbladder are the solid organs of the digestive system. The digestive system helps the body digest food.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation inherited ?"}, {"role": "assistant", "content": "LBSL is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. In this condition, each copy of the gene carries a different mutation (compound heterozygous mutations). An affected individual never has the same mutation in both copies of the gene (a homozygous mutation). The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is congenital diaphragmatic hernia inherited ?"}, {"role": "assistant", "content": "Isolated congenital diaphragmatic hernia is rarely inherited. In almost all cases, there is only one affected individual in a family. When congenital diaphragmatic hernia occurs as a feature of a genetic syndrome or chromosomal abnormality, it may cluster in families according to the inheritance pattern for that condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Nephrotic Syndrome in Adults ?"}, {"role": "assistant", "content": "Treating nephrotic syndrome includes addressing the underlying cause as well as taking steps to reduce high blood pressure, edema, high cholesterol, and the risks of infection. Treatment usually includes medications and changes in diet.\n \nMedications that lower blood pressure can also significantly slow the progression of kidney disease causing nephrotic syndrome. Two types of blood pressure lowering medications, angiotensin-converting enzyme (ACE) inhibitors and angiotensin receptor blockers (ARBs), have proven effective in slowing the progression of kidney disease by reducing the pressure inside the glomeruli and thereby reducing proteinuria. Many people require two or more medications to control their blood pressure. In addition to an ACE inhibitor or an ARB, a diuretica medication that aids the kidneys in removing fluid from the bloodcan also be useful in helping to reduce blood pressure as well as edema. Beta blockers, calcium channel blockers, and other blood pressure medications may also be needed.\n \nStatin medications may be given to lower cholesterol.\n \nPeople with nephrotic syndrome should receive the pneumococcal vaccine, which helps protect against a bacterium that commonly causes infection, and yearly flu shots.\n \nBlood thinning medications are usually only given to people with nephrotic syndrome who develop a blood clot; these medications are not used as a preventive measure.\n \nNephrotic syndrome may go away once the underlying cause has been treated. More information about treating the underlying causes of nephrotic syndrome is provided in the NIDDK health topic, Glomerular Diseases.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Mandibulofacial dysostosis with microcephaly inherited ?"}, {"role": "assistant", "content": "How is mandibulofacial dysostosis with microcephaly inherited? Mandibulofacial dysostosis with microcephaly (MFDM) is inherited in an autosomal dominant manner. This means that having one mutated copy of the responsible gene in each cell of the body is enough to cause signs and symptoms of the condition. When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit the mutated copy of the gene. Most cases of MFDM are due to new mutations that occur for the first time in the affected person (called de novo mutations), and are not inherited from a parent. In other cases, an affected person inherits the mutation from a parent. The parent may be mildly affected or may be unaffected. Sometimes, an unaffected parent has the mutation only in some or all of their sperm or egg cells (not their body cells), which is known as germline mosaicism.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Hypohidrotic ectodermal dysplasia ?"}, {"role": "assistant", "content": "Hypohidrotic ectodermal dysplasia (HED) is a genetic skin disease. Common symptoms include sparse scalp and body hair, reduced ability to sweat, and missing teeth. HED is caused by mutations in the EDA, EDAR, or EDARADD genes. It may be inherited in an X-linked recessive, autosomal recessive, or autosomal dominant manner depending on the genetic cause of the condition. The X-linked form is the most common form. The forms have similar signs and symptoms, however the the autosomal dominant form tends to be the mildest. Treatment of hypohidrotic ectodermal dysplasia may include special hair care formulas or wigs, measures to prevent overheating, removal of ear and nose concretions, and dental evaluations and treatment (e.g., restorations, dental implants, or dentures).", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Jejunal atresia ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Jejunal atresia? Signs and symptoms of jejunal atresia vary but may include: Feeding difficulties Failure to thrive Vomiting bile (a bitter-tasting yellowish-green fluid) Abdominal swelling, especially the upper middle part just below the breast bone Absence of bowel movements after birth The Human Phenotype Ontology provides the following list of signs and symptoms for Jejunal atresia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Jejunal atresia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to Lujan syndrome ?"}, {"role": "assistant", "content": "Lujan syndrome is caused by at least one mutation in the MED12 gene. This gene provides instructions for making a protein that helps regulate gene activity; it is involved in many aspects of early development. The MED12 gene mutation that causes Lujan syndrome changes a single protein building block (amino acid) in the MED12 protein. This genetic change alters the structure, and presumably the function, of the MED12 protein. However, it is unclear how the mutation affects development and leads to the cognitive and physical features of Lujan syndrome.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Sarcoidosis ?"}, {"role": "assistant", "content": "What causes sarcoidosis? No one yet knows what causes sarcoidosis. It is thought by most scientists to be a disorder of the immune system, where the body's natural defense system malfunctions. Some physicians believe that sarcoidosis may result from a respiratory infection caused by a virus. Others suspect that exposure to toxins or allergens in the environment is to blame. It's also possible that some people have a genetic predisposition to developing sarcoidosis, which, when combined with an environmental trigger, produces the disease. Studies are ongoing to investigate the genetic and environmental components of this disease.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Depression ?"}, {"role": "assistant", "content": "Depression is more than just feeling blue or sad. It is an illness. When you have depression, it interferes with daily life and normal functioning, and causes pain for both you and those who care about you.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Cardiomyopathy ?"}, {"role": "assistant", "content": "Some people who have cardiomyopathy never have signs or symptoms. Others don't have signs or symptoms in the early stages of the disease.\n \nAs cardiomyopathy worsens and the heart weakens, signs and symptoms of heart failure usually occur. These signs and symptoms include:\n \nShortness of breath or trouble breathing, especially with physical exertion\n \nFatigue (tiredness)\n \nSwelling in the ankles, feet, legs, abdomen, and veins in the neck\n \nOther signs and symptoms may include dizziness; light-headedness; fainting during physical activity; arrhythmias (irregular heartbeats); chest pain, especially after physical exertion or heavy meals; and heart murmurs. (Heart murmurs are extra or unusual sounds heard during a heartbeat.)", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Afibrinogenemia ?"}, {"role": "assistant", "content": "How might afibrinogenemia be treated? There is no known prevention or cure for afibrinogenemia. To treat bleeding episodes or to prepare for surgery to treat other conditions, patients may receive: The liquid portion of the blood (plasma) A blood product containing concentrated fibrinogen (cryoprecipitate) through a vein (transfusion) Prophylactic therapy should also be considered for patients with recurrent bleeding episodes, CNS hemorrhage, or during pregnancy for women with recurrent miscarriage. Individuals with afibrinogenemia should consider the following as part of their management plan: Consultation with a hematologist/hemostasis specialist, particularly for patients who require fibrinogen replacement therapy. Genetic counseling and family studies, especially for individuals with extensive family history or those considering pregnancy. Follow-up by a comprehensive bleeding disorder care team experienced in diagnosing and managing inherited bleeding disorders. Vaccination with the hepatitis B vaccine because transfusion increases the risk of hepatitis.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Onychodystrophy-anonychia ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Onychodystrophy-anonychia? The Human Phenotype Ontology provides the following list of signs and symptoms for Onychodystrophy-anonychia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Tapered distal phalanges of finger 5% Anonychia - Autosomal dominant inheritance - Congenital hip dislocation - Nail dysplasia - Nail dystrophy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by campomelic dysplasia ?"}, {"role": "assistant", "content": "The prevalence of campomelic dysplasia is uncertain; estimates range from 1 in 40,000 to 200,000 people.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by tumor necrosis factor receptor-associated periodic syndrome ?"}, {"role": "assistant", "content": "TRAPS has an estimated prevalence of one per million individuals; it is the second most common inherited recurrent fever syndrome, following a similar condition called familial Mediterranean fever. More than 1,000 people worldwide have been diagnosed with TRAPS.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is glycogen storage disease type V inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Dermatoleukodystrophy ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Dermatoleukodystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Dermatoleukodystrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Hyperkeratosis 90% Morphological abnormality of the central nervous system 90% Hyperreflexia 50% Abnormality of metabolism/homeostasis - Autosomal recessive inheritance - Large hands - Leukodystrophy - Long foot - Macrotia - Premature skin wrinkling - Progeroid facial appearance - Prominent nose - Thickened skin - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Churg Strauss syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Churg Strauss syndrome? The specific signs and symptoms of Churg Strauss syndrome (CSS) vary from person to person depending on the organ systems involved. The severity, duration and age of onset also vary. CSS is considered to have three distinct phases - prodromal (allergic), eosinophilic and vasculitic - which don't always occur sequentially. Some people do not develop all three phases. The prodromal (or allergic) phase is characterized by various allergic reactions. Affected people may develop asthma (including a cough, wheezing, and shortness of breath); hay fever (allergic rhinitis); and/or repeated episodes of sinusitis. This phase can last from months to many years. Most people develop asthma-like symptoms before any other symptoms. The eosinophilic phase is characterized by accumulation of eosinophils (a specific type of white blood cell) in various tissues of the body - especially the lungs, gastrointestinal tract and skin. The vasculitic phase is characterized by widespread inflammation of various blood vessels (vasculitis). Chronic vasculitis can cause narrowing of blood vessels, which can block or slow blood flow to organs. Inflamed blood vessels can also become thin and fragile (potentially rupturing) or develop a bulge (aneurysm). People with CSS often develop nonspecific symptoms including fatigue, fever, weight loss, night sweats, abdominal pain, and/or joint and muscle pain. Neurological symptoms (such as pain, tingling or numbness) are common and depend on the specific nerves involved. About half of affected people develop skin abnormalities due to accumulation of eosinophils in skin tissue. Symptoms of skin involvement may include purplish skin lesions, a rash with hives, and/or small bumps, especially on the elbows. Gastrointestinal involvement may cause various symptoms also. Heart problems may include inflammation of heart tissues and in severe cases, heart failure. The kidneys can also become involved, eventually causing glomerulonephritis. The Human Phenotype Ontology provides the following list of signs and symptoms for Churg Strauss syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of eosinophils 90% Asthma 90% Autoimmunity 90% Congestive heart failure 90% Polyneuropathy 90% Pulmonary infiltrates 90% Sinusitis 90% Subcutaneous hemorrhage 90% Urticaria 90% Vasculitis 90% Weight loss 90% Abdominal pain 50% Abnormality of the pericardium 50% Abnormality of the pleura 50% Arthralgia 50% Feeding difficulties in infancy 50% Gait disturbance 50% Hematuria 50% Hypertension 50% Hypertrophic cardiomyopathy 50% Hypopigmented skin patches 50% Nausea and vomiting 50% Skin rash 50% Thrombophlebitis 50% Abnormality of temperature regulation 7.5% Abnormality of the endocardium 7.5% Acrocyanosis 7.5% Arthritis 7.5% Cerebral ischemia 7.5% Coronary artery disease 7.5% Cranial nerve paralysis 7.5% Cutis marmorata 7.5% Glomerulopathy 7.5% Hemiplegia/hemiparesis 7.5% Hemoptysis 7.5% Intestinal obstruction 7.5% Malabsorption 7.5% Myalgia 7.5% Myositis 7.5% Nasal polyposis 7.5% Proteinuria 7.5% Pulmonary embolism 7.5% Renal insufficiency 7.5% Respiratory insufficiency 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Lissencephaly ?"}, {"role": "assistant", "content": "Lissencephaly, which literally means \"smooth brain,\" is a rare, gene-linked brain malformation characterized by the absence of normal convolutions (folds) in the cerebral cortex and an abnormally small head (microcephaly). In the usual condition of lissencephaly, children usually have a normal sized head at birth. In children with reduced head size at birth, the condition microlissencephaly is typically diagnosed. Lissencephaly is caused by defective neuronal migration during embryonic development, the process in which nerve cells move from their place of origin to their permanent location within the cerebral cortex gray matter. Symptoms of the disorder may include unusual facial appearance, difficulty swallowing, failure to thrive, muscle spasms, seizures, and severe psychomotor retardation. Hands, fingers, or toes may be deformed. Lissencephaly may be associated with other diseases including isolated lissencephaly sequence, Miller-Dieker syndrome, and Walker-Warburg syndrome. Sometimes it can be difficult to distinguish between these conditions clinically so consultation with national experts is recommended to help ensure correct diagnosis and possible molecular testing.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Parasites - Trichuriasis (also known as Whipworm Infection) ?"}, {"role": "assistant", "content": "Anthelminthic medications (drugs that rid the body of parasitic worms), such as albendazole and mebendazole, are the drugs of choice for treatment. Infections are generally treated for 3 days. The recommended medications are effective. Health care providers may decide to repeat a stool exam after treatment. Iron supplements may also be prescribed if the infected person suffers from anemia.\n \nMore on: Resources for Health Professionals: Treatment", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is rapid-onset dystonia parkinsonism inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ATP1A3 gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits a mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family. Not everyone who has an ATP1A3 mutation will ultimately develop the signs and symptoms of rapid-onset dystonia parkinsonism. It is unclear why some people with a gene mutation develop movement abnormalities and others do not.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Kuskokwim disease ?"}, {"role": "assistant", "content": "How might Kuskokwim disease be treated? Treatment for Kuskokwim disease depends on the nature and severity of signs and symptoms in each affected individual. There is currently no completely successful approach to treat arthrogryposis. The goals of treatment may include lower-limb alignment, establishing stability for ambulation (moving about) and improving upper-limb function for self-care. Many individuals with Kuskokwim disease are treated with leg braces and/or surgery and eventually are able to walk upright.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Occipital horn syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Occipital horn syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Occipital horn syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the fontanelles or cranial sutures 90% Cerebral calcification 90% Cognitive impairment 90% Exostoses 90% Hyperextensible skin 90% Joint hypermobility 90% Abnormality of the liver 50% Abnormality of the nose 50% Abnormality of the palate 50% Abnormality of the wrist 50% Aneurysm 50% Atypical scarring of skin 50% Brachydactyly syndrome 50% Bruising susceptibility 50% Elbow dislocation 50% Feeding difficulties in infancy 50% Hypothermia 50% Long philtrum 50% Muscular hypotonia 50% Narrow chest 50% Pectus carinatum 50% Pectus excavatum 50% Platyspondyly 50% Reduced bone mineral density 50% Synostosis of joints 50% Venous insufficiency 50% Abnormality of the fibula 7.5% Abnormality of the hip bone 7.5% Abnormality of the humerus 7.5% Abnormality of the pinna 7.5% Abnormality of the shoulder 7.5% Abnormality of the tibia 7.5% Bladder diverticulum 7.5% Coarse hair 7.5% Genu valgum 7.5% Hernia of the abdominal wall 7.5% High forehead 7.5% Kyphosis 7.5% Osteolysis 7.5% Pes planus 7.5% Recurrent urinary tract infections 7.5% Scoliosis 7.5% Bladder carcinoma - Broad clavicles - Broad ribs - Capitate-hamate fusion - Carotid artery tortuosity - Chronic diarrhea - Convex nasal ridge - Coxa valga - Hiatus hernia - High palate - Hydronephrosis - Joint laxity - Limited elbow extension - Limited knee extension - Long face - Long neck - Narrow face - Orthostatic hypotension - Osteoporosis - Pelvic bone exostoses - Persistent open anterior fontanelle - Redundant skin - Short clavicles - Short humerus - Soft skin - Ureteral obstruction - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by critical congenital heart disease ?"}, {"role": "assistant", "content": "Heart defects are the most common type of birth defect, accounting for more than 30 percent of all infant deaths due to birth defects. CCHD represents some of the most serious types of heart defects. About 7,200 newborns, or 18 per 10,000, in the United States are diagnosed with CCHD each year.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by guanidinoacetate methyltransferase deficiency ?"}, {"role": "assistant", "content": "Guanidinoacetate methyltransferase deficiency is a very rare disorder. About 80 affected individuals have been described in the medical literature. Of these, approximately one-third are of Portuguese origin.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Peutz-Jeghers syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Peutz-Jeghers syndrome? Peutz-Jeghers syndrome (PJS) is characterized primarily by an increased risk of growths along the lining of the gastrointestinal tract (called hamartomatous polyps) and certain types of cancer. Polyps are most commonly seen in the small intestines; however, they can also develop in the stomach, large intestines and other parts of the body such as the lungs, gall bladder, nose, and urinary bladder. Although these polyps are generally benign (noncancerous), they can be associated with many health problems including anemia, chronic bleeding, bowel obstruction, and intussusception. PJS-related polyps commonly present in adolescence or early adulthood with approximately a third of affected people experiencing symptoms in the first 10 years of life. People with PJS also have a high lifetime risk of developing cancer. Cancers of the gastrointestinal tract (stomach, small intestine, and colon), breast, pancreas, cervix, ovary, uterus and lungs are among the most commonly reported tumors. Medscape reference offers more specific information regarding the risks for these cancers and the average age of onset. Please click here to view this resource. Most affected people also have characteristic dark blue to dark brown macules around the mouth, eyes, and nostrils; near the anus (perianal); and on the inside of the cheeks (buccal mucosa). These spots may also occur on the hands and feet. They commonly appear during childhood and often fade as the person gets older. The Human Phenotype Ontology provides the following list of signs and symptoms for Peutz-Jeghers syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal pigmentation of the oral mucosa 90% Hypermelanotic macule 90% Intestinal polyposis 90% Lip hyperpigmentation 90% Melanocytic nevus 90% Abdominal pain 7.5% Abnormality of nail color 7.5% Biliary tract neoplasm 7.5% Esophageal neoplasm 7.5% Gastrointestinal hemorrhage 7.5% Gastrointestinal infarctions 7.5% Gynecomastia 7.5% Intestinal obstruction 7.5% Nasal polyposis 7.5% Nausea and vomiting 7.5% Neoplasm of the breast 7.5% Neoplasm of the colon 7.5% Neoplasm of the lung 7.5% Neoplasm of the pancreas 7.5% Neoplasm of the rectum 7.5% Neoplasm of the small intestine 7.5% Neoplasm of the stomach 7.5% Ovarian neoplasm 7.5% Renal neoplasm 7.5% Testicular neoplasm 7.5% Uterine neoplasm 7.5% Abnormality of the mouth - Abnormality of the ureter - Autosomal dominant inheritance - Biliary tract abnormality - Breast carcinoma - Clubbing of fingers - Gastrointestinal carcinoma - Hamartomatous polyposis - Intestinal bleeding - Intussusception - Iron deficiency anemia - Ovarian cyst - Precocious puberty with Sertoli cell tumor - Rectal prolapse - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Menkes disease ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Menkes disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Menkes disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair quantity 90% Abnormality of the palate 90% Aneurysm 90% Aplasia/Hypoplasia of the abdominal wall musculature 90% Developmental regression 90% Dry skin 90% Feeding difficulties in infancy 90% Full cheeks 90% Hyperextensible skin 90% Hypertonia 90% Hypopigmentation of hair 90% Intracranial hemorrhage 90% Joint hypermobility 90% Microcephaly 90% Muscular hypotonia 90% Pectus excavatum 90% Seizures 90% Umbilical hernia 90% Woolly hair 90% Abnormality of the carotid arteries 50% Abnormality of the liver 50% Arterial stenosis 50% Atypical scarring of skin 50% Behavioral abnormality 50% Cognitive impairment 50% Exostoses 50% Malabsorption 50% Mask-like facies 50% Muscle weakness 50% Narrow chest 50% Nausea and vomiting 50% Prominent occiput 50% Thickened skin 50% Venous insufficiency 50% Wormian bones 50% Bladder diverticulum 7.5% Bowing of the long bones 7.5% Chondrocalcinosis 7.5% Chorea 7.5% Gastrointestinal hemorrhage 7.5% Hypoglycemia 7.5% Hypothermia 7.5% Intrauterine growth retardation 7.5% Osteomyelitis 7.5% Recurrent fractures 7.5% Reduced bone mineral density 7.5% Sepsis 7.5% Spontaneous hematomas 7.5% Tarsal synostosis 7.5% Abnormality of the face - Brachycephaly - Cutis laxa - Death in childhood - Hypopigmentation of the skin - Intellectual disability - Joint laxity - Metaphyseal spurs - Metaphyseal widening - Osteoporosis - Short stature - Sparse hair - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Charcot-Marie-Tooth disease type 2J ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Charcot-Marie-Tooth disease type 2J? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 2J. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the eye - Abnormality of the respiratory system - Areflexia - Autosomal dominant inheritance - Axonal degeneration/regeneration - Distal muscle weakness - Distal sensory impairment - Dysphagia - Foot dorsiflexor weakness - Hyporeflexia - Peripheral demyelination - Pes cavus - Progressive sensorineural hearing impairment - Sensorineural hearing impairment - Steppage gait - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is the outlook for Batten Disease ?"}, {"role": "assistant", "content": "Over time, affected children suffer cognitive impairment, worsening seizures, and progressive loss of sight and motor skills. Eventually, children with Batten disease become blind, bedridden, and demented. Batten disease is often fatal by the late teens or twenties.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for enlarged parietal foramina ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of enlarged parietal foramina: - Gene Review: Gene Review: Enlarged Parietal Foramina - Genetic Testing Registry: Parietal foramina - Genetic Testing Registry: Parietal foramina 1 - Genetic Testing Registry: Parietal foramina 2 - MedlinePlus Encyclopedia: Skull of a Newborn These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Primary Familial Brain Calcification ?"}, {"role": "assistant", "content": "What causes primary familial brain calcification (PFBC)? PFBC is a genetic condition. Mutations in the SLC20A2 gene are thought to cause about half of the cases of PFBC. Mutations in the PDGFRB and PDGFB genes have also been shown to cause PFBC. In some cases, the genes responsible have not yet been found.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is paramyotonia congenita inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In many cases, an affected person has one parent with the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Patterned dystrophy of retinal pigment epithelium ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Patterned dystrophy of retinal pigment epithelium? The Human Phenotype Ontology provides the following list of signs and symptoms for Patterned dystrophy of retinal pigment epithelium. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Metamorphopsia 5% Nyctalopia 5% Photophobia 5% Autosomal dominant inheritance - Macular dystrophy - Reticular retinal dystrophy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is nonsyndromic paraganglioma inherited ?"}, {"role": "assistant", "content": "Nonsyndromic paraganglioma can be inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to increase the risk of developing a paraganglioma or pheochromocytoma. People with mutations in the gene inherit an increased risk of this condition, not the condition itself. Not all people with this condition have a mutation in the gene, and not all people with a gene mutation will develop the disorder. Most cases of nonsyndromic paraganglioma and pheochromocytoma are considered sporadic, which means the tumors occur in people with no history of the disorder in their family.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Do you have information about Herbal Medicine"}, {"role": "assistant", "content": "Summary : An herb is a plant or plant part used for its scent, flavor, or therapeutic properties. Herbal medicines are one type of dietary supplement. They are sold as tablets, capsules, powders, teas, extracts, and fresh or dried plants. People use herbal medicines to try to maintain or improve their health. Many people believe that products labeled \"natural\" are always safe and good for them. This is not necessarily true. Herbal medicines do not have to go through the testing that drugs do. Some herbs, such as comfrey and ephedra, can cause serious harm. Some herbs can interact with prescription or over-the-counter medicines. If you are thinking about using an herbal medicine, first get information on it from reliable sources. Make sure to tell your health care provider about any herbal medicines you are taking. NIH: National Center for Complementary and Integrative Health", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Severe achondroplasia with developmental delay and acanthosis nigricans ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Severe achondroplasia with developmental delay and acanthosis nigricans? The Human Phenotype Ontology provides the following list of signs and symptoms for Severe achondroplasia with developmental delay and acanthosis nigricans. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the femur 90% Abnormality of the sacroiliac joint 90% Bowing of the long bones 90% Brachydactyly syndrome 90% Cognitive impairment 90% Cutis laxa 90% Depressed nasal bridge 90% Macrocephaly 90% Malar flattening 90% Micromelia 90% Muscular hypotonia 90% Narrow chest 90% Platyspondyly 90% Respiratory insufficiency 90% Short stature 90% Short thorax 90% Skeletal dysplasia 90% Small face 90% Split hand 90% Aplasia/Hypoplasia of the lungs 50% Frontal bossing 50% Hearing impairment 50% Increased nuchal translucency 50% Kyphosis 50% Polyhydramnios 50% Proptosis 50% Ventriculomegaly 50% Abnormality of neuronal migration 7.5% Abnormality of the kidney 7.5% Acanthosis nigricans 7.5% Atria septal defect 7.5% Cloverleaf skull 7.5% Hydrocephalus 7.5% Limitation of joint mobility 7.5% Patent ductus arteriosus 7.5% Seizures 7.5% Autosomal dominant inheritance - Decreased fetal movement - Flared metaphysis - Heterotopia - Hypoplastic ilia - Intellectual disability, profound - Lethal short-limbed short stature - Metaphyseal irregularity - Neonatal death - Severe platyspondyly - Severe short stature - Short long bone - Short ribs - Short sacroiliac notch - Small abnormally formed scapulae - Small foramen magnum - Wide-cupped costochondral junctions - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) X-linked lissencephaly with abnormal genitalia ?"}, {"role": "assistant", "content": "X-linked lissencephaly with abnormal genitalia (XLAG) is a condition that affects the development of the brain and genitalia. It occurs most often in males. XLAG is characterized by abnormal brain development that results in the brain having a smooth appearance (lissencephaly) instead of its normal folds and grooves. Individuals without any folds in the brain (agyria) typically have more severe symptoms than people with reduced folds and grooves (pachygyria). Individuals with XLAG may also have a lack of development (agenesis) of the tissue connecting the left and right halves of the brain (corpus callosum). The brain abnormalities can cause severe intellectual disability and developmental delay, abnormal muscle stiffness (spasticity), weak muscle tone (hypotonia), and feeding difficulties. Starting soon after birth, babies with XLAG have frequent and recurrent seizures (epilepsy). Most children with XLAG do not survive past early childhood. Another key feature of XLAG in males is abnormal genitalia that can include an unusually small penis (micropenis), undescended testes (cryptorchidism), or external genitalia that do not look clearly male or clearly female (ambiguous genitalia). Additional signs and symptoms of XLAG include chronic diarrhea, periods of increased blood sugar (transient hyperglycemia), and problems with body temperature regulation.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Chromosome 19q13.11 deletion syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Chromosome 19q13.11 deletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Chromosome 19q13.11 deletion syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Clinodactyly of the 5th finger 90% Cognitive impairment 90% Decreased body weight 90% Displacement of the external urethral meatus 90% Intrauterine growth retardation 90% Microcephaly 90% Neurological speech impairment 90% Abnormal hair quantity 50% Abnormality of the eyelashes 50% Abnormality of the fingernails 50% Aplasia/Hypoplasia of the eyebrow 50% Broad columella 50% Cryptorchidism 50% Dry skin 50% Fine hair 50% Finger syndactyly 50% High forehead 50% Long face 50% Overlapping toe 50% Recurrent respiratory infections 50% Supernumerary nipple 50% Thin skin 50% Thin vermilion border 50% Toe syndactyly 50% Underdeveloped nasal alae 50% Abnormality of the hip bone 7.5% Bifid scrotum 7.5% Cataract 7.5% Hearing impairment 7.5% Microcornea 7.5% Ventricular septal defect 7.5% Wide mouth 7.5% Cutaneous finger syndactyly - Decreased subcutaneous fat - Failure to thrive - Feeding difficulties in infancy - Hypospadias - Intellectual disability - Low-set ears - Macrotia - Nail dysplasia - Postnatal growth retardation - Retrognathia - Short stature - Single umbilical artery - Sparse eyebrow - Sparse eyelashes - Sporadic - Wide intermamillary distance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Knobloch syndrome ?"}, {"role": "assistant", "content": "Knobloch syndrome is a rare condition characterized by severe vision problems and a skull defect. A characteristic feature of Knobloch syndrome is extreme nearsightedness (high myopia). In addition, several other eye abnormalities are common in people with this condition. Most affected individuals have vitreoretinal degeneration, which is breakdown (degeneration) of two structures in the eye called the vitreous and the retina. The vitreous is the gelatin-like substance that fills the eye, and the retina is the light-sensitive tissue at the back of the eye. Vitreoretinal degeneration often leads to separation of the retina from the back of the eye (retinal detachment). Affected individuals may also have abnormalities in the central area of the retina, called the macula. The macula is responsible for sharp central vision, which is needed for detailed tasks such as reading, driving, and recognizing faces. Due to abnormalities in the vitreous, retina, and macula, people with Knobloch syndrome often develop blindness in one or both eyes. Another characteristic feature of Knobloch syndrome is a skull defect called an occipital encephalocele, which is a sac-like protrusion of the brain (encephalocele) through a defect in the bone at the base of the skull (occipital bone). Some affected individuals have been diagnosed with a different skull defect in the occipital region, and it is unclear whether the defect is always a true encephalocele. In other conditions, encephaloceles may be associated with intellectual disability; however, most people with Knobloch syndrome have normal intelligence.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Lung Cancer ?"}, {"role": "assistant", "content": "Researchers continue to look at new ways to combine, schedule, and sequence the use of chemotherapy, surgery, and radiation to treat lung cancer. Targeted therapy, using drugs that go directly to a gene mutation and repair or block the mutation from causing cancer, are the current gold standard for treating some types of lung cancer. Get more information on current lung cancer research.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Immunodeficiency with hyper IgM type 1 ?"}, {"role": "assistant", "content": "What causes hyper IgM syndrome? A flawed gene (or genes) in T-cells (a type of white blood cell that is part of the immune system and helps the body fight diseases or harmful substances) is responsible for hyper IgM syndrome. The faulty T-cells do not give B-cells a signal they need to switch from making IgM to IgA and IgG. Most cases (approximately 70%) of hyper-IgM syndrome are linked to a recessive mutation on the X chromosome. These cases are inherited as an X-linked recessive genetic trait. Because males do not have a second, healthy, X-chromosome to offset the disease, boys far out number girls with this disease. A small number of cases of hyper IgM syndrome have been attributed to autosomal recessive and autosomal dominant genetic inheritance. In addition, a rare acquired form of the disorder has been described in the medical literature.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Anencephaly and spina bifida X-linked ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Anencephaly and spina bifida X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Anencephaly and spina bifida X-linked. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anencephaly - Spina bifida - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Sotos syndrome ?"}, {"role": "assistant", "content": "Sotos syndrome is a disorder characterized by a distinctive facial appearance, overgrowth in childhood, and learning disabilities or delayed development of mental and movement abilities. Characteristic facial features include a long, narrow face; a high forehead; flushed (reddened) cheeks; and a small, pointed chin. In addition, the outside corners of the eyes may point downward (down-slanting palpebral fissures). This facial appearance is most notable in early childhood. Affected infants and children tend to grow quickly; they are significantly taller than their siblings and peers and have an unusually large head. However, adult height is usually in the normal range. People with Sotos syndrome often have intellectual disability, and most also have behavioral problems. Frequent behavioral issues include attention deficit hyperactivity disorder (ADHD), phobias, obsessions and compulsions, tantrums, and impulsive behaviors. Problems with speech and language are also common. Affected individuals often have a stutter, a monotone voice, and problems with sound production. Additionally, weak muscle tone (hypotonia) may delay other aspects of early development, particularly motor skills such as sitting and crawling. Other signs and symptoms of Sotos syndrome can include an abnormal side-to-side curvature of the spine (scoliosis), seizures, heart or kidney defects, hearing loss, and problems with vision. Some infants with this disorder experience yellowing of the skin and whites of the eyes (jaundice) and poor feeding. A small percentage of people with Sotos syndrome have developed cancer, most often in childhood, but no single form of cancer occurs most frequently with this condition. It remains uncertain whether Sotos syndrome increases the risk of specific types of cancer. If people with this disorder have an increased cancer risk, it is only slightly greater than that of the general population.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to familial glucocorticoid deficiency ?"}, {"role": "assistant", "content": "Mutations in the MC2R, MRAP, and NNT genes account for the majority of cases of familial glucocorticoid deficiency; mutations in other genes, some known and some unidentified, can also cause this condition. The MC2R gene provides instructions for making a protein called adrenocorticotropic hormone (ACTH) receptor, which is found primarily in the adrenal glands. The protein produced from the MRAP gene transports the ACTH receptor from the interior of the cell to the cell membrane. When the ACTH receptor is embedded within the cell membrane, it is turned on (activated) by the MRAP protein. Activated ACTH receptor can then attach (bind) to ACTH, and this binding triggers the adrenal glands to produce glucocorticoids. MC2R gene mutations lead to the production of a receptor that cannot be transported to the cell membrane or, if it does get to the cell membrane, cannot bind to ACTH. MRAP gene mutations impair the transport of the ACTH receptor to the cell membrane. Without the binding of the ACTH receptor to its hormone, there is no signal to trigger the adrenal glands to produce glucocorticoids. The NNT gene provides instructions for making an enzyme called nicotinamide nucleotide transhydrogenase. This enzyme is found embedded in the inner membrane of structures called mitochondria, which are the energy-producing centers of cells. This enzyme helps produce a substance called NADPH, which is involved in removing potentially toxic molecules called reactive oxygen species that can damage DNA, proteins, and cell membranes. NNT gene mutations impair the enzyme's ability to produce NADPH, leading to an increase in reactive oxygen species in adrenal gland tissues. Over time, these toxic molecules can impair the function of adrenal gland cells and lead to their death (apoptosis), diminishing the production of glucocorticoids.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Primary carnitine deficiency ?"}, {"role": "assistant", "content": "Primary carnitine deficiency is a genetic condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). The nature and severity of signs and symptoms may vary, but they most often appear during infancy or early childhood and can include severe brain dysfunction (encephalopathy), cardiomyopathy, confusion, vomiting, muscle weakness, and hypoglycemia. Some individuals may only have fatigability in adulthood, or no symptoms at all. This condition is caused by mutations in the SLC22A5 gene and is inherited in an autosomal recessive manner. Treatment and prevention of symptoms typically includes oral L-carnitine supplementation.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Michels syndrome ?"}, {"role": "assistant", "content": "Michels syndrome is an extremely rare disorder characterized by the eyelid triad of blepharophimosis (a narrowing of the eye opening), blepharoptosis and epicanthus inversus (an upward fold of the skin of the lower eyelid near the inner corner of the eye), skeletal defects including craniosynostosis, cranial asymmetry, abnormality of the occipital bone (at the base of the skull), and radioulnar synostosis, cleft lip and palate, and mental deficiency. Only 10 cases have been reported in the medical literature. While the underlying cause of this condition remains unknown, it is believed to be transmitted as an autosomal recessive trait. Based on phenotypic overlap and autosomal recessive inheritance, some researchers have suggested that Michels, Malpuech, Carnevale and Mingarelli syndromes represent a spectrum and should be referred to a 3MC syndrome (for Malpuech-Michels-Mingarelli-Carnevale).", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by tubular aggregate myopathy ?"}, {"role": "assistant", "content": "Tubular aggregate myopathy is a rare disorder. Its prevalence is unknown.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Oculocutaneous albinism ?"}, {"role": "assistant", "content": "What treatments are available for oculocutaneous albinism? Individuals with oculocutaneous albinism should have annual skin examinations to check for skin damage or skin cancer and annual eye examination to check vision. Affected individuals should cover their skin from sun exposure by using sunscreen and wearing protective clothing such as long-sleeve shirts, long pants, and hats with wide brims. Glasses may be worn to reduce sensitivity to bright light or to improve vision. Additional therapies or surgery may be used to treat crossed eyes (strabismus) or rapid eye movements (nystagmus).", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of 1q21.1 microdeletion syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of 1q21.1 microdeletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for 1q21.1 microdeletion syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal nasal morphology 50% Abnormality of the palate 50% Cognitive impairment 50% Deeply set eye 50% Epicanthus 50% Frontal bossing 50% Long philtrum 50% Microcephaly 50% Short stature 50% Abnormality of the aorta 7.5% Abnormality of the cardiac septa 7.5% Abnormality of thumb phalanx 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Attention deficit hyperactivity disorder 7.5% Autism 7.5% Brachydactyly syndrome 7.5% Cataract 7.5% Chorioretinal coloboma 7.5% Clinodactyly of the 5th finger 7.5% Cryptorchidism 7.5% Hand polydactyly 7.5% Hernia of the abdominal wall 7.5% Hydrocephalus 7.5% Hypermetropia 7.5% Intrauterine growth retardation 7.5% Iris coloboma 7.5% Joint hypermobility 7.5% Muscular hypotonia 7.5% Patent ductus arteriosus 7.5% Preaxial foot polydactyly 7.5% Scoliosis 7.5% Seizures 7.5% Sensorineural hearing impairment 7.5% Short foot 7.5% Sleep disturbance 7.5% Strabismus 7.5% Talipes 7.5% Toe syndactyly 7.5% Vesicoureteral reflux 7.5% Autosomal dominant inheritance - Broad hallux - Broad thumb - Bulbous nose - Coarctation of aorta - Incomplete penetrance - Intellectual disability - Schizophrenia - Transposition of the great arteries - Truncus arteriosus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is 3-hydroxy-3-methylglutaryl-CoA lyase deficiency inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Dominant dystrophic epidermolysis bullosa inherited ?"}, {"role": "assistant", "content": "How is dominant dystrophic epidermolysis bullosa inherited? Dominant dystrophic epidermolysis bullosa (DDEB) has an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means that one copy of the gene with the mutation in each cell is sufficient to cause the disorder. About 70 percent of individuals with DDEB have inherited a COL7A1 mutation from an affected parent. The remaining 30 percent have the condition as a result of a new (de novo) mutation in the COL7A1 gene. These cases occur in people with no history of the disorder in their family. Regardless of whether an individual with an autosomal dominant condition has inherited the mutation or has a new mutation, each child of the affected individual has a 50% (1 in 2) chance of also having the condition, and a 50% chance of not having the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Type 1 plasminogen deficiency ?"}, {"role": "assistant", "content": "What causes plasminogen deficiency, type 1? Plasminogen deficiency, type 1 is caused by a mutation in a gene encoding plasminogen, an enzyme whose function is to dissolve fibrin clots. Fibrin clots form scabs at a wound site.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia? The Human Phenotype Ontology provides the following list of signs and symptoms for Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Facial palsy 5% Abnormality of pelvic girdle bone morphology - Amyotrophic lateral sclerosis - Autosomal dominant inheritance - Back pain - Difficulty climbing stairs - Distal amyotrophy - Dysphasia - Dystonia - Elevated alkaline phosphatase of bone origin - Elevated serum creatine phosphokinase - Frontal cortical atrophy - Frontotemporal dementia - Gait disturbance - Limb muscle weakness - Lumbar hyperlordosis - Myopathy - Pelvic girdle amyotrophy - Pelvic girdle muscle atrophy - Pelvic girdle muscle weakness - Proximal muscle weakness - Rimmed vacuoles - Scapular winging - Shoulder girdle muscle atrophy - Shoulder girdle muscle weakness - Temporal cortical atrophy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Spondylometaphyseal dysplasia Algerian type ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Spondylometaphyseal dysplasia Algerian type? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondylometaphyseal dysplasia Algerian type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Genu valgum 90% Micromelia 90% Myopia 90% Anterior rib cupping - Autosomal dominant inheritance - Bowed humerus - Carpal bone hypoplasia - Coxa vara - Flared femoral metaphysis - Hypoplasia of proximal radius - Hypoplastic pelvis - Kyphoscoliosis - Lumbar hyperlordosis - Metaphyseal dysplasia - Platyspondyly - Severe short stature - Short sacroiliac notch - Short tubular bones (hand) - Spondylometaphyseal dysplasia - Tibial metaphyseal irregularity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Gout ?"}, {"role": "assistant", "content": "Attacks Usually Start at Night Gout is a form of arthritis that causes sudden onset of intense pain and swelling in the joints, which also may be warm and red. Gout typically attacks one joint at a time, and the attacks usually begin at night. Where Gout Usually Occurs Gout normally attacks joints in the lower part of the body, such as the knee, ankle or big toe. For many people, the joints in the big toe are the first to be attacked. In fact, sometime during the course of the disease, many people will develop gout in the big toe. Other Signs and Symptoms These can include - hyperuricemia -- high levels of uric acid in the body hyperuricemia -- high levels of uric acid in the body - the presence of uric acid crystals in joint fluid the presence of uric acid crystals in joint fluid - more than one attack of acute arthritis more than one attack of acute arthritis - arthritis that develops in a day, producing a swollen, red, and warm joint arthritis that develops in a day, producing a swollen, red, and warm joint - an attack of arthritis in only one joint, often the toe, ankle, or knee. an attack of arthritis in only one joint, often the toe, ankle, or knee. Diagnosis May Be Difficult Gout may be difficult for doctors to diagnose because the symptoms can be vague, and gout often mimics other conditions. Although most people with gout have hyperuricemia at some time during the course of their disease, it may not be present during an acute attack. In addition, having hyperuricemia alone does not mean that a person will get gout. In fact, most people with hyperuricemia do not develop the disease. Testing for Gout To confirm a diagnosis of gout, the doctor inserts a needle into the inflamed joint and draws a sample of synovial fluid, the substance that lubricates a joint. A laboratory technician places some of the fluid on a slide and looks for monosodium urate crystals under a microscope. If crystals are found in the joint fluid, the person usually has gout.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Robinow syndrome ?"}, {"role": "assistant", "content": "Is genetic testing available for Robinow syndrome? Genetic testing for autosomal recessive Robinow syndrome and autosomal dominant Robinow syndrome is available. However, not all people diagnosed with either type of Robinow syndrome have mutations in the genes known to cause these conditions. In these cases, the cause remains unknown. Carrier testing for autosomal recessive Robinow syndrome is possible if the disease-causing mutations have been identified in an affected family member. The Genetic Testing Registry (GTR) provides information about the genetic tests for Robinow syndrome. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is 8p11 myeloproliferative syndrome inherited ?"}, {"role": "assistant", "content": "This condition is generally not inherited but arises from a mutation in the body's cells that occurs after conception. This alteration is called a somatic mutation.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Lipedema ?"}, {"role": "assistant", "content": "How might lipedema be treated? Treatment options for lipedema are limited. A number of therapies that have been tried with minimal success include dieting, diuretics, leg elevation, and compression. Invasive treatments such as lipectomy or liposuction are not recommended because they risk causing damage to the lymphatic system. While, compression therapy may not do much to improve the lipedema, it may help prevent worsening and progression to lymphedema (lipolymphedema).", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by Caffey disease ?"}, {"role": "assistant", "content": "Caffey disease has been estimated to occur in approximately 3 per 1,000 infants worldwide. A few hundred cases have been described in the medical literature. Researchers believe this condition is probably underdiagnosed because it usually goes away by itself in early childhood.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What to do for Autoimmune Hepatitis ?"}, {"role": "assistant", "content": "- Autoimmune hepatitis is a chronicor long lastingdisease in which the body's immune system attacks the liver and causes inflammation and damage. - Autoimmune hepatitis is a serious condition that may worsen over time if not treated. Autoimmune hepatitis can lead to cirrhosis and liver failure. - Autoimmune hepatitis is more common in females. The disease can occur at any age and affects all ethnic groups. - Autoimmune hepatitis is classified as type 1 or type 2. - A health care provider will make a diagnosis of autoimmune hepatitis based on symptoms, a physical exam, blood tests, and a liver biopsy. - A person usually needs blood tests for an exact diagnosis because a person with autoimmune hepatitis can have the same symptoms as those of other liver diseases or metabolic disorders. - Treatment for autoimmune hepatitis includes medication to suppress, or slow down, an overactive immune system. - Treatment works best when autoimmune hepatitis is diagnosed early. - People with autoimmune hepatitis generally respond to standard treatment and the disease can be controlled in most cases. - In some people, autoimmune hepatitis progresses to cirrhosis and end-stage liver failure, and a liver transplant may be necessary.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) High Blood Cholesterol ?"}, {"role": "assistant", "content": "A desirable level for total cholesterol is less than 200 mg/dL. Here are the ranges for total cholesterol levels. Do you know how your total cholesterol level compares?", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Nutrition for Early Chronic Kidney Disease in Adults ?"}, {"role": "assistant", "content": "MNT is the use of nutrition counseling by a registered dietitian to help promote a medical or health goal. A doctor may refer a patient to a registered dietitian to help with the patients food plan. Many insurance policies cover MNT when recommended by a doctor. Anyone who qualifies for Medicare can receive a benefit for MNT from a registered dietitian or nutrition professional when a doctor provides a referral indicating the person has diabetes or kidney disease.\n \nOne way to locate a qualified dietitian is to contact the American Dietetic Association at www.eatright.organd click on Find a Registered Dietitian. Users can enter their address or ZIP code for a list of dietitians in their area. A person looking for dietary advice to prevent kidney damage should click on Renal (Kidney) Nutrition in the specialty field. Dietitians who specialize in helping people with CKD are called renal dietitians.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by microphthalmia ?"}, {"role": "assistant", "content": "Microphthalmia occurs in approximately 1 in 10,000 individuals.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Erythromelalgia ?"}, {"role": "assistant", "content": "What treatment is available for erythromelalgia? There appear to be several subtypes of erythromelalgia and different subtypes respond to different therapies. Treatment consists of a trying various approaches until the best therapy is found. Patients respond quite variably to drug therapy and no single therapy has proved consistently effective. Spontaneous remissions have also been known to occur. Drugs shown to be effective in relieving pain in some individuals include: aspirin, prostaglandins (misoprostol), serotonin-norepinephrine reuptake inhibitors (venlafaxine and sertraline) and selective serotonin reuptake inhibitors (SSRIs), anticonvulsants (gabapentin), sodium channel blockers, carbamazepine, tricyclic antidepressants (amitriptyline and imipramine), calcium antagonists (nifedipine and diltiazem), magnesium, sodium nitroprusside infusion, and cyclosporine. Other treatments include: cooling or elevating the extremity, topical treatment with capsaicin cream, and surgical sympathectomy (a procedure where the sympathetic nerve fibers are selectively cut).Avoidance of triggers (such as warmth, prolonged standing, etc.) may reduce the number or severity of flare ups.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose EEC syndrome ?"}, {"role": "assistant", "content": "Is genetic testing available for EEC syndrome? It is estimated that greater than 90% of cases of EEC syndrome are caused by mutations in the TP63 gene. The remainder are suspected to be caused by different mutations in a region on chromosome 7. Genetic testing is available to detect both mutations in the TP63 gene and in the implicated region on chromosome 7. Genetic Testing Registry lists the names of laboratories that are performing genetic testing for EEC syndrome. To view the contact information for the clinical laboratories conducting testing click here. Testing for individuals with a family history of EEC syndrome who may have a mutation but do not exhibit signs and symptoms of the condition may be available if the mutation in the affected family member(s) is known. Prenatal diagnosis for pregnancies at risk may also be available if the mutation in the family is known. Please note that most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "what research (or clinical trials) is being done for Machado-Joseph Disease ?"}, {"role": "assistant", "content": "The NINDS supports research on Lyme disease. Current areas of interest include improving diagnostic tests and developing more effective treatments. The National Institute of Allergy and Infectious Diseases (NIAID), the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), and the National Center for Research Resources (NCRR), all parts of the National Institutes of Health (NIH), also support research on Lyme disease.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Diabetic mastopathy ?"}, {"role": "assistant", "content": "What are the symptoms of diabetic mastopathy? Common symptoms of diabetic mastopathy include hard, irregular, easily movable, discrete, painless breast mass(es). This condition can involve one or both breasts and can affect males and females. The breast lesions may not be palpable in some patients. Patients with diabetic mastopathy who have had insulin-requiring diabetes for a long time (>15 years) commonly have other diabetes complications as well (e.g., thyroid, eye, and joint involvement).", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by myoclonic epilepsy with ragged-red fibers ?"}, {"role": "assistant", "content": "MERRF is a rare condition; its prevalence is unknown. MERRF is part of a group of conditions known as mitochondrial disorders, which affect an estimated 1 in 5,000 people worldwide.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for alternating hemiplegia of childhood ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of alternating hemiplegia of childhood: - The Great Ormond Street Hospital - University of Utah School of Medicine These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Olivopontocerebellar atrophy ?"}, {"role": "assistant", "content": "Olivopontocerebellar atrophy (OPCA) is a progressive condition characterized by the degeneration of nerve cells (neurons) in specific areas of the brain. It occurs in several neurodegenerative diseases, including multiple system atrophy (MSA) and inherited and non-inherited forms of ataxia. OPCA may also occur in people with prion disorders and inherited metabolic diseases. The main symptom is clumsiness that slowly gets worse. Other symptoms may include problems with balance; speech or swallowing problems; difficulty walking; abnormal eye movements; muscle spasms; and neuropathy. Whether OPCA is inherited (and the inheritance pattern) depends on the underlying cause, if known. There is no cure for OPCA, and management aims to treat symptoms and prevent complications.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Who is at risk for What I need to know about Hepatitis B? ?"}, {"role": "assistant", "content": "Anyone can get hepatitis B, but those more likely to are people who\n \n- were born to a mother with hepatitis B - are in contact with blood, needles, or body fluids at work - live with someone who currently has an active hepatitis B infection - have had more than one sex partner in the last 6 months or have a history of sexually transmitted disease - are on kidney dialysisthe process of filtering wastes and extra water from the body by means other than the kidneys - are taking medicines that suppress the immune system, such as steroids or chemotherapy medicines - have lived in or travel often to parts of the world where hepatitis B is common - are from Asian and Pacific Island nations - are infected with HIV or hepatitis C - have injected illegal drugs - work or live in a prison - had a blood transfusion or organ transplant before the mid-1980s\n \nAlso, men who have sex with men are more likely to get hepatitis B.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is the outlook for Small Intestine Cancer ?"}, {"role": "assistant", "content": "Certain factors affect prognosis (chance of recovery) and treatment options.The prognosis (chance of recovery) and treatment options depend on the following: - The type of small intestine cancer. - Whether the cancer is in the inner lining of the small intestine only or has spread into or beyond the wall of the small intestine. - Whether the cancer has spread to other places in the body, such as the lymph nodes, liver, or peritoneum (tissue that lines the wall of the abdomen and covers most of the organs in the abdomen). - Whether the cancer can be completely removed by surgery. - Whether the cancer is newly diagnosed or has recurred.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Tuberous Sclerosis ?"}, {"role": "assistant", "content": "There is no cure for TSC, although treatment is available for a number of the symptoms. Rapamycin and related drugs are not yet approved by the U.S. Food and Drug Administration (FDA) for any purpose in individuals with TSC. The FDA has approved the drug everolimus (Afinitor) to treat subependymal giant cell astrocytomas (SEGA brain tumors) and angiomyolipoma kidney tumors. Antiepileptic drugs such as vigabatrin may be used to control seizures and medications may be prescribed for behavior problems. Intervention programs, including special schooling and occupational therapy, may benefit individuals with special needs and developmental issues. Surgery, including dermabrasion and laser treatment, may be useful for treatment of skin lesions. Because TSC is a lifelong condition, individuals need to be regularly monitored by a doctor. Due to the many varied symptoms of TSC, care by a clinician experienced with the disorder is recommended.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Pityriasis rubra pilaris ?"}, {"role": "assistant", "content": "Pityriasis rubra pilaris (PRP) refers to a group of skin conditions that cause constant inflammation and scaling of the skin. Affected people have reddish-orange colored patches; they may occur everywhere on the body or only on certain areas. There are several types of PRP, which are classified based on age of onset, body areas affected, and whether other associated conditions are present. PRP is usually sporadic (occurring randomly) but some forms may be inherited.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Oculomaxillofacial dysostosis ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Oculomaxillofacial dysostosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Oculomaxillofacial dysostosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the eyelashes 50% Abnormality of the teeth 50% Aplasia/Hypoplasia of the eyebrow 50% Cleft palate 50% Facial cleft 50% Median cleft lip 50% Opacification of the corneal stroma 50% Short stature 50% Underdeveloped nasal alae 50% Upslanted palpebral fissure 50% Wide nasal bridge 50% Abnormality of the humerus 7.5% Adducted thumb 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Brachydactyly syndrome 7.5% Camptodactyly of finger 7.5% Cognitive impairment 7.5% Coloboma 5% Deep palmar crease 5% Abnormality of the skeletal system - Autosomal recessive inheritance - Cleft upper lip - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Char syndrome ?"}, {"role": "assistant", "content": "Char syndrome is a condition that affects the development of the face, heart, and limbs. It is characterized by a combination of three major features: a distinctive facial appearance, a heart defect called patent ductus arteriosus, and hand abnormalities. Char syndrome is caused by mutations in the TFAP2B gene and is inherited in an autosomal dominant fashion.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Pinched Nerve ?"}, {"role": "assistant", "content": "The most frequently recommended treatment for pinched nerve is rest for the affected area. Nonsteroidal anti-inflammatory drugs (NSAIDs) or corticosteroids may be recommended to help alleviate pain. Physical therapy is often useful, and splints or collars may be used to relieve symptoms. Depending on the cause and severity of the pinched nerve, surgery may be needed.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Lenz microphthalmia syndrome inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Do you have information about Anabolic Steroids"}, {"role": "assistant", "content": "Summary : Anabolic steroids are man-made substances related to male sex hormones. Doctors use anabolic steroids to treat some hormone problems in men, delayed puberty, and muscle loss from some diseases. Bodybuilders and athletes often use anabolic steroids to build muscles and improve athletic performance. Using them this way is not legal or safe. Abuse of anabolic steroids has been linked with many health problems. They include - Acne - Breast growth and shrinking of testicles in men - Voice deepening and growth of facial hair in women - High blood pressure - Heart problems, including heart attack - Liver disease, including cancer - Kidney damage - Aggressive behavior NIH: National Institute on Drug Abuse", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Beare-Stevenson cutis gyrata syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Beare-Stevenson cutis gyrata syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Beare-Stevenson cutis gyrata syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the pancreas 90% Acanthosis nigricans 90% Aplasia/Hypoplasia of the earlobes 90% Choanal atresia 90% Depressed nasal bridge 90% Dolichocephaly 90% Hearing abnormality 90% Hypoplasia of the zygomatic bone 90% Macrotia 90% Malar flattening 90% Melanocytic nevus 90% Palmoplantar keratoderma 90% Proptosis 90% Ptosis 90% Reduced number of teeth 90% Respiratory insufficiency 90% Visceral angiomatosis 90% Bifid scrotum 50% Craniosynostosis 50% Abnormality of the nail 7.5% Anteverted nares 7.5% Cleft palate 7.5% Cryptorchidism 7.5% Hydrocephalus 7.5% Hypertelorism 7.5% Hypertension 7.5% Narrow mouth 7.5% Optic atrophy 7.5% Thickened helices 7.5% Umbilical hernia 7.5% Agenesis of corpus callosum - Anteriorly placed anus - Autosomal dominant inheritance - Choanal stenosis - Cloverleaf skull - Hypoplasia of midface - Limited elbow extension - Low-set, posteriorly rotated ears - Narrow palate - Palmoplantar cutis laxa - Preauricular skin furrow - Prominent scrotal raphe - Respiratory distress - Small nail - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for glycogen storage disease type IV ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of glycogen storage disease type IV: - Gene Review: Gene Review: Glycogen Storage Disease Type IV - Genetic Testing Registry: Glycogen storage disease, type IV - MedlinePlus Encyclopedia: Dilated Cardiomyopathy - MedlinePlus Encyclopedia: Failure to Thrive These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Familial joint instability syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Familial joint instability syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial joint instability syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the hip bone 90% Joint hypermobility 90% Patellar dislocation 90% Abnormality of the elbow 7.5% Abnormality of the femur 7.5% Abnormality of the shoulder 7.5% Hernia of the abdominal wall 7.5% Autosomal dominant inheritance - Congenital hip dislocation - Joint laxity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is 48,XXYY syndrome inherited ?"}, {"role": "assistant", "content": "This condition is not inherited; it usually occurs as a random event during the formation of reproductive cells (eggs and sperm). An error in cell division called nondisjunction results in a reproductive cell with an abnormal number of chromosomes. In 48,XXYY syndrome, the extra sex chromosomes almost always come from a sperm cell. Nondisjunction may cause a sperm cell to gain two extra sex chromosomes, resulting in a sperm cell with three sex chromosomes (one X and two Y chromosomes). If that sperm cell fertilizes a normal egg cell with one X chromosome, the resulting child will have two X chromosomes and two Y chromosomes in each of the body's cells. In a small percentage of cases, 48,XXYY syndrome results from nondisjunction of the sex chromosomes in a 46,XY embryo very soon after fertilization has occurred. This means that an normal sperm cell with one Y chromosome fertilized a normal egg cell with one X chromosome, but right after fertilization nondisjunction of the sex chromosomes caused the embryo to gain two extra sex chromosomes, resulting in a 48,XXYY embryo.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Charcot-Marie-Tooth disease ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Charcot-Marie-Tooth disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the pharynx 90% Abnormality of the voice 90% Decreased nerve conduction velocity 90% EMG abnormality 90% Gait disturbance 90% Hemiplegia/hemiparesis 90% Impaired pain sensation 90% Incoordination 90% Kyphosis 90% Laryngomalacia 90% Scoliosis 90% Skeletal muscle atrophy 90% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Do you have information about Tears"}, {"role": "assistant", "content": "Summary : You may only think of tears as those salty drops that fall from your eyes when you cry. Actually, your tears clean your eyes every time you blink. Tears also keep your eyes moist, which is important for your vision. Tear glands produce tears, and tear ducts carry the tears from the glands to the surface of your eye. Problems with the tear system can include too many tears, too few tears, or problems with the tear ducts. Treatment of the problem depends on the cause.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Dry Mouth ?"}, {"role": "assistant", "content": "People get dry mouth when the glands in the mouth that make saliva are not working properly. Because of this, there might not be enough saliva to keep your mouth healthy. There are several reasons why these glands, called salivary glands, might not work right. Medicines and Dry Mouth More than 400 medicines, including some over-the-counter medications, can cause the salivary glands to make less saliva, or to change the composition of the saliva so that it can't perform the functions it should. As an example, medicines for urinary incontinence, allergies, high blood pressure, and depression often cause dry mouth. Diseases That Can Cause Dry Mouth Some diseases can affect the salivary glands. Dry mouth can occur in patients with diabetes. Dry mouth is also the hallmark symptom of the fairly common autoimmune disease Sjgren's syndrome. Sjgren's syndrome can occur either by itself or with another autoimmune disease like rheumatoid arthritis or lupus. Salivary and tear glands are the major targets of the syndrome and the result is a decrease in production of saliva and tears. The disorder can occur at any age, but the average person with the disorder at the Sjgren's Syndrome Clinic of the National Institute of Dental and Craniofacial Research (NIDCR) is in his or her late 50s. Women with the disorder outnumber men 9 to 1. Cancer Treatments and Dry Mouth Certain cancer treatments can affect the salivary glands. Head and neck radiation therapy can cause the glands to produce little or no saliva. Chemotherapy may cause the salivary glands to produce thicker saliva, which makes the mouth feel dry and sticky. Injury to the head or neck can damage the nerves that tell salivary glands to make saliva.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of SAPHO syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of SAPHO syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for SAPHO syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Bone pain 90% Chest pain 90% Hyperostosis 90% Increased bone mineral density 90% Osteolysis 90% Abnormality of the sacroiliac joint 50% Acne 50% Arthritis 50% Osteomyelitis 50% Palmoplantar pustulosis 50% Psoriasis 50% Abdominal pain 7.5% Cranial nerve paralysis 7.5% Inflammation of the large intestine 7.5% Malabsorption 7.5% Recurrent fractures 7.5% Skin rash 7.5% Skin ulcer 7.5% Thrombophlebitis 7.5% Vasculitis 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Perineal Injury in Males ?"}, {"role": "assistant", "content": "Perineal injury is an injury to the perineum, the part of the body between the anus and the genitals, or sex organs. In males, the perineum is the area between the anus and the scrotum, the external pouch of skin that holds the testicles. Injuries to the perineum can happen suddenly, as in an accident, or gradually, as the result of an activity that persistently puts pressure on the perineum. Sudden damage to the perineum is called an acute injury, while gradual damage is called a chronic injury.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) COPD ?"}, {"role": "assistant", "content": "COPD (chronic obstructive pulmonary disease) makes it hard for you to breathe. The two main types are chronic bronchitis and emphysema. The main cause of COPD is long-term exposure to substances that irritate and damage the lungs. This is usually cigarette smoke. Air pollution, chemical fumes, or dust can also cause it. At first, COPD may cause no symptoms or only mild symptoms. As the disease gets worse, symptoms usually become more severe. They include - A cough that produces a lot of mucus - Shortness of breath, especially with physical activity - Wheezing - Chest tightness Doctors use lung function tests, imaging tests, and blood tests to diagnose COPD. There is no cure. Treatments may relieve symptoms. They include medicines, oxygen therapy, surgery, or a lung transplant. Quitting smoking is the most important step you can take to treat COPD. NIH: National Heart, Lung, and Blood Institute", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Myopathy congenital ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Myopathy congenital? The Human Phenotype Ontology provides the following list of signs and symptoms for Myopathy congenital. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the nervous system - Autosomal recessive inheritance - Myopathy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "what research (or clinical trials) is being done for Encephaloceles ?"}, {"role": "assistant", "content": "The NINDS conducts and supports a wide range of studies that explore the complex mechanisms of normal brain development. The knowledge gained from these fundamental studies provides the foundation for understanding how this process can go awry and offers hope for new means to treat and prevent congenital brain disorders including neural tube defects such as encephaloceles.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is geleophysic dysplasia inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Mycobacterium Malmoense ?"}, {"role": "assistant", "content": "How are mycobacterium malmoense infections contracted? M. Malmoense infection may be acquired by breathing in or ingesting the bacteria, or through trauma, such as an injury or surgical incision. People who have suppressed immune systems are at an increased risk for developing signs and symptoms from these infections.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Prescription Drug Abuse ?"}, {"role": "assistant", "content": "If you take a medicine in a way that is different from what the doctor prescribed, it is called prescription drug abuse. It could be - Taking a medicine that was prescribed for someone else - Taking a larger dose than you are supposed to - Taking the medicine in a different way than you are supposed to. This might be crushing tablets and then snorting or injecting them. - Using the medicine for another purpose, such as getting high Abusing some prescription drugs can lead to addiction. These include narcotic painkillers, sedatives, tranquilizers, and stimulants. Every medicine has some risk of side effects. Doctors take this into account when prescribing medicines. People who abuse these drugs may not understand the risks. The medicines may not be safe for them, especially at higher doses or when taken with other medicines. NIH: National Institute on Drug Abuse", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to prevent Short Bowel Syndrome ?"}, {"role": "assistant", "content": "People can ask their health care providers about surgical techniques that minimize scar tissue. Scientists have not yet found a way to prevent short bowel syndrome that is present at birth, as its cause is unknown.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Colon Cancer ?"}, {"role": "assistant", "content": "Key Points\n - There are different types of treatment for patients with colon cancer. - Six types of standard treatment are used: - Surgery - Radiofrequency ablation - Cryosurgery - Chemotherapy - Radiation therapy - Targeted therapy - New types of treatment are being tested in clinical trials. - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed.\n \n \n There are different types of treatment for patients with colon cancer.\n Different types of treatment are available for patients with colon cancer. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Patients may want to think about taking part in a clinical trial. Some clinical trials are open only to patients who have not started treatment.\n \n \n Six types of standard treatment are used:\n Surgery Surgery (removing the cancer in an operation) is the most common treatment for all stages of colon cancer. A doctor may remove the cancer using one of the following types of surgery: - Local excision: If the cancer is found at a very early stage, the doctor may remove it without cutting through the abdominal wall. Instead, the doctor may put a tube with a cutting tool through the rectum into the colon and cut the cancer out. This is called a local excision. If the cancer is found in a polyp (a small bulging area of tissue), the operation is called a polypectomy. - Resection of the colon with anastomosis: If the cancer is larger, the doctor will perform a partial colectomy (removing the cancer and a small amount of healthy tissue around it). The doctor may then perform an anastomosis (sewing the healthy parts of the colon together). The doctor will also usually remove lymph nodes near the colon and examine them under a microscope to see whether they contain cancer. - Resection of the colon with colostomy: If the doctor is not able to sew the 2 ends of the colon back together, a stoma (an opening) is made on the outside of the body for waste to pass through. This procedure is called a colostomy. A bag is placed around the stoma to collect the waste. Sometimes the colostomy is needed only until the lower colon has healed, and then it can be reversed. If the doctor needs to remove the entire lower colon, however, the colostomy may be permanent. Even if the doctor removes all the cancer that can be seen at the time of the operation, some patients may be given chemotherapy or radiation therapy after surgery to kill any cancer cells that are left. Treatment given after the surgery, to lower the risk that the cancer will come back, is called adjuvant therapy. Radiofrequency ablation Radiofrequency ablation is the use of a special probe with tiny electrodes that kill cancer cells. Sometimes the probe is inserted directly through the skin and only local anesthesia is needed. In other cases, the probe is inserted through an incision in the abdomen. This is done in the hospital with general anesthesia. Cryosurgery Cryosurgery is a treatment that uses an instrument to freeze and destroy abnormal tissue. This type of treatment is also called cryotherapy. Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). Chemoembolization of the hepatic artery may be used to treat cancer that has spread to the liver. This involves blocking the hepatic artery (the main artery that supplies blood to the liver) and injecting anticancer drugs between the blockage and the liver. The livers arteries then deliver the drugs throughout the liver. Only a small amount of the drug reaches other parts of the body. The blockage may be temporary or permanent, depending on what is used to block the artery. The liver continues to receive some blood from the hepatic portal vein, which carries blood from the stomach and intestine. The way the chemotherapy is given depends on the type and stage of the cancer being treated. See Drugs Approved for Colon and Rectal Cancer for more information. Radiation therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy: - External radiation therapy uses a machine outside the body to send radiation toward the cancer. - Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. The way the radiation therapy is given depends on the type and stage of the cancer being treated. External radiation therapy is used as palliative therapy to relieve symptoms and improve quality of life. Targeted therapy Targeted therapy is a type of treatment that uses drugs or other substances to identify and attack specific cancer cells without harming normal cells. Types of targeted therapies used in the treatment of colon cancer include the following: - Monoclonal antibodies: Monoclonal antibodies are made in the laboratory from a single type of immune system cell. These antibodies can identify substances on cancer cells or normal substances that may help cancer cells grow. The antibodies attach to the substances and kill the cancer cells, block their growth, or keep them from spreading. Monoclonal antibodies are given by infusion. They may be used alone or to carry drugs, toxins, or radioactive material directly to cancer cells. - Bevacizumab and ramucirumab are types of monoclonal antibodies that bind to a protein called vascular endothelial growth factor (VEGF). This may prevent the growth of new blood vessels that tumors need to grow. - Cetuximab and panitumumab are types of monoclonal antibodies that bind to a protein called epidermal growth factor receptor (EGFR) on the surface of some types of cancer cells. This may stop cancer cells from growing and dividing. - Angiogenesis inhibitors: Angiogenesis inhibitors stop the growth of new blood vessels that tumors need to grow. - Ziv-aflibercept is a vascular endothelial growth factor trap that blocks an enzyme needed for the growth of new blood vessels in tumors. - Regorafenib is used to treat colorectal cancer that has spread to other parts of the body and has not gotten better with other treatment. It blocks the action of certain proteins, including vascular endothelial growth factor. This may help keep cancer cells from growing and may kill them. It may also prevent the growth of new blood vessels that tumors need to grow. See Drugs Approved for Colon and Rectal Cancer for more information.\n \n \n New types of treatment are being tested in clinical trials.\n Information about clinical trials is available from the NCI website.\n \n \n Patients may want to think about taking part in a clinical trial.\n For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward.\n \n \n Patients can enter clinical trials before, during, or after starting their cancer treatment.\n Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.\n \n \n Follow-up tests may be needed.\n Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups.\n \n\t \t\n\t \tTreatment Options for Colon Cancer\n\t\t\t \n\t\t\t \n\t\t\t Stage 0 (Carcinoma in Situ)\n\t\t\t Treatment of stage 0 (carcinoma in situ) may include the following types of surgery: - Local excision or simple polypectomy. - Resection and anastomosis. This is done when the tumor is too large to remove by local excision. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage 0 colon cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.\n\t\t\t \n\t\t\t \n\t\t\t Stage I Colon Cancer\n\t\t\t Treatment of stage I colon cancer usually includes the following: - Resection and anastomosis. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage I colon cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.\n\t\t\t \n\t\t\t \n\t\t\t Stage II Colon Cancer\n\t\t\t Treatment of stage II colon cancer may include the following: - Resection and anastomosis. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage II colon cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.\n\t\t\t \n\t\t\t \n\t\t\t Stage III Colon Cancer\n\t\t\t Treatment of stage III colon cancer may include the following: - Resection and anastomosis which may be followed by chemotherapy. - Clinical trials of new chemotherapy regimens after surgery. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage III colon cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.\n\t\t\t \n\t\t\t \n\t\t\t Stage IV and Recurrent Colon Cancer\n\t\t\t Treatment of stage IV and recurrent colon cancer may include the following: - Local excision for tumors that have recurred. - Resection with or without anastomosis. - Surgery to remove parts of other organs, such as the liver, lungs, and ovaries, where the cancer may have recurred or spread. Treatment of cancer that has spread to the liver may also include the following: - Chemotherapy given before surgery to shrink the tumor, after surgery, or both before and after. - Radiofrequency ablation or cryosurgery, for patients who cannot have surgery. - Chemoembolization of the hepatic artery. - Radiation therapy or chemotherapy may be offered to some patients as palliative therapy to relieve symptoms and improve quality of life. - Chemotherapy and/or targeted therapy with a monoclonal antibody or an angiogenesis inhibitor. - Clinical trials of chemotherapy and/or targeted therapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage IV colon cancer and recurrent colon cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Weill-Marchesani syndrome ?"}, {"role": "assistant", "content": "Weill-Marchesani syndrome is a disorder of connective tissue. Connective tissue forms the body's supportive framework, providing structure and strength to the muscles, joints, organs, and skin. The major signs and symptoms of Weill-Marchesani syndrome include short stature, eye abnormalities, unusually short fingers and toes (brachydactyly), and joint stiffness. Adult height for men with Weill-Marchesani syndrome ranges from 4 feet, 8 inches to 5 feet, 6 inches. Adult height for women with this condition ranges from 4 feet, 3 inches to 5 feet, 2 inches. An eye abnormality called microspherophakia is characteristic of Weill-Marchesani syndrome. This term refers to a small, sphere-shaped lens, which is associated with nearsightedness (myopia) that worsens over time. The lens also may be positioned abnormally within the eye (ectopia lentis). Many people with Weill-Marchesani syndrome develop glaucoma, an eye disease that increases the pressure in the eye and can lead to blindness. Occasionally, heart defects or an abnormal heart rhythm can occur in people with Weill-Marchesani syndrome.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to hereditary hemorrhagic telangiectasia ?"}, {"role": "assistant", "content": "Mutations in the ACVRL1, ENG, and SMAD4 genes cause hereditary hemorrhagic telangiectasia. Hereditary hemorrhagic telangiectasia type 1 is caused by mutations in the gene ENG. Type 2 is caused by mutations in the gene ACVRL1. Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome is caused by mutations in the gene SMAD4. All these genes provide instructions for making proteins that are found in the lining of the blood vessels. These proteins interact with growth factors that control blood vessel development. The gene involved in hereditary hemorrhagic telangiectasia type 3 is not known, but is believed to be located on chromosome 5. Mutations in these genes generally prevent the production of the associated protein, or result in the production of a defective protein that cannot fulfill its function. An individual with a mutated gene will therefore have a reduced amount of the functional protein available in the tissue lining the blood vessels. This deficiency is believed to result in the signs and symptoms of hereditary hemorrhagic telangiectasia.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by intestinal pseudo-obstruction ?"}, {"role": "assistant", "content": "Primary intestinal pseudo-obstruction is a rare disorder. Its prevalence is unknown. The prevalence of secondary intestinal pseudo-obstruction is also unknown, but it is believed to be more common than the primary form.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is histidinemia inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) intranuclear rod myopathy ?"}, {"role": "assistant", "content": "Intranuclear rod myopathy is a disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement. People with intranuclear rod myopathy have severe muscle weakness (myopathy) and poor muscle tone (hypotonia) throughout the body. Signs and symptoms of this condition are apparent in infancy and include feeding and swallowing difficulties, a weak cry, and difficulty with controlling head movements. Affected babies are sometimes described as \"floppy\" and may be unable to move on their own. The severe muscle weakness that occurs in intranuclear rod myopathy also affects the muscles used for breathing. Individuals with this disorder may take shallow breaths (hypoventilate), especially during sleep, resulting in a shortage of oxygen and a buildup of carbon dioxide in the blood. Frequent respiratory infections and life-threatening breathing difficulties can occur. Because of the respiratory problems, most affected individuals do not survive past infancy. Those who do survive have delayed development of motor skills such as sitting, crawling, standing, and walking. The name intranuclear rod myopathy comes from characteristic abnormal rod-shaped structures that can be seen in the nucleus of muscle cells when muscle tissue is viewed under a microscope.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Who is at risk for What I need to know about Diverticular Disease? ?"}, {"role": "assistant", "content": "Many people get diverticular disease. Starting at age 40, the chance of getting it increases about every 10 years. About half of people between the ages of 60 and 80 have diverticular disease. Almost everyone over 80 has it.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to ataxia with oculomotor apraxia ?"}, {"role": "assistant", "content": "Mutations in the APTX and SETX genes cause ataxia with oculomotor apraxia types 1 and 2, respectively. These genes provide instructions for making proteins that are involved in DNA repair. Mutations in the APTX or SETX gene decrease the amount of functional protein that is available to repair damaged DNA, which leads to the accumulation of breaks in DNA. These breaks can be caused by natural and medical radiation or other environmental exposures, and also occur when chromosomes exchange genetic material in preparation for cell division. DNA damage that is not repaired causes the cell to be unstable and can lead to cell death. It is thought that nerve cells in the brain are particularly affected by cell death because these cells do not copy (replicate) themselves to replace cells that have been lost. The part of the brain involved in coordinating movements (the cerebellum) is especially affected. It is thought that the loss of brain cells in the cerebellum causes the movement problems characteristic of ataxia with oculomotor apraxia. Mutations in other genes are responsible for the rare types of ataxia with oculomotor apraxia.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Leukemia ?"}, {"role": "assistant", "content": "There are many treatment options for people with leukemia. The choice of treatment depends on your age and general health, the type of leukemia you have, whether or not it has spread outside the bone marrow, and other factors. If tests show that you have leukemia, you should talk with your doctor and make treatment decisions as soon as possible, although many patients with chronic lymphocytic leukemia do not require treatment for many years. Working With a Team of Specialists A team of specialists often treats people with leukemia. The team will keep the primary doctor informed about the patient's progress. The team may include a hematologist who is a specialist in blood and blood-forming tissues, a medical oncologist who is a specialist in cancer treatment, and a radiation oncologist who is a specialist in radiation therapy. Before starting treatment, you may want another doctor to review the diagnosis and treatment plan. Some insurance companies require a second opinion. Others may pay for a second opinion if you or your doctor requests it. Clinical Trials for Leukemia Some leukemia patients take part in studies of new treatments. These studies, called clinical trials, are designed to find out whether a new treatment is safe and effective and better than current treatments. Talk to your doctor if you are interested in taking part in a clinical trial. The U.S. National Institutes of Health, through its National Library of Medicine and other Institutes, maintains a database of clinical trials at ClinicalTrials.gov. Click here to search for current clinical trials on leukemia.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Plasma Cell Neoplasms (Including Multiple Myeloma) ?"}, {"role": "assistant", "content": "Tests that examine the blood, bone marrow, and urine are used to detect (find) and diagnose multiple myeloma and other plasma cell neoplasms. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken. - Blood and urine immunoglobulin studies: A procedure in which a blood or urine sample is checked to measure the amounts of certain antibodies (immunoglobulins). For multiple myeloma, beta-2-microglobulin, M protein, free light chains, and other proteins made by the myeloma cells are measured. A higher-than-normal amount of these substances can be a sign of disease. - Bone marrow aspiration and biopsy : The removal of bone marrow, blood, and a small piece of bone by inserting a hollow needle into the hipbone or breastbone. A pathologist views the bone marrow, blood, and bone under a microscope to look for abnormal cells. The following test may be done on the sample of tissue removed during the bone marrow aspiration and biopsy: - Cytogenetic analysis : A test in which cells in a sample of bone marrow are viewed under a microscope to look for certain changes in the chromosomes. Other tests, such as fluorescence in situ hybridization (FISH) and flow cytometry, may also be done to look for certain changes in the chromosomes. - Skeletal bone survey: In a skeletal bone survey, x-rays of all the bones in the body are taken. The x-rays are used to find areas where the bone is damaged. An x-ray is a type of energy beam that can go through the body and onto film, making a picture of areas inside the body. - Complete blood count (CBC) with differential : A procedure in which a sample of blood is drawn and checked for the following: - The number of red blood cells and platelets. - The number and type of white blood cells. - The amount of hemoglobin (the protein that carries oxygen) in the red blood cells. - The portion of the blood sample made up of red blood cells. - Blood chemistry studies : A procedure in which a blood sample is checked to measure the amounts of certain substances, such as calcium or albumin, released into the blood by organs and tissues in the body. An unusual (higher or lower than normal) amount of a substance can be a sign of disease. - Twenty-four-hour urine test: A test in which urine is collected for 24 hours to measure the amounts of certain substances. An unusual (higher or lower than normal) amount of a substance can be a sign of disease in the organ or tissue that makes it. A higher than normal amount of protein may be a sign of multiple myeloma. - MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body. This procedure is also called nuclear magnetic resonance imaging (NMRI). An MRI of the spine and pelvis may be used to find areas where the bone is damaged. - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, such as the spine, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - PET-CT scan : A procedure that combines the pictures from a positron emission tomography (PET) scan and a computed tomography (CT) scan. The PET and CT scans are done at the same time with the same machine. The combined scans give more detailed pictures of areas inside the body, such as the spine, than either scan gives by itself.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by hypokalemic periodic paralysis ?"}, {"role": "assistant", "content": "Although its exact prevalence is unknown, hypokalemic periodic paralysis is estimated to affect 1 in 100,000 people. Men tend to experience symptoms of this condition more often than women.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for prothrombin thrombophilia ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of prothrombin thrombophilia: - Gene Review: Gene Review: Prothrombin-Related Thrombophilia - Genetic Testing Registry: Thrombophilia - MedlinePlus Encyclopedia: Deep venous thrombosis - MedlinePlus Encyclopedia: Pulmonary embolus These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay inherited ?"}, {"role": "assistant", "content": "SHORT syndrome has an autosomal dominant pattern of inheritance, which means one copy of the altered PIK3R1 gene in each cell is sufficient to cause the disorder. In most cases, the condition results from a new mutation in the gene and occurs in people with no history of the disorder in their family. In other cases, an affected person inherits the mutation from one affected parent.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) oculocutaneous albinism ?"}, {"role": "assistant", "content": "Oculocutaneous albinism is a group of conditions that affect coloring (pigmentation) of the skin, hair, and eyes. Affected individuals typically have very fair skin and white or light-colored hair. Long-term sun exposure greatly increases the risk of skin damage and skin cancers, including an aggressive form of skin cancer called melanoma, in people with this condition. Oculocutaneous albinism also reduces pigmentation of the colored part of the eye (the iris) and the light-sensitive tissue at the back of the eye (the retina). People with this condition usually have vision problems such as reduced sharpness; rapid, involuntary eye movements (nystagmus); and increased sensitivity to light (photophobia). Researchers have identified multiple types of oculocutaneous albinism, which are distinguished by their specific skin, hair, and eye color changes and by their genetic cause. Oculocutaneous albinism type 1 is characterized by white hair, very pale skin, and light-colored irises. Type 2 is typically less severe than type 1; the skin is usually a creamy white color and hair may be light yellow, blond, or light brown. Type 3 includes a form of albinism called rufous oculocutaneous albinism, which usually affects dark-skinned people. Affected individuals have reddish-brown skin, ginger or red hair, and hazel or brown irises. Type 3 is often associated with milder vision abnormalities than the other forms of oculocutaneous albinism. Type 4 has signs and symptoms similar to those seen with type 2. Several additional types of this disorder have been proposed, each affecting one or a few families.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Do you have information about Diagnostic Imaging"}, {"role": "assistant", "content": "Summary : Diagnostic imaging lets doctors look inside your body for clues about a medical condition. A variety of machines and techniques can create pictures of the structures and activities inside your body. The type of imaging your doctor uses depends on your symptoms and the part of your body being examined. They include - X-rays - CT scans - Nuclear medicine scans - MRI scans - Ultrasound Many imaging tests are painless and easy. Some require you to stay still for a long time inside a machine. This can be uncomfortable. Certain tests involve exposure to a small amount of radiation. For some imaging tests, doctors insert a tiny camera attached to a long, thin tube into your body. This tool is called a scope. The doctor moves it through a body passageway or opening to see inside a particular organ, such as your heart, lungs, or colon. These procedures often require anesthesia.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Asthma ?"}, {"role": "assistant", "content": "Asthma is a breathing disorder that affects the airways. People with this condition experience recurrent swelling and narrowing of the airways of the lungs which is associated with wheezing, shortness of breath, chest tightness, and coughing. Most affected people have episodes of symptoms (\"asthma attacks\") followed by symptom-free periods; however, some may experience persistent shortness of breath in between attacks. Asthma is considered a complex or multifactorial condition that is likely due to a combination of multiple genetic, environmental, and lifestyle factors. Many people with asthma have a personal or family history of allergies, such as hay fever or eczema. Having a family member with asthma is associated with an increased risk of developing the condition. Treatment generally includes various medications, both to prevent asthma attacks and to provide quick relief during an attack.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) multiple cutaneous and mucosal venous malformations ?"}, {"role": "assistant", "content": "Multiple cutaneous and mucosal venous malformations (also known as VMCM) are bluish patches (lesions) on the skin (cutaneous) and the mucous membranes, such as the lining of the mouth and nose. These lesions represent areas where the underlying veins and other blood vessels did not develop properly (venous malformations). The lesions can be painful, especially when they extend from the skin into the muscles and joints, or when a calcium deposit forms within the lesion causing inflammation and swelling. Most people with VMCM are born with at least one venous malformation. As affected individuals age, the lesions present from birth usually become larger and new lesions often appear. The size, number, and location of venous malformations vary among affected individuals, even among members of the same family.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Diabetic Heart Disease ?"}, {"role": "assistant", "content": "At least four complex processes, alone or combined, can lead to diabetic heart disease (DHD). They include coronary atherosclerosis; metabolic syndrome; insulin resistance in people who have type 2 diabetes; and the interaction of coronary heart disease (CHD), high blood pressure, and diabetes.\n \nResearchers continue to study these processes because all of the details aren't yet known.\n \nCoronary Atherosclerosis\n \nAtherosclerosis is a disease in which plaque builds up inside the arteries. The exact cause of atherosclerosis isn't known. However, studies show that it is a slow, complex disease that may start in childhood. The disease develops faster as you age.\n \nCoronary atherosclerosis may start when certain factors damage the inner layers of the coronary (heart) arteries. These factors include:\n \nSmoking\n \nHigh amounts of certain fats and cholesterol in the blood\n \nHigh blood pressure\n \nHigh amounts of sugar in the blood due to insulin resistance or diabetes\n \nPlaque may begin to build up where the arteries are damaged. Over time, plaque hardens and narrows the arteries. This reduces the flow of oxygen-rich blood to your heart muscle.\n \nEventually, an area of plaque can rupture (break open). When this happens, blood cell fragments called platelets (PLATE-lets) stick to the site of the injury. They may clump together to form blood clots.\n \nBlood clots narrow the coronary arteries even more. This limits the flow of oxygen-rich blood to your heart and may worsen angina (chest pain) or cause a heart attack.\n \nMetabolic Syndrome\n \nMetabolic syndrome is the name for a group of risk factors that raises your risk of both CHD and type 2 diabetes.\n \nIf you have three or more of the five metabolic risk factors, you have metabolic syndrome. The risk factors are:\n \nA large waistline (a waist measurement of 35 inches or more for women and 40 inches or more for men).\n \nA high triglyceride (tri-GLIH-seh-ride) level (or youre on medicine to treat high triglycerides). Triglycerides are a type of fat found in the blood.\n \nA low HDL cholesterol level (or you're on medicine to treat low HDL cholesterol). HDL sometimes is called \"good\" cholesterol. This is because it helps remove cholesterol from your arteries.\n \nHigh blood pressure (or youre on medicine to treat high blood pressure).\n \nA high fasting blood sugar level (or you're on medicine to treat high blood sugar).\n \nIt's unclear whether these risk factors have a common cause or are mainly related by their combined effects on the heart.\n \nObesity seems to set the stage for metabolic syndrome. Obesity can cause harmful changes in body fats and how the body uses insulin.\n \nChronic (ongoing) inflammation also may occur in people who have metabolic syndrome. Inflammation is the body's response to illness or injury. It may raise your risk of CHD and heart attack. Inflammation also may contribute to or worsen metabolic syndrome.\n \nResearch is ongoing to learn more about metabolic syndrome and how metabolic risk factors interact.\n \nInsulin Resistance in People Who Have Type 2 Diabetes\n \nType 2 diabetes usually begins with insulin resistance. Insulin resistance means that the body can't properly use the insulin it makes.\n \nPeople who have type 2 diabetes and insulin resistance have higher levels of substances in the blood that cause blood clots. Blood clots can block the coronary arteries and cause a heart attack or even death.\n \nThe Interaction of Coronary Heart Disease, High Blood Pressure, and Diabetes\n \nEach of these risk factors alone can damage the heart. CHD reduces the flow of oxygen-rich blood to your heart muscle. High blood pressure and diabetes may cause harmful changes in the structure and function of the heart.\n \nHaving CHD, high blood pressure, and diabetes is even more harmful to the heart. Together, these conditions can severely damage the heart muscle. As a result, the heart has to work harder than normal. Over time, the heart weakens and isnt able to pump enough blood to meet the bodys needs. This condition is called heart failure.\n \nAs the heart weakens, the body may release proteins and other substances into the blood. These proteins and substances also can harm the heart and worsen heart failure.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Who is at risk for Breast Cancer? ?"}, {"role": "assistant", "content": "Some women develop breast cancer and others do not, and the risk factors for the disease vary. Breast cancer may affect younger women, but three-fourths of all breast cancers occur in women between the ages of 45 to 85. In Situ and Invasive Breast Cancer Researchers often talk about breast cancer in two ways: in situ and invasive. In situ refers to cancer that has not spread beyond its site of origin. Invasive applies to cancer that has spread to the tissue around it. This chart shows what the approximate chances are of a woman getting invasive breast cancer in her lifetime. Risk Factors Risk factors are conditions or agents that increase a person's chances of getting a disease. Here are the most common risk factors for breast cancer. - Older age. The risk of breast cancer in a 70 year old woman is about 10 times that of a 30 year old woman, but risk decreases after age 85. Older age. The risk of breast cancer in a 70 year old woman is about 10 times that of a 30 year old woman, but risk decreases after age 85. - Personal and family history. A personal history of breast cancer or breast cancer among one or more of your close relatives, such as a sister, mother, or daughter. Personal and family history. A personal history of breast cancer or breast cancer among one or more of your close relatives, such as a sister, mother, or daughter. - Estrogen levels in the body. High estrogen levels over a long time may increase the risk of breast cancer. Estrogen levels are highest during the years a woman is menstruating. Estrogen levels in the body. High estrogen levels over a long time may increase the risk of breast cancer. Estrogen levels are highest during the years a woman is menstruating. - Never being pregnant or having your first child in your mid-30s or later. Never being pregnant or having your first child in your mid-30s or later. - Early menstruation. Having your first menstrual period before age 12. Early menstruation. Having your first menstrual period before age 12. - Breast density. Women with very dense breasts have a higher risk of breast cancer than women with low or normal breast density. Breast density. Women with very dense breasts have a higher risk of breast cancer than women with low or normal breast density. - Combination hormone replacement therapy/Hormone therapy. Estrogen, progestin, or both may be given to replace the estrogen no longer made by the ovaries in postmenopausal women or women who have had their ovaries removed. This is called hormone replacement therapy. (HRT) or hormone therapy (HT). Combination HRT/HT is estrogen combined with progestin. This type of HRT/HT can increase the risk of breast cancer. Combination hormone replacement therapy/Hormone therapy. Estrogen, progestin, or both may be given to replace the estrogen no longer made by the ovaries in postmenopausal women or women who have had their ovaries removed. This is called hormone replacement therapy. (HRT) or hormone therapy (HT). Combination HRT/HT is estrogen combined with progestin. This type of HRT/HT can increase the risk of breast cancer. - Exposure to radiation. Radiation therapy to the chest for the treatment of cancer can increase the risk of breast cancer, starting 10 years after treatment. Radiation therapy to treat cancer in one breast does not appear to increase the risk of cancer in the other breast. Exposure to radiation. Radiation therapy to the chest for the treatment of cancer can increase the risk of breast cancer, starting 10 years after treatment. Radiation therapy to treat cancer in one breast does not appear to increase the risk of cancer in the other breast. - Obesity. Obesity increases the risk of breast cancer, especially in postmenopausal women who have not used hormone replacement therapy. Obesity. Obesity increases the risk of breast cancer, especially in postmenopausal women who have not used hormone replacement therapy. - Alcohol. Drinking alcohol increases the risk of breast cancer. The level of risk rises as the amount of alcohol consumed rises. Alcohol. Drinking alcohol increases the risk of breast cancer. The level of risk rises as the amount of alcohol consumed rises. - Gaining weight after menopause, especially after natural menopause and/or after age 60. Gaining weight after menopause, especially after natural menopause and/or after age 60. - Race. White women are at greater risk than black women. However, black women diagnosed with breast cancer are more likely to die of the disease. Race. White women are at greater risk than black women. However, black women diagnosed with breast cancer are more likely to die of the disease. - Inherited gene changes. Women who have inherited certain changes in the genes named BRCA1 and BRCA2 have a higher risk of breast cancer, ovarian cancer and maybe colon cancer. The risk of breast cancer caused by inherited gene changes depends on the type of gene mutation, family history of cancer, and other factors. Men who have inherited certain changes in the BRCA2 gene have a higher risk of breast, prostate and pancreatic cancers, and lymphoma. Inherited gene changes. Women who have inherited certain changes in the genes named BRCA1 and BRCA2 have a higher risk of breast cancer, ovarian cancer and maybe colon cancer. The risk of breast cancer caused by inherited gene changes depends on the type of gene mutation, family history of cancer, and other factors. Men who have inherited certain changes in the BRCA2 gene have a higher risk of breast, prostate and pancreatic cancers, and lymphoma. Five percent to 10 percent of all breast cancers are thought to be inherited. Get information about the BRCA1 and BRCA2 genetic mutations and testing for them. Warning Signs When breast cancer first develops, there may be no symptoms at all. But as the cancer grows, it can cause changes that women should watch for. You can help safeguard your health by learning the following warning signs of breast cancer. - a lump or thickening in or near the breast or in the underarm area - a change in the size or shape of the breast - a dimple or puckering in the skin of the breast - a nipple turned inward into the breast - fluid, other than breast milk, from the nipple, especially if it's bloody - scaly, red, or swollen skin on the breast, nipple, or areola (the dark area of skin around the nipple) - dimples in the breast that look like the skin of an orange. a lump or thickening in or near the breast or in the underarm area a change in the size or shape of the breast a dimple or puckering in the skin of the breast a nipple turned inward into the breast fluid, other than breast milk, from the nipple, especially if it's bloody scaly, red, or swollen skin on the breast, nipple, or areola (the dark area of skin around the nipple) dimples in the breast that look like the skin of an orange. Don't Ignore Symptoms You should see your doctor about any symptoms like these. Most often, they are not cancer, but it's important to check with the doctor so that any problems can be diagnosed and treated as early as possible. Some women believe that as they age, health problems are due to \"growing older.\" Because of this myth, many illnesses go undiagnosed and untreated. Don't ignore your symptoms because you think they are not important or because you believe they are normal for your age. Talk to your doctor.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Who is at risk for Angina? ?"}, {"role": "assistant", "content": "Angina is a symptom of an underlying heart problem. Its usually a symptom of coronary heart disease (CHD), but it also can be a symptom of coronary microvascular disease (MVD). So, if youre at risk for CHD or coronary MVD, youre also at risk for angina.\n \nThe major risk factors for CHD and coronary MVD include:\n \nUnhealthy cholesterol levels.\n \nHigh blood pressure.\n \nSmoking.\n \nInsulin resistance or diabetes.\n \nOverweight or obesity.\n \nMetabolic syndrome.\n \nLack of physical activity.\n \nUnhealthy diet.\n \nOlder age. (The risk increases for men after 45 years of age and for women after 55 years of age.)\n \nFamily history of early heart disease.\n \nFor more detailed information about CHD and coronary MVD risk factors, visit the Diseases and Conditions Index Coronary Heart Disease, Coronary Heart Disease Risk Factors, and Coronary Microvascular Disease articles.\n \nPeople sometimes think that because men have more heart attacks than women, men also suffer from angina more often. In fact, overall, angina occurs equally among men and women.\n \nMicrovascular angina, however, occurs more often in women. About 70 percent of the cases of microvascular angina occur in women around the time of menopause.\n \nUnstable angina occurs more often in older adults. Variant angina is rare; it accounts for only about 2 out of 100 cases of angina. People who have variant angina often are younger than those who have other forms of angina.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to Stormorken syndrome ?"}, {"role": "assistant", "content": "Stormorken syndrome is caused by a mutation in the STIM1 gene. The protein produced from this gene is involved in controlling the entry of positively charged calcium atoms (calcium ions) into cells. The STIM1 protein recognizes when calcium ion levels are low and stimulates the flow of ions into the cell through special channels in the cell membrane called calcium-release activated calcium (CRAC) channels. The flow of calcium ions through CRAC channels triggers signaling within cells that helps control gene activity, cell growth and division, and immune function. The STIM1 gene mutation involved in Stormorken syndrome leads to production of a STIM1 protein that is constantly turned on (constitutively active), which means it continually stimulates calcium ion entry through CRAC channels regardless of ion levels. Researchers suggest that the abnormal ion flow in platelets causes the cells to die earlier than usual, leading to thrombocytopenia and bleeding problems in people with Stormorken syndrome. It is unknown how constitutively active STIM1 leads to the other features of the disorder.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) factor V deficiency ?"}, {"role": "assistant", "content": "Factor V deficiency is a rare bleeding disorder. The signs and symptoms of this condition can begin at any age, although the most severe cases are apparent in childhood. Factor V deficiency commonly causes nosebleeds; easy bruising; bleeding under the skin; bleeding of the gums; and prolonged or excessive bleeding following surgery, trauma, or childbirth. Women with factor V deficiency can have heavy or prolonged menstrual bleeding (menorrhagia). Bleeding into joint spaces (hemarthrosis) can also occur, although it is rare. Severely affected individuals have an increased risk of bleeding inside the skull (intracranial hemorrhage), in the lungs (pulmonary hemorrhage), or in the gastrointestinal tract, which can be life-threatening.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) fragile XE syndrome ?"}, {"role": "assistant", "content": "Fragile XE syndrome is a genetic disorder that impairs thinking ability and cognitive functioning. Most affected individuals have mild intellectual disability. In some people with this condition, cognitive function is described as borderline, which means that it is below average but not low enough to be classified as an intellectual disability. Females are rarely diagnosed with fragile XE syndrome, likely because the signs and symptoms are so mild that the individuals function normally. Learning disabilities are the most common sign of impaired cognitive function in people with fragile XE syndrome. The learning disabilities are likely a result of communication and behavioral problems, including delayed speech, poor writing skills, hyperactivity, and a short attention span. Some affected individuals display autistic behaviors, such as hand flapping, repetitive behaviors, and intense interest in a particular subject. Unlike some other forms of intellectual disability, cognitive functioning remains steady and does not decline with age in fragile XE syndrome.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Hemochromatosis ?"}, {"role": "assistant", "content": "Your doctor will diagnose hemochromatosis based on your medical and family histories, a physical exam, and the results from tests and procedures.\n \nThe disease sometimes is detected while checking for other diseases or conditions, such as arthritis, liver disease, diabetes, heart disease, or erectile dysfunction (impotence).\n \nSpecialists Involved\n \nFamily doctors and internal medicine specialists may diagnose and treat hemochromatosis. Other doctors also may be involved in diagnosing and treating the disease, including:\n \nHematologists (blood disease specialists)\n \nCardiologists (heart specialists)\n \nEndocrinologists (gland system specialists)\n \nHepatologists (liver specialists)\n \nGastroenterologists (digestive tract specialists)\n \nRheumatologists (specialists in diseases of the joints and tissues)\n \nMedical and Family Histories\n \nTo learn about your medical and family histories, your doctor may ask:\n \nAbout your signs and symptoms, including when they started and their severity.\n \nWhether you take iron (pills or injections) with or without vitamin C supplements (vitamin C helps your body absorb iron from food). If so, your doctor may ask how much iron you take. This information can help him or her diagnose secondary hemochromatosis.\n \nWhether other members of your family have hemochromatosis.\n \nWhether other members of your family have a history of medical problems or diseases related to hemochromatosis.\n \nPhysical Exam\n \nYour doctor will do a physical exam to check for signs and symptoms of hemochromatosis. He or she will listen to your heart for irregular heartbeats and check for arthritis, abnormal skin color, and an enlarged liver.\n \nDiagnostic Tests and Procedures\n \nYour doctor may recommend one or more tests or procedures to diagnose hemochromatosis.\n \nBlood Tests\n \nIn hemochromatosis, the amount of iron in your body may be too high, even though the level of iron in your blood is normal. Certain blood tests can help your doctor find out how much iron is in your body. \n \nDuring these tests, a sample of blood is taken from your body. It's usually drawn from a vein in your arm using a needle. The procedure usually is quick and easy, although it may cause some short-term discomfort.\n \nThe blood tests you have may include transferrin saturation (TS), serum ferritin level, and liver function tests.\n \nTransferrin is a protein that carries iron in the blood. The TS test shows how much iron the transferrin is carrying. This helps your doctor find out how much iron is in your body.\n \nYour doctor may test your serum ferritin level if your TS level is high. A serum ferritin level test shows how much iron is stored in your body's organs. A buildup of iron may suggest hemochromatosis.\n \nYou may have liver function tests to check for damage to your liver. Liver damage may be a sign of hemochromatosis. If you have hemochromatosis, liver function tests may show the severity of the disease.\n \nBlood tests alone can't diagnose hemochromatosis. Thus, your doctor may recommend other tests as well.\n \nLiver Biopsy\n \nDuring a liver biopsy, your doctor numbs an area near your liver and then removes a small sample of liver tissue using a needle. The tissue is then looked at under a microscope.\n \nA liver biopsy can show how much iron is in your liver. This procedure also can help your doctor diagnose liver damage (for example, scarring and cancer). Liver biopsies are less common now than in the past.\n \nMagnetic Resonance Imaging\n \nMagnetic resonance imaging (MRI) is a safe test that uses radio waves, magnets, and a computer to create pictures of your organs. An MRI may be done to show the amount of iron in your liver.\n \nSuperconducting Quantum Interference Device\n \nA superconducting quantum interference device (SQuID) is a machine that uses very sensitive magnets to measure the amount of iron in your liver. This machine is available at only a few medical centers.\n \nGenetic Testing\n \nGenetic testing can show whether you have a faulty HFE gene or genes. However, even if you do have two faulty HFE genes, the genetic test can't predict whether you'll develop signs and symptoms of hemochromatosis.\n \nAlso, genetic testing may not detect other, less common faulty genes that also can cause hemochromatosis.\n \nThere are two ways to do genetic testing. Cells can be collected from inside your mouth using a cotton swab, or a sample of blood can be drawn from a vein in your arm.\n \nPeople who have hemochromatosis (or a family history of it) and are planning to have children may want to consider genetic testing and counseling. Testing will help show whether one or both parents have faulty HFE genes. A genetic counselor also can help figure out the likelihood of the parents passing the faulty genes on to their children.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Stroke ?"}, {"role": "assistant", "content": "Some brain cells die because they stop getting the oxygen and nutrients they need to function. Other brain cells die because they are damaged by sudden bleeding into or around the brain. The brain cells that don't die immediately remain at risk for death. These cells can linger in a compromised or weakened state for several hours. With timely treatment these cells can be saved. Knowing stroke symptoms, calling 911 immediately, and getting to a hospital as quickly as possible are critical.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for 3-Hydroxyisobutyric aciduria ?"}, {"role": "assistant", "content": "How might 3-hydroxyisobutyric aciduria be treated? There is no cure for 3-hydroxyisobutyric aciduria. Because it is so rare, there is limited evidence to support the effectiveness of treatment. However, affected people have been treated with a protein-restricted diet and carnitine supplementation with varying degrees of success.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is the outlook for Pelizaeus-Merzbacher Disease ?"}, {"role": "assistant", "content": "The prognosis for those with the severe forms of Pelizaeus-Merzbacher disease is poor, with progressive deterioration until death. On the other end of the disease spectrum, individuals with the mild form, in which spastic paraplegia is the chief symptom, may have nearly normal activity and life span.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Paget disease of bone ?"}, {"role": "assistant", "content": "Paget disease of bone is a disorder that involves abnormal bone destruction and regrowth, which results in deformity. This condition can affect any of the bones in the body; but most people have it in their spine, pelvis, skull, or leg bones. The disease may affect only one bone or several bones; but it does not affect the entire skeleton. Bones with Paget disease may break more easily, and the disease can lead to other health problems. The cause of Paget disease is unknown, although it may be associated with faulty genes or viral infections early in life.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Nance-Horan syndrome ?"}, {"role": "assistant", "content": "Nance-Horan syndrome is a rare genetic disorder that may be evident at birth. It is characterized by teeth abnormalities and cataracts, resulting in poor vision. Additional eye abnormalities are also often present, including a very small cornea and nystagmus. In some cases, the condition may also be associated with physical abnormalities and/or intellectual disability. The range and severity of symptoms may vary greatly from one person to another, even among affected members of the same family. Nance-Horan syndrome is caused by a mutation in the NHS gene and is inherited as an X-linked dominant trait, which means that both males and females can be affected, but males often have more severe symptoms.The treatment is directed toward the specific symptoms that are apparent in the individual.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Parasites - Lice - Head Lice ?"}, {"role": "assistant", "content": "Misdiagnosis of head lice infestation is common. The diagnosis of head lice infestation is best made by finding a live nymph or adult louse on the scalp or hair of a person.\n \nBecause adult and nymph lice are very small, move quickly, and avoid light, they may be difficult to find. Use of a fine-toothed louse comb may facilitate identification of live lice.\n \nIf crawling lice are not seen, finding nits attached firmly within \u00bc inch of the base of hair shafts suggests, but does not confirm, the person is infested. Nits frequently are seen on hair behind the ears and near the back of the neck. Nits that are attached more than \u00bc inch from the base of the hair shaft are almost always non-viable (hatched or dead). Head lice and nits can be visible with the naked eye, although use of a magnifying lens may be necessary to find crawling lice or to identify a developing nymph inside a viable nit. Nits are often confused with other particles found in hair such as dandruff, hair spray droplets, and dirt particles.\n \nIf no nymphs or adults are seen, and the only nits found are more than \u00bc inch from the scalp, then the infestation is probably old and no longer active \u2014 and does not need to be treated.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) McKusick-Kaufman syndrome ?"}, {"role": "assistant", "content": "McKusick-Kaufman syndrome is a condition that affects the development of the hands and feet, heart, and reproductive system. It is characterized by a combination of three features: extra fingers and/or toes (polydactyly), heart defects, and genital abnormalities. Most females with McKusick-Kaufman syndrome are born with a genital abnormality called hydrometrocolpos, which is a large accumulation of fluid in the pelvis. Hydrometrocolpos results from a blockage of the vagina before birth, which can occur if part of the vagina fails to develop (vaginal agenesis) or if a membrane blocks the opening of the vagina. This blockage allows fluid to build up in the vagina and uterus, stretching these organs and leading to a fluid-filled mass. Genital abnormalities in males with McKusick-Kaufman syndrome can include placement of the urethral opening on the underside of the penis (hypospadias), a downward-curving penis (chordee), and undescended testes (cryptorchidism). The signs and symptoms of McKusick-Kaufman syndrome overlap significantly with those of another genetic disorder, Bardet-Biedl syndrome. Bardet-Biedl syndrome has several features that are not seen in McKusick-Kaufman syndrome, however. These include vision loss, delayed development, obesity, and kidney (renal) failure. Because some of these features are not apparent at birth, the two conditions can be difficult to tell apart in infancy and early childhood.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Chapare Hemorrhagic Fever (CHHF) ?"}, {"role": "assistant", "content": "Supportive therapy is important in CHHF. This includes: \n \n - maintenance of hydration \n - management of shock \n - sedation \n - pain relief \n - usual precautions for patients with bleeding disorders \n - transfusions (when necessary) \n \n \nUse of convalescent plasma therapy for treatment of AHF reduces mortality significantly and anecdotal evidence shows that the antiviral drug ribavirin may also hold promise for treating AHF. Ribavirin has also been considered for preventing development of disease in people exposed to other arenaviruses. \n Recovery \n \nThe precise mortality of CHHF is unknown and the only described case was fatal. \n \nPatients who have suffered from other arenaviruses may continue to excrete virus in urine or semen for weeks after recovery. For this reason, these fluids should be monitored for infectivity, since convalescent patients have the potential to infect others (particularly sexual partners) via these fluids.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Gallstones ?"}, {"role": "assistant", "content": "Gallstones are hard particles that develop in the gallbladder. The gallbladder is a small, pear-shaped organ located in the upper right abdomenthe area between the chest and hipsbelow the liver.\n \nGallstones can range in size from a grain of sand to a golf ball. The gallbladder can develop a single large gallstone, hundreds of tiny stones, or both small and large stones. Gallstones can cause sudden pain in the upper right abdomen. This pain, called a gallbladder attack or biliary colic, occurs when gallstones block the ducts of the biliary tract.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Horizontal gaze palsy with progressive scoliosis ?"}, {"role": "assistant", "content": "Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare disorder that affects vision and also causes an abnormal curvature of the spine (scoliosis). People with this condition are unable to move their eyes side-to-side (horizontally) and must turn their head instead of moving their eyes to track moving objects. Scoliosis develops in infancy or childhood and worsens over time. Scoliosis can be painful and may interfere with movement so it is often treated with surgery early in life. HGPPS is caused by changes (mutations) in the ROBO3 gene and is inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by Short Bowel Syndrome ?"}, {"role": "assistant", "content": "Short bowel syndrome is a rare condition. Each year, short bowel syndrome affects about three out of every million people.1", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Heartburn ?"}, {"role": "assistant", "content": "Heartburn is a painful burning feeling in your chest or throat. It happens when stomach acid backs up into your esophagus, the tube that carries food from your mouth to your stomach. If you have heartburn more than twice a week, you may have GERD. But you can have GERD without having heartburn. Pregnancy, certain foods, alcohol, and some medications can bring on heartburn. Treating heartburn is important because over time reflux can damage the esophagus. Over-the-counter medicines may help. If the heartburn continues, you may need prescription medicines or surgery. If you have other symptoms such as crushing chest pain, it could be a heart attack. Get help immediately.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Who is at risk for Osteoporosis? ?"}, {"role": "assistant", "content": "The more likely you are to fall, the higher your risk for a fracture. And more severe falls increase your risk for fractures. Factors that increase your risk of falling and of fracturing a bone include - decreased muscle strength - poor balance - impaired eyesight - impaired mental abilities - certain medications, such as tranquilizers and muscle relaxants - hazardous elements in your living environment, such as slippery throw rugs and icy sidewalks. decreased muscle strength poor balance impaired eyesight impaired mental abilities certain medications, such as tranquilizers and muscle relaxants hazardous elements in your living environment, such as slippery throw rugs and icy sidewalks.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Hemolytic uremic syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Hemolytic uremic syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hemolytic uremic syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Acute kidney injury - Anuria - Autosomal dominant inheritance - Autosomal recessive inheritance - Cognitive impairment - Coma - Decreased serum complement C3 - Decreased serum complement factor B - Decreased serum complement factor H - Decreased serum complement factor I - Diarrhea - Dysphasia - Elevated serum creatinine - Fever - Hemiparesis - Hemolytic-uremic syndrome - Hyperlipidemia - Hypertension - Increased blood urea nitrogen (BUN) - Microangiopathic hemolytic anemia - Purpura - Reticulocytosis - Schistocytosis - Seizures - Thrombocytopenia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is the outlook for Neuromyelitis Optica ?"}, {"role": "assistant", "content": "Most individuals with NMO have an unpredictable, relapsing course of disease with attacks occurring months or years apart. Disability is cumulative, the result of each attack damaging new areas of the central nervous system. Some individuals are severely affected by NMO and can lose vision in both eyes and the use of their arms and legs. Most individuals experience some degree of permanent limb weakness or vision loss from NMO. However, reducing the number of attacks with immunosuppressive medications may help prevent with accumulation of disability. Rarely, muscle weakness can be severe enough to cause breathing difficulties and may require the use of artificial ventilation.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is the outlook for Childhood Astrocytomas ?"}, {"role": "assistant", "content": "Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - Whether the tumor is a low-grade or high-grade astrocytoma. - Where the tumor has formed in the CNS and if it has spread to nearby tissue or to other parts of the body. - How fast the tumor is growing. - The child's age. - Whether cancer cells remain after surgery. - Whether there are changes in certain genes. - Whether the child has NF1 or tuberous sclerosis. - Whether the child has diencephalic syndrome (a condition which slows physical growth). - Whether the child has intracranial hypertension (cerebrospinal fluid pressure within the skull is high) at the time of diagnosis. - Whether the astrocytoma has just been diagnosed or has recurred (come back). For recurrent astrocytoma, prognosis and treatment depend on how much time passed between the time treatment ended and the time the astrocytoma recurred.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Gout ?"}, {"role": "assistant", "content": "Gout is a form of arthritis that frequently affects joints in the lower part of the body such as the knees, ankles, or toes. The affected joint may become swollen, red, or warm. Attacks usually occur at night. Sometime during the course of the disease, many patients will develop gout in the big toe. Other signs and symptoms of gout include - hyperuricemia -- high levels of uric acid in the body - the presence of uric acid crystals in joint fluid - more than one attack of acute arthritis - arthritis that develops in a day, producing a swollen, red, and warm joint - attack of arthritis in only one joint, often the toe, ankle, or knee. hyperuricemia -- high levels of uric acid in the body the presence of uric acid crystals in joint fluid more than one attack of acute arthritis arthritis that develops in a day, producing a swollen, red, and warm joint attack of arthritis in only one joint, often the toe, ankle, or knee.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "what is botulism?"}, {"role": "assistant", "content": "Botulism is a rare but serious paralytic illness caused by a nerve toxin that is produced by the bacterium Clostridium botulinum and sometimes by strains of Clostridium butyricum and Clostridium baratii. There are five main kinds of botulism. Foodborne botulism is caused by eating foods that contain the botulinum toxin. Wound botulism is caused by toxin produced from a wound infected with Clostridium botulinum. Infant botulism is caused by consuming the spores of the botulinum bacteria, which then grow in the intestines and release toxin. Adult intestinal toxemia (adult intestinal colonization) botulism is a very rare kind of botulism that occurs among adults by the same route as infant botulism. Lastly, iatrogenic botulism can occur from accidental overdose of botulinum toxin. All forms of botulism can be fatal and are considered medical emergencies. Foodborne botulism is a public health emergency because many people can be poisoned by eating a contaminated food.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Fabry disease ?"}, {"role": "assistant", "content": "Fabry disease is an inherited disorder that results from the buildup of a particular type of fat in the body's cells, called globotriaosylceramide or GL-3. Fabry disease affects many parts of the body. Signs and symptoms may include episodes of pain, particularly in the hands and feet (acroparesthesias); clusters of small, dark red spots on the skin called angiokeratomas; a decreased ability to sweat (hypohidrosis); cloudiness of the front part of the eye (corneal opacity); and hearing loss. Potentially severe complications can include progressive kidney damage, heart attack, and stroke. Milder forms of the disorder may appear later in life and affect only the heart or kidneys. Fabry disease is caused by mutations in the GLA gene and is inherited in an X-linked manner. Treatment may include enzyme replacement therapy (ERT); pain medications, ACE inhibitors; and chronic hemodialysis or renal transplantation for end stage renal disease.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) SUNCT Headache ?"}, {"role": "assistant", "content": "SUNCT-Short-lasting, Unilateral, Neuralgiform headache attacks with Conjunctival injection and Tearing-is a rare form of headache that is most common in men after age 50. The disorder is marked by bursts of moderate to severe burning, piercing, or throbbing pain, usually on one side of the head and around the eye or temple. The pain usually peaks within seconds of onset and may follow a pattern of increasing and decreasing intensity. Attacks typically occur in daytime hours and last from 5 seconds to 4 minutes per episode. Individuals generally have five to six attacks per hour.\n \nAutonomic nervous system responses include watery eyes, reddish or bloodshot eyes caused by dilation of blood vessels (conjunctival injection), nasal congestion, runny nose, sweaty forehead, swelling of the eyelids, and increased pressure within the eye on the affected side of head. Systolic blood pressure may rise during the attacks. Movement of the neck may trigger these headaches. SUNCT may be a form of trigeminal neuralgia and is considered one of the trigeminal autonomic cephalgias, or TACs.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by essential thrombocythemia ?"}, {"role": "assistant", "content": "Essential thrombocythemia affects an estimated 1 to 24 per 1 million people worldwide.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Marfan syndrome ?"}, {"role": "assistant", "content": "Marfan syndrome is a disorder of the connective tissue. Connective tissue provides strength and flexibility to structures throughout the body such as bones, ligaments, muscles, walls of blood vessels, and heart valves. Marfan syndrome affects most organs and tissues, especially the skeleton, lungs, eyes, heart, and the large blood vessel that distributes blood from the heart to the rest of the body (the aorta). It is caused by mutations in the FBN1 gene, which provides instructions for making a protein called fibrillin-1. Marfan syndrome is inherited in an autosomal dominant pattern. At least 25% of cases are due to a new mutation. Treatment is symptomatic and supportive.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Congenital Myopathy ?"}, {"role": "assistant", "content": "A myopathy is a disorder of the muscles that usually results in weakness. Congenital myopathy refers to a group of muscle disorders that appear at birth or in infancy. Typically, an infant with a congenital myopathy will be \"floppy,\" have difficulty breathing or feeding, and will lag behind other babies in meeting normal developmental milestones such as turning over or sitting up.\n \nMuscle weakness can occur for many reasons, including a problem with the muscle, a problem with the nerve that stimulates the muscle, or a problem with the brain. Therefore, to diagnose a congenital myopathy, a neurologist will perform a detailed physical exam as well as tests to determine the cause of weakness. If a myopathy is suspected, possible tests include a blood test for a muscle enzyme called creatine kinase, an electromyogram (EMG) to evaluate the electrical activity of the muscle, a muscle biopsy, and genetic testing.\n \nThere are currently seven distinct types of congenital myopathy, with some variation in symptoms, complications, treatment options, and outlook.\n \nNemaline myopathy is the most common congenital myopathy. Infants usually have problems with breathing and feeding. Later, some skeletal problems may arise, such as scoliosis (curvature of the spine). In general, the weakness does not worsen during life.\n \nMyotubular myopathy is rare and only affects boys. Weakness and floppiness are so severe that a mother may notice reduced movements of the baby in her womb during pregnancy. There are usually significant breathing and swallowing difficulties; many children do not survive infancy. Osteopenia (weakening of the bones) is also associated with this disorder.\n \nCentronuclear myopathy is rare and begins in infancy or early childhood with weakness of the arms and legs, droopy eyelids, and problems with eye movements. Weakness often gets worse with time.\n \nCentral core disease varies among children with regard to the severity of problems and the degree of worsening over time. Usually, there is mild floppiness in infancy, delayed milestones, and moderate limb weakness, which do not worsen much over time. Children with central core disease may have life-threatening reactions to general anesthesia. Treatment with the drug salbutamol has been shown to reduce weakness significantly, although it does not cure the disorder.\n \nMulti-minicore disease has several different subtypes. Common to most is severe weakness of the limbs and scoliosis. Often breathing difficulties occur as well. Some children have weakened eye movements.\n \nCongenital fiber-type disproportion myopathy is a rare disorder that begins with floppiness, limb and facial weakness, and breathing problems.\n \nHyaline body myopathy is a disorder characterized by the specific appearance under the microscope of a sample of muscle tissue. It probably includes several different causes. Because of this, the symptoms are quite variable.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Juvenile dermatomyositis ?"}, {"role": "assistant", "content": "Juvenile dermatomyositis has some similarities to adult dermatomyositis and polymyositis. It typically affects children ages 2 to 15 years, with symptoms that include weakness of the muscles close to the trunk of the body, inflammation, edema, muscle pain, fatigue, skin rashes, abdominal pain, fever, and contractures. Children with juvenile dermatomyositis may have difficulty swallowing and breathing, and the heart may also be affected. About 20 to 30 percent of children with juvenile dermatomyositis develop calcium deposits in the soft tissue. Affected children may not show higher than normal levels of the muscle enzyme creatine kinase in their blood but have higher than normal levels of other muscle enzymes.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Wolf-Hirschhorn syndrome ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of Wolf-Hirschhorn syndrome: - Gene Review: Gene Review: Wolf-Hirschhorn Syndrome - Genetic Testing Registry: 4p partial monosomy syndrome - MedlinePlus Encyclopedia: Epilepsy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Stve-Wiedemann syndrome ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of Stve-Wiedemann syndrome: - Genetic Testing Registry: Stuve-Wiedemann syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is primary sclerosing cholangitis inherited ?"}, {"role": "assistant", "content": "The inheritance pattern of primary sclerosing cholangitis is unknown because many genetic and environmental factors are likely to be involved. This condition tends to cluster in families, however, and having an affected family member is a risk factor for developing the disease.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Diabetic Nerve Problems ?"}, {"role": "assistant", "content": "If you have diabetes, your blood glucose, or blood sugar, levels are too high. Over time, this can damage the covering on your nerves or the blood vessels that bring oxygen to your nerves. Damaged nerves may stop sending messages, or may send messages slowly or at the wrong times. This damage is called diabetic neuropathy. Over half of people with diabetes get it. Symptoms may include - Numbness in your hands, legs, or feet - Shooting pains, burning, or tingling - Nausea, vomiting, constipation, or diarrhea - Problems with sexual function - Urinary problems - Dizziness when you change positions quickly Your doctor will diagnose diabetic neuropathy with a physical exam and nerve tests. Controlling your blood sugar can help prevent nerve problems, or keep them from getting worse. Treatment may include pain relief and other medicines. NIH: National Institute of Diabetes and Digestive and Kidney Diseases", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of De Barsy syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of De Barsy syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for De Barsy syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the fontanelles or cranial sutures 90% Cataract 90% Cognitive impairment 90% Cutis laxa 90% Hyperextensible skin 90% Hyperreflexia 90% Joint hypermobility 90% Muscular hypotonia 90% Opacification of the corneal stroma 90% Prematurely aged appearance 90% Short stature 90% Wide nasal bridge 90% Abnormality of adipose tissue 50% Aplasia/Hypoplasia of the corpus callosum 50% Aplasia/Hypoplasia of the skin 50% Broad forehead 50% Macrotia 50% Abnormality of female external genitalia 7.5% Abnormality of skin pigmentation 7.5% Abnormality of the hip bone 7.5% Adducted thumb 7.5% Aplasia/Hypoplasia of the abdominal wall musculature 7.5% Blue sclerae 7.5% Chorea 7.5% Flexion contracture 7.5% Genu recurvatum 7.5% Joint dislocation 7.5% Pectus excavatum 7.5% Reduced bone mineral density 7.5% Scoliosis 7.5% Umbilical hernia 7.5% Cryptorchidism 5% Athetosis - Autosomal recessive inheritance - Brachycephaly - Congenital hip dislocation - Corneal arcus - Delayed skeletal maturation - Failure to thrive - Frontal bossing - Hypertelorism - Hypotelorism - Inguinal hernia - Intellectual disability - Intrauterine growth retardation - Large fontanelles - Low-set ears - Myopia - Narrow mouth - Narrow nasal ridge - Prominent forehead - Prominent superficial blood vessels - Seizures - Severe short stature - Sparse hair - Sporadic - Strabismus - Talipes equinovarus - Thin skin - Wide cranial sutures - Wormian bones - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is 48,XXYY syndrome inherited ?"}, {"role": "assistant", "content": "Can 48,XXYY syndrome be inherited?", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by Prolactinoma ?"}, {"role": "assistant", "content": "Although small benign pituitary tumors are fairly common in the general population, symptomatic prolactinomas are uncommon. Prolactinomas occur more often in women than men and rarely occur in children.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by glycogen storage disease type 0 ?"}, {"role": "assistant", "content": "The prevalence of GSD 0 is unknown; fewer than 10 people with the muscle type and fewer than 30 people with the liver type have been described in the scientific literature. Because some people with muscle GSD 0 die from sudden cardiac arrest early in life before a diagnosis is made and many with liver GSD 0 have mild signs and symptoms, it is thought that GSD 0 may be underdiagnosed.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Hendra Virus Disease (HeV) ?"}, {"role": "assistant", "content": "After an incubation of 9-16 days, infection with Hendra virus can lead to respiratory illness with severe flu-like signs and symptoms. In some cases, illness may progress to encephalitis. \n \nAlthough infection with Hendra virus is rare, the case fatality is high: 4/7 (57%).", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) cutis laxa ?"}, {"role": "assistant", "content": "Cutis laxa is a disorder of connective tissue, which is the tissue that forms the body's supportive framework. Connective tissue provides structure and strength to the muscles, joints, organs, and skin. The term \"cutis laxa\" is Latin for loose or lax skin, and this condition is characterized by skin that is sagging and not stretchy (inelastic). The skin often hangs in loose folds, causing the face and other parts of the body to have a droopy appearance. Extremely wrinkled skin may be particularly noticeable on the neck and in the armpits and groin. Cutis laxa can also affect connective tissue in other parts of the body, including the heart, blood vessels, joints, intestines, and lungs. The disorder can cause heart problems and abnormal narrowing, bulging, or tearing of critical arteries. Affected individuals may have soft out-pouchings in the lower abdomen (inguinal hernia) or around the belly button (umbilical hernia). Pouches called diverticula can also develop in the walls of certain organs, such as the bladder and intestines. During childhood, some people with cutis laxa develop a lung disease called emphysema, which can make it difficult to breathe. Depending on which organs and tissues are affected, the signs and symptoms of cutis laxa can range from mild to life-threatening. Researchers have described several different forms of cutis laxa. The forms are often distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or X-linked. In general, the autosomal recessive forms of cutis laxa tend to be more severe than the autosomal dominant form. In addition to the features described above, some people with autosomal recessive cutis laxa have delayed development, intellectual disability, seizures, and problems with movement that can worsen over time. The X-linked form of cutis laxa is often called occipital horn syndrome. This form of the disorder is considered a mild type of Menkes syndrome, which is a condition that affects copper levels in the body. In addition to sagging and inelastic skin, occipital horn syndrome is characterized by wedge-shaped calcium deposits in a bone at the base of the skull (the occipital bone), coarse hair, and loose joints.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to Senior-Lken syndrome ?"}, {"role": "assistant", "content": "Senior-Lken syndrome can be caused by mutations in one of at least five genes. The proteins produced from these genes are known or suspected to play roles in cell structures called cilia. Cilia are microscopic, finger-like projections that stick out from the surface of cells; they are involved in signaling pathways that transmit information between cells. Cilia are important for the structure and function of many types of cells, including certain cells in the kidneys. They are also necessary for the perception of sensory input (such as vision, hearing, and smell). Mutations in the genes associated with Senior-Lken syndrome likely lead to problems with the structure and function of cilia. Defects in these cell structures probably disrupt important chemical signaling pathways within cells. Although researchers believe that defective cilia are responsible for the features of this disorder, it remains unclear how they lead specifically to nephronophthisis and Leber congenital amaurosis. Some people with Senior-Lken syndrome do not have identified mutations in one of the five genes known to be associated with the condition. In these cases, the genetic cause of the disorder is unknown.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by Weaver syndrome ?"}, {"role": "assistant", "content": "The prevalence of Weaver syndrome is unknown. About 50 affected individuals have been described in the medical literature.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Pulmonary alveolar microlithiasis ?"}, {"role": "assistant", "content": "Pulmonary alveolar microlithiasis is a disorder in which tiny fragments (microliths) of calcium phosphate gradually accumulate in the small air sacs (alveoli) of the lungs. These deposits eventually cause widespread damage to the alveoli and surrounding lung tissue (interstitial lung disease). People with this disorder may also develop a persistent cough and difficulty breathing (dyspnea), especially during physical exertion. Chest pain that worsens when coughing, sneezing, or taking deep breaths is another common feature. People with pulmonary alveolar microlithiasis may also develop calcium phosphate deposits in other organs and tissue of the body. Though the course of the disease can be variable, many cases slowly progress to lung fibrosis, respiratory failure, or cor pulmonale. The only effective therapy is lung transplantation. In some cases, pulmonary alveolar microlithiasis is caused by mutations in the SLC34A2 gene and inherited in an autosomal recessive manner.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Olmsted syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Olmsted syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Olmsted syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the fingernails 90% Hypohidrosis 90% Limitation of joint mobility 90% Palmoplantar keratoderma 90% Abnormality of bone mineral density 50% Carious teeth 50% Reduced number of teeth 50% Sensorineural hearing impairment 50% Skin ulcer 50% Alopecia 7.5% Melanoma 7.5% Neoplasm of the lung 7.5% Neoplasm of the skin 7.5% Osteolysis 7.5% Seizures 7.5% Alopecia universalis 5% Corneal opacity 5% Hyperhidrosis 5% Opacification of the corneal stroma 5% Sparse hair 5% Autosomal dominant inheritance - Flexion contracture - Nail dysplasia - Nail dystrophy - Parakeratosis - Pruritus - Subungual hyperkeratosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Isovaleric acidemia ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Isovaleric acidemia? Health problems related to isovaleric acidemia range from very mild to life-threatening. In severe cases, the features of isovaleric acidemia become apparent within a few days after birth. The initial symptoms include poor feeding, vomiting, seizures, and lack of energy (lethargy). These symptoms sometimes progress to more serious medical problems, including seizures, coma, and possibly death. A characteristic sign of isovaleric acidemia is a distinctive odor of sweaty feet during acute illness. This odor is caused by the buildup of a compound called isovaleric acid in affected individuals. In other cases, the signs and symptoms of isovaleric acidemia appear during childhood and may come and go over time. Children with this condition may fail to gain weight and grow at the expected rate (failure to thrive) and often have delayed development. In these children, episodes of more serious health problems can be triggered by prolonged periods without food (fasting), infections, or eating an increased amount of protein-rich foods. Some people with gene mutations that cause isovaleric acidemia are asymptomatic, which means they never experience any signs or symptoms of the condition. The Human Phenotype Ontology provides the following list of signs and symptoms for Isovaleric acidemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aminoaciduria 90% Cognitive impairment 90% Seizures 50% Cerebellar hemorrhage 5% Autosomal recessive inheritance - Bone marrow hypocellularity - Coma - Dehydration - Hyperglycinuria - Ketoacidosis - Lethargy - Leukopenia - Metabolic acidosis - Pancytopenia - Thrombocytopenia - Vomiting - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Emphysema ?"}, {"role": "assistant", "content": "Emphysema is a type of COPD involving damage to the air sacs (alveoli) in the lungs. As a result, your body does not get the oxygen it needs. Emphysema makes it hard to catch your breath. You may also have a chronic cough and have trouble breathing during exercise. The most common cause is cigarette smoking. If you smoke, quitting can help prevent you from getting the disease. If you already have emphysema, not smoking might keep it from getting worse. Treatment is based on whether your symptoms are mild, moderate or severe. Treatments include inhalers, oxygen, medications and sometimes surgery to relieve symptoms and prevent complications.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Limb dystonia ?"}, {"role": "assistant", "content": "Limb dystonia is characterized by excessive pulling of the muscles of a limb, such as the hand or foot. The arm or leg might also be involved. Specific symptoms depend on the combinations of muscles involved and how hard each one is pulling. Mild forms may be expressed as stiffness or soreness of a limb; more moderate forms are characterized by unwanted movements or postures; and in severe forms, abnormal postures may become fixed. Common examples of limb dystonia include writer's cramp and musician's dystonia. In most cases, the cause of limb dystonia remains unknown. Treatment is challenging. Botulinum toxin injection, oral medications, and physical therapy may help some patients.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Amyopathic dermatomyositis ?"}, {"role": "assistant", "content": "Amyopathic dermatomyositis is a form of dermatomyositis characterized by the presence of typical skin findings without muscle weakness. Some of the skin changes that suggest dermatomyositis include a pink rash on the face, neck, forearms and upper chest; Gottron's papules and heliotrope eyelids. Pruritis and photosensitivity are common, as is scalp inflammation and thinning of the hair. While patients with amyopathic dermatomyositis should not have clinically evident muscle weakness, minor muscle abnormalities may be included. Fatigue is reported in at least 50% of patients. Some cases have been associated with internal malignancy and/or interstitial lung disease. Treatment may include sun avoidance, ample use of sunscreen, topical corticosteroids, antimalarial agents, methotrexate, mycophenolate mofetil, or intravenous (IV) immunoglobulin.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Grubben de Cock Borghgraef syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Grubben de Cock Borghgraef syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Grubben de Cock Borghgraef syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of eye movement 90% Blue sclerae 90% Cognitive impairment 90% Deviation of finger 90% Dry skin 90% Eczema 90% Muscular hypotonia 90% Round face 90% Seizures 90% Short neck 90% Short palm 90% Autosomal recessive inheritance - Delayed speech and language development - Intrauterine growth retardation - Microdontia - Partial agenesis of the corpus callosum - Postnatal growth retardation - Widely spaced teeth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by Dandy-Walker malformation ?"}, {"role": "assistant", "content": "Dandy-Walker malformation is estimated to affect 1 in 10,000 to 30,000 newborns.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Freiberg's disease ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Freiberg's disease? Common signs and symptoms of Freiberg's disease include pain and stiffness in the front of the foot, which often leads to a limp. People with this condition may also experience swelling, limited range of motion, and tenderness of the affected foot. Some people describe the sensation of walking on something hard, like a stone or a marble. Symptoms are generally triggered by weight-bearing activities, including walking. Occasionally, people with Freiberg's disease have no obvious symptoms of the condition, with changes noted only on X-rays taken for other purposes. Whether these people will later develop symptoms is not known.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Who is at risk for Lung Cancer? ?"}, {"role": "assistant", "content": "Different factors increase or decrease the risk of lung cancer.\n \t\tAnything that increases your chance of getting a disease is called a risk factor. Anything that decreases your chance of getting a disease is called a protective factor. For information about risk factors and protective factors for lung cancer, see the PDQ summary on Lung Cancer Prevention.\n \t\t\t\t\n \t\t\t\t\n\t\t Key Points\n\t\t - Screening tests have risks. - The risks of lung cancer screening tests include the following: - Finding lung cancer may not improve health or help you live longer. - False-negative test results can occur. - False-positive test results can occur. - Chest x-rays and low-dose spiral CT scans expose the chest to radiation. - Talk to your doctor about your risk for lung cancer and your need for screening tests.\n\t\t \n\t\t \n\t\t Screening tests have risks.\n\t\t Decisions about screening tests can be difficult. Not all screening tests are helpful and most have risks. Before having any screening test, you may want to discuss the test with your doctor. It is important to know the risks of the test and whether it has been proven to reduce the risk of dying from cancer.\n\t\t \n\t\t \n\t\t The risks of lung cancer screening tests include the following:\n\t\t Finding lung cancer may not improve health or help you live longer. Screening may not improve your health or help you live longer if you have lung cancer that has already spread to other places in your body. When a screening test result leads to the diagnosis and treatment of a disease that may never have caused symptoms or become life-threatening, it is called overdiagnosis. It is not known if treatment of these cancers would help you live longer than if no treatment were given, and treatments for cancer may have serious side effects. Harms of treatment may happen more often in people who have medical problems caused by heavy or long-term smoking. False-negative test results can occur. Screening test results may appear to be normal even though lung cancer is present. A person who receives a false-negative test result (one that shows there is no cancer when there really is) may delay seeking medical care even if there are symptoms. False-positive test results can occur. Screening test results may appear to be abnormal even though no cancer is present. A false-positive test result (one that shows there is cancer when there really isn't) can cause anxiety and is usually followed by more tests (such as biopsy), which also have risks. A biopsy to diagnose lung cancer can cause part of the lung to collapse. Sometimes surgery is needed to reinflate the lung. Harms of diagnostic tests may happen more often in patients who have medical problems caused by heavy or long-term smoking. Chest x-rays and low-dose spiral CT scans expose the chest to radiation. Radiation exposure from chest x-rays and low-dose spiral CT scans may increase the risk of cancer. Younger people and people at low risk for lung cancer are more likely to develop lung cancer caused by radiation exposure. . Talk to your doctor about your risk for lung cancer and your need for screening tests. Talk to your doctor or other health care provider about your risk for lung cancer, whether a screening test is right for you, and about the benefits and harms of the screening test. You should take part in the decision about whether a screening test is right for you. (See the PDQ summary on Cancer Screening Overview for more information.)", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Multiple pterygium syndrome Escobar type ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Multiple pterygium syndrome Escobar type? Symptoms of multiple pterygium syndrome, Escobar type vary but may include short stature, vertebral (spine) defects, joint contractures, and webbing of the neck, armpit, elbow, knee, between the legs, and of the fingers and toes. The joint contractures may interfere with walking, making walking more difficult. Other symptoms may include down-slanting eyes, skin fold over the inner corner of the eye, a pointed, receding chin, droopy eye lids, and cleft palate. Males with Escobar syndrome may have undescended testicles at birth, and females may have absent labia majora. People with Escobar syndrome may have in-curving of the little finger, joined fingers, and rocker-bottom feet. They may also have kyphoscoliosis and other spine defects, such as fusion of the spine. Abnormal ossicles (the three small bones in the ear) may lead to conductive hearing loss. Other skeletal anomalies include rib fusions, radial head and hip dislocations, talipes calcaneovalgus (the foot points inwards and down) or club foot, and missing or underdeveloped kneecap. The Human Phenotype Ontology provides the following list of signs and symptoms for Multiple pterygium syndrome Escobar type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Amniotic constriction ring 90% Finger syndactyly 90% Limitation of joint mobility 90% Pectus excavatum 90% Scoliosis 90% Symphalangism affecting the phalanges of the hand 90% Webbed neck 90% Abnormality of the foot 50% Aplasia/Hypoplasia of the abdominal wall musculature 50% Aplasia/Hypoplasia of the skin 50% Camptodactyly of finger 50% Epicanthus 50% Facial asymmetry 50% Hypertelorism 50% Intrauterine growth retardation 50% Long face 50% Low-set, posteriorly rotated ears 50% Microcephaly 50% Pointed chin 50% Popliteal pterygium 50% Ptosis 50% Respiratory insufficiency 50% Short stature 50% Telecanthus 50% Umbilical hernia 50% Vertebral segmentation defect 50% Abnormality of female external genitalia 7.5% Abnormality of the abdominal organs 7.5% Abnormality of the aortic valve 7.5% Abnormality of the ribs 7.5% Aortic dilatation 7.5% Aplasia/Hypoplasia of the lungs 7.5% Cleft palate 7.5% Cognitive impairment 7.5% Conductive hearing impairment 7.5% Cryptorchidism 7.5% Dolichocephaly 7.5% Gait disturbance 7.5% Hypoplasia of penis 7.5% Long philtrum 7.5% Low posterior hairline 7.5% Scrotal hypoplasia 7.5% Skeletal muscle atrophy 7.5% Spina bifida occulta 7.5% Strabismus 7.5% Abnormality of the neck - Absence of labia majora - Antecubital pterygium - Anterior clefting of vertebral bodies - Arachnodactyly - Autosomal recessive inheritance - Axillary pterygia - Bilateral camptodactyly - Camptodactyly of toe - Congenital diaphragmatic hernia - Decreased fetal movement - Diaphragmatic eventration - Dislocated radial head - Downturned corners of mouth - Dysplastic patella - Exostosis of the external auditory canal - Fused cervical vertebrae - High palate - Hip dislocation - Hypoplastic nipples - Hypospadias - Inguinal hernia - Intercrural pterygium - Kyphosis - Long clavicles - Low-set ears - Narrow mouth - Neck pterygia - Neonatal respiratory distress - Patellar aplasia - Pulmonary hypoplasia - Rib fusion - Rocker bottom foot - Syndactyly - Talipes calcaneovalgus - Talipes equinovarus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by Waardenburg syndrome ?"}, {"role": "assistant", "content": "Waardenburg syndrome affects an estimated 1 in 40,000 people. It accounts for 2 to 5 percent of all cases of congenital hearing loss. Types I and II are the most common forms of Waardenburg syndrome, while types III and IV are rare.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Alzheimer's Disease ?"}, {"role": "assistant", "content": "Memory problems are typically one of the first signs of Alzheimers disease, though different people may have different initial symptoms. A decline in other aspects of thinking, such as finding the right words, vision/spatial issues, and impaired reasoning or judgment, may also signal the very early stages of Alzheimers disease.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Ovarian Germ Cell Tumors ?"}, {"role": "assistant", "content": "Signs of ovarian germ cell tumor are swelling of the abdomen or vaginal bleeding after menopause. Ovarian germ cell tumors can be hard to diagnose (find) early. Often there are no symptoms in the early stages, but tumors may be found during regular gynecologic exams (checkups). Check with your doctor if you have either of the following: - Swollen abdomen without weight gain in other parts of the body. - Bleeding from the vagina after menopause (when you are no longer having menstrual periods).", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Temporomandibular ankylosis ?"}, {"role": "assistant", "content": "Temporomandibular ankylosis is a condition that occurs when the temporomandibular joint (the joint that connects the jaw to the side of the head) becomes fused by bony or fibrous tissue. As a result, affected people may experience pain, speech impairment, and difficulty chewing and swallowing. It can interfere with nutrition, oral hygiene and the normal growth of the face and/or jaw. Although the condition can be diagnosed in people of all ages, it generally occurs during the first and second decades of life. Temporomandibular ankylosis is most commonly caused by trauma or infection; it may also be associated with certain conditions such as ankylosing spondylitis, rheumatoid arthritis, or psoriasis. The condition is typically treated surgically.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Hashimoto thyroiditis ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of Hashimoto thyroiditis: - American Thyroid Association: Thyroid Function Tests - Genetic Testing Registry: Hashimoto thyroiditis - National Institute of Diabetes and Digestive and Kidney Diseases: Thyroid Function Tests These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Hemolytic Uremic Syndrome in Children ?"}, {"role": "assistant", "content": "A health care provider diagnoses hemolytic uremic syndrome with\n \n- a medical and family history - a physical exam - urine tests - a blood test - a stool test - kidney biopsy\n \nMedical and Family History\n \nTaking a medical and family history is one of the first things a health care provider may do to help diagnose hemolytic uremic syndrome.\n \nPhysical Exam\n \nA physical exam may help diagnose hemolytic uremic syndrome. During a physical exam, a health care provider most often\n \n- examines a child's body - taps on specific areas of the child's body\n \nUrine Tests\n \nA health care provider may order the following urine tests to help determine if a child has kidney damage from hemolytic uremic syndrome.\n \nDipstick test for albumin. A dipstick test performed on a urine sample can detect the presence of albumin in the urine, which could mean kidney damage. The child or caretaker collects a urine sample in a special container in a health care provider's office or a commercial facility. For the test, a nurse or technician places a strip of chemically treated paper, called a dipstick, into the child's urine sample. Patches on the dipstick change color when albumin is present in the urine.\n \nUrine albumin-to-creatinine ratio. A health care provider uses this measurement to estimate the amount of albumin passed into the urine over a 24-hour period. The child provides a urine sample during an appointment with the health care provider. Creatinine is a waste product that is filtered in the kidneys and passed in the urine. A high urine albumin-to-creatinine ratio indicates that the kidneys are leaking large amounts of albumin into the urine.\n \nBlood Test\n \nA blood test involves drawing blood at a health care provider's office or a commercial facility and sending the sample to a lab for analysis. A health care provider will test the blood sample to\n \n- estimate how much blood the kidneys filter eachminute, called the estimated glomerular filtrationrate, or eGFR. The test results help the healthcare provider determine the amount of kidneydamage from hemolytic uremic syndrome. - check red blood cell and platelet levels. - check for liver and kidney function. - assess protein levels in the blood.\n \nStool Test\n \nA stool test is the analysis of a sample of stool. The health care provider will give the child's parent or caretaker a container for catching and storing the stool. The parent or caretaker returns the sample to the health care provider or a commercial facility that will send the sample to a lab for analysis. Stool tests can show the presence of E. coli O157:H7.\n \nKidney Biopsy\n \nBiopsy is a procedure that involves taking a small piece of kidney tissue for examination with a microscope. A health care provider performs the biopsy in an outpatient center or a hospital. The health care provider will give the child light sedation and local anesthetic; however, in some cases, the child will require general anesthesia. A pathologista doctor who specializes in diagnosing diseasesexamines the tissue in a lab. The pathologist looks for signs of kidney disease and infection. The test can help diagnose hemolytic uremic syndrome.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Hemifacial microsomia ?"}, {"role": "assistant", "content": "What causes hemifacial microsomia? For most people with hemifacial microsomia, the cause is unknown. It is believed that something occurs in the early stages of development, such as a disturbance of the blood supply to the first and second branchial arches in the first 6 to 8 weeks of pregnancy. Studies have suggested multiple possible risk factors for hemifacial microsomia. Environmental risk factors include the use of medications during pregnancy such as Accutane, pseudoephedrine, aspirin, or ibuprofen. Other environmental factors include second trimester bleeding, maternal diabetes, being pregnant with multiples, or the use of assisted reproductive technology. A genetic cause is found in some families, such as a chromosome disorder or a genetic syndrome. Some possible explanations when the cause of hemifacial microsomia is unknown include a very small chromosome deletion or duplication that is not detected, a mutation in an unknown gene, or changes in multiple genes associated with development of the face. It is also possible that a combination of genetic changes and environmental risk factors could cause hemifacial microsomia.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Chromosome 3p- syndrome ?"}, {"role": "assistant", "content": "What causes chromosome 3p- syndrome? In most people with chromosome 3p- syndrome, the deletion occurs as a new mutation (called a de novo mutation) and is not inherited from a parent. De novo mutations are due to a random error that occurs during the formation of egg or sperm cells, or shortly after conception. In a few cases, the deletion is inherited from a parent.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for primary myelofibrosis ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of primary myelofibrosis: - Genetic Testing Registry: Myelofibrosis - Merck Manual Professional Version: Primary Myelofibrosis - Myeloproliferative Neoplasm (MPN) Research Foundation: Primary Myelofibrosis (PMF) These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Greig cephalopolysyndactyly syndrome ?"}, {"role": "assistant", "content": "Greig cephalopolysyndactyly syndrome (GCPS) is a congenital disorder that affects development of the limbs, head, and face. Findings might include an extra finger or toe (polydactyly), fusion of the skin between the fingers or toes (syndactyly), widely spaced eyes (ocular hypertelorism), and an abnormally large head size (macrocephaly).The features of this syndrome are highly variable, ranging from polydactyly and syndactyly of the upper and/or lower limbs to seizure, hydrocephalus , and intellectual disability. Progression of GCPS is dependent on severity. Greig cephalopolysyndactyly syndrome is caused by mutations in the GLI3 gene. This condition is inherited in an autosomal dominant pattern. Treatment is symptomatic.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Heart Attack ?"}, {"role": "assistant", "content": "There are many medicines that are used to treat a heart attack. - Clot-busters or thrombolytic drugs dissolve blood clots that are blocking blood flow to the heart. - Beta blockers decrease the workload on your heart by slowing your heart rate. - Angiotensin-converting enzyme (ACE) inhibitors lower your blood pressure and reduce the strain on your heart. - Nitrates, such as nitroglycerin relax blood vessels and relieve chest pain. - Anticoagulants thin the blood and prevent clots from forming in your arteries. - Antiplatelet medications, such as aspirin and clopidogrel, stop platelets from clumping together to form clots. These medications are given to people who have had a heart attack, have angina, or have had angioplasty. Clot-busters or thrombolytic drugs dissolve blood clots that are blocking blood flow to the heart. Beta blockers decrease the workload on your heart by slowing your heart rate. Angiotensin-converting enzyme (ACE) inhibitors lower your blood pressure and reduce the strain on your heart. Nitrates, such as nitroglycerin relax blood vessels and relieve chest pain. Anticoagulants thin the blood and prevent clots from forming in your arteries. Antiplatelet medications, such as aspirin and clopidogrel, stop platelets from clumping together to form clots. These medications are given to people who have had a heart attack, have angina, or have had angioplasty. Doctors may also prescribe medicines to relieve pain and anxiety, or to treat irregular heart rhythms which often occur during a heart attack.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by Shwachman-Diamond syndrome ?"}, {"role": "assistant", "content": "Researchers are not sure how common Shwachman-Diamond syndrome is. Several hundred cases have been reported in scientific studies.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes What I need to know about Hirschsprung Disease ?"}, {"role": "assistant", "content": "Before birth, a childs nerve cells normally grow along the intestines in the direction of the anus. With HD, the nerve cells stop growing too soon. Why the nerve cells stop growing is unclear. Some HD is inherited, meaning it is passed from parent to child through genes. HD is not caused by anything a mother did while pregnant.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Tardive Dyskinesia ?"}, {"role": "assistant", "content": "Treatment is highly individualized. The first step is generally to stop or minimize the use of the neuroleptic drug, but this can be done only under close supervision of the physician.. However, for patients with a severe underlying condition this may not be a feasible option. Replacing the neuroleptic drug with substitute drugs may help some individuals. The only approved drug treatment for tardive dyskenesia is tetrabenazine, which is usually effective but can have side effects that need to be discussed prior to starting therapy. Other drugs such as benzodiazepines, clozapine, or botulinum toxin injections also may be tried.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is 46,XX testicular disorder of sex development inherited ?"}, {"role": "assistant", "content": "SRY-positive 46,XX testicular disorder of sex development is almost never inherited. This condition results from the translocation of a Y chromosome segment containing the SRY gene during the formation of sperm (spermatogenesis). Affected people typically have no history of the disorder in their family and cannot pass on the disorder because they are infertile. In rare cases, the SRY gene may be misplaced onto a chromosome other than the X chromosome. This translocation may be carried by an unaffected father and passed on to a child with two X chromosomes, resulting in 46,XX testicular disorder of sex development. In another very rare situation, a man may carry the SRY gene on both the X and Y chromosome; a child who inherits his X chromosome will develop male sex characteristics despite having no Y chromosome. The inheritance pattern of SRY-negative 46,XX testicular disorder of sex development is unknown. A few families with unaffected parents have had more than one child with the condition, suggesting the possibility of autosomal recessive inheritance. Autosomal recessive means both copies of a gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Ulcerative Colitis ?"}, {"role": "assistant", "content": "The most common signs and symptoms of ulcerative colitis are diarrhea with blood or pus and abdominal discomfort. Other signs and symptoms include\n \n- an urgent need to have a bowel movement - feeling tired - nausea or loss of appetite - weight loss - fever - anemiaa condition in which the body has fewer red blood cells than normal\n \nLess common symptoms include\n \n- joint pain or soreness - eye irritation - certain rashes\n \nThe symptoms a person experiences can vary depending on the severity of the inflammation and where it occurs in the intestine. When symptoms first appear,\n \n- most people with ulcerative colitis have mild to moderate symptoms - about 10 percent of people can have severe symptoms, such as frequent, bloody bowel movements; fevers; and severe abdominal cramping1", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Do you have information about Teen Violence"}, {"role": "assistant", "content": "Summary : Teen violence refers to harmful behaviors that can start early and continue into young adulthood. The young person can be a victim, an offender, or a witness to the violence. Violent acts can include - Bullying - Fighting, including punching, kicking, slapping, or hitting - Use of weapons such as guns or knives Some violent acts can cause more emotional harm than physical harm. Others can lead to serious injury or even death. An important risk factor for violence in teens is the behavior of their friends and classmates. You should know who your kids hang out with and encourage healthy behavior and relationships. Centers for Disease Control and Prevention", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Usher syndrome, type 1E ?"}, {"role": "assistant", "content": "Usher syndrome is a genetic condition characterized by hearing loss or deafness, and progressive vision loss due to retinitis pigmentosa. Three major types of Usher syndrome have been described - types I, II, and III. The different types are distinguished by their severity and the age when signs and symptoms appear. All three types are inherited in an autosomal recessive manner, which means both copies of the disease-causing gene in each cell have mutations.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Hypersensitivity Pneumonitis ?"}, {"role": "assistant", "content": "Hypersensitivity pneumonitis (noo-mo-NI-tis), or HP, is a disease in which the lungs become inflamed from breathing in foreign substances, such as molds, dusts, and chemicals. These substances also are known as antigens (AN-tih-jens).\n \nPeople are exposed to antigens at home, while at work, and in other settings. However, most people who breathe in these substances don't develop HP.\n \nOverview\n \nTo understand HP, it helps to understand how the lungs work. When you breathe, air passes through your nose and mouth into your windpipe. The air then travels to your lungs' air sacs. These sacs are called alveoli (al-VEE-uhl-eye).\n \nSmall blood vessels called capillaries run through the walls of the air sacs. When air reaches the air sacs, the oxygen in the air passes through the air sac walls into the blood in the capillaries. The capillaries connect to a network of arteries and veins that move blood through your body.\n \nIn HP, the air sacs become inflamed and may fill with fluid. This makes it harder for oxygen to pass through the air sacs and into the bloodstream.\n \nThe two main types of HP are acute (short-term) and chronic (ongoing). Both types can develop as a result of repeatedly breathing in an antigen.\n \nOver time, your lungs can become sensitive to that antigen. If this happens, they'll become inflamed, which can lead to symptoms and may even cause long-term lung damage.\n \nWith acute HP, symptoms usually occur within 29 hours of exposure to an antigen you're sensitive to. Acute HP can cause chills, body aches, coughing, and chest tightness. After hours or days of no contact with the antigen, symptoms usually go away.\n \nIf acute HP isn't found and treated early, chronic HP may develop. Symptoms of chronic HP occur slowly, over months. Chronic HP can cause a worsening cough, shortness of breath with physical activity, fatigue (tiredness), and weight loss. Severe HP may cause clubbing (a widening and rounding of the tips of the fingers or toes).\n \nWith chronic HP, symptoms may continue and/or worsen, even after avoiding the antigen. Sometimes, chronic HP can cause long-term lung damage, such as pulmonary fibrosis (PULL-mun-ary fi-BRO-sis). This is a condition in which tissue deep in your lungs becomes scarred over time.\n \nOutlook\n \nAvoiding or reducing your contact with antigens can help prevent and treat HP. For example, cleaning heating and ventilation filters can help reduce your contact with mold. Wetting compost prior to handling it can reduce contact with harmful dust.\n \nIf HP is caught early, avoiding the antigen that caused it may be the only treatment you need. If you have chronic HP, your doctor may prescribe medicines to reduce lung inflammation.\n \nResearchers continue to study why some people develop HP after being exposed to antigens, while others don't. They're also looking for better ways to quickly pinpoint which antigens are causing HP in people who are believed to have the disease.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Split hand/foot malformation X-linked ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Split hand/foot malformation X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Split hand/foot malformation X-linked. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Finger syndactyly - Short metacarpal - Short phalanx of finger - Split foot - Split hand - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes McCune Albright syndrome ?"}, {"role": "assistant", "content": "What causes McCune Albright syndrome? McCune Albright syndrome (MAS) is caused by a change (mutation) in the GNAS gene. This gene provides instructions for making part of a protein that ultimately influences many cell functions by regulating hormone activity. GNAS gene mutations that cause MAS result in a protein that causes the enzyme adenylate cyclase to be constantly turned on. This, in turn, leads to over-production of several hormones, resulting in the signs and symptoms of MAS.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Meesmann corneal dystrophy ?"}, {"role": "assistant", "content": "Meesmann corneal dystrophy is a rare genetic condition affecting the epithelial membrane of the cornea. A slit-lamp examination of the cornea shows diffuse clusters of tiny round cysts in the epithelial membrane. Over time these cysts can rupture and cause erosions. The erosions may result in light sensitivity, redness, and pain. Vision remains good in most, but not all, cases. Meesmann corneal dystrophy can be caused by mutations in the KRT3 or KRT12 gene. It is inherited in an autosomal dominant fashion.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Norum disease inherited ?"}, {"role": "assistant", "content": "How is Norum disease inherited? Norum disease is transmitted as an autosomal recessive trait, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Sporadic cases have also been reported.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by multiple system atrophy ?"}, {"role": "assistant", "content": "Multiple system atrophy has a prevalence of about 2 to 5 per 100,000 people.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Who is at risk for Oropharyngeal Cancer? ?"}, {"role": "assistant", "content": "Smoking or being infected with human papillomavirus can increase the risk of oropharyngeal cancer. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. Talk with your doctor if you think you may be at risk. The most common risk factors for oropharyngeal cancer include the following: - A history of smoking cigarettes for more than 10 pack years and other tobacco use. - Personal history of head and neck cancer. - Heavy alcohol use. - Being infected with human papillomavirus (HPV), especially HPV type 16. The number of cases of oropharyngeal cancers linked to HPV infection is increasing. - Chewing betel quid, a stimulant commonly used in parts of Asia.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) 47 XXX syndrome ?"}, {"role": "assistant", "content": "47 XXX syndrome, also called trisomy X or triple X syndrome, is characterized by the presence of an additional (third) X chromosome in each of a female's cells (which normally have two X chromosomes). An extra copy of the X chromosome is associated with tall stature, learning problems, and other features in some girls and women. Seizures or kidney abnormalities occur in about 10 percent of affected females. 47 XXX syndrome is usually caused by a random event during the formation of reproductive cells (eggs and sperm). An error in cell division called nondisjunction can result in reproductive cells with an abnormal number of chromosomes. Treatment typically focuses on specific symptoms, if present. Some females with 47 XXX syndrome have an extra X chromosome in only some of their cells; this is called 46,XX/47,XXX mosaicism.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Peyronie's Disease ?"}, {"role": "assistant", "content": "A urologist may treat Peyronies disease with nonsurgical treatments or surgery.\n \nThe goal of treatment is to reduce pain and restore and maintain the ability to have intercourse. Men with small plaques, minimal penile curvature, no pain, and satisfactory sexual function may not need treatment until symptoms get worse. Peyronies disease often resolves on its own without treatment.\n \nA urologist may recommend changes in a mans lifestyle to reduce the risk of ED associated with Peyronies disease.\n \nNonsurgical Treatments\n \nNonsurgical treatments include medications and medical therapies.\n \nMedications. A urologist may prescribe medications aimed at decreasing a mans penile curvature, plaque size, and inflammation. A man may take prescribed medications to treat Peyronies disease orallyby mouthor a urologist may inject medications directly into the plaque. Verapamil is one type of topical medication that a man may apply to the skin over the plaque.\n \n- Oral medications. Oral medications may include - vitamin E - potassium para-aminobenzoate (Potaba) - tamoxifen - colchicine - acetyl-L-carnitine - pentoxifylline - Injections. Medications injected directly into plaques may include - verapamil - interferon alpha 2b - steroids - collagenase (Xiaflex)\n \nTo date, collagenase is the first and only medication specifically approved for Peyronies disease.\n \nMedical therapies. A urologist may use medical therapies to break up scar tissue and decrease plaque size and curvature. Therapies to break up scar tissue may include\n \n- high-intensity, focused ultrasound directed at the plaque - radiation therapyhigh-energy rays, such as x rays, aimed at the plaque - shockwave therapyfocused, low-intensity electroshock waves directed at the plaque\n \nA urologist may use iontophoresispainless, low-level electric current that delivers medications through the skin over the plaqueto decrease plaque size and curvature.\n \nA urologist may use mechanical traction and vacuum devices aimed at stretching or bending the penis to reduce curvature.\n \nSurgery\n \nA urologist may recommend surgery to remove plaque or help straighten the penis during an erection. Medical experts recommend surgery for long-term cases when\n \n- symptoms have not improved - erections, intercourse, or both are painful - the curve or bend in the penis does not allow the man to have sexual intercourse\n \nSome men may develop complications after surgery, and sometimes surgery does not correct the effects of Peyronies diseasesuch as shortening of the penis. Some surgical methods can cause shortening of the penis. Medical experts suggest waiting 1 year or more from the onset of symptoms before having surgery because the course of Peyronies disease is different in each man.\n \nA urologist may recommend the following surgeries:\n \n- grafting. A urologist will cut or remove the plaque and attach a patch of skin, a vein, or material made from animal organs in its place. This procedure may straighten the penis and restore some lost length from Peyronies disease. However, some men may experience numbness of the penis and ED after the procedure. - plication. A urologist will remove or pinch a piece of the tunica albuginea from the side of the penis opposite the plaque, which helps to straighten the penis. This procedure is less likely to cause numbness or ED. Plication cannot restore length or girth of the penis and may cause shortening of the penis. - device implantation. A urologist implants a device into the penis that can cause an erection and help straighten it during an erection. Penile implants may be considered if a man has both Peyronies disease and ED. In some cases, an implant alone will straighten the penis adequately. If the implant alone does not straighten the penis, a urologist may combine implantation with one of the other two surgeries. Once a man has an implant, he must use the device to have an erection.\n \nA urologist performs these surgeries in a hospital.\n \nLifestyle Changes\n \nA man can make healthy lifestyle changes to reduce the chance of ED associated with Peyronies disease by\n \n- quitting smoking - reducing alcohol consumption - exercising regularly - avoiding illegal drugs\n \nMore information is provided in the NIDDK health topic, Erectile Dysfunction.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Cluttering ?"}, {"role": "assistant", "content": "Cluttering is a disorder that affects the way a person speaks. It is characterized by a rapid speaking rate and inability to maintain normally expected sound, syllable, phrase, and pausing patterns while speaking. Other symptoms may include stuttering; language or phonological errors (problems organizing sounds); and attention deficits. The disorder seems to result from disorganized speech planning, talking too fast or in spurts, or simply being unsure of what one wants to say. Therapy generally focuses on the symptoms present in each individual and may include slowing the rate of speech and clearly producing speech sounds (articulating). Articulation and language problems are often reduced if the affected individual can achieve a slower rate of speech.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Hyperglycerolemia ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Hyperglycerolemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Hyperglycerolemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis 90% Cognitive impairment 90% EMG abnormality 90% Muscular hypotonia 90% Myopathy 90% Neurological speech impairment 90% Primary adrenal insufficiency 90% Short stature 90% Cryptorchidism 50% EEG abnormality 50% Hyperlordosis 50% Reduced bone mineral density 50% Scoliosis 50% Seizures 50% Abnormal facial shape 7.5% Adrenal insufficiency - Adrenocortical hypoplasia - Coma - Downturned corners of mouth - Episodic vomiting - Frontal bossing - Hypertelorism - Hypertriglyceridemia - Hypoglycemia - Intellectual disability - Ketoacidosis - Lethargy - Low-set ears - Metabolic acidosis - Muscular dystrophy - Osteoporosis - Pathologic fracture - Small for gestational age - Strabismus - X-linked dominant inheritance - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Hemifacial myohyperplasia ?"}, {"role": "assistant", "content": "Hemifacial myohyperplasia (HMH) is a developmental disorder that frequently affects the right side of the face and is commonly seen in males. On the affected side of the face, there are usually enlarged tissues that lead to an abnormal jaw shape. Other features associated with HMH include enlargement of the brain, epilepsy, strabismus, genitourinary system disorders, intellectual disability, and dilation of the pupil on the affected side . Asymmetry of the face is more noticeable with age and remains until the end of adolescence when the asymmetry stabilizes. The cause of HMH is unknown; but theories suggest an imbalance in the endocrine system, neuronal abnormalities, chromosomal abnormalities, random events in twinning and fetal development, and vascular or lymphatic abnormalities.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Rocky Mountain Spotted Fever (RMSF) ?"}, {"role": "assistant", "content": "More detailed information on the diagnosis, management, and treatment of tickborne rickettsial diseases is available in Diagnosis and Management of Tickborne Rickettsial Diseases: Rocky Mountain Spotted Fever, Ehrlichioses, and Anaplasmosis \u2013 United States.\n*Case definitions have been updated since publication \nHow to Contact the Rickettsial Zoonoses Branch at CDC \n \nThe general public and healthcare providers should first call 1-800-CDC-INFO (1-800-232-4636) for questions regarding RMSF and other rickettsial diseases. If a consultation with a CDC scientist specializing in rickettsial diseases is advised, your call will be appropriately forwarded. \nCase Definitions \n \nAs of January 1, 2010, cases of RMSF are reported under a new category called Spotted Fever Rickettsiosis (including Rocky Mountain spotted fever). \n \n \nCase Report Forms \n \nFor confirmed and probable cases of RMSF that have been identified and reported through the National Notifiable Disease Surveillance System, states are also encouraged to submit additional information using CDC Case Report Forms (CRFs). These forms collect additional important information that routine electronic reporting does not, such as information on how the diagnosis was made, and whether the patient was hospitalized or died. If a different state-specific form is already used to collect this information, this information may be submitted to CDC in lieu of CRFs. \n \n \nHow to Submit Specimens to CDC for RMSF Testing \n \nPrivate citizens may not directly submit specimens to CDC for testing. If you feel that diagnostic testing is necessary, consult your healthcare provider or state health department. \nState Health Departments \n \nSpecimens may be submitted to CDC for testing for rickettsial diseases, including RMSF. To coordinate specimen submission, please call 404 639 1075 during business hours (8:00 - 4:30 ET). \nU.S. Healthcare Providers \n \nU.S. healthcare providers should not submit specimens for testing directly to CDC. CDC policy requires that specimens for testing be submitted through or with the approval of the state health department. Please contact your state health department, who will assist you with specimen submission and reporting of an infected patient. For general questions about RMSF, please call 1-800-CDC-INFO (1-800-232-4636). If you have questions about a suspect RMSF case, please first consult your state health department. Healthcare providers requiring an epidemiologic consultation on rickettsial diseases may also call 404-639-1075 during business hours (8:00 - 4:30 ET). Or 770-488-7100 after hours. \nNon-U.S. Healthcare Providers \n \nNon-U.S. healthcare providers should consult CDC prior to submitting specimens for testing. For general questions about RMSF, please call 1-800-CDC-INFO (1-800-232-4636). If you would like to discuss a suspect rickettsial case with CDC, please call 404-639-1075 during business hours (8:00 - 4:30 ET), or 770-488-7100 after hours.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Prescription and Illicit Drug Abuse ?"}, {"role": "assistant", "content": "Although under federal law, marijuana is illegal to use under any circumstance, in some states doctors are allowed to prescribe it for medical use. However, solid data on marijuanas health benefits is lacking, and for smoked marijuana many health experts have concerns about the potential negative effects on the lungs and respiratory system. The U.S. Food and Drug Administration has not approved smoked marijuana to treat any disease. They have approved two medications that are chemically similar to marijuana to treat wasting disease (extreme weight loss) in people with AIDS and to treat nausea and vomiting associated with cancer treatment.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to familial paroxysmal nonkinesigenic dyskinesia ?"}, {"role": "assistant", "content": "Mutations in the PNKD gene cause familial paroxysmal nonkinesigenic dyskinesia. The function of the protein produced from the PNKD gene is unknown; however, it is similar to a protein that helps break down a chemical called methylglyoxal. Methylglyoxal is found in alcoholic beverages, coffee, tea, and cola. Research has demonstrated that this chemical has a toxic effect on nerve cells (neurons). It remains unclear if the PNKD gene is related to the breakdown of methlglyoxal. How mutations in the PNKD gene lead to the signs and symptoms of familial paroxysmal nonkinesigenic dyskinesia is also unknown.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for VACTERL association ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of VACTERL association: - MedlinePlus Encyclopedia: Tracheoesophageal Fistula and Esophageal Atresia Repair These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Do you have information about Electromagnetic Fields"}, {"role": "assistant", "content": "Summary : Electric and magnetic fields (EMFs) are areas of energy that surround electrical devices. Everyday sources of EMFs include - Power lines - Electrical wiring - Microwave ovens - Computers - Cell phones Some people worry about EMF exposure and cancer. Some studies have found a link between EMF exposure and a higher risk of childhood leukemia, but other studies have not. Other studies have not found proof that EMF exposure causes other childhood cancers. Studies in adults did not prove that EMF exposure causes cancer. Some people worry that wireless and cellular phones cause cancer. They give off radio-frequency energy (RF), a form of electromagnetic radiation. Scientists need to do more research on this before they can say for sure. NIH: National Institute of Environmental Health Sciences", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Anemia due to Adenosine triphosphatase deficiency ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Anemia due to Adenosine triphosphatase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Anemia due to Adenosine triphosphatase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Nonspherocytic hemolytic anemia 5% Autosomal dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Friedreich ataxia ?"}, {"role": "assistant", "content": "Friedreich ataxia is a genetic condition that affects the nervous system and causes movement problems. People with this condition develop impaired muscle coordination (ataxia) that worsens over time. Other features of this condition include the gradual loss of strength and sensation in the arms and legs, muscle stiffness (spasticity), and impaired speech. Individuals with Friedreich ataxia often have a form of heart disease called hypertrophic cardiomyopathy that enlarges and weakens the heart muscle. Some affected individuals develop diabetes, impaired vision, hearing loss, or an abnormal curvature of the spine (scoliosis). Most people with Friedreich ataxia begin to experience the signs and symptoms of the disorder around puberty. Poor balance when walking and slurred speech are often the first noticeable features. Affected individuals typically require the use of a wheelchair about 10 years after signs and symptoms appear. About 25 percent of people with Friedreich ataxia have an atypical form that begins after age 25. Affected individuals who develop Friedreich ataxia between ages 26 and 39 are considered to have late-onset Friedreich ataxia (LOFA). When the signs and symptoms begin after age 40 the condition is called very late-onset Friedreich ataxia (VLOFA). LOFA and VLOFA usually progress more slowly than typical Friedreich ataxia.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Dystonia 6, torsion ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Dystonia 6, torsion? The Human Phenotype Ontology provides the following list of signs and symptoms for Dystonia 6, torsion. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Incomplete penetrance 60% Myoclonus 5% Abnormality of the head - Autosomal dominant inheritance - Dysarthria - Laryngeal dystonia - Limb dystonia - Oromandibular dystonia - Torsion dystonia - Torticollis - Writer's cramp - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Neuronal Migration Disorders ?"}, {"role": "assistant", "content": "Treatment is symptomatic, and may include anti-seizure medication and special or supplemental education consisting of physical, occupational, and speech therapies.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Adult Hodgkin Lymphoma ?"}, {"role": "assistant", "content": "Key Points\n - Adult Hodgkin lymphoma is a disease in which malignant (cancer) cells form in the lymph system. - There are two main types of Hodgkin lymphoma: classical and nodular lymphocyte-predominant. - Age, gender, and Epstein-Barr infection can affect the risk of adult Hodgkin lymphoma. - Signs of adult Hodgkin lymphoma include swollen lymph nodes, fever, night sweats, and weight loss. - Tests that examine the lymph nodes are used to detect (find) and diagnose adult Hodgkin lymphoma. - Certain factors affect prognosis (chance of recovery) and treatment options.\n \n \n Adult Hodgkin lymphoma is a disease in which malignant (cancer) cells form in the lymph system.\n Adult Hodgkin lymphoma is a type of cancer that develops in the lymph system, part of the body's immune system. The immune system protects the body from foreign substances, infection, and diseases. The lymph system is made up of the following: - Lymph: Colorless, watery fluid that carries white blood cells called lymphocytes through the lymph system. Lymphocytes protect the body against infections and the growth of tumors. - Lymph vessels: A network of thin tubes that collect lymph from different parts of the body and return it to the bloodstream. - Lymph nodes: Small, bean-shaped structures that filter lymph and store white blood cells that help fight infection and disease. Lymph nodes are located along the network of lymph vessels found throughout the body. Clusters of lymph nodes are found in the neck, underarm, abdomen, pelvis, and groin. - Spleen: An organ that makes lymphocytes, filters the blood, stores blood cells, and destroys old blood cells. It is located on the left side of the abdomen near the stomach. - Thymus: An organ in which lymphocytes grow and multiply. The thymus is in the chest behind the breastbone. - Tonsils: Two small masses of lymph tissue at the back of the throat. The tonsils make lymphocytes. - Bone marrow: The soft, spongy tissue in the center of large bones. Bone marrow makes white blood cells, red blood cells, and platelets. Lymph tissue is also found in other parts of the body such as the stomach, thyroid gland, brain, and skin. Cancer can spread to the liver and lungs. Lymphomas are divided into two general types: Hodgkin lymphoma and non-Hodgkin lymphoma. This summary is about the treatment of adult Hodgkin lymphoma. (See the PDQ summary on Adult Non-Hodgkin Lymphoma Treatment for more information.) Hodgkin lymphoma can occur in both adults and children. Treatment for adults is different than treatment for children. Hodgkin lymphoma may also occur in patients who have acquired immunodeficiency syndrome (AIDS); these patients require special treatment. See the following PDQ summaries for more information: - Childhood Hodgkin Lymphoma Treatment - AIDS-Related Lymphoma Treatment Hodgkin lymphoma in pregnant women is the same as the disease in nonpregnant women of childbearing age. However, treatment is different for pregnant women. This summary includes information about treating Hodgkin lymphoma during pregnancy.\n \n \n There are two main types of Hodgkin lymphoma: classical and nodular lymphocyte-predominant.\n Most Hodgkin lymphomas are the classical type. The classical type is broken down into the following four subtypes: - Nodular sclerosing Hodgkin lymphoma. - Mixed cellularity Hodgkin lymphoma. - Lymphocyte depletion Hodgkin lymphoma. - Lymphocyte-rich classical Hodgkin lymphoma.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Polycystic Ovary Syndrome ?"}, {"role": "assistant", "content": "Polycystic ovary syndrome (PCOS) happens when a woman's ovaries or adrenal glands produce more male hormones than normal. One result is that cysts (fluid-filled sacs) develop on the ovaries. Women who are obese are more likely to have polycystic ovary syndrome. Symptoms of PCOS include: - Infertility - Pelvic pain - Excess hair growth on the face, chest, stomach, thumbs, or toes - Baldness or thinning hair - Acne, oily skin, or dandruff - Patches of thickened dark brown or black skin Women with PCOS are at higher risk of diabetes, metabolic syndrome, heart disease, and high blood pressure. Medicines can help control the symptoms. Birth control pills help women have normal periods, reduce male hormone levels, and clear acne. Other medicines can reduce hair growth and control blood pressure and cholesterol. There is no cure. NIH: National Institute of Child Health and Human Development", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "what research (or clinical trials) is being done for Sturge-Weber Syndrome ?"}, {"role": "assistant", "content": "The NINDS supports a broad program of research to better understand congenital seizure disorders. This research is aimed at developing techniques to diagnose, treat, prevent, and ultimately cure disorders such as Sturge-Weber syndrome.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Ainhum ?"}, {"role": "assistant", "content": "Ainhum is the autoamputation of a finger or toe as a result of a fibrotic band that constricts the finger or toe until it falls off. Ainhum most often affects the fifth toe on both feet. Ainhum is believed to be triggered by some sort of trauma, but the exact reason why it happens is not well understood. The condition mainly affects people that live in tropical regions.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is pseudocholinesterase deficiency inherited ?"}, {"role": "assistant", "content": "When due to genetic causes, this condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive disorder have one copy of the altered gene in each cell and are called carriers. They can pass on the gene mutation to their children, but they do not usually experience signs and symptoms of the disorder. In some cases, carriers of BCHE gene mutations take longer than usual to clear choline ester drugs from the body, but not as long as those with two copies of the altered gene in each cell.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Lesch Nyhan syndrome ?"}, {"role": "assistant", "content": "Lesch Nyhan syndrome is a condition characterized by neurological and behavioral abnormalities and the overproduction of uric acid in the body. It occurs almost exclusively in males. Signs and symptoms may include inflammatory arthritis (gout), kidney stones, bladder stones, and moderate cognitive disability. Nervous system and behavioral disturbances also occur, such as involuntary muscle movements and self injury (including biting and head banging). People with Lesch Nyhan syndrome usually cannot walk, require assistance sitting, and generally use a wheelchair. Lesch Nyhan syndrome is caused by changes (mutations) in the HPRT1 gene and is inherited in an X-linked recessive manner. Treatment is symptomatic and supportive. Affected people often do not survive past the first or second decade of life due to renal failure.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Summitt syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Summitt syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Summitt syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Brachydactyly syndrome 90% Clinodactyly of the 5th finger 90% Craniosynostosis 90% Epicanthus 90% Finger syndactyly 90% Genu valgum 90% Hypertelorism 90% Macrocephaly 90% Narrow face 90% Obesity 90% Plagiocephaly 90% Prominent metopic ridge 90% Tall stature 90% Abnormality of the metacarpal bones 50% Depressed nasal ridge 50% Strabismus 50% Cryptorchidism 7.5% Depressed nasal bridge 7.5% Hypoplasia of penis 7.5% Low-set, posteriorly rotated ears 7.5% Autosomal recessive inheritance - Oxycephaly - Syndactyly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to cerebral cavernous malformation ?"}, {"role": "assistant", "content": "Mutations in at least three genes, KRIT1 (also known as CCM1), CCM2, and PDCD10 (also known as CCM3), cause familial cerebral cavernous malformations. The precise functions of these genes are not fully understood. Studies show that the proteins produced from these genes are found in the junctions connecting neighboring blood vessel cells. The proteins interact with each other as part of a complex that strengthens the interactions between cells and limits leakage from the blood vessels. Mutations in any of the three genes impair the function of the protein complex, resulting in weakened cell-to-cell junctions and increased leakage from vessels as seen in cerebral cavernous malformations. Mutations in these three genes account for 85 to 95 percent of all cases of familial cerebral cavernous malformations. The remaining 5 to 15 percent of cases may be due to mutations in unidentified genes or to other unknown causes. Mutations in the KRIT1, CCM2, and PDCD10 genes are not involved in sporadic cerebral cavernous malformations. The cause of this form of the condition is unknown.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to hereditary neuralgic amyotrophy ?"}, {"role": "assistant", "content": "Mutations in the SEPT9 gene cause hereditary neuralgic amyotrophy. The SEPT9 gene provides instructions for making a protein called septin-9, which is part of a group of proteins called septins. Septins are involved in a process called cytokinesis, which is the step in cell division when the fluid inside the cell (cytoplasm) divides to form two separate cells. The SEPT9 gene seems to be turned on (active) in cells throughout the body. Approximately 15 slightly different versions (isoforms) of the septin-9 protein may be produced from this gene. Some types of cells make certain isoforms, while other cell types produce other isoforms. However, the specific distribution of these isoforms in the body's tissues is not well understood. Septin-9 isoforms interact with other septin proteins to perform some of their functions. Mutations in the SEPT9 gene may change the sequence of protein building blocks (amino acids) in certain septin-9 isoforms in ways that interfere with their function. These mutations may also change the distribution of septin-9 isoforms and their interactions with other septin proteins in some of the body's tissues. This change in the functioning of septin proteins seems to particularly affect the brachial plexus, but the reason for this is unknown. Because many of the triggers for hereditary neuralgic amyotrophy also affect the immune system, researchers believe that an autoimmune reaction may be involved in this disorder. However, the relation between SEPT9 mutations and immune function is unclear. Autoimmune disorders occur when the immune system malfunctions and attacks the body's own tissues and organs. An autoimmune attack on the nerves in the brachial plexus likely results in the signs and symptoms of hereditary neuralgic amyotrophy. At least 15 percent of families affected by hereditary neuralgic amyotrophy do not have SEPT9 gene mutations. In these cases, the disorder is believed to be caused by mutations in a gene that has not been identified.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for African iron overload ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of African iron overload: - Genetic Testing Registry: African nutritional hemochromatosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for polymicrogyria ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of polymicrogyria: - Gene Review: Gene Review: Polymicrogyria Overview - Genetic Testing Registry: Congenital bilateral perisylvian syndrome - Genetic Testing Registry: Polymicrogyria, asymmetric - Genetic Testing Registry: Polymicrogyria, bilateral frontoparietal - Genetic Testing Registry: Polymicrogyria, bilateral occipital These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is persistent Mllerian duct syndrome inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. However, persistent Mllerian duct syndrome affects only males. Females with two mutated copies of the gene do not show signs and symptoms of the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Delirium ?"}, {"role": "assistant", "content": "Delirium is a condition that features rapidly changing mental states. It causes confusion and changes in behavior. Besides falling in and out of consciousness, there may be problems with - Attention and awareness - Thinking and memory - Emotion - Muscle control - Sleeping and waking Causes of delirium include medications, poisoning, serious illnesses or infections, and severe pain. It can also be part of some mental illnesses or dementia. Delirium and dementia have similar symptoms, so it can be hard to tell them apart. They can also occur together. Delirium starts suddenly and can cause hallucinations. The symptoms may get better or worse, and can last for hours or weeks. On the other hand, dementia develops slowly and does not cause hallucinations. The symptoms are stable, and may last for months or years. Delirium tremens is a serious type of alcohol withdrawal syndrome. It usually happens to people who stop drinking after years of alcohol abuse. People with delirium often, though not always, make a full recovery after their underlying illness is treated.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by holocarboxylase synthetase deficiency ?"}, {"role": "assistant", "content": "The exact incidence of this condition is unknown, but it is estimated to affect 1 in 87,000 people.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Adult Primary Liver Cancer ?"}, {"role": "assistant", "content": "Key Points\n - Adult primary liver cancer is a disease in which malignant (cancer) cells form in the tissues of the liver. - There are two types of adult primary liver cancer. - Having hepatitis or cirrhosis can affect the risk of adult primary liver cancer. - Signs and symptoms of adult primary liver cancer include a lump or pain on the right side. - Tests that examine the liver and the blood are used to detect (find) and diagnose adult primary liver cancer. - Certain factors affect prognosis (chance of recovery) and treatment options.\n \n \n Adult primary liver cancer is a disease in which malignant (cancer) cells form in the tissues of the liver.\n The liver is one of the largest organs in the body. It has four lobes and fills the upper right side of the abdomen inside the rib cage. Three of the many important functions of the liver are: - To filter harmful substances from the blood so they can be passed from the body in stools and urine. - To make bile to help digest fat that comes from food. - To store glycogen (sugar), which the body uses for energy.\n \n \n There are two types of adult primary liver cancer.\n The two types of adult primary liver cancer are: - Hepatocellular carcinoma. - Cholangiocarcinoma (bile duct cancer). (See the PDQ summary on Bile Duct Cancer Treatment for more information.) The most common type of adult primary liver cancer is hepatocellular carcinoma. This type of liver cancer is the third leading cause of cancer-related deaths worldwide. This summary is about the treatment of primary liver cancer (cancer that begins in the liver). Treatment of cancer that begins in other parts of the body and spreads to the liver is not covered in this summary. Primary liver cancer can occur in both adults and children. However, treatment for children is different than treatment for adults. (See the PDQ summary on Childhood Liver Cancer Treatment for more information.)", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Febrile infection-related epilepsy syndrome ?"}, {"role": "assistant", "content": "Febrile infection-related epilepsy syndrome (FIRES) is a severe brain disorder that develops in children after a fever. This condition results in sudden seizures and leads to declines in memory and intellectual ability. FIRES can also cause psychiatric disorders or problems with motor skills. The cause of FIRES is unknown, but may be related to infection, genetic susceptibility, an autoimmune disorder, or a problem with metabolism. Treatment involves antiepileptic medications to manage seizures, but they do not usually work well.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Camurati-Engelmann disease ?"}, {"role": "assistant", "content": "Camurati-Engelmann disease is a genetic condition that mainly affects the bones. People with this disease have increased bone density, particularly affecting the long bones of the arms and legs. In some cases, the skull and hip bones are also affected. The thickened bones can lead to pain in the arms and legs, a waddling walk, muscle weakness, and extreme tiredness. The age at which affected individuals first experience symptoms varies greatly; however, most people with this condition develop pain or weakness by adolescence. Camurati-Engelmann disease is caused by a mutation in the TGFB1 gene which is inherited in an autosomal dominant fashion. In some instances, people have the gene mutation that causes Camurati-Engelmann disease but never develop the characteristic features of this condition. In others, features are present, but a mutation cannot be identified. These cases are referred to as Camurati-Engelmann disease type II. Treatment for Camurati-Engelman disease depends on many factors including the signs and symptoms present in each person and the severity of the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Atelosteogenesis type 1 ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Atelosteogenesis type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Atelosteogenesis type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) 11 pairs of ribs - Aplasia/Hypoplasia of the ulna - Brachydactyly syndrome - Cleft palate - Clubbing - Club-shaped proximal femur - Coronal cleft vertebrae - Cryptorchidism - Depressed nasal bridge - Distal tapering femur - Elbow dislocation - Encephalocele - Fibular aplasia - Frontal bossing - Fused cervical vertebrae - Hypoplasia of midface - Laryngeal stenosis - Malar flattening - Multinucleated giant chondrocytes in epiphyseal cartilage - Narrow chest - Neonatal death - Polyhydramnios - Premature birth - Proptosis - Radial bowing - Rhizomelia - Short femur - Short humerus - Short metacarpal - Short metatarsal - Short neck - Short nose - Sporadic - Stillbirth - Talipes equinovarus - Thoracic platyspondyly - Tibial bowing - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Russell-Silver syndrome ?"}, {"role": "assistant", "content": "Russell-Silver syndrome (RSS) is a congenital disorder that causes poor growth; low birth weight; short height; and size differences (asymmetry) of parts of the body. Other signs and symptoms may include poor appetite; low blood sugar (hypoglycemia) due to feeding difficulties; a small, triangular face with distinctive facial features; clinodactyly (curved finger); digestive system abnormalities; delayed development; and/or learning disabilities. The genetic causes of RSS are complex and relate to certain genes that control growth. Most cases are not inherited from a parent and occur sporadically. In rare cases, it may be inherited in an autosomal dominant or autosomal recessive manner.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Epilepsy ?"}, {"role": "assistant", "content": "Epilepsy is a brain disorder that causes people to have recurring seizures. The seizures happen when clusters of nerve cells, or neurons, in the brain send out the wrong signals. People may have strange sensations and emotions or behave strangely. They may have violent muscle spasms or lose consciousness. Epilepsy has many possible causes, including illness, brain injury, and abnormal brain development. In many cases, the cause is unknown. Doctors use brain scans and other tests to diagnose epilepsy. It is important to start treatment right away. There is no cure for epilepsy, but medicines can control seizures for most people. When medicines are not working well, surgery or implanted devices such as vagus nerve stimulators may help. Special diets can help some children with epilepsy. NIH: National Institute of Neurological Disorders and Stroke", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Whipple Disease ?"}, {"role": "assistant", "content": "Signs and symptoms of Whipple disease can vary widely from person to person. The most common symptoms of Whipple disease are\n \n- diarrhea - weight loss caused by malabsorption\n \nA person may not have diarrhea. Instead, other signs and symptoms of Whipple disease may appear, such as\n \n- abnormal yellow and white patches on the lining of the small intestine - joint pain, with or without inflammation, that may appear off and on for years before other symptoms - fatty or bloody stools - abdominal cramps or bloating felt between the chest and groin - enlarged lymph nodesthe small glands that make infection-fighting white blood cells - loss of appetite - fever - fatigue, or feeling tired - weakness - darkening of the skin\n \nPeople with a more advanced stage of Whipple disease may have neurologic symptomsthose related to the central nervous systemsuch as\n \n- vision problems. - memory problems or personality changes. - facial numbness. - headaches. - muscle weakness or twitching. - difficulty walking. - hearing loss or ringing in the ears. - dementiathe name for a group of symptoms caused by disorders that affect the brain. People with dementia may not be able to think well enough to do normal activities such as getting dressed or eating.\n \nLess common symptoms of Whipple disease may include\n \n- chronic cough. - chest pain. - pericarditisinflammation of the membrane surrounding the heart. - heart failurea long-lasting condition in which the heart cannot pump enough blood to meet the bodys needs. Heart failure does not mean the heart suddenly stops working.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Farber's disease ?"}, {"role": "assistant", "content": "Farber's disease is an inherited condition involving the breakdown and use of fats in the body (lipid metabolism). People with this condition have an abnormal accumulation of lipids (fat) throughout the cells and tissues of the body, particularly around the joints. Farber's disease is characterized by three classic symptoms: a hoarse voice or weak cry, small lumps of fat under the skin and in other tissues (lipogranulomas), and swollen and painful joints. Other symptoms may include difficulty breathing, an enlarged liver and spleen (hepatosplenomegaly), and developmental delay. Researchers have described seven types of Farber's disease based on their characteristic features. This condition is caused by mutations in the ASAH1 gene and is inherited in an autosomal recessive manner.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to hereditary myopathy with early respiratory failure ?"}, {"role": "assistant", "content": "HMERF can be caused by a mutation in the TTN gene. This gene provides instructions for making a protein called titin. Titin plays an important role in muscles the body uses for movement (skeletal muscles) and in heart (cardiac) muscle. Within muscle cells, titin is an essential component of structures called sarcomeres. Sarcomeres are the basic units of muscle contraction; they are made of proteins that generate the mechanical force needed for muscles to contract. Titin has several functions within sarcomeres. One of its most important jobs is to provide structure, flexibility, and stability to these cell structures. Titin also plays a role in chemical signaling and in assembling new sarcomeres. The TTN gene mutation responsible for HMERF leads to the production of an altered version of the titin protein. Studies suggest that this change may disrupt titin's interactions with other proteins within sarcomeres and interfere with the protein's role in chemical signaling. Consequently, muscle fibers become damaged and weaken over time. It is unclear why these effects are usually limited to proximal muscles and muscles involved in breathing. Some people with the characteristic features of HMERF do not have identified mutations in the TTN gene. In these cases, the genetic cause of the condition is unknown.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to prevent Crimean-Congo Hemorrhagic Fever (CCHF) ?"}, {"role": "assistant", "content": "Agricultural workers and others working with animals should use insect repellent on exposed skin and clothing. Insect repellants containing DEET (N, N-diethyl-m-toluamide) are the most effective in warding off ticks. Wearing gloves and other protective clothing is recommended. Individuals should also avoid contact with the blood and body fluids of livestock or humans who show symptoms of infection. It is important for healthcare workers to use proper infection control precautions to prevent occupational exposure. \n \nAn inactivated, mouse-brain derived vaccine against CCHF has been developed and is used on a small scale in Eastern Europe. However, there is no safe and effective vaccine currently available for human use. Further research is needed to develop these potential vaccines as well as determine the efficacy of different treatment options including ribavirin and other antiviral drugs.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Proteus-like syndrome ?"}, {"role": "assistant", "content": "Proteus-like syndrome describes people who do not meet the diagnostic criteria for Proteus syndrome but who share many of the characteristic signs and symptoms associated with the condition. Affected people may experience some of the following features: overgrowth of the bones, skin, and other tissues; hamartomas; abnormalities of the skin, blood vessels (vascular tissue) and fat (adipose tissue); and distinctive facial features. Approximately 50% of people with Proteus-like syndrome are found to have changes (mutations) in the PTEN gene. In these cases, the inheritance is autosomal dominant. Treatment is based on the signs and symptoms present in each person.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) familial male-limited precocious puberty ?"}, {"role": "assistant", "content": "Familial male-limited precocious puberty is a condition that causes early sexual development in males; females are not affected. Boys with this disorder begin exhibiting the signs of puberty in early childhood, between the ages of 2 and 5. Signs of male puberty include a deepening voice, acne, increased body hair, underarm odor, growth of the penis and testes, and spontaneous erections. Changes in behavior, such as increased aggression and early interest in sex, may also occur. Without treatment, affected boys grow quickly at first, but they stop growing earlier than usual. As a result, they tend to be shorter in adulthood compared with other members of their family.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to metachromatic leukodystrophy ?"}, {"role": "assistant", "content": "Most individuals with metachromatic leukodystrophy have mutations in the ARSA gene, which provides instructions for making the enzyme arylsulfatase A. This enzyme is located in cellular structures called lysosomes, which are the cell's recycling centers. Within lysosomes, arylsulfatase A helps break down sulfatides. A few individuals with metachromatic leukodystrophy have mutations in the PSAP gene. This gene provides instructions for making a protein that is broken up (cleaved) into smaller proteins that assist enzymes in breaking down various fats. One of these smaller proteins is called saposin B; this protein works with arylsulfatase A to break down sulfatides. Mutations in the ARSA or PSAP genes result in a decreased ability to break down sulfatides, resulting in the accumulation of these substances in cells. Excess sulfatides are toxic to the nervous system. The accumulation gradually destroys myelin-producing cells, leading to the impairment of nervous system function that occurs in metachromatic leukodystrophy. In some cases, individuals with very low arylsulfatase A activity show no symptoms of metachromatic leukodystrophy. This condition is called pseudoarylsulfatase deficiency.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Amyloidosis and Kidney Disease ?"}, {"role": "assistant", "content": "A health care provider diagnoses dialysis-related amyloidosis with\n \n- urinalysis - blood tests - imaging tests\n \nA health care provider can use urinalysis and blood tests to detect the amount of amyloid proteins in urine and blood. Imaging tests, such as x-rays and CT scans, can provide pictures of bone cysts and amyloid deposits in bones, joints, tendons, and ligaments. An x-ray technician performs imaging tests in a health care providers office, an outpatient center, or a hospital. A radiologista doctor who specializes in medical imaginginterprets the images. A patient does not require anesthesia.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "what research (or clinical trials) is being done for Pancreatic Cancer ?"}, {"role": "assistant", "content": "New types of treatment are being tested in clinical trials.\n This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. Biologic therapy Biologic therapy is a treatment that uses the patients immune system to fight cancer. Substances made by the body or made in a laboratory are used to boost, direct, or restore the bodys natural defenses against cancer. This type of cancer treatment is also called biotherapy or immunotherapy.\n \n \n Patients may want to think about taking part in a clinical trial.\n For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward.\n \n \n Patients can enter clinical trials before, during, or after starting their cancer treatment.\n Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Congenital laryngeal palsy ?"}, {"role": "assistant", "content": "What are the signs and symptoms associated with congenital laryngeal paralysis? The following online resources provide information on the signs and symptoms of congenital laryngeal paralysis: National Institute on Deafness and Other Communication Disorders- Vocal Fold Paralysis Medscape Reference - Congenital Malformations of the Larynx", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for CADASIL ?"}, {"role": "assistant", "content": "How might CADASIL be treated? There is currently no treatment for CADASIL that is proven to be effective. While antiplatelet treatment is often used, it is also not proven to be useful. Migraine should be treated both symptomatically and prophylactically (with preventative methods), depending on the frequency of symptoms. When hypertension, diabetes or hypercholesterolemia (high cholesterol) are also present, they should be treated. Supportive care, including practical help, emotional support, and counseling, is useful for affected people and their families. Smoking increases the risk of stroke, so affected people who smoke should quit.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for MYH7-related scapuloperoneal myopathy ?"}, {"role": "assistant", "content": "How might scapuloperoneal myopathy be treated? There is no standard course of treatment for scapuloperoneal myopathy. Some patients may benefit from physical therapy or other therapeutic exercises.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Tracheobronchopathia osteoplastica ?"}, {"role": "assistant", "content": "How might tracheobronchopathia osteoplastica be treated? There is no specific treatment for tracheobronchopathia osteoplastica (TO). Recurrent infections and collapse of the lung are treated conventionally. Inhaled corticosteroids may have some impact on people in early stages of the condition, but whether they may be helpful for people with more advanced disease needs further study. Occasionally, tracheostomy may be needed. Surgical treatment options may be considered when all conservative therapies have been unsuccessful. The long-term outlook (prognosis) for affected people is generally good, but usually depends on the extension and location of the lesions. It has been reported that over 55% of affected people do not have any disease progression following the diagnosis.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is 22q13.3 deletion syndrome inherited ?"}, {"role": "assistant", "content": "Most cases of 22q13.3 deletion syndrome are not inherited. The deletion occurs most often as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. Affected people typically have no history of the disorder in their family, though they can pass the chromosome deletion to their children. When 22q13.3 deletion syndrome is inherited, its inheritance pattern is considered autosomal dominant because a deletion in one copy of chromosome 22 in each cell is sufficient to cause the condition. About 15 to 20 percent of people with 22q13.3 deletion syndrome inherit a chromosome abnormality from an unaffected parent. In these cases, the parent carries a chromosomal rearrangement called a balanced translocation, in which a segment from one chromosome has traded places with a segment from another chromosome, but no genetic material is gained or lost. Balanced translocations usually do not cause any health problems; however, they can become unbalanced as they are passed to the next generation. Children who inherit an unbalanced translocation can have a chromosomal rearrangement with extra or missing genetic material. Individuals with 22q13.3 deletion syndrome who inherit an unbalanced translocation are missing genetic material from the long arm of chromosome 22, which results in the health problems characteristic of this disorder.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Schwannomatosis inherited ?"}, {"role": "assistant", "content": "Is schwannomatosis inherited? Approximately 15% percent of all schwannomatosis cases are thought to be inherited. In these cases, the condition is thought to be inherited in an autosomal dominant manner with highly variable expressivity and reduced penetrance. This means that a person only needs a change (mutation) in one copy of the responsible gene in each cell to have a genetic predisposition to the tumors associated with schwannomatosis. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene. These cases occur in people with no history of the disorder in their family. People with an inherited form of schwannomatosis have a 50% chance with each pregnancy of passing the condition on to the next generation.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to complete LCAT deficiency ?"}, {"role": "assistant", "content": "Complete LCAT deficiency is caused by mutations in the LCAT gene. This gene provides instructions for making an enzyme called lecithin-cholesterol acyltransferase (LCAT). The LCAT enzyme plays a role in removing cholesterol from the blood and tissues by helping it attach to molecules called lipoproteins, which carry it to the liver. Once in the liver, the cholesterol is redistributed to other tissues or removed from the body. The enzyme has two major functions, called alpha- and beta-LCAT activity. Alpha-LCAT activity helps attach cholesterol to a lipoprotein called high-density lipoprotein (HDL). Beta-LCAT activity helps attach cholesterol to other lipoproteins called very low-density lipoprotein (VLDL) and low-density lipoprotein (LDL). LCAT gene mutations that cause complete LCAT deficiency either prevent the production of LCAT or impair both alpha-LCAT and beta-LCAT activity, reducing the enzyme's ability to attach cholesterol to lipoproteins. Impairment of this mechanism for reducing cholesterol in the body leads to cholesterol deposits in the corneas, kidneys, and other tissues and organs. LCAT gene mutations that affect only alpha-LCAT activity cause a related disorder called fish-eye disease that affects only the corneas.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Noonan-like syndrome with loose anagen hair ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Noonan-like syndrome with loose anagen hair? The Human Phenotype Ontology provides the following list of signs and symptoms for Noonan-like syndrome with loose anagen hair. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair quantity 90% Delayed skeletal maturation 90% Low posterior hairline 90% Low-set, posteriorly rotated ears 90% Short nose 90% Short stature 90% Webbed neck 90% Abnormality of the pulmonary artery 50% Anteverted nares 50% Aplasia/Hypoplasia of the eyebrow 50% Deep philtrum 50% Epicanthus 50% Hydrocephalus 50% Hypertrophic cardiomyopathy 50% Macrotia 50% Pectus excavatum 50% Abnormality of the elbow 7.5% Abnormality of the fingernails 7.5% Abnormality of the intervertebral disk 7.5% Abnormality of the palate 7.5% Brachydactyly syndrome 7.5% Carious teeth 7.5% Cognitive impairment 7.5% Cryptorchidism 7.5% Hearing impairment 7.5% Hypertelorism 7.5% Hypoplastic toenails 7.5% Thick lower lip vermilion 7.5% Thin vermilion border 7.5% Eczema 5% Ichthyosis 5% Nasal speech 5% Atria septal defect - Autosomal dominant inheritance - Hyperactivity - Intellectual disability - Loose anagen hair - Low-set ears - Macrocephaly - Posteriorly rotated ears - Prominent forehead - Pulmonic stenosis - Short neck - Sparse scalp hair - Strabismus - Ventricular septal defect - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Zollinger-Ellison Syndrome ?"}, {"role": "assistant", "content": "Experts do not know the exact cause of Zollinger-Ellison syndrome. About 25 to 30 percent of gastrinomas are caused by an inherited genetic disorder called multiple endocrine neoplasia type 1 (MEN1).1 MEN1 causes hormone-releasing tumors in the endocrine glands and the duodenum. Symptoms of MEN1 include increased hormone levels in the blood, kidney stones, diabetes, muscle weakness, weakened bones, and fractures.\n \nMore information about MEN1 is provided in the NIDDK health topic, Multiple Endocrine Neoplasia Type 1.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is junctional epidermolysis bullosa inherited ?"}, {"role": "assistant", "content": "Both types of junctional epidermolysis bullosa are inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) genitopatellar syndrome ?"}, {"role": "assistant", "content": "Genitopatellar syndrome is a rare condition characterized by genital abnormalities, missing or underdeveloped kneecaps (patellae), intellectual disability, and abnormalities affecting other parts of the body. The genital abnormalities in affected males typically include undescended testes (cryptorchidism) and underdevelopment of the scrotum. Affected females can have an enlarged clitoris (clitoromegaly) and small labia. Missing or underdeveloped patellae is the most common skeletal abnormality associated with genitopatellar syndrome. Affected individuals may have additional skeletal problems, including joint deformities (contractures) involving the hips and knees or an inward- and upward-turning foot called a clubfoot. Bone abnormalities of the spine, ribs, collarbone (clavicle), and pelvis have also been reported. Genitopatellar syndrome is also associated with delayed development and intellectual disability, which are often severe. Affected individuals may have an usually small head (microcephaly) and structural brain abnormalities, including underdeveloped or absent tissue connecting the left and right halves of the brain (agenesis of the corpus callosum). People with genitopatellar syndrome may have distinctive facial features such as prominent cheeks and eyes, a nose with a rounded tip or a broad bridge, an unusually small chin (micrognathia) or a chin that protrudes (prognathism), and a narrowing of the head at the temples. Many affected infants have weak muscle tone (hypotonia) that leads to breathing and feeding difficulties. The condition can also be associated with abnormalities of the heart, kidneys, and teeth.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is mal de Meleda inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Abdominal Adhesions ?"}, {"role": "assistant", "content": "Abdominal adhesions are bands of fibrous tissue that can form between abdominal tissues and organs. Normally, internal tissues and organs have slippery surfaces, preventing them from sticking together as the body moves. However, abdominal adhesions cause tissues and organs in the abdominal cavity to stick together.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Achard syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Achard syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Achard syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Arachnodactyly - Autosomal dominant inheritance - Brachycephaly - Broad skull - Joint laxity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Diabetes ?"}, {"role": "assistant", "content": "Many people with diabetes experience one or more symptoms, including extreme thirst or hunger, a frequent need to urinate and/or fatigue. Some lose weight without trying. Additional signs include sores that heal slowly, dry, itchy skin, loss of feeling or tingling in the feet and blurry eyesight. Some people with diabetes, however, have no symptoms at all.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Branchiooculofacial syndrome ?"}, {"role": "assistant", "content": "Branchiooculofacial syndrome (BOFS) is a very rare genetic disorder that is apparent at birth. Only about 50 cases of BOFS had been reported in the medical literature. Like its name implies, BOFS is characterized by skin defects, eye abnormalities, and distinctive facial features. Among the reported cases thus far, the symptoms may vary from mild to severe. BOFS is caused by mutations in the TFAP2A gene and inherited as an autosomal dominant trait.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Who is at risk for Lymphocytic Choriomeningitis (LCM)? ?"}, {"role": "assistant", "content": "LCMV infections can occur after exposure to fresh urine, droppings, saliva, or nesting materials from infected rodents. Transmission may also occur when these materials are directly introduced into broken skin, the nose, the eyes, or the mouth, or presumably, via the bite of an infected rodent. Person-to-person transmission has not been reported, with the exception of vertical transmission from infected mother to fetus, and rarely, through organ transplantation.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Vestibulocochlear dysfunction, progressive ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Vestibulocochlear dysfunction, progressive? The Human Phenotype Ontology provides the following list of signs and symptoms for Vestibulocochlear dysfunction, progressive. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Gait disturbance 90% Sensorineural hearing impairment 90% Abnormality of the nervous system - Autosomal dominant inheritance - Progressive hearing impairment - Tinnitus - Vestibular areflexia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to spinal muscular atrophy with progressive myoclonic epilepsy ?"}, {"role": "assistant", "content": "SMA-PME is caused by mutations in the ASAH1 gene. This gene provides instructions for making an enzyme called acid ceramidase. This enzyme is found in lysosomes, which are cell compartments that digest and recycle materials. Within lysosomes, acid ceramidase breaks down fats called ceramides into a fat called sphingosine and a fatty acid. These two breakdown products are recycled to create new ceramides for the body to use. Ceramides have several roles within cells. For example, they are a component of a fatty substance called myelin that insulates and protects nerve cells. ASAH1 gene mutations that cause SMA-PME result in a reduction of acid ceramidase activity to a level less than one-third of normal. Inefficient breakdown of ceramides and impaired production of its breakdown products likely play a role in the nerve cell damage that leads to the features of SMA-PME, but the exact mechanism is unknown.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to myofibrillar myopathy ?"}, {"role": "assistant", "content": "Mutations in several genes can cause myofibrillar myopathy. These genes provide instructions for making proteins that play important roles in muscle fibers. Within muscle fibers, these proteins are involved in the assembly of structures called sarcomeres. Sarcomeres are necessary for muscles to tense (contract). The proteins associated with myofibrillar myopathy are normally active on rod-like structures within the sarcomere called Z-discs. Z-discs link neighboring sarcomeres together to form myofibrils, the basic unit of muscle fibers. The linking of sarcomeres and formation of myofibrils provide strength for muscle fibers during repeated muscle contraction and relaxation. Gene mutations that cause myofibrillar myopathy disrupt the function of skeletal and cardiac muscle. Various muscle proteins form clumps (aggregates) in the muscle fibers of affected individuals. The aggregates prevent these proteins from functioning normally, which reduces linking between neighboring sarcomeres. As a result, muscle fiber strength is diminished. At least six genes have been associated with myofibrillar myopathy. Mutations in these six genes account for approximately half of all cases of this condition. Mutations in the DES, MYOT, and LDB3 genes are responsible for the majority of cases of myofibrillar myopathy when the genetic cause is known.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to prevent Atrial Fibrillation ?"}, {"role": "assistant", "content": "Following a healthy lifestyle and taking steps to lower your risk for heart disease may help you prevent atrial fibrillation (AF). These steps include:\n \nFollowing a heart healthy diet that's low in saturated fat, trans fat, and cholesterol. A healthy diet includes a variety of whole grains, fruits, and vegetables daily.\n \nNot smoking.\n \nBeing physically active.\n \nMaintaining a healthy weight.\n \nIf you already have heart disease or other AF risk factors, work with your doctor to manage your condition. In addition to adopting the healthy habits above, which can help control heart disease, your doctor may advise you to: \n \nFollow the DASH eating plan to help lower your blood pressure.\n \nKeep your cholesterol and triglycerides at healthy levels with dietary changes and medicines (if prescribed).\n \nLimit or avoid alcohol.\n \nControl your blood sugar level if you have diabetes.\n \nGet ongoing medical care and take your medicines as prescribed.\n \nFor more information about following a healthy lifestyle, visit the National Heart, Lung, and Blood Institute's Aim for a Healthy Weight Web site, \"Your Guide to a Healthy Heart,\" \"Your Guide to Lowering Your Blood Pressure With DASH,\" and \"Your Guide to Physical Activity and Your Heart.\"", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of High Blood Cholesterol ?"}, {"role": "assistant", "content": "High blood cholesterol usually does not have any signs or symptoms. Many people don't know that their cholesterol levels are too high. Who Should Be Tested Everyone age 20 and older should have their cholesterol levels checked at least once every 5 years. If your cholesterol level is high, you will have to be tested more often. You and your doctor should discuss how often you should be tested. Your doctor will take a sample of blood from a vein in your arm and send it to the laboratory to find out the level of cholesterol in your blood. Cholesterol Tests The recommended test is called a fasting lipoprotein profile. It will show your - total cholesterol - LDL (bad) cholesterol, the main source of cholesterol buildup and blockage in your arteries - HDL (good) cholesterol, which helps keep cholesterol from building up in your arteries - triglycerides, another form of fat in your blood. total cholesterol LDL (bad) cholesterol, the main source of cholesterol buildup and blockage in your arteries HDL (good) cholesterol, which helps keep cholesterol from building up in your arteries triglycerides, another form of fat in your blood. You should not eat or drink anything except water or black coffee for 9 to 12 hours before taking the test. If you can't have a lipoprotein profile done, a different blood test will tell you your total cholesterol and HDL (good) cholesterol levels. You do not have to fast before this test. If this test shows that your total cholesterol is 200 mg/dL or higher, or that your HDL (good) cholesterol is less than 40 mg/dL, you will need to have a lipoprotein profile done. Cholesterol levels are measured in milligrams (mg) of cholesterol per deciliter (dL) of blood. The levels of blood cholesterol that are most important to know appear below. Ranges for Total Cholesterol Levels Here are the ranges for total cholesterol levels. Do you know how your cholesterol numbers compare? Ranges for LDL Cholesterol Levels Here are the ranges for LDL cholesterol levels. Do you know how your LDL cholesterol level compares? Ranges for HDL Cholesterol Levels Here are the ranges for HDL cholesterol levels. Do you know how your HDL cholesterol level compares? Triglyceride Levels A lipoprotein profile will also show the level of triglycerides in your blood. Triglycerides are another kind of fat that your liver makes. They can also signal an increased chance of developing heart disease. Normal levels of triglycerides are less than 150 mg/dl. If your triglyceride levels are borderline high (150-199 mg/dL) or high (200 mg/dL or more), you may need treatment. Things that can increase your triglyceride levels include - overweight - physical inactivity - cigarette smoking - excessive alcohol use - diabetes. overweight physical inactivity cigarette smoking excessive alcohol use diabetes. Other things that can increase your triglyceride levels include - a very high carbohydrate diet - certain diseases and drugs - genetic disorders. a very high carbohydrate diet certain diseases and drugs genetic disorders.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What to do for Hypoglycemia ?"}, {"role": "assistant", "content": "Two types of hypoglycemia can occur in people who do not have diabetes:\n \n- Reactive hypoglycemia, also called postprandial hypoglycemia, occurs within 4 hours after meals. - Fasting hypoglycemia, also called postabsorptive hypoglycemia, is often related to an underlying disease.\n \nSymptoms of both reactive and fasting hypoglycemia are similar to diabetes-related hypoglycemia. Symptoms may include hunger, sweating, shakiness, dizziness, light-headedness, sleepiness, confusion, difficulty speaking, anxiety, and weakness.\n \nTo find the cause of a patient's hypoglycemia, the doctor will use laboratory tests to measure blood glucose, insulin, and other chemicals that play a part in the body's use of energy.\n \nReactive Hypoglycemia\n \nDiagnosis\n \nTo diagnose reactive hypoglycemia, the doctor may\n \n- ask about signs and symptoms - test blood glucose while the patient is having symptoms by taking a blood sample from the arm and sending it to a laboratory for analysis* - check to see whether the symptoms ease after the patient's blood glucose returns to 70 mg/dL or above after eating or drinking\n \nA blood glucose level below 70 mg/dL at the time of symptoms and relief after eating will confirm the diagnosis. The oral glucose tolerance test is no longer used to diagnose reactive hypoglycemia because experts now know the test can actually trigger hypoglycemic symptoms.\n \nCauses and Treatment\n \nThe causes of most cases of reactive hypoglycemia are still open to debate. Some researchers suggest that certain people may be more sensitive to the body's normal release of the hormone epinephrine, which causes many of the symptoms of hypoglycemia. Others believe deficiencies in glucagon secretion might lead to reactive hypoglycemia.\n \nA few causes of reactive hypoglycemia are certain, but they are uncommon. Gastricor stomachsurgery can cause reactive hypoglycemia because of the rapid passage of food into the small intestine. Rare enzyme deficiencies diagnosed early in life, such as hereditary fructose intolerance, also may cause reactive hypoglycemia.\n \nTo relieve reactive hypoglycemia, some health professionals recommend\n \n- eating small meals and snacks about every 3 hours - being physically active - eating a variety of foods, including meat, poultry, fish, or nonmeat sources of protein; starchy foods such as whole-grain bread, rice, and potatoes; fruits; vegetables; and dairy products - eating foods high in fiber - avoiding or limiting foods high in sugar, especially on an empty stomach\n \nThe doctor can refer patients to a registered dietitian for personalized meal planning advice. Although some health professionals recommend a diet high in protein and low in carbohydrates, studies have not proven the effectiveness of this kind of diet to treat reactive hypoglycemia.\n \nFasting Hypoglycemia\n \nDiagnosis\n \nFasting hypoglycemia is diagnosed from a blood sample that shows a blood glucose level below 50 mg/dL after an overnight fast, between meals, or after physical activity.\n \nCauses and Treatment\n \nCauses of fasting hypoglycemia include certain medications, alcoholic beverages, critical illnesses, hormonal deficiencies, some kinds of tumors, and certain conditions occurring in infancy and childhood.\n \nMedications. Medications, including some used to treat diabetes, are the most common cause of hypoglycemia. Other medications that can cause hypoglycemia include\n \n- salicylates, including aspirin, when taken in large doses - sulfa medications, which are used to treat bacterial infections - pentamidine, which treats a serious kind of pneumonia - quinine, which is used to treat malaria\n \nIf using any of these medications causes a person's blood glucose level to fall, the doctor may advise stopping the medication or changing the dose.\n \nAlcoholic beverages. Drinking alcoholic beverages, especially binge drinking, can cause hypoglycemia. The body's breakdown of alcohol interferes with the liver's efforts to raise blood glucose. Hypoglycemia caused by excessive drinking can be serious and even fatal.\n \nCritical illnesses. Some illnesses that affect the liver, heart, or kidneys can cause hypoglycemia. Sepsis, which is an overwhelming infection, and starvation are other causes of hypoglycemia. In these cases, treating the illness or other underlying cause will correct the hypoglycemia.\n \nHormonal deficiencies. Hormonal deficiencies may cause hypoglycemia in very young children, but rarely in adults. Shortages of cortisol, growth hormone, glucagon, or epinephrine can lead to fasting hypoglycemia. Laboratory tests for hormone levels will determine a diagnosis and treatment. Hormone replacement therapy may be advised.\n \nTumors. Insulinomas are insulin-producing tumors in the pancreas. Insulinomas can cause hypoglycemia by raising insulin levels too high in relation to the blood glucose level. These tumors are rare and do not normally spread to other parts of the body. Laboratory tests can pinpoint the exact cause. Treatment involves both short-term steps to correct the hypoglycemia and medical or surgical measures to remove the tumor.\n \nConditions occurring in infancy and childhood. Children rarely develop hypoglycemia. If they do, causes may include the following:\n \n- Brief intolerance to fasting, often during an illness that disturbs regular eating patterns. Children usually outgrow this tendency by age 10. - Hyperinsulinism, which is the overproduction of insulin. This condition can result in temporary hypoglycemia in newborns, which is common in infants of mothers with diabetes. Persistent hyperinsulinism in infants or children is a complex disorder that requires prompt evaluation and treatment by a specialist. - Enzyme deficiencies that affect carbohydrate metabolism. These deficiencies can interfere with the body's ability to process natural sugars, such as fructose and galactose, glycogen, or other metabolites. - Hormonal deficiencies such as lack of pituitary or adrenal hormones.\n \n\n \n*A personal blood glucose monitor cannot be used to diagnose reactive hypoglycemia.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Neurofibromatosis type 1 inherited ?"}, {"role": "assistant", "content": "How is neurofibromatosis type 1 inherited? Neurofibromatosis type 1 (NF1) is inherited in an autosomal dominant manner. This means that a person only needs a change (mutation) in one copy of the responsible gene in each cell to have a genetic predisposition to the tumors associated with NF1. In approximately half of cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene; these cases occur in people with no history of the disorder in their family. A person with NF1 has a 50% chance with each pregnancy of passing along the altered gene to his or her child.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Hepatitis B ?"}, {"role": "assistant", "content": "Your liver is the largest organ inside your body. It helps your body digest food, store energy, and remove poisons. Hepatitis is an inflammation of the liver. One type, hepatitis B, is caused by the hepatitis B virus (HBV). Hepatitis B spreads by contact with an infected person's blood, semen, or other body fluid. An infected woman can give hepatitis B to her baby at birth. If you get HBV, you may feel as if you have the flu. You may also have jaundice, a yellowing of skin and eyes, dark-colored urine, and pale bowel movements. Some people have no symptoms at all. A blood test can tell if you have it. HBV usually gets better on its own after a few months. If it does not get better, it is called chronic HBV, which lasts a lifetime. Chronic HBV can lead to scarring of the liver, liver failure, or liver cancer. There is a vaccine for HBV. It requires three shots. All babies should get the vaccine, but older children and adults can get it too. If you travel to countries where Hepatitis B is common, you should get the vaccine. NIH: National Institute of Diabetes and Digestive and Kidney Diseases", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is adiposis dolorosa inherited ?"}, {"role": "assistant", "content": "Most cases of adiposis dolorosa are sporadic, which means they occur in people with no history of the disorder in their family. A small number of familial cases of adiposis dolorosa have been reported. When the condition runs in families, it appears to have an autosomal dominant pattern of inheritance because affected individuals inherit the condition from one affected parent. This pattern of inheritance suggests that one copy of an altered gene in each cell is sufficient to cause the disorder.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Rotor syndrome inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an autosomal recessive pattern. In autosomal recessive inheritance, both copies of a gene in each cell have mutations. In Rotor syndrome, an affected individual must have mutations in both the SLCO1B1 and the SLCO1B3 gene, so both copies of the two genes are altered. The parents of an individual with this condition each carry one altered copy of both genes, but they do not show signs and symptoms of the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by nephrogenic diabetes insipidus ?"}, {"role": "assistant", "content": "The prevalence of nephrogenic diabetes insipidus is unknown, although the condition is thought to be rare. The acquired form occurs more frequently than the hereditary form.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Hereditary neuralgic amyotrophy ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Hereditary neuralgic amyotrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary neuralgic amyotrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Arthralgia 90% EMG abnormality 90% Muscle weakness 90% Polyneuropathy 90% Paresthesia 50% Sprengel anomaly 50% Acrocyanosis 7.5% Narrow mouth 7.5% Neurological speech impairment 7.5% Oral cleft 7.5% Respiratory insufficiency 7.5% Round face 7.5% Short stature 7.5% Sleep disturbance 7.5% Hyporeflexia 5% Autosomal dominant inheritance - Axonal degeneration - Blepharophimosis - Brachial plexus neuropathy - Cleft palate - Deeply set eye - Depressed nasal bridge - Epicanthus - Facial asymmetry - Hypotelorism - Low-set ears - Peripheral neuropathy - Ptosis - Skeletal muscle atrophy - Upslanted palpebral fissure - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Macrodactyly of the hand ?"}, {"role": "assistant", "content": "Macrodactyly of the hand is a rare condition in which a person's fingers are abnormally large due to the overgrowth of the underlying bone and soft tissue. This condition is congenital, meaning that babies are born with it. Although babies are born with the condition, macrodactyly is usually not inherited. Most of the time, only one hand is affected, but usually more than one finger is involved. Macrodactyly may also coexist with syndactyly, a condition in which two fingers are fused together. Although it is a benign condition, macrodactyly is deforming and can look cosmetically displeasing. Surgery, usually involving multiple procedures, can help the problem.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Peripheral Arterial Disease (P.A.D.) ?"}, {"role": "assistant", "content": "Here are links to more information about P.A.D. from the National Heart, Lung, and Blood Institute. - What Is Peripheral Arterial Disease? - Atherosclerosis - The DASH Eating Plan - Facts about P.A.D. - Facts about P.A.D. (Spanish) - Facts About P.A.D. for African Americans - Keep the Beat: Heart Healthy Recipes - Smoking and Your Heart - Your Guide to Physical Activity and Your Heart - Stay in Circulation: Take Steps to Learn about P.A.D. - Stay in Circulation: Take Steps to Learn about P.A.D. Wallet Card - Your Guide to Lowering Your Blood Pressure with DASH - Your Guide to Lowering Your Cholesterol with TLC What Is Peripheral Arterial Disease? Atherosclerosis The DASH Eating Plan Facts about P.A.D. Facts about P.A.D. (Spanish) Facts About P.A.D. for African Americans Keep the Beat: Heart Healthy Recipes Smoking and Your Heart Your Guide to Physical Activity and Your Heart Stay in Circulation: Take Steps to Learn about P.A.D. Stay in Circulation: Take Steps to Learn about P.A.D. Wallet Card Your Guide to Lowering Your Blood Pressure with DASH Your Guide to Lowering Your Cholesterol with TLC For print resources and materials on P.A.D. visit http://www.nhlbi.nih.gov/health/public/heart/pad/index.html", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Chronic Myeloid Leukemia ?"}, {"role": "assistant", "content": "Leukemia is cancer of the white blood cells. White blood cells help your body fight infection. Your blood cells form in your bone marrow. In leukemia, the bone marrow produces abnormal white blood cells. These cells crowd out the healthy blood cells, making it hard for blood to do its work. In chronic myeloid leukemia (CML), there are too many granulocytes, a type of white blood cell. Most people with CML have a gene mutation (change) called the Philadelphia chromosome. Sometimes CML does not cause any symptoms. If you have symptoms, they may include: - Fatigue - Weight loss - Night sweats - Fever - Pain or a feeling of fullness below the ribs on the left side Tests that examine the blood and bone marrow diagnose CML. Treatments include chemotherapy, stem cell transplants, infusion of donated white blood cells following stem cell transplants, surgery to remove the spleen, and biologic and targeted therapies. Biologic therapy boosts your body's own ability to fight cancer. Targeted therapy uses substances that attack cancer cells without harming normal cells. NIH: National Cancer Institute", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Do you have information about Sports Fitness"}, {"role": "assistant", "content": "Summary : Sports can be a great way to get in shape or stay that way. Having a specific goal can be a great motivator. Physically, you need strength and endurance. Your training will vary with your sport. You would not train the same way for pole vaulting as for swimming. You might, however, cross train. Cross training simply means that you include a variety of fitness activities in your program. Research shows that cross training builds stronger bones. Remember to listen to your body. If you frequently feel exhausted or you are in pain, you may be overdoing it. Injuries can be the result. And be sure that you use your body and your equipment safely. What you eat and drink is also important. Water is the most important nutrient for active people. Drink it before, during and after workouts.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Pendred syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Pendred syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Pendred syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Sensorineural hearing impairment 90% Goiter 50% Hypothyroidism 50% Cognitive impairment 7.5% Hyperparathyroidism 7.5% Incoordination 7.5% Neoplasm of the thyroid gland 7.5% Nephropathy 7.5% Neurological speech impairment 7.5% Respiratory insufficiency 7.5% Tracheal stenosis 7.5% Vertigo 7.5% Abnormality of metabolism/homeostasis - Autosomal recessive inheritance - Cochlear malformation - Compensated hypothyroidism - Congenital sensorineural hearing impairment - Intellectual disability - Thyroid carcinoma - Vestibular dysfunction - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by frontonasal dysplasia ?"}, {"role": "assistant", "content": "Frontonasal dysplasia is likely a rare condition; at least 100 cases have been reported in the scientific literature.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Multiple System Atrophy ?"}, {"role": "assistant", "content": "Multiple system atrophy (MSA) is a progressive neurodegenerative disorder characterized by symptoms of autonomic nervous system failure such as fainting spells and bladder control problems, combined with motor control symptoms such as tremor, rigidity, and loss of muscle coordination. MSA affects both men and women primarily in their 50s. Although what causes MSA is unknown, the disorder's symptoms reflect the loss of nerve cells in several different areas in the brain and spinal cord that control the autonomic nervous system and coordinate muscle movements. The loss of nerve cells may be due to the buildup of a protein called alpha-synuclein in the cells that support nerve cells in the brain.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to Danon disease ?"}, {"role": "assistant", "content": "Danon disease is caused by mutations in the LAMP2 gene. The LAMP2 gene provides instructions for making a protein called lysosomal associated membrane protein-2 (LAMP-2), which, as its name suggests, is found in the membrane of cellular structures called lysosomes. Lysosomes are compartments in the cell that digest and recycle materials. The role the LAMP-2 protein plays in the lysosome is unclear. Some researchers think the LAMP-2 protein may help transport cellular materials or digestive enzymes into the lysosome. The transport of cellular materials into lysosomes requires the formation of cellular structures called autophagic vacuoles (or autophagosomes), which then attach (fuse) to lysosomes. The LAMP-2 protein may be involved in the fusion between autophagic vacuoles and lysosomes. Mutations in the LAMP2 gene lead to the production of very little or no LAMP-2 protein, which may impair the process of transporting cellular material into the lysosome. Some studies have shown that in cells without the LAMP-2 protein, fusion between autophagic vacuoles and lysosomes occurs more slowly, which may lead to the accumulation of autophagic vacuoles. People with Danon disease have an abnormally large number of autophagic vacuoles in their muscle cells. It is possible that this accumulation leads to breakdown of the muscle cells, causing the muscle weakness seen in Danon disease.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Lipodermatosclerosis ?"}, {"role": "assistant", "content": "How might lipodermatosclerosis be treated? Lipodermatosclerosis is primarily treated with compression therapy to improve venous insufficiency. Other strategies for managing venous insufficiency include leg elevation; not sitting or standing in one place for long periods of time; regular exercise; and weight loss if overweight or obese. Some affected people may require medications to prevent blood clotting; reduce pain and inflammation; and/or increase blood flow. Depending on the severity of the condition and the response to initial treatments, vein surgery may be recommended.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Hemophagocytic lymphohistiocytosis ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Hemophagocytic lymphohistiocytosis? The signs and symptoms of hemophagocytic lymphohistiocytosis typically develop during the first months or years of life. However, in rare cases, affected people may not show symptoms until later in childhood or even into adulthood. The features of this condition may include: Fever Enlarged liver and/or spleen Skin rash Lymph node enlargement Breathing problems Easy bruising and/or abnormal bleeding Kidney abnormalities Heart problems Increased risk for certain cancers (leukemia, lymphoma) Many people with this condition also develop neurologic abnormalities. The neurological symptoms vary but may include irritability, fatigue, abnormal muscle tone, seizures, neck stiffness, mental status changes, ataxia, blindness, paralysis, and/or coma. The Human Phenotype Ontology provides the following list of signs and symptoms for Hemophagocytic lymphohistiocytosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Reduced natural killer cell activity 13/13 Granulocytopenia 11/14 Neutropenia 5/7 Abnormal natural killer cell physiology - Anemia - Ataxia - Autosomal recessive inheritance - Coma - CSF pleocytosis - Encephalitis - Episodic fever - Failure to thrive - Fever - Generalized edema - Hemiplegia - Hemophagocytosis - Hepatomegaly - Hepatosplenomegaly - Hyperbetalipoproteinemia - Hypertonia - Hypertriglyceridemia - Hypoalbuminemia - Hypoalphalipoproteinemia - Hypofibrinogenemia - Hyponatremia - Hypoproteinemia - Increased circulating very-low-density lipoprotein cholesterol - Increased CSF protein - Increased intracranial pressure - Increased serum ferritin - Increased total bilirubin - Irritability - Jaundice - Leukopenia - Lymphadenopathy - Meningitis - Muscular hypotonia - Prolonged partial thromboplastin time - Prolonged prothrombin time - Seizures - Splenomegaly - Tetraplegia - Thrombocytopenia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for spastic paraplegia type 2 ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of spastic paraplegia type 2: - Gene Review: Gene Review: Hereditary Spastic Paraplegia Overview - Gene Review: Gene Review: PLP1-Related Disorders - Genetic Testing Registry: Spastic paraplegia 2 - Spastic Paraplegia Foundation, Inc.: Treatments and Therapies These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to cleidocranial dysplasia ?"}, {"role": "assistant", "content": "The RUNX2 gene provides instructions for making a protein that is involved in bone and cartilage development and maintenance. This protein is a transcription factor, which means it attaches (binds) to specific regions of DNA and helps control the activity of particular genes. Researchers believe that the RUNX2 protein acts as a \"master switch,\" regulating a number of other genes involved in the development of cells that build bones (osteoblasts). Some mutations change one protein building block (amino acid) in the RUNX2 protein. Other mutations introduce a premature stop signal that results in an abnormally short protein. Occasionally, the entire gene is missing. These genetic changes reduce or eliminate the activity of the protein produced from one copy of the RUNX2 gene in each cell, decreasing the total amount of functional RUNX2 protein. This shortage of functional RUNX2 protein interferes with normal bone and cartilage development, resulting in the signs and symptoms of cleidocranial dysplasia. In rare cases, affected individuals may experience additional, unusual symptoms resulting from the loss of other genes near RUNX2. In about one-third of individuals with cleidocranial dysplasia, no mutation in the RUNX2 gene has been found. The cause of the condition in these individuals is unknown.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Laron syndrome inherited ?"}, {"role": "assistant", "content": "Most cases of Laron syndrome are inherited in an autosomal recessive pattern, which means both copies of the GHR gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Much less commonly, the condition has an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most of these cases, an affected person has one parent with the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Factor XIII deficiency ?"}, {"role": "assistant", "content": "Factor XIII deficiency is an extremely rare inherited blood disorder characterized by abnormal blood clotting that may result in abnormal bleeding. Signs and symptoms occur as the result of a deficiency in the blood clotting factor 13, which is responsible for stabilizing the formation of a blood clot. In affected individuals, the blood fails to clot appropriately, resulting in poor wound healing. Blood may seep into surrounding soft tissues, resulting in local pain and swelling. Internal bleeding may occur; about 25 percent of affected individuals experience bleeding in the brain. FXIII deficiency is usually caused by mutations in the F13A1 gene, but mutations have also been found in the F13B gene. It is usually inherited in an autosomal recessive fashion. Acquired forms have also been reported in association with liver failure, inflammatory bowel disease, and myeloid leukemia.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Bowel Incontinence ?"}, {"role": "assistant", "content": "Bowel incontinence is the inability to control your bowels. When you feel the urge to have a bowel movement, you may not be able to hold it until you get to a toilet. Millions of Americans have this problem. It affects people of all ages - children and adults. It is more common in women and older adults. It is not a normal part of aging. Causes include - Constipation - Damage to muscles or nerves of the anus and rectum - Diarrhea - Pelvic support problems Treatments include changes in diet, medicines, bowel training, or surgery. NIH: National Institute of Diabetes and Digestive and Kidney Diseases", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by adiposis dolorosa ?"}, {"role": "assistant", "content": "Adiposis dolorosa is a rare condition whose prevalence is unknown. For reasons that are unclear, it occurs up to 30 times more often in women than in men.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Multiple endocrine neoplasia type 2B ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Multiple endocrine neoplasia type 2B? The Human Phenotype Ontology provides the following list of signs and symptoms for Multiple endocrine neoplasia type 2B. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the skin - Aganglionic megacolon - Autosomal dominant inheritance - Colonic diverticula - Constipation - Diarrhea - Disproportionate tall stature - Elevated calcitonin - Elevated urinary epinephrine - Failure to thrive in infancy - Ganglioneuroma - High palate - Hyperlordosis - Joint laxity - Kyphosis - Medullary thyroid carcinoma - Muscular hypotonia - Myopathy - Nodular goiter - Parathyroid hyperplasia - Pectus excavatum - Pes cavus - Pheochromocytoma - Proximal femoral epiphysiolysis - Scoliosis - Thick eyebrow - Thick lower lip vermilion - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by Barth syndrome ?"}, {"role": "assistant", "content": "Barth syndrome is estimated to affect 1 in 300,000 to 400,000 individuals worldwide. More than 150 cases have been described in the scientific literature.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Laron syndrome ?"}, {"role": "assistant", "content": "How might Laron syndrome be treated? There is currently no cure for Laron syndrome. Treatment is primarily focused on improving growth. The only specific treatment available for this condition is subcutaneous injections of insulin-like growth factor 1 (a growth-promoting hormone), often called IGF-1. IGF-1 stimulates linear growth (height) and also improves brain growth and metabolic abnormalities caused by long-term IGF-1 deficiency. It has also been shown to raise blood glucose levels, reduce cholesterol, and increase muscle growth. IGF-1 and GH levels should be closely monitored in people undergoing this treatment because overdosage of IGF-I causes a variety of health problems.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "what research (or clinical trials) is being done for Metachromatic Leukodystrophy ?"}, {"role": "assistant", "content": "The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge of the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. The NINDS is a part of the National Institutes of Health (NIH), the leading supporter of biomedical research in the world. Research funded by the NINDS focuses on better understanding how neurological defects arise in lipid storage disorders and on the development of new treatments targeting disease mechanisms, including gene therapies, cell-based therapies, and pharmacological approaches. NINDS-funded preclinical research aims to study the effectiveness and safety of virus-based delivery of the normal ARSA gene to promote gene expression throughout the central nervous system and overcome the mutation-caused deficiency. If successful, the project could lead to trials in humans. Other research hopes to study the use of patient-specific induced pluripotent stem cells (cells that are capable of becoming other types of cells) in correcting the gene deficiency in metachromatic leukodystrophy.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Constipation ?"}, {"role": "assistant", "content": "Constipation means that a person has three or fewer bowel movements in a week. The stool can be hard and dry. Sometimes it is painful to pass. At one time or another, almost everyone gets constipated. In most cases, it lasts a short time and is not serious. There are many things you can do to prevent constipation. They include - Eating more fruits, vegetables and grains, which are high in fiber - Drinking plenty of water and other liquids - Getting enough exercise - Taking time to have a bowel movement when you need to - Using laxatives only if your doctor says you should - Asking your doctor if medicines you take may cause constipation It's not important that you have a bowel movement every day. If your bowel habits change, however, check with your doctor. NIH: National Institute of Diabetes and Digestive and Kidney Diseases", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by X-linked lymphoproliferative disease ?"}, {"role": "assistant", "content": "XLP1 is estimated to occur in about 1 per million males worldwide. XLP2 is less common, occurring in about 1 per 5 million males.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Mucolipidosis type 4 ?"}, {"role": "assistant", "content": "Mucolipidosis type 4 is a metabolic condition that affects the body's ability to process certain carbohydrates and fats. As a result, these materials accumulate in cells leading to the various signs and symptoms of the condition. Most people with mucolipidosis type 4 develop severe psychomotor (mental and motor skills) delay by the end of the first year of life and visual impairment that worsens over time. Other common features of the condition include limited or absent speech; intellectual disability; hypotonia that gradually progresses to spasticity; problems controlling hand movements; impaired production of stomach acids; and iron deficiency. Approximately 5% of affected people have a mild form of the condition (known as atypical mucolipidosis type 4) which is associated with milder psychomotor delay and less severe eye abnormalities. Mucolipidosis type 4 is caused by changes (mutations) in the MCOLN1 gene and is inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Prostate Cancer ?"}, {"role": "assistant", "content": "If tests show that you have cancer, you should talk with your doctor in order to make treatment decisions. Working With a Team of Specialists A team of specialists often treats people with cancer. The team will keep the primary doctor informed about the patient's progress. The team may include a medical oncologist who is a specialist in cancer treatment, a surgeon, a radiation oncologist who is a specialist in radiation therapy, and others. Before starting treatment, you may want another doctor to review the diagnosis and treatment plan. Some insurance companies require a second opinion. Others may pay for a second opinion if you request it. Clinical Trials for Prostate Cancer Some prostate cancer patients take part in studies of new treatments. These studies -- called clinical trials -- are designed to find out whether a new treatment is safe and effective. Often, clinical trials compare a new treatment with a standard one so that doctors can learn which is more effective. Men with prostate cancer who are interested in taking part in a clinical trial should talk with their doctor. The U.S. National Institutes of Health, through its National Library of Medicine and other Institutes, maintains a database of clinical trials at ClinicalTrials.gov. Click here to see a list of the current clinical trials on prostate cancer. A separate window will open. Click the \"x\" in the upper right hand corner of the \"Clinical Trials\" window to return here.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Who is at risk for Atrial Fibrillation? ?"}, {"role": "assistant", "content": "Atrial fibrillation (AF) affects millions of people, and the number is rising. Men are more likely than women to have the condition. In the United States, AF is more common among Whites than African Americans or Hispanic Americans.\n \nThe risk of AF increases as you age. This is mostly because your risk for heart disease and other conditions that can cause AF also increases as you age. However, about half of the people who have AF are younger than 75.\n \nAF is uncommon in children.\n \nMajor Risk Factors\n \nAF is more common in people who have:\n \nHigh blood pressure\n \nCoronary heart disease (CHD)\n \nHeart failure\n \nRheumatic (ru-MAT-ik) heart disease\n \nStructural heart defects, such as mitral valve prolapse\n \nPericarditis (PER-i-kar-DI-tis; a condition in which the membrane, or sac, around your heart is inflamed)\n \nCongenital heart defects\n \nSick sinus syndrome (a condition in which the heart's electrical signals don't fire properly and the heart rate slows down; sometimes the heart will switch back and forth between a slow rate and a fast rate)\n \nAF also is more common in people who are having heart attacks or who have just had surgery.\n \nOther Risk Factors\n \nOther conditions that raise your risk for AF include hyperthyroidism (too much thyroid hormone), obesity, diabetes, and lung disease.\n \nCertain factors also can raise your risk for AF. For example, drinking large amounts of alcohol, especially binge drinking, raises your risk. Even modest amounts of alcohol can trigger AF in some people. Caffeine or psychological stress also may trigger AF in some people.\n \nSome data suggest that people who have sleep apnea are at greater risk for AF. Sleep apnea is a common disorder that causes one or more pauses in breathing or shallow breaths while you sleep.\n \nMetabolic syndrome also raises your risk for AF. Metabolic syndrome is the name for a group of risk factors that raises your risk for CHD and other health problems, such as diabetes and stroke.\n \nResearch suggests that people who receive high-dose steroid therapy are at increased risk for AF. This therapy is used for asthma and some inflammatory conditions. It may act as a trigger in people who have other AF risk factors.\n \nGenetic factors also may play a role in causing AF. However, their role isn't fully known.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by acute promyelocytic leukemia ?"}, {"role": "assistant", "content": "Acute promyelocytic leukemia accounts for about 10 percent of acute myeloid leukemia cases. Acute promyelocytic leukemia occurs in approximately 1 in 250,000 people in the United States.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Oligoastrocytoma ?"}, {"role": "assistant", "content": "Oligoastrocytoma is a brain tumor that forms when two types of cells in the brain, called oligodendrocytes and astrocytes, rapidly increase in number to form a mass. These brain cells are known as glial cells, which normally protect and support nerve cells in the brain. Because an oligoastrocytoma is made up of a combination of two cell types, it is known as a mixed glioma. Oligoastrocytomas usually occur in a part of the brain called the cerebrum and are diagnosed in adults between the ages of 30 and 50. The exact cause of this condition is unknown.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Who is at risk for Arrhythmia? ?"}, {"role": "assistant", "content": "Arrhythmias are very common in older adults. Atrial fibrillation (a common type of arrhythmia that can cause problems) affects millions of people, and the number is rising.\n \nMost serious arrhythmias affect people older than 60. This is because older adults are more likely to have heart disease and other health problems that can lead to arrhythmias.\n \nOlder adults also tend to be more sensitive to the side effects of medicines, some of which can cause arrhythmias. Some medicines used to treat arrhythmias can even cause arrhythmias as a side effect.\n \nSome types of arrhythmia happen more often in children and young adults. Paroxysmal supraventricular tachycardia (PSVT), including Wolff-Parkinson-White syndrome, is more common in young people. PSVT is a fast heart rate that begins and ends suddenly.\n \nMajor Risk Factors\n \nArrhythmias are more common in people who have diseases or conditions that weaken the heart, such as:\n \nHeart attack\n \nHeart failure or cardiomyopathy, which weakens the heart and changes the way electrical signals move through the heart\n \nHeart tissue that's too thick or stiff or that hasn't formed normally\n \nLeaking or narrowed heart valves, which make the heart work too hard and can lead to heart failure\n \nCongenital heart defects (defects present at birth) that affect the heart's structure or function\n \nOther conditions also can raise the risk for arrhythmias, such as:\n \nHigh blood pressure\n \nInfections that damage the heart muscle or the sac around the heart\n \nDiabetes, which increases the risk of high blood pressure and coronary heart disease\n \nSleep apnea, which can stress the heart because the heart doesn't get enough oxygen\n \nAn overactive or underactive thyroid gland (too much or too little thyroid hormone in the body)\n \nSeveral other risk factors also can raise your risk for arrhythmias. Examples include heart surgery, certain drugs (such as cocaine or amphetamines), or an imbalance of chemicals or other substances (such as potassium) in the bloodstream.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Spondylometaphyseal dysplasia with dentinogenesis imperfecta ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Spondylometaphyseal dysplasia with dentinogenesis imperfecta? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondylometaphyseal dysplasia with dentinogenesis imperfecta. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Brachydactyly syndrome 90% Joint hypermobility 90% Micromelia 90% Narrow chest 90% Platyspondyly 90% Short stature 90% Delayed eruption of teeth 50% Scoliosis 50% Depressed nasal bridge 7.5% Frontal bossing 7.5% Patent ductus arteriosus 7.5% Short nose 7.5% Strabismus 7.5% Autosomal dominant inheritance - Biconvex vertebral bodies - Cone-shaped epiphyses of the phalanges of the hand - Coronal cleft vertebrae - Delayed ossification of carpal bones - Dentinogenesis imperfecta - Flared iliac wings - Flat acetabular roof - Genu recurvatum - Genu varum - Irregular epiphyses - Long philtrum - Mesomelia - Metaphyseal cupping - Metaphyseal widening - Motor delay - Narrow face - Osteoporosis - Pectus carinatum - Prominent forehead - Respiratory distress - Short long bone - Short metacarpal - Short phalanx of finger - Small epiphyses - Spondylometaphyseal dysplasia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for familial paroxysmal kinesigenic dyskinesia ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of familial paroxysmal kinesigenic dyskinesia: - Gene Review: Gene Review: Familial Paroxysmal Kinesigenic Dyskinesia - Genetic Testing Registry: Dystonia 10 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is cleidocranial dysplasia inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases may result from new mutations in the gene. These cases occur in people with no history of the disorder in their family.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Abortion ?"}, {"role": "assistant", "content": "An abortion is a procedure to end a pregnancy. It uses medicine or surgery to remove the embryo or fetus and placenta from the uterus. The procedure is done by a licensed health care professional. The decision to end a pregnancy is very personal. If you are thinking of having an abortion, most healthcare providers advise counseling.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "what research (or clinical trials) is being done for Kidney Disease ?"}, {"role": "assistant", "content": "There are many researchers who are working on kidney disease. They are looking for ways to improve diagnosis, make treatments more effective, and make dialysis and transplantation work better. Several areas of research supported by the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) hold great potential. Emphasis is being placed on research related to prevention and early intervention in kidney disease. Another focus is on the interaction between diabetes, kidney disease, and cardiovascular disease. Advances in treatments for diabetes and high blood pressure may help reduce the damage these conditions do to the kidneys in the first place. Research into how to predict who will develop kidney disease may improve prevention.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for lactose intolerance ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of lactose intolerance: - Genetic Testing Registry: Congenital lactase deficiency - Genetic Testing Registry: Nonpersistence of intestinal lactase - MedlinePlus Encyclopedia: Lactose Intolerance - MedlinePlus Encyclopedia: Lactose Tolerance Tests These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Who is at risk for Parasites - Fascioliasis (Fasciola Infection)? ?"}, {"role": "assistant", "content": "Fascioliasis occurs in many areas of the world and usually is caused by F. hepatica, which is a common liver fluke of sheep and cattle. In general, fascioliasis is more common and widespread in animals than in people. Even so, the number of infected people in the world is thought to exceed 2 million.\n \nFasciola hepatica is found in more than 50 countries, in all continents except Antarctica. It is found in parts of Latin America, the Caribbean, Europe, the Middle East, Africa, Asia, and Oceania. Fasciola gigantica is less widespread. Human cases have been reported in the tropics, in parts of Africa and Asia, and also in Hawaii.\n \nIn some areas where fascioliasis is found, human cases are uncommon (sporadic). In other areas, human fascioliasis is very common (hyperendemic). For example, the areas with the highest known rates of human infection are in the Andean highlands of Bolivia and Peru.\n \nSpecial conditions are needed for fascioliasis to be present in an area, and its geographic distribution is very patchy (focal). The eggs passed in the stool of infected mammals have to develop (mature) in a suitable aquatic snail host to be able to infect another mammalian host. Requirements include sufficient moisture and favorable temperatures (above 50\u00b0F) that allow the development of miracidia, reproduction of snails, and larval development within the snails. These factors also contribute to both the prevalence and level (intensity) of infection. Prevalence is highest in areas where climatic conditions promote development of cercariae.\n \nMore on: Biology\n \nInfective Fasciola larvae (metacercariae) are found in contaminated water, either stuck to (encysted on) water plants or floating in the water, often in marshy areas, ponds, or flooded pastures. People (and animals) typically become infected by eating raw watercress or other contaminated water plants. The plants may be eaten as a snack or in salads or sandwiches. People also can get infected by ingesting contaminated water, such as by drinking it or by eating vegetables that were washed or irrigated with contaminated water. Infection also can result from eating undercooked sheep or goat livers that contain immature forms of the parasite.\n \nThe possibility of becoming infected in the United States should be considered, despite the fact that few locally acquired cases have been documented. The prerequisites for the Fasciola life cycle exist in some parts of the United States. In addition, transmission because of imported contaminated produce could occur, as has been documented in Europe.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Atrial Fibrillation and Stroke ?"}, {"role": "assistant", "content": "Within a few hours after onset of a stroke, treatment with drugs or devices that dissolve or break up the clot can restore blood flow to the brain and lead to a better recovery. To prevent strokes related to AF, doctors often prescribe medications to prevent formation of clots in the heart, which can travel to the brain and cause stroke. Immediately after a stroke, doctors may temporarily administer heparin by injection, while starting an oral medication for long-term protection from clots. The most commonly used drug has been warfarin. People taking warfarin must be closely monitored to make sure their blood is thin enough to prevent clots, but not so thin as to promote bleeding. Since some foods, vitamin supplements, and medications can affect warfarin action, keeping the blood just thin enough can be tricky. More recently, a number of new blood thinners, including dabigatran, rivaroxaban, and apixaban, have been shown to be as effective as warfarin in stroke prevention. These newer medications do not require regular blood test monitoring and may have less tendency to cause bleeding due to making the blood too thin. Some individuals with AF may have a lower risk of stroke and may be treated with aspirin, either alone or with another antiplatelet agency like clopidogrel. Other treatments for AF include medications such as beta blockers or calcium channel blockers to slow the heartbeat, and anti-arrhythmic drugs or electrical cardioversion (which delivers an electrical shock to the heart) to normalize the heartbeat.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "what research (or clinical trials) is being done for Coma ?"}, {"role": "assistant", "content": "The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research related to coma in their laboratories at the NIH and also support additional research through grants to major medical institutions across the country. Much of this research focuses on finding better ways to prevent and treat coma.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Chronic Myelogenous Leukemia ?"}, {"role": "assistant", "content": "See the PDQ summary about Chronic Myelogenous Leukemia Treatment for information.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is nephrogenic diabetes insipidus inherited ?"}, {"role": "assistant", "content": "When nephrogenic diabetes insipidus results from mutations in the AVPR2 gene, the condition has an X-linked recessive pattern of inheritance. The AVPR2 gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation usually has to occur in both copies of the gene to cause the disorder. However, some females who carry a single mutated copy of the AVPR2 gene have features of nephrogenic diabetes insipidus, including polyuria and polydipsia. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. When nephrogenic diabetes insipidus is caused by mutations in the AQP2 gene, it can have either an autosomal recessive or, less commonly, an autosomal dominant pattern of inheritance. In autosomal recessive inheritance, both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. In autosomal dominant inheritance, one mutated copy of the AQP2 gene in each cell is sufficient to cause the disorder.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Prader-Willi habitus, osteopenia, and camptodactyly ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Prader-Willi habitus, osteopenia, and camptodactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Prader-Willi habitus, osteopenia, and camptodactyly. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal form of the vertebral bodies 90% Camptodactyly of finger 90% Camptodactyly of toe 90% Cognitive impairment 90% Hypoplasia of penis 90% Obesity 90% Recurrent fractures 90% Abnormal diaphysis morphology 50% Brachydactyly syndrome 50% Clinodactyly of the 5th finger 50% Cryptorchidism 50% Epicanthus 50% Eunuchoid habitus 50% Kyphosis 50% Overfolded helix 50% Prominent nasal bridge 50% Short foot 50% Short neck 50% Short stature 50% Strabismus 50% Toe syndactyly 50% Upslanted palpebral fissure 50% Abnormality of the philtrum 7.5% Abnormality of the ureter 7.5% Aplasia/Hypoplasia of the earlobes 7.5% Abnormality of the genital system - Autosomal recessive inheritance - Camptodactyly - Enlarged epiphyses - Intellectual disability - Joint contracture of the hand - Osteopenia - Osteoporosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) steatocystoma multiplex ?"}, {"role": "assistant", "content": "Steatocystoma multiplex is a skin disorder characterized by the development of multiple noncancerous (benign) cysts known as steatocystomas. These growths begin in the skin's sebaceous glands, which normally produce an oily substance called sebum that lubricates the skin and hair. Steatocystomas are filled with sebum. In affected individuals, steatocystomas typically first appear during adolescence and are found most often on the torso, neck, upper arms, and upper legs. In most people with steatocystoma multiplex, these cysts are the only sign of the condition. However, some affected individuals also have mild abnormalities involving the teeth or the fingernails and toenails.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Primary hyperoxaluria type 2 inherited ?"}, {"role": "assistant", "content": "How is primary hyperoxaluria type 2 inherited? Primary hyperoxaluria type 2 is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to androgen insensitivity syndrome ?"}, {"role": "assistant", "content": "Mutations in the AR gene cause androgen insensitivity syndrome. This gene provides instructions for making a protein called an androgen receptor. Androgen receptors allow cells to respond to androgens, which are hormones (such as testosterone) that direct male sexual development. Androgens and androgen receptors also have other important functions in both males and females, such as regulating hair growth and sex drive. Mutations in the AR gene prevent androgen receptors from working properly, which makes cells less responsive to androgens or prevents cells from using these hormones at all. Depending on the level of androgen insensitivity, an affected person's sex characteristics can vary from mostly female to mostly male.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of NADH cytochrome B5 reductase deficiency ?"}, {"role": "assistant", "content": "What are the signs and symptoms of NADH cytochrome B5 reductase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for NADH cytochrome B5 reductase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Cyanosis - Exertional dyspnea - Growth delay - Headache - Hypertonia - Intellectual disability - Methemoglobinemia - Microcephaly - Opisthotonus - Polycythemia - Strabismus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Hypophosphatemic rickets inherited ?"}, {"role": "assistant", "content": "How is hypophosphatemic rickets inherited? Hypophosphatemic rickets is most often inherited in an X-linked dominant manner. This means that the gene responsible for the condition is located on the X chromosome, and having only one mutated copy of the gene is enough to cause the condition. Because males have only one X chromosome (and one Y chromosome) and females have two X chromosomes, X-linked dominant conditions affect males and females differently. Both males and females can have an X-linked dominant condition. However, because males don't have a second, working copy of the gene (as females do), they usually have more severe disease than females. If a father has the mutated X-linked gene: all of his daughters will inherit the mutated gene (they will all receive his X chromosome) none of his sons will inherit the mutated gene (they only inherit his Y chromosome) If a mother has the mutated X-linked gene, each of her children (both male and female) has a 50% chance to inherit the mutated gene. Less commonly, hypophosphatemic rickets is inherited in an X-linked recessive, autosomal dominant, or autosomal recessive manner.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Do you have information about Drugs and Young People"}, {"role": "assistant", "content": "Summary : Drug abuse is a serious public health problem. It affects almost every community and family in some way. Drug abuse in children and teenagers may pose a greater hazard than in older people. This is because their brains are not yet fully developed. As a result, the brains of young people may be more susceptible to drug abuse and addiction than adult brains. Abused drugs include - Amphetamines - Anabolic steroids - Club drugs - Cocaine - Heroin - Inhalants - Marijuana - Prescription drugs There are different types of treatment for drug abuse. But it is better to prevent drug abuse in the first place. NIH: National Institute on Drug Abuse", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Glioblastoma ?"}, {"role": "assistant", "content": "Glioblastoma is a malignant (cancerous) brain tumor that develops from a specific type of brain cell called an astrocyte. These cells help support and nourish neurons (nerve cells of the brain) and form scar tissue that helps repair brain damage in response to injury. Glioblastomas are often very aggressive and grow into surrounding brain tissue. Signs and symptoms, such as headache, nausea, vomiting and/or drowsiness, may develop when the tumor begins to put excess pressure on the brain. Affected people may also experience other features depending on the size and location of the tumor. In most cases, the exact underlying cause is unknown; however, they can rarely occur in people with certain genetic syndromes such as neurofibromatosis type 1, Turcot syndrome and Li Fraumeni syndrome. There is currently no cure for glioblastoma. Treatment is palliative and may include surgery, radiation therapy and/or chemotherapy.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Do you have information about African American Health"}, {"role": "assistant", "content": "Summary : Every racial or ethnic group has specific health concerns. Differences in the health of groups can result from - Genetics - Environmental factors - Access to care - Cultural factors On this page, you'll find links to health issues that affect African Americans.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Greig cephalopolysyndactyly syndrome ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of Greig cephalopolysyndactyly syndrome: - Gene Review: Gene Review: Greig Cephalopolysyndactyly Syndrome - Genetic Testing Registry: Greig cephalopolysyndactyly syndrome - MedlinePlus Encyclopedia: Polydactyly - MedlinePlus Encyclopedia: Syndactyly (image) These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Congenital generalized lipodystrophy type 2 ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Congenital generalized lipodystrophy type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital generalized lipodystrophy type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Acanthosis nigricans - Accelerated skeletal maturation - Acute pancreatitis - Autosomal recessive inheritance - Cirrhosis - Clitoromegaly - Congenital onset - Cystic angiomatosis of bone - Decreased fertility - Decreased fertility in females - Decreased serum leptin - Generalized muscular appearance from birth - Hepatic steatosis - Hepatomegaly - Hirsutism - Hyperinsulinemia - Hypertriglyceridemia - Hypertrophic cardiomyopathy - Insulin-resistant diabetes mellitus at puberty - Intellectual disability, mild - Labial hypertrophy - Large hands - Lipodystrophy - Long foot - Mandibular prognathia - Nearly complete absence of metabolically active adipose tissue (subcutaneous, intraabdominal, intrathoracic) - Polycystic ovaries - Polyphagia - Prominent umbilicus - Splenomegaly - Tall stature - Umbilical hernia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for spondylocostal dysostosis ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of spondylocostal dysostosis: - Gene Review: Gene Review: Spondylocostal Dysostosis, Autosomal Recessive - Genetic Testing Registry: Jarcho-Levin syndrome - Genetic Testing Registry: Spondylocostal dysostosis 1 - Genetic Testing Registry: Spondylocostal dysostosis 2 - Genetic Testing Registry: Spondylocostal dysostosis 3 - Genetic Testing Registry: Spondylocostal dysostosis 4, autosomal recessive - KidsHealth: X-Ray Exam (Scoliosis) - MedlinePlus Encyclopedia: Scoliosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to prevent Colorectal Cancer ?"}, {"role": "assistant", "content": "Key Points\n - Avoiding risk factors and increasing protective factors may help prevent cancer. - The following risk factors increase the risk of colorectal cancer: - Age - Family history of colorectal cancer - Personal history - Inherited risk - Alcohol - Cigarette smoking - Obesity - The following protective factors decrease the risk of colorectal cancer: - Physical activity - Aspirin - Combination hormone replacement therapy - Polyp removal - It is not clear if the following affect the risk of colorectal cancer: - Nonsteroidal anti-inflammatory drugs (NSAIDs) other than aspirin - Calcium - Diet - The following factors do not affect the risk of colorectal cancer: - Hormone replacement therapy with estrogen only - Statins - Cancer prevention clinical trials are used to study ways to prevent cancer. - New ways to prevent colorectal cancer are being studied in clinical trials.\n \n \n Avoiding risk factors and increasing protective factors may help prevent cancer.\n Avoiding cancer risk factors may help prevent certain cancers. Risk factors include smoking, being overweight, and not getting enough exercise. Increasing protective factors such as quitting smoking and exercising may also help prevent some cancers. Talk to your doctor or other health care professional about how you might lower your risk of cancer.\n \n \n The following risk factors increase the risk of colorectal cancer:\n Age The risk of colorectal cancer increases after age 50. Most cases of colorectal cancer are diagnosed after age 50. Family history of colorectal cancer Having a parent, brother, sister, or child with colorectal cancer doubles a person's risk of colorectal cancer. Personal history Having a personal history of the following conditions increases the risk of colorectal cancer: - Previous colorectal cancer. - High-risk adenomas (colorectal polyps that are 1 centimeter or larger in size or that have cells that look abnormal under a microscope). - Ovarian cancer. - Inflammatory bowel disease (such as ulcerative colitis or Crohn disease). Inherited risk The risk of colorectal cancer is increased when certain gene changes linked to familial adenomatous polyposis (FAP) or hereditary nonpolyposis colon cancer (HNPCC or Lynch Syndrome) are inherited. Alcohol Drinking 3 or more alcoholic beverages per day increases the risk of colorectal cancer. Drinking alcohol is also linked to the risk of forming large colorectal adenomas (benign tumors). Cigarette smoking Cigarette smoking is linked to an increased risk of colorectal cancer and death from colorectal cancer. Smoking cigarettes is also linked to an increased risk of forming colorectal adenomas. Cigarette smokers who have had surgery to remove colorectal adenomas are at an increased risk for the adenomas to recur (come back). Obesity Obesity is linked to an increased risk of colorectal cancer and death from colorectal cancer.\n \n \n The following protective factors decrease the risk of colorectal cancer:\n Physical activity A lifestyle that includes regular physical activity is linked to a decreased risk of colorectal cancer. Aspirin Studies have shown that taking aspirin lowers the risk of colorectal cancer and the risk of death from colorectal cancer. The decrease in risk begins 10 to 20 years after patients start taking aspirin. The possible harms of aspirin use (100 mg or less) daily or every other day include an increased risk of stroke and bleeding in the stomach and intestines. These risks may be greater among the elderly, men, and those with conditions linked to a higher than normal risk of bleeding. Combination hormone replacement therapy Studies have shown that combination hormone replacement therapy (HRT) that includes both estrogen and progestin lowers the risk of invasive colorectal cancer in postmenopausal women. However, in women who take combination HRT and do develop colorectal cancer, the cancer is more likely to be advanced when it is diagnosed and the risk of dying from colorectal cancer is not decreased. The possible harms of combination HRT include an increased risk of having: - Breast cancer. - Heart disease. - Blood clots. Polyp removal Most colorectal polyps are adenomas, which may develop into cancer. Removing colorectal polyps that are larger than 1 centimeter (pea-sized) may lower the risk of colorectal cancer. It is not known if removing smaller polyps lowers the risk of colorectal cancer. The possible harms of polyp removal during colonoscopy or sigmoidoscopy include a tear in the wall of the colon and bleeding.\n \n \n It is not clear if the following affect the risk of colorectal cancer:\n Nonsteroidal anti-inflammatory drugs (NSAIDs) other than aspirin It is not known if the use of nonsteroidal anti-inflammatory drugs or NSAIDs (such as sulindac, celecoxib, naproxen, and ibuprofen) lowers the risk of colorectal cancer. Studies have shown that taking the nonsteroidal anti-inflammatory drug celecoxib reduces the risk of colorectal adenomas (benign tumors) coming back after they have been removed. It is not clear if this results in a lower risk of colorectal cancer. Taking sulindac or celecoxib has been shown to reduce the number and size of polyps that form in the colon and rectum of people with familial adenomatous polyposis (FAP). It is not clear if this results in a lower risk of colorectal cancer. The possible harms of NSAIDs include: - Kidney problems. - Bleeding in the stomach, intestines, or brain. - Heart problems such as heart attack and congestive heart failure. Calcium It is not known if taking calcium supplements lowers the risk of colorectal cancer. Diet It is not known if a diet low in fat and meat and high in fiber, fruits, and vegetables lowers the risk of colorectal cancer. Some studies have shown that a diet high in fat, proteins, calories, and meat increases the risk of colorectal cancer, but other studies have not.\n \n \n The following factors do not affect the risk of colorectal cancer:\n Hormone replacement therapy with estrogen only Hormone replacement therapy with estrogen only does not lower the risk of having invasive colorectal cancer or the risk of dying from colorectal cancer. Statins Studies have shown that taking statins (drugs that lower cholesterol) does not increase or decrease the risk of colorectal cancer.\n \n \n Cancer prevention clinical trials are used to study ways to prevent cancer.\n Cancer prevention clinical trials are used to study ways to lower the risk of developing certain types of cancer. Some cancer prevention trials are conducted with healthy people who have not had cancer but who have an increased risk for cancer. Other prevention trials are conducted with people who have had cancer and are trying to prevent another cancer of the same type or to lower their chance of developing a new type of cancer. Other trials are done with healthy volunteers who are not known to have any risk factors for cancer. The purpose of some cancer prevention clinical trials is to find out whether actions people take can prevent cancer. These may include exercising more or quitting smoking or taking certain medicines, vitamins, minerals, or food supplements.\n \n \n New ways to prevent colorectal cancer are being studied in clinical trials.\n Clinical trials are taking place in many parts of the country. Information about clinical trials can be found in the Clinical Trials section of the NCI website. Check NCI's list of cancer clinical trials for colon cancer prevention trials or rectal cancer prevention trials that are now accepting patients.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Sickle Cell Disease ?"}, {"role": "assistant", "content": "Espaol\n \nThe term sickle cell disease (SCD) describes a group of inherited red blood cell disorders. People with SCD have abnormal hemoglobin, called hemoglobin S or sickle hemoglobin, in their red blood cells.\n \nHemoglobin is a protein in red blood cells that carries oxygen throughout the body.\n \nInherited means that the disease is passed by genes from parents to their children. SCD is not contagious. A person cannot catch it, like a cold or infection, from someone else.\n \nPeople who have SCD inherit two abnormal hemoglobin genes, one from each parent. In all forms of SCD, at least one of the two abnormal genes causes a persons body to make hemoglobin S. When a person has two hemoglobin S genes, Hemoglobin SS, the disease is called sickle cell anemia. This is the most common and often most severe kind of SCD.\n \nHemoglobin SC disease and hemoglobin S thalassemia (thal-uh-SEE-me-uh) are two other common forms of SCD.\n \nSome Forms of Sickle Cell Disease\n \nHemoglobin SS\n \nHemoglobin SC\n \nHemoglobin S0 thalassemia\n \nHemoglobin S+ thalassemia\n \nHemoglobin SD\n \nHemoglobin SE\n \n\n \nOverview\n \nCells in tissues need a steady supply of oxygen to work well. Normally, hemoglobin in red blood cells takes up oxygen in the lungs and carries it to all the tissues of the body.\n \nRed blood cells that contain normal hemoglobin are disc shaped (like a doughnut without a hole). This shape allows the cells to be flexible so that they can move through large and small blood vessels to deliver oxygen.\n \nSickle hemoglobin is not like normal hemoglobin. It can form stiff rods within the red cell, changing it into a crescent, or sickle shape.\n \nSickle-shaped cells are not flexible and can stick to vessel walls, causing a blockage that slows or stops the flow of blood. When this happens, oxygen cant reach nearby tissues.\n \nNormal Red Cells and Sickle Red Cells\n \n\n \nThe lack of tissue oxygen can cause attacks of sudden, severe pain, called pain crises. These pain attacks can occur without warning, and a person often needs to go to the hospital for effective treatment.\n \nMost children with SCD are pain free between painful crises, but adolescents and adults may also suffer with chronic ongoing pain.\n \nThe red cell sickling and poor oxygen delivery can also cause organ damage. Over a lifetime, SCD can harm a persons spleen, brain, eyes, lungs, liver, heart, kidneys, penis, joints, bones, or skin.\n \nSickle cells cant change shape easily, so they tend to burst apart or hemolyze. Normal red blood cells live about 90 to 120 days, but sickle cells last only 10 to 20 days.\n \nThe body is always making new red blood cells to replace the old cells; however, in SCD the body may have trouble keeping up with how fast the cells are being destroyed. Because of this, the number of red blood cells is usually lower than normal. This condition, called anemia, can make a person have less energy.\n \nOutlook\n \nSickle cell disease is a life-long illness. The severity of the disease varies widely from person to person.\n \nIn high-income countries like the United States, the life expectancy of a person with SCD is now about 4060 years. In 1973, the average lifespan of a person with SCD in the United States was only 14 years. Advances in the diagnosis and care of SCD have made this improvement possible.\n \nAt the present time, hematopoietic stem cell transplantation (HSCT) is the only cure for SCD. Unfortunately, most people with SCD are either too old for a transplant or dont have a relative who is a good enough genetic match for them to act as a donor. A well-matched donor is needed to have the best chance for a successful transplant.\n \nThere are effective treatments that can reduce symptoms and prolong life. Early diagnosis and regular medical care to prevent complications also contribute to improved well-being.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) primary hyperoxaluria ?"}, {"role": "assistant", "content": "Primary hyperoxaluria is a rare condition characterized by recurrent kidney and bladder stones. The condition often results in end stage renal disease (ESRD), which is a life-threatening condition that prevents the kidneys from filtering fluids and waste products from the body effectively. Primary hyperoxaluria results from the overproduction of a substance called oxalate. Oxalate is filtered through the kidneys and excreted as a waste product in urine, leading to abnormally high levels of this substance in urine (hyperoxaluria). During its excretion, oxalate can combine with calcium to form calcium oxalate, a hard compound that is the main component of kidney and bladder stones. Deposits of calcium oxalate can damage the kidneys and other organs and lead to blood in the urine (hematuria), urinary tract infections, kidney damage, ESRD, and injury to other organs. Over time, kidney function decreases such that the kidneys can no longer excrete as much oxalate as they receive. As a result oxalate levels in the blood rise, and the substance gets deposited in tissues throughout the body (systemic oxalosis), particularly in bones and the walls of blood vessels. Oxalosis in bones can cause fractures. There are three types of primary hyperoxaluria that differ in their severity and genetic cause. In primary hyperoxaluria type 1, kidney stones typically begin to appear anytime from childhood to early adulthood, and ESRD can develop at any age. Primary hyperoxaluria type 2 is similar to type 1, but ESRD develops later in life. In primary hyperoxaluria type 3, affected individuals often develop kidney stones in early childhood, but few cases of this type have been described so additional signs and symptoms of this type are unclear.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What to do for Acromegaly ?"}, {"role": "assistant", "content": "- Acromegaly is a hormonal disorder that results from too much growth hormone (GH) in the body. - In most people with acromegaly, a benign tumor of the pituitary gland produces excess GH. - Common features of acromegaly include abnormal growth of the hands and feet; bone growth in the face that leads to a protruding lower jaw and brow and an enlarged nasal bone; joint aches; thick, coarse, oily skin; and enlarged lips, nose, and tongue. - Acromegaly can cause sleep apnea, fatigue and weakness, headaches, impaired vision, menstrual abnormalities in women, and erectile dysfunction in men. - Acromegaly is diagnosed through a blood test. Magnetic resonance imaging (MRI) of the pituitary is then used to locate and detect the size of the tumor causing GH overproduction. - The first line of treatment is usually surgical removal of the tumor. Medication or radiation may be used instead of or in addition to surgery.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Frontal fibrosing alopecia ?"}, {"role": "assistant", "content": "How is frontal fibrosing alopecia diagnosed? Frontal fibrosing alopecia is often suspected based on the presence of characteristic signs and symptoms. The diagnosis can be confirmed by examining a small sample of skin (skin biopsy) from the affected area. In some cases, laboratory studies may be ordered to rule out other conditions that cause similar features.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for juvenile Batten disease ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of juvenile Batten disease: - Batten Disease Diagnostic and Clinical Research Center at the University of Rochester Medical Center - Batten Disease Support and Research Association: Centers of Excellence - Gene Review: Gene Review: Neuronal Ceroid-Lipofuscinoses - Genetic Testing Registry: Juvenile neuronal ceroid lipofuscinosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to prevent Sexual and Urologic Problems of Diabetes ?"}, {"role": "assistant", "content": "People with diabetes can lower their risk of sexual and urologic problems by keeping their blood glucose, blood pressure, and cholesterol levels close to the target numbers their health care provider recommends. Being physically active and maintaining a healthy weight can also help prevent the long-term complications of diabetes. For those who smoke, quitting will lower the risk of developing sexual and urologic problems due to nerve damage and also lower the risk for other health problems related to diabetes, including heart attack, stroke, and kidney disease.\n \nMore information about preventing diabetes complications is provided in the NIDDK health topic, Prevent diabetes problems: Keep your diabetes under control, available from the National Diabetes Information Clearinghouse at 1-800-860-8747.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by Schwartz-Jampel syndrome ?"}, {"role": "assistant", "content": "Schwartz-Jampel syndrome appears to be a rare condition. About 150 cases have been reported in the medical literature.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Split hand split foot nystagmus ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Split hand split foot nystagmus? People with this condition are born with split hands and feet. Split hands and split foot refers to a developmental malformation consisting of missing digits (fingers and/or toes), a deep median cleft (cleft down the center of the hand or foot), and fusion of remaining digits. People with this syndrome also have rapid involuntary movements of the eyes, called nystagmus. Abnormalities of the teeth can occur rarely. The Human Phenotype Ontology provides the following list of signs and symptoms for Split hand split foot nystagmus. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Nystagmus 90% Split foot 90% Split hand 90% Abnormality of the metacarpal bones 50% Strabismus 50% Visual impairment 50% Abnormality of retinal pigmentation 7.5% Cataract 7.5% Autosomal dominant inheritance - Congenital nystagmus - Monodactyly (hands) - Retinopathy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) gnathodiaphyseal dysplasia ?"}, {"role": "assistant", "content": "Gnathodiaphyseal dysplasia is a disorder that affects the bones. People with this condition have reduced bone mineral density (osteopenia), which causes the bones to be unusually fragile. As a result, affected individuals typically experience multiple bone fractures in childhood, often from mild trauma or with no apparent cause. While most bone tissue is less dense than normal in gnathodiaphyseal dysplasia, the outer layer (cortex) of the shafts of the long bones in the arms and legs is abnormally hard and thick (diaphyseal sclerosis). Bowing of the long bones also occurs in this disorder. Jaw problems are common in gnathodiaphyseal dysplasia; the prefix \"gnatho-\" in the condition name refers to the jaw. Affected individuals may develop bone infections (osteomyelitis) in the jaw, which can lead to pain, swelling, discharge of pus from the gums, loose teeth, and slow healing after teeth are lost or extracted. Areas of the jawbone may lose the protective coverage of the gums, which can result in deterioration of the exposed bone (osteonecrosis of the jaw). Also, normal bone in areas of the jaw may be replaced by fibrous tissue and a hard material called cementum, which normally surrounds the roots of teeth and anchors them in the jaw. These areas of abnormal bone, called cementoosseous lesions, may be present at birth or develop later in life. When gnathodiaphyseal dysplasia was first described, it was thought to be a variation of another bone disorder called osteogenesis imperfecta, which is also characterized by frequent bone fractures. However, gnathodiaphyseal dysplasia is now generally considered to be a separate condition. Unlike in osteogenesis imperfecta, the fractures in gnathodiaphyseal dysplasia heal normally without causing deformity or loss of height.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Do you have information about Blood Thinners"}, {"role": "assistant", "content": "Summary : If you have some kinds of heart or blood vessel disease, or if you have poor blood flow to your brain, your doctor may recommend that you take a blood thinner. Blood thinners reduce the risk of heart attack and stroke by reducing the formation of blood clots in your arteries and veins. You may also take a blood thinner if you have - An abnormal heart rhythm called atrial fibrillation - Heart valve surgery - Congenital heart defects There are two main types of blood thinners. Anticoagulants, such as heparin or warfarin (also called Coumadin), work on chemical reactions in your body to lengthen the time it takes to form a blood clot. Antiplatelet drugs, such as aspirin, prevent blood cells called platelets from clumping together to form a clot. When you take a blood thinner, follow directions carefully. Make sure that your healthcare provider knows all of the medicines and supplements you are using.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Vasculitis ?"}, {"role": "assistant", "content": "Vasculitis occurs if your immune system attacks your blood vessels by mistake. What causes this to happen isn't fully known.\n \nA recent or chronic (ongoing) infection may prompt the attack. Your body also may attack its own blood vessels in reaction to a medicine.\n \nSometimes an autoimmune disorder triggers vasculitis. Autoimmune disorders occur if the immune system makes antibodies (proteins) that attack and damage the body's own tissues or cells. Examples of these disorders include lupus, rheumatoid arthritis, and scleroderma. You can have these disorders for years before developing vasculitis.\n \nVasculitis also may be linked to certain blood cancers, such as leukemia and lymphoma.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the stages of Childhood Ependymoma ?"}, {"role": "assistant", "content": "Key Points\n - The area where the tumor is found and the childs age are used in place of a staging system to plan cancer treatment. - The information from tests and procedures done to detect (find) childhood ependymoma is used to plan cancer treatment.\n \n \n The area where the tumor is found and the childs age are used in place of a staging system to plan cancer treatment.\n Staging is the process used to find out how much cancer there is and if cancer has spread. There is no standard staging system for childhood ependymoma. Treatment is based on where the cancer is in the body and the age of the child.\n \n \n The information from tests and procedures done to detect (find) childhood ependymoma is used to plan cancer treatment.\n Some of the tests used to detect childhood ependymoma are repeated after the tumor is removed by surgery. (See the General Information section.) This is to find out how much tumor remains after surgery.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) High Blood Pressure ?"}, {"role": "assistant", "content": "Espaol\n \nHigh blood pressure is a common disease in which blood flows through blood vessels (arteries) at higher than normal pressures.\n \nMeasuring Blood Pressure\n \nBlood pressure is the force of blood pushing against the walls of the arteries as the heart pumps blood. High blood pressure, sometimes called hypertension, happens when this force is too high. Health care workers check blood pressure readings the same way for children, teens, and adults. They use a gauge, stethoscope or electronic sensor, and a blood pressure cuff. With this equipment, they measure:\n \nSystolic Pressure: blood pressure when the heart beats while pumping blood\n \nDiastolic Pressure: blood pressure when the heart is at rest between beats\n \nHealth care workers write blood pressure numbers with the systolic number above the diastolic number. For example:\n \n\n \n118/76 mmHg People read \"118 over 76\" millimeters of mercury.\n \nNormal Blood Pressure\n \nNormal blood pressure for adults is defined as a systolic pressure below 120 mmHg and a diastolic pressure below 80 mmHg. It is normal for blood pressures to change when you sleep, wake up, or are excited or nervous. When you are active, it is normal for your blood pressure to increase. However, once the activity stops, your blood pressure returns to your normal baseline range.\n \nBlood pressure normally rises with age and body size. Newborn babies often have very low blood pressure numbers that are considered normal for babies, while older teens have numbers similar to adults.\n \nAbnormal Blood Pressure\n \nAbnormal increases in blood pressure are defined as having blood pressures higher than 120/80 mmHg. The following table outlines and defines high blood pressure severity levels.\n \nStages of High Blood Pressure in Adults\n \nThe ranges in the table are blood pressure guides for adults who do not have any short-term serious illnesses. People with diabetes or chronic kidney disease should keep their blood pressure below 130/80 mmHg.\n \nAlthough blood pressure increases seen in prehypertension are less than those used to diagnose high blood pressure, prehypertension can progress to high blood pressure and should be taken seriously. Over time, consistently high blood pressure weakens and damages your blood vessels, which can lead to complications.\n \nTypes of High Blood Pressure\n \nThere are two main types of high blood pressure: primary and secondary high blood pressure.\n \nPrimary High Blood Pressure\n \nPrimary, or essential, high blood pressure is the most common type of high blood pressure. This type of high blood pressure tends to develop over years as a person ages.\n \nSecondary High Blood Pressure\n \nSecondary high blood pressure is caused by another medical condition or use of certain medicines. This type usually resolves after the cause is treated or removed.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Dentatorubral-pallidoluysian atrophy ?"}, {"role": "assistant", "content": "How might dentatorubral-pallidoluysian atrophy (DRPLA) be treated? There is no cure for DRPLA; treatment is generally symptomatic and supportive. Management of signs and symptoms may include: Treatment of seizures with anti-epileptic drugs Treatment of psychiatric problems with appropriate psychotropic medications Adaptation of environment and care to the level of dementia Adaptation of educational programs for affected children.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Hepatitis B: What Asian and Pacific Islander Americans Need to Know ?"}, {"role": "assistant", "content": "Hepatitis B is called a silent killer because many people have no symptoms, so the disease often progresses unnoticed for years. Unfortunately, many people first learn they have chronic hepatitis B when they develop symptoms of severe liver damage, which include\n \n- yellowish eyes and skin, called jaundice - a swollen stomach or ankles - tiredness - nausea - weakness - loss of appetite - weight loss - spiderlike blood vessels, called spider angiomas, that develop on the skin", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) juvenile Batten disease ?"}, {"role": "assistant", "content": "Juvenile Batten disease is an inherited disorder that primarily affects the nervous system. After a few years of normal development, children with this condition develop progressive vision loss, intellectual and motor disability, speech difficulties, and seizures. Vision impairment is often the first noticeable sign of juvenile Batten disease, beginning between the ages of 4 and 8 years. Vision loss tends to progress rapidly, eventually resulting in blindness. After vision impairment has begun, children with juvenile Batten disease experience the loss of previously acquired skills (developmental regression), usually beginning with the ability to speak in complete sentences. Affected children also have difficulty learning new information. In addition to the intellectual decline, affected children lose motor skills such as the ability to walk or sit. They also develop movement abnormalities that include rigidity or stiffness, slow or diminished movements (hypokinesia), and stooped posture. Affected children may have recurrent seizures (epilepsy), heart problems, behavioral problems, difficulty sleeping, and problems with attention that begin in mid- to late childhood. Most people with juvenile Batten disease live into their twenties or thirties. Juvenile Batten disease is one of a group of disorders known as neuronal ceroid lipofuscinoses (NCLs). These disorders all affect the nervous system and typically cause progressive problems with vision, movement, and thinking ability. The different types of NCLs are distinguished by the age at which signs and symptoms first appear. Some people refer to the entire group of NCLs as Batten disease, while others limit that designation to the juvenile form of the disorder.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is the outlook for Tarlov Cysts ?"}, {"role": "assistant", "content": "In some instances Tarlov cysts can cause nerve pain and other pain, weakness, or nerve root compression. Acute and chronic pain may require changes in lifestyle. If left untreated, nerve root compression can cause permanent neurological damage.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by prekallikrein deficiency ?"}, {"role": "assistant", "content": "The prevalence of prekallikrein deficiency is unknown. Approximately 80 affected individuals in about 30 families have been described in the medical literature. Because prekallikrein deficiency usually does not cause any symptoms, researchers suspect that most people with the condition are never diagnosed.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Progeria ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Progeria? The Human Phenotype Ontology provides the following list of signs and symptoms for Progeria. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of adipose tissue 90% Abnormality of the fingernails 90% Abnormality of the genital system 90% Alopecia 90% Delayed eruption of teeth 90% Hypoplastic toenails 90% Narrow face 90% Prematurely aged appearance 90% Proptosis 90% Reduced number of teeth 90% Short distal phalanx of finger 90% Short stature 90% Thin skin 90% Weight loss 90% Abnormality of skin pigmentation 50% Abnormality of the clavicle 50% Abnormality of the fontanelles or cranial sutures 50% Abnormality of the hip bone 50% Abnormality of the voice 50% Acrocyanosis 50% Convex nasal ridge 50% Coronary artery disease 50% External ear malformation 50% Gait disturbance 50% Lack of skin elasticity 50% Osteolysis 50% Reduced bone mineral density 50% Thin vermilion border 50% Arthralgia 7.5% Nephrosclerosis 7.5% Skeletal dysplasia 7.5% Absence of subcutaneous fat - Angina pectoris - Autosomal dominant inheritance - Congestive heart failure - Generalized osteoporosis with pathologic fractures - Growth delay - Hypoplasia of midface - Malar flattening - Myocardial infarction - Precocious atherosclerosis - Premature coronary artery disease - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by limb-girdle muscular dystrophy ?"}, {"role": "assistant", "content": "It is difficult to determine the prevalence of limb-girdle muscular dystrophy because its features vary and overlap with those of other muscle disorders. Prevalence estimates range from 1 in 14,500 to 1 in 123,000 individuals.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Cowden syndrome ?"}, {"role": "assistant", "content": "What causes Cowden syndrome? Most cases of Cowden syndrome are caused by changes (mutations) in the PTEN gene. PTEN is a tumor suppressor gene which means that it encodes a protein that helps keep cells from growing and dividing too rapidly or in an uncontrolled way. Mutations in PTEN result in a defective protein that is unable to carry out its normal role. This leads to the development of the various tumors and cancers associated with Cowden syndrome. Rarely, Cowden syndrome is caused by mutations in KLLN, SDHB, SDHC, SDHD, PIK3CA or AKT1. Some affected families have no identifiable mutation in any of the genes associated with Cowden syndrome; in these families, the exact underlying cause is unknown.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Trigeminal Neuralgia ?"}, {"role": "assistant", "content": "Trigeminal neuralgia (TN), also called tic douloureux, is a chronic pain condition that causes extreme, sporadic, sudden burning or shock-like face pain. The painseldomlasts more than a few seconds or a minute or twoper episode. The intensity of pain can be physically and mentally incapacitating. TN pain is typically felt on one side of the jaw or cheek. Episodes can last for days, weeks, or months at a time and then disappear for months or years. In the days before an episode begins, some patients may experience a tingling or numbing sensation or a somewhat constant and aching pain. The attacks often worsen over time, with fewer and shorter pain-free periods before they recur. The intense flashes of pain can be triggered by vibration or contact with the cheek (such as when shaving, washing the face, or applying makeup), brushing teeth, eating, drinking, talking, or being exposed to the wind. TN occurs most often in people over age 50, but it can occur at any age, and is more common in women than in men. There is some evidence that the disorder runs in families, perhaps because of an inherited pattern of blood vessel formation. Although sometimes debilitating, the disorder is not life-threatening.\n \nThe presumed cause of TN is a blood vessel pressing on the trigeminal nerve in the head as it exits the brainstem. TN may be part of the normal aging process but in some cases it is the associated with another disorder, such as multiple sclerosis or other disorders characterized by damage to the myelin sheath that covers certain nerves.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is hepatic lipase deficiency inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Junctional epidermolysis bullosa ?"}, {"role": "assistant", "content": "Junctional epidermolysis bullosa (JEB) is a type of Epidermolysis Bullosa, a group of genetic conditions that cause the skin to be very fragile and to blister easily. JEB is separated into two categories: the Herlitz type and the Non-Herlitz type. The Herlitz type of JEB is very severe, and individuals with this condition often do not survive infancy. The Non-Herlitz type includes several subtypes that cause mild to severe blistering of the skin present at birth or shortly thereafter. JEB is inherited in an autosomal recessive pattern. It is caused by mutations in the LAMB3, COL17A1, or LAMC2, and LAMA3 genes.There is no cure for JEB. Treatment is focused on management of blistering and prevention of secondary infections.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Coloboma, cleft lip/palate and mental retardation syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Coloboma, cleft lip/palate and mental retardation syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Coloboma, cleft lip/palate and mental retardation syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Chorioretinal coloboma 90% Sensorineural hearing impairment 90% Aplasia/Hypoplasia affecting the eye 50% Cognitive impairment 50% Hematuria 50% Iris coloboma 50% Oral cleft 50% Cataract 7.5% Glaucoma 7.5% Nystagmus 7.5% Opacification of the corneal stroma 7.5% Optic atrophy 7.5% Posterior embryotoxon 7.5% Ptosis 7.5% Retinal detachment 7.5% Strabismus 7.5% Visual impairment 7.5% Cleft palate 5% Cleft upper lip 5% Intellectual disability 5% Microphthalmia 5% Autosomal dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) dilated cardiomyopathy with ataxia syndrome ?"}, {"role": "assistant", "content": "Dilated cardiomyopathy with ataxia (DCMA) syndrome is an inherited condition characterized by heart problems, movement difficulties, and other features affecting multiple body systems. Beginning in infancy to early childhood, most people with DCMA syndrome develop dilated cardiomyopathy, which is a condition that weakens and enlarges the heart, preventing it from pumping blood efficiently. Some affected individuals also have long QT syndrome, which is a heart condition that causes the cardiac muscle to take longer than usual to recharge between beats. The irregular heartbeats (arrhythmia) can lead to fainting (syncope) or cardiac arrest and sudden death. Rarely, heart problems improve over time; however, in most cases of DCMA syndrome, affected individuals do not survive past childhood due to heart failure. A small percentage of people with DCMA syndrome have no heart problems at all. By age 2, children with DCMA syndrome have problems with coordination and balance (ataxia). These movement problems can result in delay of motor skills such as standing and walking, but most older children with DCMA syndrome can walk without support. In addition to heart problems and movement difficulties, most individuals with DCMA syndrome grow slowly before and after birth, which leads to short stature. Additionally, many affected individuals have mild intellectual disability. Many males with DCMA syndrome have genital abnormalities such as undescended testes (cryptorchidism) or the urethra opening on the underside of the penis (hypospadias). Other common features of DCMA syndrome include unusually small red blood cells (microcytic anemia), which can cause pale skin; an abnormal buildup of fats in the liver (hepatic steatosis), which can damage the liver; and the degeneration of nerve cells that carry visual information from the eyes to the brain (optic nerve atrophy), which can lead to vision loss. DCMA syndrome is associated with increased levels of a substance called 3-methylglutaconic acid in the urine. The amount of acid does not appear to influence the signs and symptoms of the condition. DCMA syndrome is one of a group of metabolic disorders that can be diagnosed by the presence of increased levels of 3-methylglutaconic acid in urine (3-methylglutaconic aciduria). People with DCMA syndrome also have high urine levels of another acid called 3-methylglutaric acid.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Who is at risk for Breast Cancer? ?"}, {"role": "assistant", "content": "A family history of breast cancer and other factors increase the risk of breast cancer.\n Anything that increases your chance of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. Talk to your doctor if you think you may be at risk for breast cancer. Risk factors for breast cancer include the following: - A personal history of invasive breast cancer, ductal carcinoma in situ (DCIS), or lobular carcinoma in situ (LCIS). - A personal history of benign (noncancer) breast disease. - A family history of breast cancer in a first-degree relative (mother, daughter, or sister). - Inherited changes in the BRCA1 or BRCA2 genes or in other genes that increase the risk of breast cancer. - Breast tissue that is dense on a mammogram. - Exposure of breast tissue to estrogen made by the body. This may be caused by: - Menstruating at an early age. - Older age at first birth or never having given birth. - Starting menopause at a later age. - Taking hormones such as estrogen combined with progestin for symptoms of menopause. - Treatment with radiation therapy to the breast/chest. - Drinking alcohol. - Obesity. Older age is the main risk factor for most cancers. The chance of getting cancer increases as you get older. NCI's Breast Cancer Risk Assessment Tool uses a woman's risk factors to estimate her risk for breast cancer during the next five years and up to age 90. This online tool is meant to be used by a health care provider. For more information on breast cancer risk, call 1-800-4-CANCER.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Indigestion ?"}, {"role": "assistant", "content": "Indigestion can be caused by a condition in the digestive tract such as gastroesophageal reflux disease (GERD), peptic ulcer disease, cancer, or abnormality of the pancreas or bile ducts. If the condition improves or resolves, the symptoms of indigestion usually improve.\n \nSometimes a person has indigestion for which a cause cannot be found. This type of indigestion, called functional dyspepsia, is thought to occur in the area where the stomach meets the small intestine. The indigestion may be related to abnormal motilitythe squeezing or relaxing actionof the stomach muscle as it receives, digests, and moves food into the small intestine.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Alcohol Use and Older Adults ?"}, {"role": "assistant", "content": "Talking about alcohol use with a professional is beneficial to many people. Counseling either one-on-one or in groups can help develop skills to stop or reduce drinking, develop reachable goals, manage the triggers that lead to alcohol misuse and build a strong social support system that supports healthy habits. There are many kinds of counseling approaches. - cognitive behavior therapy - motivational enhancement therapy - marital and family counseling - brief interventions cognitive behavior therapy motivational enhancement therapy marital and family counseling brief interventions Learn more about each type of behavioral therapy. Counseling can be provided by - primary care doctors - psychiatrists - psychologists - social workers - certified alcohol counselors. primary care doctors psychiatrists psychologists social workers certified alcohol counselors.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Elbow Injuries and Disorders ?"}, {"role": "assistant", "content": "Your elbow joint is made up of bone, cartilage, ligaments and fluid. Muscles and tendons help the elbow joint move. When any of these structures is hurt or diseased, you have elbow problems. Many things can make your elbow hurt. A common cause is tendinitis, an inflammation or injury to the tendons that attach muscle to bone. Tendinitis of the elbow is a sports injury, often from playing tennis or golf. You may also get tendinitis from overuse of the elbow. Other causes of elbow pain include sprains, strains, fractures, dislocations, bursitis and arthritis. Treatment depends on the cause.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) TARP syndrome ?"}, {"role": "assistant", "content": "TARP syndrome is a rare condition affecting males that causes several birth defects. TARP stands for Talipes equinovarus, Atrial septal defect, Robin sequence, and Persistent left superior vena cava. Those with TARP syndrome have clubfoot deformity (talipes equinovarus) and congenital heart defects involving failure of the upper heart chambers to close (atrial septal defect). The Robin sequence (also known as Pierre Robins sequence) is characterized by a small lower jaw at birth that prevents proper feeding of the infant, followed by a retracted or displaced tongue. A high-arched, cleft soft palate is also commonly seen. Affected individuals also have persistent left superior vena cava. TARP syndrome has been reported to cause death before birth or soon after birth. This condition is caused by mutations in the RBM10 gene and is inherited in an X-linked recessive fashion.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to Amish lethal microcephaly ?"}, {"role": "assistant", "content": "Mutations in the SLC25A19 gene cause Amish lethal microcephaly. The SLC25A19 gene provides instructions for producing a protein that is a member of the solute carrier (SLC) family of proteins. Proteins in the SLC family transport various compounds across the membranes surrounding the cell and its component parts. The protein produced from the SLC25A19 gene transports a molecule called thiamine pyrophosphate into the mitochondria, the energy-producing centers of cells. This compound is involved in the activity of a group of mitochondrial enzymes called the dehydrogenase complexes, one of which is the alpha-ketoglutarate dehydrogenase complex. The transport of thiamine pyrophosphate into the mitochondria is believed to be important in brain development. All known individuals with Amish lethal microcephaly have a mutation in which the protein building block (amino acid) alanine is substituted for the amino acid glycine at position 177 of the SLC25A19 protein, written as Gly177Ala or G177A. Researchers believe that this mutation interferes with the transport of thiamine pyrophosphate into the mitochondria and the activity of the alpha-ketoglutarate dehydrogenase complex, resulting in the abnormal brain development and alpha-ketoglutaric aciduria seen in Amish lethal microcephaly.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Familial osteochondritis dissecans ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Familial osteochondritis dissecans? The signs and symptoms of osteochondritis dissecans vary from person to person. If the piece of cartilage and bone remain close to where they detached, they may not cause any symptoms. However, affected people may experience the following if the cartilage and bone travel into the joint space: Pain, swelling and/or tenderness Joint popping Joint weakness Decreased range of motion Although osteochondritis dissecans can develop in any joint of the body, the knee, ankle and elbow are most commonly affected. Most people only develop the condition in a single joint. The Human Phenotype Ontology provides the following list of signs and symptoms for Familial osteochondritis dissecans. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Exostoses - Growth abnormality - Osteoarthritis - Osteochondrosis dissecans - Short stature - Waddling gait - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Facial Injuries and Disorders ?"}, {"role": "assistant", "content": "Face injuries and disorders can cause pain and affect how you look. In severe cases, they can affect sight, speech, breathing and your ability to swallow. Broken bones, especially the bones of your nose, cheekbone and jaw, are common facial injuries. Certain diseases also lead to facial disorders. For example, nerve diseases like trigeminal neuralgia or Bell's palsy sometimes cause facial pain, spasms and trouble with eye or facial movement. Birth defects can also affect the face. They can cause underdeveloped or unusually prominent facial features or a lack of facial expression. Cleft lip and palate are a common facial birth defect.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Ichthyosis and male hypogonadism ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Ichthyosis and male hypogonadism? The Human Phenotype Ontology provides the following list of signs and symptoms for Ichthyosis and male hypogonadism. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis - Anosmia - Congenital ichthyosiform erythroderma - Gonadotropin deficiency - Hyperchromic macrocytic anemia - Hypogonadotrophic hypogonadism - Intellectual disability - Male hypogonadism - Rod-cone dystrophy - Seizures - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is coloboma inherited ?"}, {"role": "assistant", "content": "Most often, isolated coloboma is not inherited, and there is only one affected individual in a family. However, the affected individual is still at risk of passing the coloboma on to his or her own children. In cases when it is passed down in families, coloboma can have different inheritance patterns. Isolated coloboma is sometimes inherited in an autosomal dominant pattern, which means one copy of an altered gene in each cell is sufficient to cause the disorder. Isolated coloboma can also be inherited in an autosomal recessive pattern, which means both copies of a gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of a mutated gene, but they typically do not show signs and symptoms of the condition. Less commonly, isolated coloboma may have X-linked dominant or X-linked recessive patterns of inheritance. X-linked means that a gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. X-linked dominant means that in females (who have two X chromosomes), a mutation in one of the two copies of a gene in each cell is sufficient to cause the disorder. In males (who have only one X chromosome), a mutation in the only copy of a gene in each cell causes the disorder. In most cases, males experience more severe symptoms of the disorder than females. X-linked recessive means that in females, a mutation would have to occur in both copies of a gene to cause the disorder. In males, one altered copy of a gene in each cell is sufficient to cause the condition. Because it is unlikely that females will have two altered copies of a particular gene, males are affected by X-linked recessive disorders much more frequently than females. When coloboma occurs as a feature of a genetic syndrome or chromosomal abnormality, it may cluster in families according to the inheritance pattern for that condition, which may be autosomal dominant, autosomal recessive, or X-linked.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Pregnancy and Thyroid Disease ?"}, {"role": "assistant", "content": "Thyroid disease is a disorder that affects the thyroid gland. Sometimes the body produces too much or too little thyroid hormone. Thyroid hormones regulate metabolismthe way the body uses energyand affect nearly every organ in the body. Too much thyroid hormone is called hyperthyroidism and can cause many of the bodys functions to speed up. Too little thyroid hormone is called hypothyroidism and can cause many of the bodys functions to slow down.\n \nThyroid hormone plays a critical role during pregnancy both in the development of a healthy baby and in maintaining the health of the mother.\n \nWomen with thyroid problems can have a healthy pregnancy and protect their fetuses health by learning about pregnancys effect on the thyroid, keeping current on their thyroid function testing, and taking the required medications.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Severe intellectual disability-progressive spastic diplegia syndrome ?"}, {"role": "assistant", "content": "Severe intellectual disability-progressive spastic diplegia syndrome is a rare condition that has been described in a few people with severe intellectual disability . Other signs and symptoms include progressive microcephaly (very small head); ataxia (lack of coordination); spasticity; and/or skin, hair and mild facial anomalies. It is caused by changes (mutations) in the CTNNB1 gene and it is inherited in an autosomal dominant fashion. Treatment is based on the signs and symptoms present in each person.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "what research (or clinical trials) is being done for Childhood Vascular Tumors ?"}, {"role": "assistant", "content": "New types of treatment are being tested in clinical trials.\n Information about clinical trials is available from the NCI website.\n \n \n Patients may want to think about taking part in a clinical trial.\n For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the research process. Clinical trials are done to find out if new treatments are safe and effective or better than the standard treatment. Many of today's standard treatments are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way disease will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward.\n \n \n Patients can enter clinical trials before, during, or after starting their cancer treatment.\n Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose tumors have not gotten better. There are also clinical trials that test new ways to stop tumors from recurring (coming back) or reduce the side effects of treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Kimura disease ?"}, {"role": "assistant", "content": "How might Kimura disease be treated? For individuals with symptoms caused by Kimura disease, surgery to remove the nodules is the treatment of choice; however, the nodules often reappear after surgery. Steroids (such as prednisone), taken by mouth or via an injection in the skin, can shrink the nodules but rarely result in a cure. Other, less common, treatments include oral pentoxifylline, medication that supresses the immune system (such as cyclosporine), radiotherapy, and a combination of all trans-retinoic acid and prednisone. It is important to consult with your healthcare provider before taking any medication.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for keratoderma with woolly hair ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of keratoderma with woolly hair: - Gene Review: Gene Review: Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy - Gene Review: Gene Review: Dilated Cardiomyopathy Overview - Genetic Testing Registry: Arrhythmogenic right ventricular cardiomyopathy, type 11 - Genetic Testing Registry: Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis - Genetic Testing Registry: Naxos disease - Genetic Testing Registry: Palmoplantar keratoderma and woolly hair - National Heart, Lung, and Blood Institute: How is Cardiomyopathy Diagnosed? - National Heart, Lung, and Blood Institute: How is Cardiomyopathy Treated? These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is X-linked intellectual disability, Siderius type inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to prevent Carotid Artery Disease ?"}, {"role": "assistant", "content": "Taking action to control your risk factors can help prevent or delay carotid artery disease and stroke. Your risk for carotid artery disease increases with the number of risk factors you have.\n \nOne step you can take is to adopt a heart-healthy lifestyle, which can include:\n \nHeart-Healthy Eating. Following heart-healthy eating is an important part of a healthy lifestyle. Dietary Approaches to Stop Hypertension (DASH)is a program that promotes heart-healthy eating.\n \nMaintaining a Healthy Weight. If youre overweight or obese, work with your doctor to create a reasonable plan for weight loss. Controlling your weight helps you control risk factors for carotid arterydisease.\n \nPhysical Activity. Be as physically active as you can. Physical activity can improve your fitness level and your health. Ask your doctor what types and amounts of activity are safe for you. Read more about Physical Activity and Your Heart.\n \nQuit Smoking. If you smoke, quit. Talk with your doctor about programs and products that can help you quit.\n \nOther steps that can prevent or delay carotid artery disease include knowing your family history of carotid artery disease. If you or someone in your family has carotid artery disease, be sure to tell your doctor.\n \nIf lifestyle changes arent enough, your doctor may prescribe medicines to control your carotid artery disease risk factors. Take all of your medicines as your doctor advises.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Unna-Thost palmoplantar keratoderma ?"}, {"role": "assistant", "content": "Unna-Thost palmoplantar keratoderma is a type of diffuse palmoplantar keratoderma that mostly affects the palms of the hands and soles of the feet. It usually begins in early childhood with redness of the palms and soles. The palms and soles gradually become thicker and develop a yellowish, waxy appearance. Increased sweating (hyperhidrosis) is quite common and there is a tendency to fungal and bacterial infections of the feet. This condition usually does not extend beyond the hands and feet. It may affect the knuckle pads and nails, but usually does not involve the thin skin on the top of the feet or hands. Unna-Thost palmoplantar keratoderma is inherited in an autosomal dominant fashion and caused by mutations in the KRT1 gene.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to X-linked hyper IgM syndrome ?"}, {"role": "assistant", "content": "Mutations in the CD40LG gene cause X-linked hyper IgM syndrome. This gene provides instructions for making a protein called CD40 ligand, which is found on the surface of immune system cells known as T cells. CD40 ligand attaches like a key in a lock to its receptor protein, which is located on the surface of immune system cells called B cells. B cells are involved in the production of antibodies, and initially they are able to make only IgM antibodies. When CD40 ligand and its receptor protein are connected, they trigger a series of chemical signals that instruct the B cell to start making IgG, IgA, or IgE antibodies. CD40 ligand is also necessary for T cells to interact with other cells of the immune system, and it plays a key role in T cell differentiation (the process by which cells mature to carry out specific functions). Mutations in the CD40LG gene lead to the production of an abnormal CD40 ligand or prevent production of this protein. If CD40 ligand does not attach to its receptor on B cells, these cells cannot produce IgG, IgA, or IgE antibodies. Mutations in the CD40LG gene also impair the T cell's ability to differentiate and interact with other immune system cells. People with X-linked hyper IgM syndrome are more susceptible to infections because they do not have a properly functioning immune system.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Epilepsy occipital calcifications ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Epilepsy occipital calcifications? The Human Phenotype Ontology provides the following list of signs and symptoms for Epilepsy occipital calcifications. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis 90% Abnormality of the cerebral vasculature 90% Anemia 90% Cerebral calcification 90% Malabsorption 90% Seizures 90% Visual impairment 90% Cognitive impairment 7.5% Celiac disease - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Brittle diabetes ?"}, {"role": "assistant", "content": "What causes brittle diabetes? There are multiple causes of brittle diabetes. Emotional stress seems to play an important role, in some cases leading to hormonal inbalances which can lead to brittle diabetes. Emotional stress can also lead to a shift in the behavior of an individual, leading them to neglect their self-care. Other cases can be traced to physiological causes, including malabsorption, delayed gastric emptying due to autonomic neuropathy (gastroparesis), celiac disease, impaired glucose counterregulation (which doesn't allow the patient's body to react as it should when blood glucose levels drop), hypothyroidism and adrenal insufficiency, drug or alcohol use, systemic insulin resistance, and abnormal insulin absorption or degradation.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to Miller-Dieker syndrome ?"}, {"role": "assistant", "content": "Miller-Dieker syndrome is caused by a deletion of genetic material near the end of the short (p) arm of chromosome 17. The signs and symptoms of Miller-Dieker syndrome are probably related to the loss of multiple genes in this region. The size of the deletion varies among affected individuals. Researchers are working to identify all of the genes that contribute to the features of Miller-Dieker syndrome. They have determined that the loss of a particular gene on chromosome 17, PAFAH1B1, is responsible for the syndrome's characteristic sign of lissencephaly. The loss of another gene, YWHAE, in the same region of chromosome 17 increases the severity of the lissencephaly in people with Miller-Dieker syndrome. Additional genes in the deleted region probably contribute to the varied features of Miller-Dieker syndrome.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Goodpasture Syndrome ?"}, {"role": "assistant", "content": "A health care provider may order the following tests to diagnose Goodpasture syndrome:\n \n- Urinalysis. Urinalysis is testing of a urine sample. The urine sample is collected in a special container in a health care providers office or commercial facility and can be tested in the same location or sent to a lab for analysis. For the test, a nurse or technician places a strip of chemically treated paper, called a dipstick, into the urine. Patches on the dipstick change color when protein or blood are present in urine. A high number of red blood cells and high levels of protein in the urine indicate kidney damage. - Blood test. A blood test involves drawing blood at a health care providers office or commercial facility and sending the sample to a lab for analysis. The blood test can show the presence of anti-GBM antibodies. - Chest x ray. An x ray of the chest is performed in a health care providers office, outpatient center, or hospital by an x-ray technician, and the images are interpreted by a radiologista doctor who specializes in medical imaging. Abnormalities in the lungs, if present, can be seen on the x ray. - Biopsy. A biopsy is a procedure that involves taking a piece of kidney tissue for examination with a microscope. The biopsy is performed by a health care provider in a hospital with light sedation and local anesthetic. The health care provider uses imaging techniques such as ultrasound or a computerized tomography scan to guide the biopsy needle into the kidney. The tissue is examined in a lab by a pathologista doctor who specializes in diagnosing diseases. The test can show crescent-shaped changes in the glomeruli and lines of antibodies attached to the GBM.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Urinary Tract Infections in Children ?"}, {"role": "assistant", "content": "Once the infection has cleared, more tests may be recommended to check for abnormalities in the urinary tract. Repeated infections in an abnormal urinary tract may cause kidney damage. The kinds of tests ordered will depend on the child and the type of urinary infection. Because no single test can tell everything about the urinary tract that might be important, more than one of the tests listed below may be needed.\n \n- Kidney and bladder ultrasound. Ultrasound uses a device, called a transducer, that bounces safe, painless sound waves off organs to create an image of their structure. The procedure is performed in a health care providers office, outpatient center, or hospital by a specially trained technician, and the images are interpreted by a radiologista doctor who specializes in medical imaging; anesthesia is not needed. The images can show certain abnormalities in the kidneys and bladder. However, this test cannot reveal all important urinary abnormalities or measure how well the kidneys work. - Voiding cystourethrogram. This test is an x-ray image of the bladder and urethra taken while the bladder is full and during urination, also called voiding. The childs bladder and urethra are filled with a special dye, called contrast medium, to make the structures clearly visible on the x-ray images. The x-ray machine captures images of the contrast medium while the bladder is full and when the child urinates. The procedure is performed in a health care providers office, outpatient center, or hospital by an x-ray technician supervised by a radiologist, who then interprets the images. Anesthesia is not needed, but sedation may be used for some children. This test can show abnormalities of the inside of the urethra and bladder. The test can also determine whether the flow of urine is normal when the bladder empties. - Computerized tomography (CT) scan. CT scans use a combination of x rays and computer technology to create three-dimensional (3-D) images. A CT scan may include the injection of contrast medium. CT scans require the child to lie on a table that slides into a tunnel-shaped device where the x rays are taken. The procedure is performed in an outpatient center or hospital by an x-ray technician, and the images are interpreted by a radiologist; anesthesia is not needed. CT scans can provide clearer, more detailed images to help the health care provider understand the problem. - Magnetic resonance imaging (MRI). MRI machines use radio waves and magnets to produce detailed pictures of the bodys internal organs and soft tissues without using x rays. An MRI may include the injection of contrast medium. With most MRI machines, the child lies on a table that slides into a tunnel-shaped device that may be open ended or closed at one end; some newer machines are designed to allow the child to lie in a more open space. The procedure is performed in an outpatient center or hospital by a specially trained technician, and the images are interpreted by a radiologist; anesthesia is not needed, though light sedation may be used for children with a fear of confined spaces. Like CT scans, MRIs can provide clearer, more detailed images. - Radionuclide scan. A radionuclide scan is an imaging technique that relies on the detection of small amounts of radiation after injection of radioactive chemicals. Because the dose of the radioactive chemicals is small, the risk of causing damage to cells is low. Special cameras and computers are used to create images of the radioactive chemicals as they pass through the kidneys. Radionuclide scans are performed in a health care providers office, outpatient center, or hospital by a specially trained technician, and the images are interpreted by a radiologist; anesthesia is not needed. Radioactive chemicals injected into the blood can provide information about kidney function. Radioactive chemicals can also be put into the fluids used to fill the bladder and urethra for x ray, MRI, and CT imaging. Radionuclide scans expose a child to about the same amount or less of radiation as a conventional x ray. - Urodynamics. Urodynamic testing is any procedure that looks at how well the bladder, sphincters, and urethra are storing and releasing urine. Most of these tests are performed in the office of a urologista doctor who specializes in urinary problemsby a urologist, physician assistant, or nurse practitioner. Some procedures may require light sedation to keep the child calm. Most urodynamic tests focus on the bladders ability to hold urine and empty steadily and completely. Urodynamic tests can also show whether the bladder is having abnormal contractions that cause leakage. A health care provider may order these tests if there is evidence that the child has some kind of nerve damage or dysfunctional voidingunhealthy urination habits such as holding in urine when the bladder is full.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Growth Failure in Children with Chronic Kidney Disease ?"}, {"role": "assistant", "content": "Researchers have found that many factors cause growth failure in children with CKD. In addition to removing wastes and extra fluid from the blood, the kidneys perform important functions for a childs growth. Understanding normal kidney function and growth helps families understand what causes growth failure in children with CKD.\n \nNormal kidney function helps maintain the\n \n- balance of nutrients and minerals, such as calcium and phosphorus, in the blood. These minerals are essential for normal bone growth. The kidneys use a hormone called calcitriol, a form of vitamin D, to help bones absorb the right amount of calcium from the blood. The kidneys also remove extra phosphorus, helping balance phosphorus and calcium levels in the blood. - bodys ability to use growth hormone. Growth hormone is necessary during childhood to help bones grow and stay healthy. The pituitary gland naturally produces growth hormone, which acts as a messenger to help the body grow. Growth hormone tells the liver to produce another hormone, called insulin-like growth factor, that travels to muscles, organs, and bones and tells them to grow. - correct levels of erythropoietin in the body. Erythropoietin is a hormone that helps bone marrow make red blood cells. - proper balance of sodium, also called salt; potassium; and acid-base levels in the blood. Acid-base balance refers to the amount of acid in the blood.\n \nDamaged kidneys can slow a childs growth by\n \n- causing mineral and bone disorder, which occurs when - vitamin D is not turned into calcitriol, which starves the bones of calcium. - phosphorus levels rise in the blood and draw calcium out of the bones and into the blood, causing the bones to weaken. - creating an imbalance of sodium, potassium, and acid-base levels in the blood, also called acidosis. When blood is not balanced, the body slows growth to focus energy on restoring the balance. - decreasing appetite. A child with CKD may not be hungry, or he or she may not have the energy to eat, which may lead to poor nutrition and slower growth. - decreasing the production of erythropoietin. When erythropoietin levels are low, a child may develop anemiaa condition that develops when the blood does not have enough healthy red blood cells to carry oxygen to cells throughout the body. Anemia can cause growth to slow or stop. - making an abnormally large amount of urine, called polyuria, which disrupts the bodys fluid balance. A child with polyuria loses minerals as well. The body slows growth to make up for the lost fluid and minerals. - preventing the body from correctly using growth hormone. When the kidneys are damaged, waste builds up in the blood and the body does not properly process growth hormone.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Severe congenital neutropenia X-linked ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Severe congenital neutropenia X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Severe congenital neutropenia X-linked. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of neutrophils 90% Decreased antibody level in blood 90% Abnormality of the skin - Congenital neutropenia - Recurrent bacterial infections - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Autoimmune hepatitis ?"}, {"role": "assistant", "content": "How is autoimmune hepatitis diagnosed? The diagnosis of autoimmune hepatitis is typically made based on symptoms, blood tests, and a liver biopsy.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is adenosine deaminase deficiency inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Kidney Failure: Eat Right to Feel Right on Hemodialysis ?"}, {"role": "assistant", "content": "Before you were on dialysis, your doctor may have told you to follow a low-protein diet. Being on dialysis changes this. Most people on dialysis are encouraged to eat as much high-quality protein as they can. Protein helps you keep muscle and repair tissue. The better nourished you are, the healthier you will be. You will also have greater resistance to infection and recover from surgery more quickly.\n \nYour body breaks protein down into a waste product called urea. If urea builds up in your blood, it's a sign you have become very sick. Eating mostly high-quality proteins is important because they produce less waste than others. High-quality proteins come from meat, fish, poultry, and eggs (especially egg whites).\n \n\n \nTalk With a Dietitian Meat, fish, and chicken are good sources of protein. Talk with a dietitian about the meats you eat. I will eat ______ servings of meat each day. A regular serving size is 3 ounces. This is about the size of the palm of your hand or a deck of cards. Try to choose lean (low-fat) meats that are also low in phosphorus. If you are a vegetarian, ask about other ways to get your protein. Low-fat milk is a good source of protein. But milk is high in phosphorus and potassium. And milk adds to your fluid intake. Talk with a dietitian to see if milk fits into your food plan. I (will) (will not) drink milk. I will drink ______ cup(s) of milk a day.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Overweight and Obesity ?"}, {"role": "assistant", "content": "Successful weight-loss treatments include setting goals and making lifestyle changes, such as eating fewer calories and being physically active. Medicines and weight-loss surgery also are options for some people if lifestyle changes aren't enough.\n \nSet Realistic Goals\n \nSetting realistic weight-loss goals is an important first step to losing weight.\n \nFor Adults\n \nTry to lose 5 to 10 percent of your current weight over 6 months. This will lower your risk for coronary heart disease (CHD) and other conditions.\n \nThe best way to lose weight is slowly. A weight loss of 1 to 2 pounds a week is do-able, safe, and will help you keep off the weight. It also will give you the time to make new, healthy lifestyle changes.\n \nIf you've lost 10 percent of your body weight, have kept it off for 6 months, and are still overweight or obese, you may want to consider further weight loss.\n \nFor Children and Teens\n \nIf your child is overweight or at risk for overweight or obesity, the goal is to maintain his or her current weight and to focus on eating healthy and being physically active. This should be part of a family effort to make lifestyle changes.\n \nIf your child is overweight or obese and has a health condition related to overweight or obesity, your doctor may refer you to a pediatric obesity treatment center.\n \nLifestyle Changes\n \nLifestyle changes can help you and your family achieve long-term weight-loss success. Example of lifestyle changes include:\n \nFocusing on balancing energy IN (calories from food and drinks) with energy OUT (physical activity)\n \nFollowing a healthy eating plan\n \nLearning how to adopt healthy lifestyle habits\n \nOver time, these changes will become part of your everyday life.\n \nCalories\n \nCutting back on calories (energy IN) will help you lose weight. To lose 1 to 2pounds a week, adults should cut back their calorie intake by 500 to 1,000calories a day.\n \nIn general, having 1,000 to 1,200 calories a day will help most women lose weight safely.\n \nIn general, having 1,200 to 1,600 calories a day will help most men lose weight safely. This calorie range also is suitable for women who weigh 165pounds or more or who exercise routinely.\n \nThese calorie levels are a guide and may need to be adjusted. If you eat 1,600calories a day but don't lose weight, then you may want to cut back to 1,200calories. If you're hungry on either diet, then you may want to add 100 to 200calories a day.\n \nVery low-calorie diets with fewer than 800 calories a day shouldn't be used unless your doctor is monitoring you.\n \nFor overweight children and teens, it's important to slow the rate of weight gain. However, reduced-calorie diets aren't advised unless you talk with a health care provider.\n \nHealthy Eating Plan\n \nA healthy eating plan gives your body the nutrients it needs every day. It has enough calories for good health, but not so many that you gain weight.\n \nA healthy eating plan is low in saturated fat, trans fat, cholesterol, sodium (salt), and added sugar. Following a healthy eating plan will lower your risk for heart disease and other conditions.\n \nHealthy foods include:\n \nFat-free and low-fat dairy products, such as low-fat yogurt, cheese, and milk.\n \nProtein foods, such as lean meat, fish, poultry without skin, beans, and peas.\n \nWhole-grain foods, such as whole-wheat bread, oatmeal, and brown rice. Other grain foods include pasta, cereal, bagels, bread, tortillas, couscous, and crackers.\n \nFruits, which can be fresh, canned, frozen, or dried.\n \nVegetables, which can be fresh, canned (without salt), frozen, or dried.\n \nCanola and olive oils, and soft margarines made from these oils, are heart healthy. However, you should use them in small amounts because they're high in calories.\n \nYou also can include unsalted nuts, like walnuts and almonds, in your diet as long as you limit the amount you eat (nuts also are high in calories).\n \nThe National Heart, Lung, and Blood Institute's \"Aim for a Healthy Weight\" patient booklet provides more information about following a healthy eating plan.\n \nFoods to limit. Foods that are high in saturated and trans fats and cholesterol raise blood cholesterol levels and also might be high in calories. Fats and cholesterol raise your risk for heart disease, so they should be limited.\n \nSaturated fat is found mainly in:\n \nFatty cuts of meat, such as ground beef, sausage, and processed meats (for example, bologna, hot dogs, and deli meats)\n \nPoultry with the skin\n \nHigh-fat dairy products like whole-milk cheeses, whole milk, cream, butter, and ice cream\n \nLard, coconut, and palm oils, which are found in many processed foods\n \nTrans fat is found mainly in:\n \nFoods with partially hydrogenated oils, such as many hard margarines and shortening\n \nBaked products and snack foods, such as crackers, cookies, doughnuts, and breads\n \nFoods fried in hydrogenated shortening, such as french fries and chicken\n \nCholesterol mainly is found in:\n \nEgg yolks\n \nOrgan meats, such as liver\n \nShrimp\n \nWhole milk or whole-milk products, such as butter, cream, and cheese\n \nLimiting foods and drinks with added sugars, like high-fructose corn syrup, is important. Added sugars will give you extra calories without nutrients like vitamins and minerals. Added sugars are found in many desserts, canned fruit packed in syrup, fruit drinks, and nondiet drinks.\n \nCheck the list of ingredients on food packages for added sugars like high-fructose corn syrup. Drinks that contain alcohol also will add calories, so it's a good idea to limit your alcohol intake.\n \nPortion size. A portion is the amount of food that you choose to eat for a meal or snack. It's different from a serving, which is a measured amount of food and is noted on the Nutrition Facts label on food packages.\n \nAnyone who has eaten out lately is likely to notice how big the portions are. In fact, over the past 40 years, portion sizes have grown significantly. These growing portion sizes have changed what we think of as a normal portion.\n \nCutting back on portion size is a good way to eat fewer calories and balance your energy IN.\n \nFood weight. Studies have shown that we all tend to eat a constant \"weight\" of food. Ounce for ounce, our food intake is fairly consistent. Knowing this, you can lose weight if you eat foods that are lower in calories and fat for a given amount of food.\n \nFor example, replacing a full-fat food product that weighs 2 ounces with a low-fat product that weighs the same helps you cut back on calories. Another helpful practice is to eat foods that contain a lot of water, such as vegetables, fruits, and soups.\n \nPhysical Activity\n \nBeing physically active and eating fewer calories will help you lose weight and keep weight off over time. Physical activity also will benefit you in other ways. It will:\n \nLower your risk for heart disease, heart attack, diabetes, and cancers (such as breast, uterine, and colon cancers)\n \nStrengthen your heart and help your lungs work better\n \nStrengthen your muscles and keep your joints in good condition\n \nSlow bone loss\n \nGive you more energy\n \nHelp you relax and better cope with stress\n \nAllow you to fall asleep more quickly and sleep more soundly\n \nGive you an enjoyable way to share time with friends and family\n \nThe four main types of physical activity are aerobic, muscle-strengthening, bone strengthening, and stretching. You can do physical activity with light, moderate, or vigorous intensity. The level of intensity depends on how hard you have to work to do the activity.\n \nPeople vary in the amount of physical activity they need to control their weight. Many people can maintain their weight by doing 150 to 300 minutes (2 hours and 30 minutes to 5 hours) of moderate-intensity activity per week, such as brisk walking.\n \nPeople who want to lose a large amount of weight (more than 5 percent of their body weight) may need to do more than 300 minutes of moderate-intensity activity per week. This also may be true for people who want to keep off weight that they've lost.\n \nYou don't have to do the activity all at once. You can break it up into short periods of at least 10 minutes each.\n \nIf you have a heart problem or chronic disease, such as heart disease, diabetes, or high blood pressure, talk with your doctor about what types of physical activity are safe for you. You also should talk with your doctor about safe physical activities if you have symptoms such as chest pain or dizziness.\n \nChildren should get at least 60 minutes or more of physical activity every day. Most physical activity should be moderate-intensity aerobic activity. Activity should vary and be a good fit for the child's age and physical development.\n \nMany people lead inactive lives and might not be motivated to do more physical activity. When starting a physical activity program, some people may need help and supervision to avoid injury.\n \nIf you're obese, or if you haven't been active in the past, start physical activity slowly and build up the intensity a little at a time.\n \nWhen starting out, one way to be active is to do more everyday activities, such as taking the stairs instead of the elevator and doing household chores and yard work. The next step is to start walking, biking, or swimming at a slow pace, and then build up the amount of time you exercise or the intensity level of the activity.\n \nTo lose weight and gain better health, it's important to get moderate-intensity physical activity. Choose activities that you enjoy and that fit into your daily life.\n \nA daily, brisk walk is an easy way to be more active and improve your health. Use a pedometer to count your daily steps and keep track of how much you're walking. Try to increase the number of steps you take each day. Other examples of moderate-intensity physical activity include dancing, gardening, and water aerobics.\n \nFor greater health benefits, try to step up your level of activity or the length of time you're active. For example, start walking for 10 to 15 minutes three times a week, and then build up to brisk walking for 60 minutes, 5 days a week.\n \nFor more information about physical activity, go to the Department of Health and Human Services \"2008 Physical Activity Guidelines for Americans\" and the Health Topics Physical Activity and Your Heart article.\n \nBehavioral Changes\n \nChanging your behaviors or habits related to food and physical activity is important for losing weight. The first step is to understand which habits lead you to overeat or have an inactive lifestyle. The next step is to change these habits.\n \nBelow are some simple tips to help you adopt healthier habits.\n \nChange your surroundings. You might be more likely to overeat when watching TV, when treats are available at work, or when you're with a certain friend. You also might find it hard to motivate yourself to be physically active. However, you can change these habits.\n \nInstead of watching TV, dance to music in your living room or go for a walk.\n \nLeave the office break room right after you get a cup of coffee.\n \nBring a change of clothes to work. Head straight to an exercise class on the way home from work.\n \nPut a note on your calendar to remind yourself to take a walk or go to your exercise class.\n \nKeep a record. A record of your food intake and the amount of physical activity that you do each day will help inspire you. You also can keep track of your weight. For example, when the record shows that you've been meeting your physical activity goals, you'll want to keep it up. A record also is an easy way to track how you're doing, especially if you're working with a registered dietitian or nutritionist.\n \nSeek support. Ask for help or encouragement from your friends, family, and health care provider. You can get support in person, through e-mail, or by talking on the phone. You also can join a support group.\n \nReward success. Reward your success for meeting your weight-loss goals or other achievements with something you would like to do, not with food. Choose rewards that you'll enjoy, such as a movie, music CD, an afternoon off from work, a massage, or personal time.\n \nWeight-Loss Medicines\n \nWeight-loss medicines approved by the Food and Drug Administration (FDA) might be an option for some people.\n \nIf you're not successful at losing 1 pound a week after 6months of using lifestyle changes, medicines may help. You should only use medicines as part of a program that includes diet, physical activity, and behavioral changes.\n \nWeight-loss medicines might be suitable for adults who are obese (a BMI of 30 or greater). People who have BMIs of 27 or greater, and who are at risk for heart disease and other health conditions, also may benefit from weight-loss medicines.\n \nSibutramine (Meridia)\n \nAs of October 2010, the weight-loss medicine sibutramine (Meridia) was taken off the market in the United States. Research showed that the medicine may raise the risk of heart attack and stroke. \n \nOrlistat (Xenical and Alli)\n \nOrlistat (Xenical) causes a weight loss between 5 and 10 pounds, although some people lose more weight. Most of the weight loss occurs within the first 6 months of taking the medicine.\n \nPeople taking Xenical need regular checkups with their doctors, especially during the first year of taking the medicine. During checkups, your doctor will check your weight, blood pressure, and pulse and may recommend other tests. He or she also will talk with you about any medicine side effects and answer your questions.\n \nThe FDA also has approved Alli, an over-the-counter (OTC) weight-loss aid for adults. Alli is the lower dose form of orlistat. Alli is meant to be used along with a reduced-calorie, low-fat diet and physical activity. In studies, most people taking Alli lost 5 to 10pounds over 6 months.\n \nBoth Xenical and Alli reduce the absorption of fats, fat calories, and vitamins A, D, E, and K to promote weight loss. Both medicines also can cause mild side effects, such as oily and loose stools.\n \nAlthough rare, some reports of liver disease have occurred with the use of orlistat. More research is needed to find out whether the medicine plays a role in causing liver disease. Talk with your doctor if youre considering using Xenical or Alli to lose weight. He or she can discuss the risks and benefits with you.\n \nYou also should talk with your doctor before starting orlistat if youre taking blood-thinning medicines or being treated for diabetes or thyroid disease. Also, ask your doctor whether you should take a multivitamin due to the possible loss of some vitamins.\n \nLorcaserin Hydrochloride (Belviq) and Qsymia\n \nIn July 2012, the FDA approved two new medicines for chronic (ongoing) weight management. Lorcaserin hydrochloride (Belviq) and Qsymia are approved for adults who have a BMI of 30 or greater. (Qsymia is a combination of two FDA-approved medicines: phentermine and topiramate.)\n \nThese medicines also are approved for adults with a BMI of 27 or greater who have at least one weight-related condition, such as high blood pressure, type 2 diabetes, or high blood cholesterol.\n \nBoth medicines are meant to be used along with a reduced-calorie diet and physical activity.\n \nOther Medicines\n \nSome prescription medicines are used for weight loss, but aren't FDA-approved for treating obesity. They include:\n \nMedicines to treat depression. Some medicines for depression cause an initial weight loss and then a regain of weight while taking the medicine.\n \nMedicines to treat seizures. Two medicines used for seizures, topiramate and zonisamide, have been shown to cause weight loss. These medicines are being studied to see whether they will be useful in treating obesity.\n \nMedicines to treat diabetes. Metformin may cause small amounts of weight loss in people who have obesity and diabetes. It's not known how this medicine causes weight loss, but it has been shown to reduce hunger and food intake.\n \nOver-the-Counter Products\n \nSome OTC products claim to promote weight loss. The FDA doesn't regulate these products because they're considered dietary supplements, not medicines.\n \nHowever, many of these products have serious side effects and generally aren't recommended. Some of these OTC products include:\n \nEphedra (also called ma huang). Ephedra comes from plants and has been sold as a dietary supplement. The active ingredient in the plant is called ephedrine. Ephedra can cause short-term weight loss, but it also has serious side effects. It causes high blood pressure and stresses the heart. In 2004, the FDA banned the sale of dietary supplements containing ephedra in the United States.\n \nChromium. This is a mineral that's sold as a dietary supplement to reduce body fat. While studies haven't found any weight-loss benefit from chromium, there are few serious side effects from taking it.\n \nDiuretics and herbal laxatives. These products cause you to lose water weight, not fat. They also can lower your body's potassium levels, which may cause heart and muscle problems.\n \nHoodia. Hoodia is a cactus that's native to Africa. It's sold in pill form as an appetite suppressant. However, no firm evidence shows that hoodia works. No large-scale research has been done on humans to show whether hoodia is effective or safe.\n \nWeight-Loss Surgery\n \nWeight-loss surgery might be an option for people who have extreme obesity (BMI of 40 or more) when other treatments have failed.\n \nWeight-loss surgery also is an option for people who have a BMI of 35 or more and life-threatening conditions, such as:\n \nSevere sleep apnea (a condition in which you have one or more pauses in breathing or shallow breaths while you sleep)\n \nObesity-related cardiomyopathy (KAR-de-o-mi-OP-ah-thee; diseases of the heart muscle)\n \nSevere type 2 diabetes\n \nTypes of Weight-Loss Surgery\n \nTwo common weight-loss surgeries include banded gastroplasty and Roux-en-Y gastric bypass. For gastroplasty, a band or staples are used to create a small pouch at the top of your stomach. This surgery limits the amount of food and liquids the stomach can hold.\n \nFor gastric bypass, a small stomach pouch is created with a bypass around part of the small intestine where most of the calories you eat are absorbed. This surgery limits food intake and reduces the calories your body absorbs.\n \nWeight-loss surgery can improve your health and weight. However, the surgery can be risky, depending on your overall health. Gastroplasty has few long-term side effects, but you must limit your food intake dramatically.\n \nGastric bypass has more side effects. They include nausea (feeling sick to your stomach), bloating, diarrhea, and faintness. These side effects are all part of a condition called dumping syndrome. After gastric bypass, you may need multivitamins and minerals to prevent nutrient deficiencies.\n \nLifelong medical followup is needed after both surgeries. Your doctor also may recommend a program both before and after surgery to help you with diet, physical activity, and coping skills.\n \nIf you think you would benefit from weight-loss surgery, talk with your doctor. Ask whether you're a candidate for the surgery and discuss the risks, benefits, and what to expect.\n \nWeight-Loss Maintenance\n \nMaintaining your weight loss over time can be a challenge. For adults, weight loss is a success if you lose at least 10 percent of your initial weight and you don't regain more than 6 or 7 pounds in 2 years. You also must keep a lower waist circumference (at least 2 inches lower than your waist circumference before you lost weight).\n \nAfter 6 months of keeping off the weight, you can think about losing more if:\n \nYou've already lost 5 to 10 percent of your body weight\n \nYou're still overweight or obese\n \nThe key to losing more weight or maintaining your weight loss is to continue with lifestyle changes. Adopt these changes as a new way of life.\n \nIf you want to lose more weight, you may need to eat fewer calories and increase your activity level. For example, if you eat 1,600 calories a day but don't lose weight, you may want to cut back to 1,200 calories. It's also important to make physical activity part of your normal daily routine.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Robinow syndrome inherited ?"}, {"role": "assistant", "content": "As discussed above, Robinow syndrome can have either an autosomal recessive or an autosomal dominant pattern of inheritance. Autosomal recessive inheritance means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Autosomal dominant inheritance means one copy of an altered gene in each cell is sufficient to cause the disorder. In some cases of Robinow syndrome, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for sialic acid storage disease ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of sialic acid storage disease: - Gene Review: Gene Review: Free Sialic Acid Storage Disorders - Genetic Testing Registry: Salla disease - Genetic Testing Registry: Sialic acid storage disease, severe infantile type These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is facioscapulohumeral muscular dystrophy inherited ?"}, {"role": "assistant", "content": "FSHD1 is inherited in an autosomal dominant pattern, which means one copy of the shortened D4Z4 region on a \"permissive\" chromosome 4 is sufficient to cause the disorder. In most cases, an affected person inherits the altered chromosome from one affected parent. Other people with FSHD1 have no history of the disorder in their family. These cases are described as sporadic and are caused by a new (de novo) D4Z4 contraction on one copy of a \"permissive\" chromosome 4. FSHD2 is inherited in a digenic pattern, which means that two independent genetic changes are necessary to cause the disorder. To have FSHD2, an individual must inherit a mutation in the SMCHD1 gene (which is located on chromosome 18) and, separately, they must inherit one copy of a \"permissive\" chromosome 4. Affected individuals typically inherit the SMCHD1 gene mutation from one parent and the \"permissive\" chromosome 4 from the other parent. (Because neither parent has both genetic changes in most cases, they are typically unaffected.)", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) KBG syndrome ?"}, {"role": "assistant", "content": "KBG syndrome is a rare disorder that affects several body systems. \"KBG\" represents the surname initials of the first families diagnosed with the disorder. Common signs and symptoms in individuals with this condition include unusual facial features, skeletal abnormalities, and intellectual disability. A characteristic feature of KBG syndrome is unusually large upper front teeth (macrodontia). Other distinctive facial features include a wide, short skull (brachycephaly), a triangular face shape, widely spaced eyes (hypertelorism), wide eyebrows that may grow together in the middle (synophrys), a prominent nasal bridge, a long space between the nose and upper lip (philtrum), and a thin upper lip. A common skeletal abnormality in people with KBG syndrome is slowed mineralization of bones (delayed bone age); for example, an affected 3-year-old child may have bones more typical of a child of 2. In addition, affected individuals can have abnormalities of the bones of the spine (vertebrae) and ribs. They can also have abnormalities of the bones of the hands, including unusually short or curved fifth (pinky) fingers (brachydactyly or clinodactyly, respectively). Most affected individuals are shorter than average from birth. Development of mental and movement abilities is also delayed in KBG syndrome. Most affected individuals learn to speak and walk later than normal and have mild to moderate intellectual disability. Some people with this condition have behavioral or emotional problems, such as hyperactivity or anxiety. Less common features of KBG syndrome include hearing loss, seizures, and heart defects.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Agnosia ?"}, {"role": "assistant", "content": "Agnosia is a rare disorder characterized by an inability to recognize and identify objects or persons. People with agnosia may have difficulty recognizing the geometric features of an object or face or may be able to perceive the geometric features but not know what the object is used for or whether a face is familiar or not. Agnosia can be limited to one sensory modality such as vision or hearing. For example, a person may have difficulty in recognizing an object as a cup or identifying a sound as a cough. Agnosia can result from strokes, dementia, developmental disorders, or other neurological conditions. It typically results from damage to specific brain areas in the occipital or parietal lobes of the brain. People with agnosia may retain their cognitive abilities in other areas.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Polycythemia vera ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Polycythemia vera? The Human Phenotype Ontology provides the following list of signs and symptoms for Polycythemia vera. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abdominal pain 90% Acute leukemia 90% Bruising susceptibility 90% Coronary artery disease 90% Epistaxis 90% Gastrointestinal hemorrhage 90% Gingival bleeding 90% Hepatomegaly 90% Migraine 90% Myelodysplasia 90% Splenomegaly 90% Tinnitus 90% Vertigo 90% Weight loss 90% Arthralgia 50% Respiratory insufficiency 50% Arterial thrombosis 7.5% Cerebral ischemia 7.5% Portal hypertension 7.5% Pruritus 7.5% Thrombophlebitis 7.5% Autosomal dominant inheritance - Budd-Chiari syndrome - Cerebral hemorrhage - Increased hematocrit - Increased hemoglobin - Increased megakaryocyte count - Increased red blood cell mass - Leukocytosis - Somatic mutation - Sporadic - Thrombocytopenia - Thrombocytosis - Thromboembolism - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Usher syndrome, type 2C ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Usher syndrome, type 2C? The Human Phenotype Ontology provides the following list of signs and symptoms for Usher syndrome, type 2C. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Congenital sensorineural hearing impairment - Rod-cone dystrophy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Empty Sella Syndrome ?"}, {"role": "assistant", "content": "Unless the syndrome results in other medical problems, treatment for endocrine dysfunction associated with pituitary malfunction is symptomatic and supportive. Individuals with primary ESS who have high levels of prolactin may be given bromocriptine. In some cases, particularly when spinal fluid drainage is observed, surgery may be needed.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis ?"}, {"role": "assistant", "content": "NFJS/DPR is a rare condition; its prevalence is unknown. Only a few affected families have been reported in the medical literature.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by adult-onset leukoencephalopathy with axonal spheroids and pigmented glia ?"}, {"role": "assistant", "content": "ALSP is thought to be a rare disorder, although the prevalence is unknown. Because it can be mistaken for other disorders with similar symptoms, ALSP may be underdiagnosed.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Angelman syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Angelman syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Angelman syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the tongue 90% Behavioral abnormality 90% Broad-based gait 90% Cerebral cortical atrophy 90% Clumsiness 90% Cognitive impairment 90% EEG abnormality 90% Incoordination 90% Mandibular prognathia 90% Muscular hypotonia 90% Neurological speech impairment 90% Seizures 90% Sporadic 75% Abnormality of the teeth 50% Hyperreflexia 50% Malar flattening 50% Wide mouth 50% Hernia of the abdominal wall 7.5% Strabismus 7.5% Absent speech - Autosomal dominant inheritance - Blue irides - Brachycephaly - Constipation - Deeply set eye - Drooling - Exotropia - Fair hair - Feeding difficulties in infancy - Flat occiput - Hyperactivity - Hypopigmentation of the skin - Hypoplasia of the maxilla - Intellectual disability, progressive - Intellectual disability, severe - Limb tremor - Macroglossia - Motor delay - Myopia - Nystagmus - Obesity - Paroxysmal bursts of laughter - Progressive gait ataxia - Protruding tongue - Scoliosis - Sleep-wake cycle disturbance - Widely spaced teeth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to hyperferritinemia-cataract syndrome ?"}, {"role": "assistant", "content": "Hyperferritinemia-cataract syndrome is caused by mutations in the FTL gene. This gene provides instructions for making the ferritin light chain, which is one part (subunit) of the protein ferritin. Ferritin is made up of 24 subunits formed into a hollow spherical molecule. The 24 subunits consist of varying numbers of the ferritin light chain and another subunit called the ferritin heavy chain, which is produced from another gene. The proportion of the two subunits varies in different tissues. Ferritin stores and releases iron in cells. Each ferritin molecule can hold as many as 4,500 iron atoms inside its spherical structure. This storage capacity allows ferritin to regulate the amount of iron in cells and tissues. The mutations that cause hyperferritinemia-cataract syndrome are found in a segment of the gene called the iron responsive element (IRE). The IRE normally can attach (bind) to a protein called the iron regulatory protein (IRP). When this binding occurs, the activity (expression) of the FTL gene is stopped to prevent too much ferritin light chain from being produced. This normally occurs when iron levels are low, because under those circumstances less ferritin is needed to store the iron. Mutations in the IRE segment of the FTL gene prevent it from binding with IRP, interfering with the mechanism by which ferritin production is matched to iron levels and resulting in excess ferritin being formed.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is mandibulofacial dysostosis with microcephaly inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases result from new mutations in the gene and occur in people with no history of the disorder in their family. In other cases, an affected person inherits the mutation from a parent. The parent may be mildly affected or may be unaffected. Sometimes the parent has the gene mutation only in some or all of their sperm or egg cells, which is known as germline mosaicism. In these cases, the parent has no signs or symptoms of the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Jervell and Lange-Nielsen syndrome inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Most often, the parents of a child with an autosomal recessive disorder are not affected, but are carriers of one copy of the mutated gene. Some carriers of a KCNQ1 or KCNE1 mutation have signs and symptoms affecting the heart, but their hearing is usually normal.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Dermatitis Herpetiformis: Skin Manifestation of Celiac Disease (For Health Care Professionals) ?"}, {"role": "assistant", "content": "Dermatitis herpetiformis is caused by the deposit of immunoglobulin A (IgA) in the skin, which triggers further immunologic reactions resulting in lesion formation. DH is an external manifestation of an abnormal immune response to gluten, in which IgA antibodies form against the skin antigen epidermal transglutaminase.\n \nFamily studies show that 5 percent of first-degree relatives of a person with DH will also have DH. An additional 5 percent of first-degree relatives of a person with DH will have celiac disease.4 Various other autoimmune diseases are associated with DH, the most common being hypothyroidism.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Cardiac valvular dysplasia, X-linked ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Cardiac valvular dysplasia, X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Cardiac valvular dysplasia, X-linked. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis - Aortic regurgitation - Congestive heart failure - Mitral regurgitation - Mitral valve prolapse - Short chordae tendineae of the mitral valve - Short chordae tendineae of the tricuspid valve - Tricuspid regurgitation - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Konigsmark Knox Hussels syndrome ?"}, {"role": "assistant", "content": "What causes Konigsmark Knox Hussels syndrome? Konigsmark Knox Hussels syndrome is caused by a particular mutation in the OPA1 gene. In most cases, this condition is caused by a mutation that replaces the amino acid arginine with the amino acid histidine at position 445 in the OPA1 protein. This is written as Arg445His or R445H. It is unclear why the R445H mutation causes both hearing and vision loss in affected individuals.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by Noonan syndrome ?"}, {"role": "assistant", "content": "Noonan syndrome occurs in approximately 1 in 1,000 to 2,500 people.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Pili annulati ?"}, {"role": "assistant", "content": "Pili annulati is a hair disorder. In pili annulati, affected hair has a pattern of light and dark banding. People with pili annulati may describe their hair as \"striped\" or as having silvery beads. Pili annulati typically involves 20-80% of scalp hair, however it can involve facial and body hair as well. Affected hairs may be more prone to breakage. Pili annulati can present in infancy, childhood, or later in life. It can be seen with the naked eye, however it may be more difficult to see in people with dark hair. Diagnosis is confirmed by polariscopic and/or electron microscopic examination of affected hairs. The condition runs in an autosomal dominant fashion in some families. Reduced penetrance and variable expression has been described. Sporadic cases have also been reported.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Alport syndrome inherited ?"}, {"role": "assistant", "content": "How is Alport syndrome inherited? Alport syndrome can have different inheritance patterns. About 80 percent of cases are caused by mutations in the COL4A5 gene and are inherited in an X-linked recessive pattern. This gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the COL4A5 gene in each cell is sufficient to cause kidney failure and other severe symptoms of the disorder. In females (who have two X chromosomes), a mutation in only one copy of the COL4A5 gene usually only results in hematuria, but some women experience more severe symptoms. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Leukemia ?"}, {"role": "assistant", "content": "Standard treatments for leukemia include chemotherapy, biological therapy, radiation therapy, and immunotherapy. Some patients receive a combination of treatments. Learn more about treatments for acute myeloid leukemia. Learn more about treatments for chronic lymphocytic leukemia.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for ARDS ?"}, {"role": "assistant", "content": "ARDS is treated in a hospital's intensive care unit. Current treatment approaches focus on improving blood oxygen levels and providing supportive care. Doctors also will try to pinpoint and treat the underlying cause of the condition.\n \nOxygen Therapy\n \nOne of the main goals of treating ARDS is to provide oxygen to your lungs and other organs (such as your brain and kidneys). Your organs need oxygen to work properly.\n \nOxygen usually is given through nasal prongs or a mask that fits over your mouth and nose. However, if your oxygen level doesn't rise or it's still hard for you to breathe, your doctor will give you oxygen through a breathing tube. He or she will insert the flexible tube through your mouth or nose and into your windpipe.\n \nBefore inserting the tube, your doctor will squirt or spray a liquid medicine into your throat (and possibly your nose) to make it numb. Your doctor also will give you medicine through an intravenous (IV) line in your bloodstream to make you sleepy and relaxed.\n \nThe breathing tube will be connected to a machine that supports breathing (a ventilator). The ventilator will fill your lungs with oxygen-rich air.\n \nYour doctor will adjust the ventilator as needed to help your lungs get the right amount of oxygen. This also will help prevent injury to your lungs from the pressure of the ventilator.\n \nYou'll use the breathing tube and ventilator until you can breathe on your own. If you need a ventilator for more than a few days, your doctor may do a tracheotomy (tra-ke-OT-o-me).\n \nThis procedure involves making a small cut in your neck to create an opening to the windpipe. The opening is called a tracheostomy (TRA-ke-OS-to-me). Your doctor will place the breathing tube directly into the windpipe. The tube is then connected to the ventilator.\n \nFor more information, go to the Health Topics Oxygen Therapy article.\n \nSupportive Care\n \nSupportive care refers to treatments that help relieve symptoms, prevent complications, or improve quality of life. Supportive approaches used to treat ARDS include:\n \nMedicines to help you relax, relieve discomfort, and treat pain.\n \nOngoing monitoring of heart and lung function (including blood pressure and gas exchange).\n \nNutritional support. People who have ARDS often suffer from malnutrition. Thus, extra nutrition may be given through a feeding tube.\n \nTreatment for infections. People who have ARDS are at higher risk for infections, such as pneumonia. Being on a ventilator also increases the risk of infections. Doctors use antibiotics to treat pneumonia and other infections.\n \nPrevention of blood clots. Lying down for long periods can cause blood clots to form in the deep veins of your body. These clots can travel to your lungs and block blood flow (a condition called pulmonary embolism). Blood-thinning medicines and other treatments, such as compression stocking (stockings that create gentle pressure up the leg), are used to prevent blood clots.\n \nPrevention of intestinal bleeding. People who receive long-term support from a ventilator are at increased risk of bleeding in the intestines. Medicines can reduce this risk.\n \nFluids. You may be given fluids to improve blood flow through your body and to provide nutrition. Your doctor will make sure you get the right amount of fluids. Fluids usually are given through an IV line inserted into one of your blood vessels.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) fibrodysplasia ossificans progressiva ?"}, {"role": "assistant", "content": "Fibrodysplasia ossificans progressiva (FOP) is a disorder in which muscle tissue and connective tissue such as tendons and ligaments are gradually replaced by bone (ossified), forming bone outside the skeleton (extra-skeletal or heterotopic bone) that constrains movement. This process generally becomes noticeable in early childhood, starting with the neck and shoulders and proceeding down the body and into the limbs. Extra-skeletal bone formation causes progressive loss of mobility as the joints become affected. Inability to fully open the mouth may cause difficulty in speaking and eating. Over time, people with this disorder may experience malnutrition due to their eating problems. They may also have breathing difficulties as a result of extra bone formation around the rib cage that restricts expansion of the lungs. Any trauma to the muscles of an individual with fibrodysplasia ossificans progressiva, such as a fall or invasive medical procedures, may trigger episodes of muscle swelling and inflammation (myositis) followed by more rapid ossification in the injured area. Flare-ups may also be caused by viral illnesses such as influenza. People with fibrodysplasia ossificans progressiva are generally born with malformed big toes. This abnormality of the big toes is a characteristic feature that helps to distinguish this disorder from other bone and muscle problems. Affected individuals may also have short thumbs and other skeletal abnormalities.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Glioblastoma ?"}, {"role": "assistant", "content": "How might glioblastoma be treated? Unfortunately, there is no cure for glioblastoma. Treatment is palliative and may include surgery, radiation therapy and/or chemotherapy. The best treatment options for each person depend on many factors including the size and location of the tumor; the extent to which the tumor has grown into the surrounding normal brain tissues; and the affected person's age and overall health. Glioblastoma is often treated with surgery initially to remove as much of the tumor as possible. In most cases, it is not possible to remove the entire tumor so additional treatment with radiation therapy and/or chemotherapy is necessary. In elderly people or people in whom surgery is not an option, radiation therapy and/or chemotherapy may be used.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Alzheimer's Disease ?"}, {"role": "assistant", "content": "People with Alzheimer's disease, those with mild cognitive impairment, those with a family history of Alzheimers, and healthy people with no memory problems who want to help scientists test new treatments may be able to take part in clinical trials. Participants in clinical trials help scientists learn about the brain in healthy aging as well as what happens in Alzheimers. Results of these trials are used to improve prevention and treatment methods. To find out more about Alzheimers clinical trials, talk to your health care provider or contact the Alzheimers Disease Education and Referral (ADEAR) Center at 1-800-438-4380. You can search for studies about a certain topic or in a certain geographic area by going to www.nia.nih.gov/alzheimers/clinical-trials.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Familial HDL deficiency ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Familial HDL deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial HDL deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of lipid metabolism 50% Abnormality of the liver 50% Anemia 50% EMG abnormality 50% Hemiplegia/hemiparesis 50% Lymphadenopathy 50% Splenomegaly 50% Autosomal dominant inheritance - Hypoalphalipoproteinemia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is myoclonic epilepsy with ragged-red fibers inherited ?"}, {"role": "assistant", "content": "MERRF is inherited in a mitochondrial pattern, which is also known as maternal inheritance. This pattern of inheritance applies to genes contained in mtDNA. Because egg cells, but not sperm cells, contribute mitochondria to the developing embryo, children can only inherit disorders resulting from mtDNA mutations from their mother. These disorders can appear in every generation of a family and can affect both males and females, but fathers do not pass traits associated with changes in mtDNA to their children. In most cases, people with MERRF inherit an altered mitochondrial gene from their mother, who may or may not show symptoms of the disorder. Less commonly, the disorder results from a new mutation in a mitochondrial gene and occurs in people with no family history of MERRF.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is familial hypobetalipoproteinemia inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an autosomal codominant pattern. Codominance means that copies of the gene from both parents are active (expressed), and both copies influence the genetic trait. In FHBL, a change in one copy of the APOB gene in each cell can cause the condition, but changes in both copies of the gene cause more severe health problems.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Multifocal motor neuropathy ?"}, {"role": "assistant", "content": "What causes multifocal motor neuropathy? The exact underlying cause of multifocal motor neuropathy (MMN) is poorly understood. It is considered an immune-mediated disorder (due to an abnormal immune system response), both because IVIG therapy improves symptoms, and many patients have anti-GM1 antibodies. Research to further understand the cause of MMN is underway.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Deafness, X-linked 2 ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Deafness, X-linked 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Deafness, X-linked 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Conductive hearing impairment - Dilatated internal auditory canal - Progressive sensorineural hearing impairment - Stapes ankylosis - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for moyamoya disease ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of moyamoya disease: - Barrow Neurological Institute: What Medical Therapies Are Used To Treat Moyamoya Disease? - Boston Children's Hospital: Learn More About Treatment for Moyamoya Disease - Genetic Testing Registry: Moyamoya disease - Genetic Testing Registry: Moyamoya disease 2 - Genetic Testing Registry: Moyamoya disease 3 - Genetic Testing Registry: Moyamoya disease 5 - National Institute of Neurological Disorders and Stroke: Moyamoya Disease Information Page These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by sensorineural deafness and male infertility ?"}, {"role": "assistant", "content": "The prevalence of sensorineural deafness and male infertility is unknown.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Dravet syndrome ?"}, {"role": "assistant", "content": "Dravet syndrome is a severe form of epilepsy. The condition appears during the first year of life as frequent fever-related (febrile) seizures. As the condition progresses, other types of seizures typically occur, including myoclonus and status epilepticus. A family history of either epilepsy or febrile seizures exists in 15 percent to 25 percent of cases. Intellectual development begins to deteriorate around age 2, and affected individuals often have a lack of coordination, poor development of language, hyperactivity, and difficulty relating to others. In 30 to 80 percent of cases, Dravet syndrome is caused by changes in the SCN1A gene, which is required for the proper function of brain cells.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to hyperlysinemia ?"}, {"role": "assistant", "content": "Mutations in the AASS gene cause hyperlysinemia. The AASS gene provides instructions for making an enzyme called aminoadipic semialdehyde synthase. This enzyme performs two functions in the breakdown of lysine. First, the enzyme breaks down lysine to a molecule called saccharopine. It then breaks down saccharopine to a molecule called alpha-aminoadipate semialdehyde. Mutations in the AASS gene that impair the breakdown of lysine result in elevated levels of lysine in the blood and urine. These increased levels of lysine do not appear to have any negative effects on the body. When mutations in the AASS gene impair the breakdown of saccharopine, this molecule builds up in blood and urine. This buildup is sometimes referred to as saccharopinuria, which is considered to be a variant of hyperlysinemia. It is unclear if saccharopinuria causes any symptoms.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the complications of Mineral and Bone Disorder in Chronic Kidney Disease ?"}, {"role": "assistant", "content": "The complications of mineral and bone disorder in CKD include slowed bone growth and deformities, and heart and blood vessel problems.\n \nSlowed Bone Growth and Deformities\n \nDamaged kidneys must work harder to clear phosphorus from the body. High levels of phosphorus cause lower levels of calcium in the blood, resulting in the following series of events:\n \n- When a persons blood calcium level becomes too low, the parathyroid glands release parathyroid hormone. - Parathyroid hormone removes calcium from bones and places it into the blood, raising a persons blood calcium level at the risk of harming bones. - A low calcitriol level also leads to an increased level of parathyroid hormone.\n \nIf mineral and bone disorder in CKD remains untreated in adults, bones gradually become thin and weak, and a person with the condition may begin to feel bone and joint pain. Mineral and bone disorder in CKD also increases a persons risk of bone fractures.\n \nHeart and Blood Vessel Problems\n \nIn addition to harming bones, mineral and bone disorder in CKD can cause problems in the heart and blood vessels:\n \n- High levels of blood calcium can damage blood vessels and lead to heart problems. - High phosphorus levels also can cause blood vessels to become like bone, leading to hardening of the arteries. - High phosphorus levels also cause abnormal hormone regulation, even if the calcium level is acceptable.\n \nParathyroid hormone and another hormone made in the bones called FGF23 can also affect bone and heart health, leading to the following series of problems:\n \n- When parathyroid hormone or FGF23 levels are high, a person can have heart problems. - The complex hormone abnormalities that cause bone deformities can also harm a persons heart and blood vessels.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy ?"}, {"role": "assistant", "content": "Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy, commonly known as PLOSL, is a progressive disorder that affects the bones and brain. \"Polycystic lipomembranous osteodysplasia\" refers to cyst-like bone changes that can be seen on x-rays. \"Sclerosing leukoencephalopathy\" describes specific changes in the brain that are found in people with this disorder. The bone abnormalities associated with PLOSL usually become apparent in a person's twenties. In most affected individuals, pain and tenderness in the ankles and feet are the first symptoms of the disease. Several years later, broken bones (fractures) begin to occur frequently, particularly in bones of the ankles, feet, wrists, and hands. Bone pain and fractures are caused by thinning of the bones (osteoporosis) and cyst-like changes. These abnormalities weaken bones and make them more likely to break. The brain abnormalities characteristic of PLOSL typically appear in a person's thirties. Personality changes are among the first noticeable problems, followed by a loss of judgment, feelings of intense happiness (euphoria), a loss of inhibition, and poor concentration. These neurologic changes cause significant problems in an affected person's social and family life. As the disease progresses, it causes a severe decline in thinking and reasoning abilities (dementia). Affected people ultimately become unable to walk, speak, or care for themselves. People with this disease usually live only into their thirties or forties.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Swyer syndrome inherited ?"}, {"role": "assistant", "content": "Most cases of Swyer syndrome are not inherited; they occur in people with no history of the condition in their family. These cases result either from nongenetic causes or from new (de novo) mutations in a gene that occur during the formation of reproductive cells (eggs or sperm) or in early embryonic development. SRY-related Swyer syndrome is usually caused by a new mutation. However, some individuals with Swyer syndrome inherit an altered SRY gene from an unaffected father who is mosaic for the mutation. Mosaic means that an individual has the mutation in some cells (including some reproductive cells) but not in others. In rare cases, a father may carry the mutation in every cell of the body but also has other genetic variations that prevent him from being affected by the condition. Because the SRY gene is on the Y chromosome, Swyer syndrome caused by SRY gene mutations is described as having a Y-linked inheritance pattern. When Swyer syndrome is associated with an MAP3K1 or NR5A1 gene mutation, the condition is also usually caused by a new mutation. In the rare inherited cases, the mutation may be inherited from either parent, since these genes are not on the Y chromosome. In these cases, the condition has an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the condition. Swyer syndrome caused by mutations in the DHH gene is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition are carriers of one copy of the altered gene. Female carriers of a DHH gene mutation generally have typical sex development. Male carriers of a DHH gene mutation may also be unaffected, or they may have genital differences such as the urethra opening on the underside of the penis (hypospadias).", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by spondyloperipheral dysplasia ?"}, {"role": "assistant", "content": "This condition is rare; only a few affected individuals have been reported worldwide.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Juvenile spondyloarthropathy ?"}, {"role": "assistant", "content": "Juvenile spondyloarthropathy refers to a group of rheumatic diseases that develop during childhood and are characterized by inflammation of the entheses (the regions where tendons or ligaments attach to bones) and joints. The joints of the lower extremities are generally affected first followed by the sacroiliac joints (between the pelvis and the spine) and spinal joints some years later. Signs and symptoms may include pain and swelling of the affected entheses and joints that may be misdiagnosed and treated as an injury. The underlying cause of juvenile spondyloarthropathy is currently unknown; however, the condition is strongly associated with HLA-B27. Some cases appear to occur sporadically while other affected people have a family history of arthritis, or other related condition. Treatment varies based on the type of juvenile spondyloarthropathy but may include various medications.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Autoimmune hepatitis ?"}, {"role": "assistant", "content": "How might autoimmune hepatitis be treated? Some people with mild forms of autoimmune hepatitis may not need to take medication. Doctors assess each patient individually to determine whether those with mild autoimmune hepatitis should undergo treatment. Treatment works best when autoimmune hepatitis is diagnosed early. With proper treatment, autoimmune hepatitis can usually be controlled. In fact, studies show that sustained response to treatment stops the disease from getting worse and may reverse some of the damage. The primary treatment is medicine to suppress, or slow down, an overactive immune system. Prednisone or other corticosteroids help reduce the inflammation. Azathioprine and mercaptopurine are drugs used to treat other autoimmune disorders, which have shown to help patients with autoimmune hepatitis as well. In about seven out of 10 people, the disease goes into remission within 3 years of starting treatment. Remission occurs when symptoms disappear and lab tests show improvement in liver function. Some people can eventually stop treatment, although many will see the disease return. People who stop treatment must carefully monitor their condition and promptly report any new symptoms to their doctor. Treatment with low doses of prednisone or azathioprine may be necessary on and off for years, if not for life. People who do not respond to standard immune therapy or who have severe side effects may benefit from other immunosuppressive agents such as mycophenylate mofetil, cyclosporine, or tacrolimus. People who progress to end-stage liver diseasealso called liver failureor cirrhosis may need a liver transplant. Transplantation has a 1-year survival rate of 90 percent and a 5-year survival rate of 70 to 80 percent.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to prevent Overweight and Obesity ?"}, {"role": "assistant", "content": "Following a healthy lifestyle can help you prevent overweight and obesity. Many lifestyle habits begin during childhood. Thus, parents and families should encourage their children to make healthy choices, such as following a healthy diet and being physically active.\n \nMake following a healthy lifestyle a family goal. For example:\n \nFollow a healthy eating plan. Make healthy food choices, keep your calorie needs and your family's calorie needs in mind, and focus on the balance of energy IN and energy OUT.\n \nFocus on portion size. Watch the portion sizes in fast food and other restaurants. The portions served often are enough for two or three people. Children's portion sizes should be smaller than those for adults. Cutting back on portion size will help you balance energy IN and energy OUT.\n \nBe active. Make personal and family time active. Find activities that everyone will enjoy. For example, go for a brisk walk, bike or rollerblade, or train together for a walk or run.\n \nReduce screen time. Limit the use of TVs, computers, DVDs, and videogames because they limit time for physical activity. Health experts recommend 2hours or less a day of screen time that's not work- or homework-related.\n \nKeep track of your weight, body mass index, and waist circumference. Also, keep track of your children's growth.\n \nLed by the National Heart, Lung, and Blood Institute, four Institutes from the National Institutes of Health have come together to promote We Can!Ways to Enhance Children's Activity & Nutrition.\n \nWe Can! is a national education program designed for parents and caregivers to help children 8 to 13 years old maintain a healthy weight. The evidence-based program offers parents and families tips and fun activities to encourage healthy eating, increase physical activity, and reduce time spent being inactive.\n \nCurrently, more than 140 community groups around the country are participating in We Can! programs for parents and youth. These community groups include hospitals, health departments, clinics, faith-based organizations, YMCAs, schools, and more.\n \n____________\n \nWe Can! is a registered trademark of the U.S. Department of Health and Human Services.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to congenital hemidysplasia with ichthyosiform erythroderma and limb defects ?"}, {"role": "assistant", "content": "Mutations in the NSDHL gene cause CHILD syndrome. This gene provides instructions for making an enzyme that is involved in the production of cholesterol. Cholesterol is a type of fat that is produced in the body and obtained from foods that come from animals, particularly egg yolks, meat, fish, and dairy products. Although high cholesterol levels are a well-known risk factor for heart disease, the body needs some cholesterol to develop and function normally both before and after birth. Cholesterol is an important component of cell membranes and the protective substance covering nerve cells (myelin). Additionally, cholesterol plays a role in the production of certain hormones and digestive acids. The mutations that underlie CHILD syndrome eliminate the activity of the NSDHL enzyme, which disrupts the normal production of cholesterol within cells. A shortage of this enzyme may also allow potentially toxic byproducts of cholesterol production to build up in the body's tissues. Researchers suspect that low cholesterol levels and/or an accumulation of other substances disrupt the growth and development of many parts of the body. It is not known, however, how a disturbance in cholesterol production leads to the specific features of CHILD syndrome.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Floating-Harbor syndrome ?"}, {"role": "assistant", "content": "What causes Floating-Harbor syndrome? The exact cause of Floating-Harbor syndrome is not known. Autosomal dominant inheritance has been suggested.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Coma ?"}, {"role": "assistant", "content": "A coma is a deep state of unconsciousness. An individual in a coma is alive but unable to move or respond to his or her environment. Coma may occur as a complication of an underlying illness, or as a result of injuries, such as brain injury. A coma rarely lasts more than 2 to 4 weeks. The outcome for coma depends on the cause, severity, and site of the damage. People may come out of a coma with physical, intellectual, and psychological problems. Some people may remain in a coma for years or even decades. For those people, the most common cause of death is infection, such as pneumonia. NIH: National Institute of Neurological Disorders and Stroke", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for factor X deficiency ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of factor X deficiency: - Genetic Testing Registry: Factor X deficiency - MedlinePlus Encyclopedia: Factor X Assay These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Breast Cancer ?"}, {"role": "assistant", "content": "There are many treatment options for women with breast cancer. The choice of treatment depends on your age and general health, the stage of the cancer, whether or not it has spread beyond the breast, and other factors. If tests show that you have cancer, you should talk with your doctor and make treatment decisions as soon as possible. Studies show that early treatment leads to better outcomes. Working With a Team of Specialists People with cancer often are treated by a team of specialists. The team will keep the primary doctor informed about the patient's progress. The team may include a medical oncologist who is a specialist in cancer treatment, a surgeon, a radiation oncologist who is a specialist in radiation therapy, and others. Before starting treatment, you may want another doctor to review the diagnosis and treatment plan. Some insurance companies require a second opinion. Others may pay for a second opinion if you request it. (Watch the video about this breast cancer survivor's treatment. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.) Clinical Trials for Breast Cancer Some breast cancer patients take part in studies of new treatments. These studies, called clinical trials, are designed to find out whether a new treatment is both safe and effective. Often, clinical trials compare a new treatment with a standard one so that doctors can learn which is more effective. Women with breast cancer who are interested in taking part in a clinical trial should talk to their doctor. The U.S. National Institutes of Health, through its National Library of Medicine and other Institutes, maintains a database of clinical trials at ClinicalTrials.gov. See a list of the current clinical trials on breast cancer.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to transthyretin amyloidosis ?"}, {"role": "assistant", "content": "Mutations in the TTR gene cause transthyretin amyloidosis. The TTR gene provides instructions for producing a protein called transthyretin. Transthyretin transports vitamin A (retinol) and a hormone called thyroxine throughout the body. To transport retinol and thyroxine, four transthyretin proteins must be attached (bound) to each other to form a four-protein unit (tetramer). Transthyretin is produced primarily in the liver. A small amount of this protein is produced in an area of the brain called the choroid plexus and in the light-sensitive tissue that lines the back of the eye (the retina). TTR gene mutations are thought to alter the structure of transthyretin, impairing its ability to bind to other transthyretin proteins and altering its normal function.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the complications of Crohn's Disease ?"}, {"role": "assistant", "content": "Complications of Crohn's disease can include\n \n- bowel obstruction. Crohn's disease can thicken the wall of the intestine. Over time, the thickened areas of the intestine can narrow, which can block the intestine. A partial or complete obstruction, also called a bowel blockage, can block the movement of food or stool through the intestines. A complete bowel obstruction is life threatening and requires immediate medical attention and often surgery. - fistulasabnormal passages, or tunnels, between two organs, or between an organ and the outside of the body. How a health care provider treats fistulas depends on their type and severity. For some people, fistulas heal with medication and diet changes, while other people will need to have surgery. - anal fissuressmall tears in the anus that may cause itching, pain, or bleeding. Most anal fissures heal with medical treatment, including ointments, warm baths, and dietary changes. - ulcers. Inflammation anywhere along the GI tract can lead to ulcers or open sores in a person's mouth, intestines, anus, and perineumthe area between the anus and the sex organs. In most cases, the treatment a health care provider prescribes for Crohn's disease will also treat the ulcers. - malnutritiona condition that develops when the body does not get the right amount of vitamins, minerals, and nutrients it needs to maintain healthy tissues and organ function. Some people may need IV fluids or feeding tubes to replace lost nutrients and fluids. - inflammation in other areas of the body. The immune system can trigger inflammation in the - joints - eyes - skin\n \nHealth care providers can treat inflammation by adjusting medications or prescribing new medications.\n \n\n \nCrohn's Disease and Colon Cancer People with Crohn's disease in the large intestine may be more likely to develop colon cancer. People who receive ongoing treatment and remain in remission may reduce their chances of developing colon cancer. People with Crohn's disease should talk with their health care provider about how often they should get screened for colon cancer. Screening can include colonoscopy with biopsies. Such screening does not reduce a person's chances of developing colon cancer. Instead, screening can help diagnose cancer early and improve chances for recovery.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Osteogenesis imperfecta Levin type ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Osteogenesis imperfecta Levin type? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteogenesis imperfecta Levin type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal cortical bone morphology 90% Abnormality of the mandible 90% Bowing of the long bones 90% Advanced eruption of teeth 50% Osteomyelitis 50% Reduced bone mineral density 50% Recurrent fractures 7.5% Scoliosis 7.5% Autosomal dominant inheritance - Diaphyseal cortical sclerosis - Increased susceptibility to fractures - Osteopenia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "what research (or clinical trials) is being done for Leigh's Disease ?"}, {"role": "assistant", "content": "The NINDS supports and encourages a broad range of basic and clinical research on neurogenetic disorders such as Leigh's disease. The goal of this research is to understand what causes these disorders and then to apply these findings to new ways to diagnose, treat, and prevent them.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) neuromyelitis optica ?"}, {"role": "assistant", "content": "Neuromyelitis optica is an autoimmune disorder that affects the nerves of the eyes and the central nervous system, which includes the brain and spinal cord. Autoimmune disorders occur when the immune system malfunctions and attacks the body's own tissues and organs. In neuromyelitis optica, the autoimmune attack causes inflammation of the nerves, and the resulting damage leads to the signs and symptoms of the condition. Neuromyelitis optica is characterized by optic neuritis, which is inflammation of the nerve that carries information from the eye to the brain (optic nerve). Optic neuritis causes eye pain and vision loss, which can occur in one or both eyes. Neuromyelitis optica is also characterized by transverse myelitis, which is inflammation of the spinal cord. The inflammation associated with transverse myelitis damages the spinal cord, causing a lesion that often extends the length of three or more bones of the spine (vertebrae). In addition, myelin, which is the covering that protects nerves and promotes the efficient transmission of nerve impulses, can be damaged. Transverse myelitis causes weakness, numbness, and paralysis of the arms and legs. Other effects of spinal cord damage can include disturbances in sensations, loss of bladder and bowel control, uncontrollable hiccupping, and nausea. In addition, muscle weakness may make breathing difficult and can cause life-threatening respiratory failure in people with neuromyelitis optica. There are two forms of neuromyelitis optica, the relapsing form and the monophasic form. The relapsing form is most common. This form is characterized by recurrent episodes of optic neuritis and transverse myelitis. These episodes can be months or years apart, and there is usually partial recovery between episodes. However, most affected individuals eventually develop permanent muscle weakness and vision impairment that persist even between episodes. For unknown reasons, approximately nine times more women than men have the relapsing form. The monophasic form, which is less common, causes a single episode of neuromyelitis optica that can last several months. People with this form of the condition can also have lasting muscle weakness or paralysis and vision loss. This form affects men and women equally. The onset of either form of neuromyelitis optica can occur anytime from childhood to adulthood, although the condition most frequently begins in a person's forties. Approximately one-quarter of individuals with neuromyelitis optica have signs or symptoms of another autoimmune disorder such as myasthenia gravis, systemic lupus erythematosus, or Sjgren syndrome. Some scientists believe that a condition described in Japanese patients as optic-spinal multiple sclerosis (or opticospinal multiple sclerosis) that affects the nerves of the eyes and central nervous system is the same as neuromyelitis optica.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Scholte syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Scholte syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Scholte syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair quantity 90% Abnormality of the genital system 90% Blepharophimosis 90% Broad forehead 90% Cognitive impairment 90% Decreased body weight 90% Deeply set eye 90% High forehead 90% Midline defect of the nose 90% Muscular hypotonia 90% Short foot 90% Short palm 90% Short philtrum 90% Skeletal muscle atrophy 90% Thin vermilion border 90% Abnormality of calvarial morphology 50% Abnormality of the antihelix 50% Abnormality of the palate 50% Delayed eruption of teeth 50% Epicanthus 50% Hyperlordosis 50% Joint hypermobility 50% Kyphosis 50% Limitation of joint mobility 50% Neurological speech impairment 50% Patellar aplasia 50% Patellar dislocation 50% Pes cavus 50% Sandal gap 50% Seizures 50% Short nose 50% Toe syndactyly 50% Truncal obesity 50% Upslanted palpebral fissure 50% Wide mouth 50% Abnormal facial shape - Abnormal joint morphology - Autosomal dominant inheritance - Early balding - Hypogonadism - Intellectual disability - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Herpes zoster oticus ?"}, {"role": "assistant", "content": "How might herpes zoster oticus be treated? Treatment for herpes zoster oticus typically includes anti-inflammatory drugs called steroids, which may reduce the inflammation of the nerves and help to ease the pain. Antiviral medications are usually prescribed, although whether antiviral medications are beneficial for treating this condition has not been confirmed. Strong pain medications may be prescribed if the pain continues. An eye patch may be recommended to prevent injury to the cornea (corneal abrasion) and damage to the eye if it does not close completely. Vertigo (feeling that the room is spinning) and dizziness may be treated with other medications.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to persistent Mllerian duct syndrome ?"}, {"role": "assistant", "content": "Most people with persistent Mllerian duct syndrome have mutations in the AMH gene or the AMHR2 gene. The AMH gene provides instructions for making a protein called anti-Mllerian hormone (AMH). The AMHR2 gene provides instructions for making a protein called AMH receptor type 2. The AMH protein and AMH receptor type 2 protein are involved in male sex differentiation. All fetuses develop the Mllerian duct, the precursor to female reproductive organs. During development of a male fetus, these two proteins work together to induce breakdown (regression) of the Mllerian duct. Mutations in the AMH and AMHR2 genes lead to nonfunctional proteins that cannot signal for regression of the Mllerian duct. As a result of these mutations, the Mllerian duct persists and goes on to form a uterus and fallopian tubes. Approximately 45 percent of cases of persistent Mllerian duct syndrome are caused by mutations in the AMH gene and are called persistent Mllerian duct syndrome type 1. Approximately 40 percent of cases are caused by mutations in the AMHR2 gene and are called persistent Mllerian duct syndrome type 2. In the remaining 15 percent of cases, no mutations in the AMH and AMHR2 genes have been identified, and the genes involved in causing the condition are unknown.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Rubinstein-Taybi syndrome inherited ?"}, {"role": "assistant", "content": "This condition is considered to have an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases result from new mutations in the gene and occur in people with no history of the disorder in their family.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Who is at risk for Mitral Valve Prolapse? ?"}, {"role": "assistant", "content": "Mitral valve prolapse (MVP) affects people of all ages and both sexes; however, aging raises the risk of developing the disease.\n \nCertain conditions have been associated with MVP, including:\n \nA history of rheumatic fever\n \nConnective tissue disorders, such as Marfan syndrome or Ehlers-Danlos syndrome\n \nGraves disease\n \nScoliosis and other skeletal problems\n \nSome types of muscular dystrophy", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Chromosome 5q deletion ?"}, {"role": "assistant", "content": "Chromosome 5q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 5. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 5q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is arrhythmogenic right ventricular cardiomyopathy inherited ?"}, {"role": "assistant", "content": "Up to half of all cases of ARVC appear to run in families. Most familial cases of the disease have an autosomal dominant pattern of inheritance, which means one copy of an altered gene in each cell is sufficient to cause the disorder. Rarely, ARVC has an autosomal recessive pattern of inheritance, which means both copies of a gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Fuhrmann syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Fuhrmann syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Fuhrmann syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the fibula 90% Adactyly 90% Aplasia/Hypoplasia of the fibula 90% Aplasia/Hypoplasia of the ulna 90% Femoral bowing 90% Hypoplasia of the radius 90% Radial bowing 90% Short stature 90% Talipes 90% Tarsal synostosis 90% Aplasia/Hypoplasia of the 5th finger 75% Aplasia/hypoplasia of the femur 75% Congenital hip dislocation 75% Hypoplastic iliac wing 75% Hypoplastic pelvis 75% Oligodactyly (feet) 75% Patellar aplasia 75% Abnormal finger flexion creases 50% Abnormality of the femur 50% Abnormality of the fingernails 50% Abnormality of the hip bone 50% Abnormality of the metacarpal bones 50% Anonychia 50% Bowing of the long bones 50% Clinodactyly of the 5th finger 50% Hypoplastic toenails 50% Postaxial hand polydactyly 50% Sacrococcygeal pilonidal abnormality 50% Single transverse palmar crease 50% Symphalangism affecting the phalanges of the hand 50% Ulnar deviation of finger 50% Aplasia/Hypoplasia involving the metacarpal bones 33% Aplasia/Hypoplasia of metatarsal bones 33% Oligodactyly (hands) 33% Talipes equinovarus 33% Toe syndactyly 33% Finger syndactyly 7.5% Low-set, posteriorly rotated ears 7.5% Macrotia 7.5% Short distal phalanx of finger 7.5% Split hand 7.5% Absent toenail - Amenorrhea - Aplasia/Hypoplasia of the phalanges of the hand - Autosomal recessive inheritance - Fibular aplasia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by Sotos syndrome ?"}, {"role": "assistant", "content": "Sotos syndrome is reported to occur in 1 in 10,000 to 14,000 newborns. Because many of the features of Sotos syndrome can be attributed to other conditions, many cases of this disorder are likely not properly diagnosed, so the true incidence may be closer to 1 in 5,000.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Acquired Cystic Kidney Disease ?"}, {"role": "assistant", "content": "A health care provider may diagnose a person with acquired cystic kidney disease based on\n \n- medical history - imaging tests\n \nMedical History\n \nTaking a medical history may help a health care provider diagnose acquired cystic kidney disease. A health care provider may suspect acquired cystic kidney disease if a person who has been on dialysis for several years develops symptoms such as fever, back pain, or blood in the urine.\n \nImaging Tests\n \nTo confirm the diagnosis, the health care provider may order one or more imaging tests. A radiologista doctor who specializes in medical imaginginterprets the images from these tests, and the patient does not need anesthesia.\n \n- Ultrasound uses a device, called a transducer, that bounces safe, painless sound waves off organs to create an image of their structure. A specially trained technician performs the procedure in a health care provider's office, an outpatient center, or a hospital. The images can show cysts in the kidneys as well as the kidneys' size and shape. - Computerized tomography (CT) scans use a combination of x rays and computer technology to create images. For a CT scan, a nurse or technician may give the patient a solution to drink and an injection of a special dye, called contrast medium. CT scans require the patient to lie on a table that slides into a tunnel-shaped device where an x-ray technician takes the x-rays. An x-ray technician performs the procedure in an outpatient center or a hospital. CT scans can show cysts and tumors in the kidneys. - Magnetic resonance imaging (MRI) is a test that takes pictures of the body's internal organs and soft tissues without using x-rays. A specially trained technician performs the procedure in an outpatient center or a hospital. Although the patient does not need anesthesia, a health care provider may give people with a fear of confined spaces light sedation, taken by mouth. An MRI may include the injection of contrast medium. With most MRI machines, the patient will lie on a table that slides into a tunnel-shaped device that may be open-ended or closed at one end. Some machines allow the patient to lie in a more open space. During an MRI, the patient, although usually awake, must remain perfectly still while the technician takes the images, which usually takes only a few minutes. The technician will take a sequence of images from different angles to create a detailed picture of the kidneys. During the test, the patient will hear loud mechanical knocking and humming noises from the machine.\n \nSometimes a health care provider may discover acquired cystic kidney disease during an imaging exam for another condition. Images of the kidneys may help the health care provider distinguish acquired cystic kidney disease from PKD.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Foodborne Illnesses ?"}, {"role": "assistant", "content": "Foodborne illnesses are infections or irritations of the gastrointestinal (GI) tract caused by food or beverages that contain harmful bacteria, parasites, viruses, or chemicals. The GI tract is a series of hollow organs joined in a long, twisting tube from the mouth to the anus. Common symptoms of foodborne illnesses include vomiting, diarrhea, abdominal pain, fever, and chills.\n \nMost foodborne illnesses are acute, meaning they happen suddenly and last a short time, and most people recover on their own without treatment. Rarely, foodborne illnesses may lead to more serious complications. Each year, an estimated 48 million people in the United States experience a foodborne illness. Foodborne illnesses cause about 3,000 deaths in the United States annually.1", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Familial prostate cancer ?"}, {"role": "assistant", "content": "Familial prostate cancer is a cluster of prostate cancer within a family. Most cases of prostate cancer occur sporadically in people with no family history of the condition. However, approximately 5% to 10% of prostate cancer cases are believed to be primarily caused by a genetic predisposition to the condition. In many families, the underlying genetic cause is unknown; however, some of these cases are caused by changes (mutations) in the BRCA1, BRCA2, HOXB13, or several other genes. Other cases are likely due to a combination of gene(s) and other shared factors such as environment and lifestyle. High-risk cancer screening at an earlier age is typically recommended in men who have an increased risk for prostate cancer based on personal and/or family histories.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "what research (or clinical trials) is being done for Tardive Dyskinesia ?"}, {"role": "assistant", "content": "The NINDS conducts and supports a broad range of research on movement disorders including tardive dyskinesia. The goals of this research are to improve understanding of these disorders and to discover ways to treat, prevent, and, ultimately, cure them.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to tetra-amelia syndrome ?"}, {"role": "assistant", "content": "Researchers have found a mutation in the WNT3 gene in people with tetra-amelia syndrome from one large family. This gene is part of a family of WNT genes that play critical roles in development before birth. The protein produced from the WNT3 gene is involved in the formation of the limbs and other body systems during embryonic development. Mutations in the WNT3 gene prevent cells from producing functional WNT3 protein, which disrupts normal limb formation and leads to the other serious birth defects associated with tetra-amelia syndrome. In other affected families, the cause of tetra-amelia syndrome has not been determined. Researchers believe that unidentified mutations in WNT3 or other genes involved in limb development are probably responsible for the disorder in these cases.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Periventricular heterotopia ?"}, {"role": "assistant", "content": "How might periventricular nodular heterotopia be treated? Treatment of epilepsy generally follows principles for a seizure disorder caused by a known structural brain abnormality; carbamezipine is most often used, because most patients have focal seizures. However, antiepileptic drugs may be selected based on side effects, tolerability, and efficacy. It is recommended that patients with the X-linked form of the disease have studies evaluating the carotid artery and an abdominal ultrasound because of the risk for aortic or carotid dissection or other vascular anomalies.[1823] Treatment also include surgery for removal of the lesion and more recently, laser ablation guided with magnetic resonance.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) GRACILE syndrome ?"}, {"role": "assistant", "content": "GRACILE syndrome is a severe disorder that begins before birth. GRACILE stands for the condition's characteristic features: growth retardation, aminoaciduria, cholestasis, iron overload, lactic acidosis, and early death. In GRACILE syndrome, growth before birth is slow (intrauterine growth retardation). Affected newborns are smaller than average and have an inability to grow and gain weight at the expected rate (failure to thrive). A characteristic of GRACILE syndrome is excess iron in the liver, which likely begins before birth. Iron levels may begin to improve after birth, although they typically remain elevated. Within the first day of life, infants with GRACILE syndrome have a buildup of a chemical called lactic acid in the body (lactic acidosis). They also have kidney problems that lead to an excess of molecules called amino acids in the urine (aminoaciduria). Babies with GRACILE syndrome have cholestasis, which is a reduced ability to produce and release a digestive fluid called bile. Cholestasis leads to irreversible liver disease (cirrhosis) in the first few months of life. Because of the severe health problems caused by GRACILE syndrome, infants with this condition do not survive for more than a few months, and about half die within a few days of birth.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) TK2-related mitochondrial DNA depletion syndrome, myopathic form ?"}, {"role": "assistant", "content": "TK2-related mitochondrial DNA depletion syndrome, myopathic form (TK2-MDS) is an inherited condition that causes progressive muscle weakness (myopathy). The signs and symptoms of TK2-MDS typically begin in early childhood. Development is usually normal early in life, but as muscle weakness progresses, people with TK2-MDS lose motor skills such as standing, walking, eating, and talking. Some affected individuals have increasing weakness in the muscles that control eye movement, leading to droopy eyelids (progressive external ophthalmoplegia). Most often in TK2-MDS, the muscles are the only affected tissues; however, the liver may be enlarged (hepatomegaly), seizures can occur, and hearing loss caused by nerve damage in the inner ear (sensorineural hearing loss) may be present. Intelligence is usually not affected. As the disorder worsens, the muscles that control breathing become weakened and affected individuals frequently have to rely on mechanical ventilation. Respiratory failure is the most common cause of death in people with TK2-MDS, often occurring in childhood. Rarely, the disorder progresses slowly and affected individuals survive into adolescence or adulthood.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to prevent Fanconi Anemia ?"}, {"role": "assistant", "content": "ou can't prevent Fanconi anemia (FA) because it's an inherited disease. If a child gets two copies of the same faulty FA gene, he or she will have the disease.\n \nIf you're at high risk for FA and are planning to have children, you may want to consider genetic counseling. A counselor can help you understand your risk of having a child who has FA. He or she also can explain the choices that are available to you.\n \nIf you're already pregnant, genetic testing can show whether your child has FA. For more information on genetic testing, go to \"How Is Fanconi Anemia Diagnosed?\"\n \nIn the United States, Ashkenazi Jews (Jews of Eastern European descent) are at higher risk for FA than other ethnic groups. For Ashkenazi Jews, it's recommended that prospective parents get tested for FA-related gene mutations before getting pregnant.\n \nPreventing Complications\n \nIf you or your child has FA, you can prevent some health problems related to the disorder. Pneumonia, hepatitis, and chicken pox can occur more often and more severely in people who have FA compared with those who don't. Ask your doctor about vaccines for these conditions.\n \nPeople who have FA also are at higher risk than other people for some cancers. These cancers include leukemia (a type of blood cancer), myelodysplastic syndrome (abnormal levels of all three types of blood cells), and liver cancer. Screening and early detection can help manage these life-threatening diseases.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Parasites - Taeniasis ?"}, {"role": "assistant", "content": "Diagnosis of Taenia tapeworm infections is made by examination of stool samples; individuals should also be asked if they have passed tapeworm segments. Stool specimens should be collected on three different days and examined in the lab for Taenia eggs using a microscope. Tapeworm eggs can be detected in the stool 2 to 3 months after the tapeworm infection is established.\n \nTapeworm eggs of T. solium can also infect humans, causing cysticercosis. It is important to diagnose and treat all tapeworm infections.\n \nMore on: cysticercosis", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Primary Familial Brain Calcification ?"}, {"role": "assistant", "content": "How might primary familial brain calcification (PFBC) be treated? There is no standard course of treatment for PFBC. Treatment typically addresses symptoms on an individual basis. Medications may be used to improve anxiety, depression, obsessive-compulsive behaviors, and dystonia. Antiepileptic drugs (AEDs) can be prescribed for seizures. Oxybutynin may be prescribed for urinary incontinence (loss of bladder control). Surveillance typically includes yearly neurologic and neuropsychiatric assessments.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) X-linked congenital stationary night blindness ?"}, {"role": "assistant", "content": "X-linked congenital stationary night blindness (XLCSNB) is a disorder of the retina. People with this condition typically experience night blindness and other vision problems, including loss of sharpness (reduced visual acuity), severe nearsightedness (myopia), nystagmus, and strabismus. Color vision is typically not affected. These vision problems are usually evident at birth, but tend to be stable (stationary) over time. There are two major types of XLCSNB: the complete form and the incomplete form. Both types have very similar signs and symptoms. However, everyone with the complete form has night blindness, while not all people with the incomplete form have night blindness. The types are distinguished by their genetic cause.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by platyspondylic lethal skeletal dysplasia, Torrance type ?"}, {"role": "assistant", "content": "This condition is very rare; only a few affected individuals have been reported worldwide.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Factor XIII deficiency ?"}, {"role": "assistant", "content": "How might factor XIII be treated? The amount of Factor XIII necessary for a normal response to trauma is only about 10 percent of that in the normal plasma. People with Factor XIII deficiency are generally given small infusions of fresh or frozen blood plasma (cryoprecipitates), or Factor XIII concentrates every three or four weeks. This has proven to be a highly successful preventive treatment for the disorder. Patients typically have a normal response to trauma while on these transfusions. When patients with Factor XIII deficiency have a high incidence of bleeding inside the head (intracranial), preventive treatment is necessary. In February 2011, the US Food and Drug Administration approved Corifact, a product manufactured by CSL Behring of Marburg, Germany, to prevent bleeding in people with congenital Factor XIII deficiency. Corifact is made from the pooled plasma of healthy donors. It can be used for individuals with absent or decreased levels of FXIII. People receiving Corifact may develop antibodies against Factor XIII that may make the product ineffective. It potentially can cause adverse events from abnormal clotting if doses higher than the labeled dose are given to patients. Cryoprecipitate should not be used to treat patients with factor XIII deficiency except in life- and limb-threatening emergencies when Factor XIII concentrate is not immediately available.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) branchiootorenal/branchiootic syndrome ?"}, {"role": "assistant", "content": "Branchiootorenal (BOR) syndrome is a condition that disrupts the development of tissues in the neck and causes malformations of the ears and kidneys. The signs and symptoms of this condition vary widely, even among members of the same family. Branchiootic (BO) syndrome includes many of the same features as BOR syndrome, but affected individuals do not have kidney abnormalities. The two conditions are otherwise so similar that researchers often consider them together (BOR/BO syndrome or branchiootorenal spectrum disorders). \"Branchio-\" refers to the second branchial arch, which is a structure in the developing embryo that gives rise to tissues in the front and side of the neck. In people with BOR/BO syndrome, abnormal development of the second branchial arch can result in the formation of masses in the neck called branchial cleft cysts. Some affected people have abnormal holes or pits called fistulae in the side of the neck just above the collarbone. Fistulae can form tunnels into the neck, exiting in the mouth near the tonsil. Branchial cleft cysts and fistulae can cause health problems if they become infected, so they are often removed surgically. \"Oto-\" and \"-otic\" refer to the ear; most people with BOR/BO syndrome have hearing loss and other ear abnormalities. The hearing loss can be sensorineural, meaning it is caused by abnormalities in the inner ear; conductive, meaning it results from changes in the small bones in the middle ear; or mixed, meaning it is caused by a combination of inner ear and middle ear abnormalities. Some affected people have tiny holes in the skin or extra bits of tissue just in front of the ear. These are called preauricular pits and preauricular tags, respectively. \"Renal\" refers to the kidneys; BOR syndrome (but not BO syndrome) causes abnormalities of kidney structure and function. These abnormalities range from mild to severe and can affect one or both kidneys. In some cases, end-stage renal disease (ESRD) develops later in life. This serious condition occurs when the kidneys become unable to filter fluids and waste products from the body effectively.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Do you have information about Foot Health"}, {"role": "assistant", "content": "Summary : Each step you take involves a complex network of bones, muscles, tendons, and ligaments. This, combined with all of the weight they carry, explains why feet can have problems. To keep your feet healthy - Examine your feet regularly - Wear comfortable shoes that fit - Wash your feet daily with soap and lukewarm water - Trim your toenails straight across and not too short Your foot health can be a clue to your overall health. For example, joint stiffness could mean arthritis. Tingling or numbness could be a sign of diabetes. Swelling might indicate kidney disease, heart disease, or high blood pressure. Good foot care and regular foot checks are an important part of your health care. If you have foot problems, be sure to talk to your doctor. NIH: National Institute on Aging", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to hereditary folate malabsorption ?"}, {"role": "assistant", "content": "The SLC46A1 gene provides instructions for making a protein called the proton-coupled folate transporter (PCFT). PCFT is important for normal functioning of intestinal epithelial cells, which are cells that line the walls of the intestine. These cells have fingerlike projections called microvilli that absorb nutrients from food as it passes through the intestine. Based on their appearance, groups of these microvilli are known collectively as the brush border. PCFT is involved in the process of using energy to move folates across the brush border membrane, a mechanism called active transport. It is also involved in the transport of folates between the brain and the fluid that surrounds it (cerebrospinal fluid). Mutations in the SLC46A1 gene result in a PCFT protein that has little or no activity. In some cases the mutated protein is not transported to the cell membrane, and so it is unable to perform its function. A lack of functional PCFT impairs the body's ability to absorb folates from food, resulting in the signs and symptoms of hereditary folate malabsorption.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Alagille Syndrome ?"}, {"role": "assistant", "content": "Alagille syndrome is a genetic condition that results in various symptoms in different parts of the body, including the liver. A person with Alagille syndrome has fewer than the normal number of small bile ducts inside the liver. The liver is the organ in the abdomenthe area between the chest and hipsthat makes blood proteins and bile, stores energy and nutrients, fights infection, and removes harmful chemicals from the blood.\n \nBile ducts are tubes that carry bile from the liver cells to the gallbladder for storage and to the small intestine for use in digestion. Bile is fluid made by the liver that carries toxins and waste products out of the body and helps the body digest fats and the fat-soluble vitamins A, D, E, and K. In people with Alagille syndrome, the decreased number of bile ducts causes bile to build up in the liver, a condition also called cholestasis, leading to liver damage and liver disease.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Multiple pterygium syndrome lethal type ?"}, {"role": "assistant", "content": "Multiple pterygium syndrome lethal type is a very rare genetic condition affecting the skin, muscles and skeleton. It is characterized by minor facial abnormalities, prenatal growth deficiency, spine defects, joint contractures, and webbing (pterygia) of the neck, elbows, back of the knees, armpits, and fingers. Fetuses with this condition are usually not born. Some of the prenatal complications include cystic hygroma, hydrops, diaphragmatic hernia, polyhydramnios, underdevelopment of the heart and lungs, microcephaly, bone fusions, joint dislocations, spinal fusion, and bone fractures. Both X-linked and autosomal recessive inheritance have been proposed. Mutations in the CHRNG, CHRNA1, and CHRND genes have been found to cause this condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Pallister-Killian mosaic syndrome ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of Pallister-Killian mosaic syndrome: - Genetic Testing Registry: Pallister-Killian syndrome - MedlinePlus Encyclopedia: Chromosome - MedlinePlus Encyclopedia: Mosaicism These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Diabetes ?"}, {"role": "assistant", "content": "Type 1 diabetes, which used to be called called juvenile diabetes or insulin-dependent diabetes, develops most often in young people. However, type 1 diabetes can also develop in adults. With this form of diabetes, your body no longer makes insulin or doesnt make enough insulin because your immune system has attacked and destroyed the insulin-producing cells. About 5 to 10 percent of people with diabetes have type 1 diabetes. To survive, people with type 1 diabetes must have insulin delivered by injection or a pump. Learn more about type 1 diabetes here. Learn more about type 1 diabetes here. Type 2 diabetes, which used to be called adult-onset diabetes or non insulin-dependent diabetes, is the most common form of diabetes. Although people can develop type 2 diabetes at any age -- even during childhood -- type 2 diabetes develops most often in middle-aged and older people. Type 2 diabetes usually begins with insulin resistancea condition that occurs when fat, muscle, and liver cells do not use insulin to carry glucose into the bodys cells to use for energy. As a result, the body needs more insulin to help glucose enter cells. At first, the pancreas keeps up with the added demand by making more insulin. Over time, the pancreas doesnt make enough insulin when blood sugar levels increase, such as after meals. If your pancreas can no longer make enough insulin, you will need to treat your type 2 diabetes. Learn more about type 2 diabetes here.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes What I need to know about Erectile Dysfunction ?"}, {"role": "assistant", "content": "Erectile dysfunction often has more than one cause. Many diseases can damage nerves, arteries, and muscles. Some can lead to ED, such as\n \n- high blood pressure - diabetes, when your blood glucose, also called blood sugar, is too high - clogged arteries - heart and blood vessel disease - chronic kidney disease - multiple sclerosis, a disease that attacks the nerves - treatments for prostate cancer, including radiation, surgery to remove the prostate, and hormone treatments - injury to the penis, spinal cord, prostate, bladder, or pelvis - surgery for bladder cancer - Peyronies disease, in which scar tissue, called a plaque, forms in the penis\n \nUnhealthy lifestyle choices, such as smoking, drinking too much alcohol, using illegal drugs, being overweight, and not exercising, can lead to ED.\n \nMental health problems such as the following can also cause or worsen ED:\n \n- depression - fear of sexual failure - guilt - low self-esteem - stress - worry\n \nEven when ED has a physical cause, mental health problems can make ED worse. For example, a physical problem may slow your sexual arousal, which may make you more nervous and worsen your ED.\n \nIn addition, ED can be a side effect of many common medicines. A small number of ED cases result from low testosterone, a male hormone.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to familial isolated pituitary adenoma ?"}, {"role": "assistant", "content": "FIPA can be caused by mutations in the AIP gene. The function of the protein produced from this gene is not well understood, but it is thought to act as a tumor suppressor, which means it helps prevent cells from growing and dividing in an uncontrolled way. Mutations in the AIP gene alter the protein or reduce the production of functional protein. These changes likely impair the ability of the AIP protein to control the growth and division of cells, allowing pituitary cells to grow and divide unchecked and form a tumor. It is not known why the pituitary gland is specifically affected or why certain types of pituitary adenomas develop. AIP gene mutations account for approximately 15 to 25 percent of cases of FIPA. Somatotropinomas are the most common type of tumor in these individuals. The tumors usually occur at a younger age, often in childhood, and are larger than FIPA tumors not caused by AIP gene mutations. The other genetic causes of FIPA are unknown.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Lyme Disease ?"}, {"role": "assistant", "content": "Lyme disease is a bacterial infection you get from the bite of an infected tick. The first symptom is usually a rash, which may look like a bull's eye. As the infection spreads, you may have - A fever - A headache - Muscle and joint aches - A stiff neck - Fatigue Lyme disease can be hard to diagnose because you may not have noticed a tick bite. Also, many of its symptoms are like those of the flu and other diseases. In the early stages, your health care provider will look at your symptoms and medical history, to figure out whether you have Lyme disease. Lab tests may help at this stage, but may not always give a clear answer. In the later stages of the disease, a different lab test can confirm whether you have it. Antibiotics can cure most cases of Lyme disease. The sooner treatment begins, the quicker and more complete the recovery. After treatment, some patients may still have muscle or joint aches and nervous system symptoms. This is called post-Lyme disease syndrome (PLDS). Long-term antibiotics have not been shown to help with PLDS. However, there are ways to help with the symptoms of PLDS, and most patients do get better with time. NIH: National Institute of Allergy and Infectious Diseases", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Radius absent anogenital anomalies ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Radius absent anogenital anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Radius absent anogenital anomalies. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia of the radius 90% Hydrocephalus 90% Oligohydramnios 90% Split hand 90% Displacement of the external urethral meatus 50% Urogenital fistula 50% Absent radius - Anal atresia - Penile hypospadias - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Thiamine responsive megaloblastic anemia syndrome ?"}, {"role": "assistant", "content": "Thiamine-responsive megaloblastic anemia syndrome is a very rare condition characterized by hearing loss, diabetes, and a blood disorder called megaloblastic anemia. Affected individuals begin to show symptoms of this condition between infancy and adolescence. This syndrome is called \"thiamine-responsive\" because the anemia can be treated with high doses of vitamin B1 (thiamine). This condition is caused by mutations in the SLC19A2 gene and is inherited in an autosomal recessive fashion.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Who is at risk for Asbestos-Related Lung Diseases? ?"}, {"role": "assistant", "content": "Until the late 1970s, asbestos was widely used in many industries in the United States. During that time, workplace rules to ensure workers' safety around asbestos weren't required by law.\n \nAsbestos was used in or with many products. Examples include steam pipes, boilers, furnaces, and furnace ducts; wallboard; floor and ceiling tiles; wood-burning stoves and gas fireplaces; car brakes, clutches, and gaskets; railroad engines; roofing and shingles; and wall-patching materials and paints.\n \nAsbestos also was used in many other products, such as fireproof gloves, ironing board covers, cooking pot handles, and hairdryers.\n \nAnyone employed for a prolonged period in mining, milling, making, or installing asbestos products before the late 1970s is at risk for asbestos-related lung diseases. Some examples of these workers include:\n \nMiners\n \nAircraft and auto mechanics\n \nBuilding construction workers\n \nElectricians\n \nShipyard workers\n \nBoiler operators\n \nBuilding engineers\n \nRailroad workers\n \nIn general, the risk is greatest for people who worked with asbestos and were exposed for at least several months to visible dust from asbestos fibers. The risk for asbestos-related lung diseases also depends on:\n \nHow much asbestos you were exposed to.\n \nHow long you were exposed to asbestos, and how often during that time you were in direct contact with it.\n \nThe size, shape, and chemical makeup of the asbestos fibers. Different types of asbestos fibers can affect the lungs differently. For example, chrysotile asbestos (a curly fiber) is less likely to cause mesothelioma than amphibole asbestos (a straight fiber).\n \nYour personal risks, such as smoking or having an existing lung disease.\n \nFamily members of people exposed to asbestos on the job also may be at risk. Family members may have breathed in asbestos fibers that were brought home on workers clothes, shoes, and bodies.\n \nPeople who live in areas that have large deposits of asbestos in the soil also are at risk for asbestos-related lung diseases. However, this risk is limited to areas where the deposits were disturbed and asbestos fibers got into the air.\n \nAsbestos fibers also can be released into the air when older buildings containing asbestos-made products are destroyed. Removing the products, such as during a building renovation, also can release asbestos fibers into the air.\n \nGenerally, being around asbestos-made products isnt a danger, as long as the asbestos is enclosed. This prevents the fibers from getting into the air.\n \nPeople in the United States are less likely to develop asbestos-related lung diseases today than in the past. This is because the mineral no longer is widely used. Also, where asbestos is still used, rules and standards are now in place to protect workers and others from asbestos exposure.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Parasites - Taeniasis ?"}, {"role": "assistant", "content": "Taeniasis in humans is a parasitic infection caused by the tapeworm species Taenia saginata (beef tapeworm), Taenia solium (pork tapeworm), and Taenia asiatica (Asian tapeworm). Humans can become infected with these tapeworms by eating raw or undercooked beef (T. saginata) or pork (T. solium and T. asiatica). People with taeniasis may not know they have a tapeworm infection because symptoms are usually mild or nonexistent.\n\nT. solium tapeworm infections can lead to cysticercosis, which is a disease that can cause seizures, so it is important seek treatment.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Dyssegmental dysplasia Silverman-Handmaker type ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Dyssegmental dysplasia Silverman-Handmaker type? The Human Phenotype Ontology provides the following list of signs and symptoms for Dyssegmental dysplasia Silverman-Handmaker type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal form of the vertebral bodies 90% Abnormality of pelvic girdle bone morphology 90% Abnormality of the metaphyses 90% Blue sclerae 90% Bowing of the long bones 90% Limitation of joint mobility 90% Micromelia 90% Narrow chest 90% Short stature 90% Atria septal defect 50% Cleft palate 50% Depressed nasal ridge 50% Respiratory insufficiency 50% Umbilical hernia 50% Abnormality of the abdominal wall - Anisospondyly - Autosomal recessive inheritance - Cryptorchidism - Disproportionate short-limb short stature - Flat face - Malar flattening - Narrow mouth - Neonatal death - Overgrowth - Posteriorly rotated ears - Pulmonary hypoplasia - Skull defect - Talipes equinovarus - Thoracic hypoplasia - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Noonan syndrome 1 ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Noonan syndrome 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Noonan syndrome 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Intellectual disability 25% Hypogonadism 7.5% Abnormal bleeding - Amegakaryocytic thrombocytopenia - Atria septal defect - Autosomal dominant inheritance - Brachydactyly syndrome - Clinodactyly - Coarctation of aorta - Cryptorchidism - Cubitus valgus - Cystic hygroma - Dental malocclusion - Epicanthus - Failure to thrive in infancy - Heterogeneous - High palate - Hypertelorism - Hypertrophic cardiomyopathy - Kyphoscoliosis - Low posterior hairline - Low-set, posteriorly rotated ears - Lymphedema - Male infertility - Myopia - Neurofibrosarcoma - Patent ductus arteriosus - Pectus excavatum of inferior sternum - Postnatal growth retardation - Ptosis - Pulmonic stenosis - Radial deviation of finger - Reduced factor XII activity - Reduced factor XIII activity - Sensorineural hearing impairment - Shield chest - Short neck - Short stature - Superior pectus carinatum - Synovitis - Triangular face - Ventricular septal defect - Webbed neck - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Hereditary multiple osteochondromas ?"}, {"role": "assistant", "content": "Is genetic testing available for hereditary multiple osteochondromas? GeneTests lists the names of laboratories that are performing genetic testing for hereditary multiple osteochondromas. To view the contact information for the clinical laboratories conducting testing for the EXT1 gene, click here. To view the contact information for the clinical laboratories conducting testing for the EXT2 gene, click here. Please note: Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional. Below, we provide a list of online resources that can assist you in locating a genetics professional near you. How might malignant transformation in hereditary multiple exostoses (HME) be diagnosed? Surface irregularities and unorganized chalk deposits with light areas in the middle of the tumor and cartilage cap may be seen on a bone scan, ultrasound or preferably an MRI. However the diagnosis of chondrosarcoma can only be confirmed by a bone biopsy. What are the signs and symptoms of malignant transformation in hereditary multiple exostoses (HME)? A doctor may become suspicious of a malignant transformation if there is an increase in the size of the tumor in adults when bone growth is already complete. In addition, cancer should be suspected if the thickness of the cartilaginous cap of the osteochondroma is over 1-2 centimeters (normally, after bone growth is complete, the cap is only a few millimeters thick). Other signs of a malignant transformation may include bone pain, temporary loss of sensory or motor function due to compression of a nerve (neurapraxia) or pressure related symptoms in nearby organs. Is screening recommended for malignant transformation in hereditary multiple exostoses (HME)? At present, medical researchers agree that more studies need to be performed to determine the best screening protocols for those with HME, including the study of benefit/cost/risk. However a compelling study was published in 2014 by Czajka and DiCaprio which compares the screening of malignant transformation in people with HME to the screening of breast and cervical cancer in women. The authors conclude that screening should be offered to individuals with HME over the age of 16 (or when bone growth has been completed). They propose screening should include a thorough clinical examination and a full body MRI every two years. If an MRI is not possible than a bone scan be performed, followed by an ultrasound of the cartilage cap of any suspicious findings. The Czajka and DiCaprio further recommend that individuals with HME should be made aware of warning signs of malignant transformation and taught self examination techniques.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Oropharyngeal Cancer ?"}, {"role": "assistant", "content": "Tests that examine the mouth and throat are used to help detect (find), diagnose, and stage oropharyngeal cancer. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as swollen lymph nodes in the neck or anything else that seems unusual. The medical doctor or dentist does a complete exam of the mouth and neck and looks under the tongue and down the throat with a small, long-handled mirror to check for abnormal areas. An exam of the eyes may be done to check for vision problems that are caused by nerves in the head and neck. A history of the patients health habits and past illnesses and treatments will also be taken. - PET-CT scan : A procedure that combines the pictures from a positron emission tomography (PET) scan and a computed tomography (CT) scan. The PET and CT scans are done at the same time with the same machine. The combined scans give more detailed pictures of areas inside the body than either scan gives by itself. A PET-CT scan may be used to help diagnose disease, such as cancer, plan treatment, or find out how well treatment is working. - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, such as the head and neck, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye is injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - PET scan (positron emission tomography scan): A procedure to find malignant tumor cells in the body. A small amount of radioactive glucose (sugar) is injected into a vein. The PET scanner rotates around the body and makes a picture of where glucose is being used in the body. Malignant tumor cells show up brighter in the picture because they are more active and take up more glucose than normal cells do. - MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body. This procedure is also called nuclear magnetic resonance imaging (NMRI). - Biopsy : The removal of cells or tissues so they can be viewed under a microscope by a pathologist to check for signs of cancer. A fine-needle biopsy is usually done to remove a sample of tissue using a thin needle. The following procedures may be used to remove samples of cells or tissue: - Endoscopy : A procedure to look at organs and tissues inside the body to check for abnormal areas. An endoscope is inserted through an incision (cut) in the skin or opening in the body, such as the mouth or nose. An endoscope is a thin, tube-like instrument with a light and a lens for viewing. It may also have a tool to remove abnormal tissue or lymph node samples, which are checked under a microscope for signs of disease. The nose, throat, back of the tongue, esophagus, stomach, larynx, windpipe, and large airways will be checked. The type of endoscopy is named for the part of the body that is being examined. For example, pharyngoscopy is an exam to check the pharynx. - Laryngoscopy : A procedure in which the doctor checks the larynx with a mirror or with a laryngoscope. A laryngoscope is a thin, tube-like instrument with a light and a lens for viewing. It may also have a tool to remove abnormal tissue or lymph node samples, which are checked under a microscope for signs of disease. If cancer is found, the following test may be done to study the cancer cells: - HPV test (human papillomavirus test): A laboratory test used to check the sample of tissue for certain types of HPV infection. This test is done because oropharyngeal cancer can be caused by HPV.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Opitz G/BBB syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Opitz G/BBB syndrome? Opitz G/BBB syndrome mainly affects structures along the midline of the body. The most common features of the condition are wide-spaced eyes (hypertelorism); defects of the larynx, trachea, and/or esophagus causing breathing problems and difficulty swallowing (dysphagia); and in males, the urethra opening on the underside of the penis (hypospadias). Mild intellectual disability and developmental delay occur in about 50 percent of people with Opitz G/BBB syndrome. Delays in motor skills, speech delays, and learning difficulties may also occur. Some individuals with Opitz G/BBB syndrome have features similar to autistic spectrum disorders, including impaired communication and socialization skills. About half of affected individuals also have cleft lip with or without a cleft palate. Some have cleft palate alone. Heart defects, an obstruction of the anal opening (imperforate anus), and brain defects such as an absence of the tissue connecting the left and right halves of the brain (agenesis of the corpus callosum) occur in less than 50 percent of those affected. Facial abnormalities that may be seen in this disorder can include a flat nasal bridge, thin upper lip, and low set ears. These features vary among affected individuals, even within the same family. The signs and symptoms of the autosomal dominant form of the condition are comparable to those seen in the X-linked form. However, the X-linked form of Opitz G/BBB syndrome tends to include cleft lip with or without cleft palate, while cleft palate alone is more common in the autosomal dominant form. Females with X-linked Opitz G/BBB syndrome are usually mildly affected, as hypertelorism may be the only sign of the disorder. The Human Phenotype Ontology provides the following list of signs and symptoms for Opitz G/BBB syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the pharynx 90% Anteverted nares 90% Displacement of the external urethral meatus 90% Epicanthus 90% Abnormality of the voice 50% Cognitive impairment 50% Respiratory insufficiency 50% Increased number of teeth 7.5% Low-set, posteriorly rotated ears 7.5% Pectus carinatum 7.5% Pectus excavatum 7.5% Prominent metopic ridge 7.5% Reduced number of teeth 7.5% Sensorineural hearing impairment 7.5% Craniosynostosis 5% Abnormality of cardiovascular system morphology - Abnormality of the kidney - Abnormality of the nasopharynx - Abnormality of the ureter - Absent gallbladder - Agenesis of corpus callosum - Anal atresia - Anal stenosis - Aplasia/Hypoplasia of the cerebellar vermis - Aspiration - Atria septal defect - Autosomal dominant inheritance - Bifid scrotum - Bifid uvula - Cavum septum pellucidum - Cerebellar vermis hypoplasia - Cerebral cortical atrophy - Cleft palate - Cleft upper lip - Coarctation of aorta - Conductive hearing impairment - Cranial asymmetry - Cryptorchidism - Depressed nasal bridge - Diastasis recti - Dysphagia - Frontal bossing - Gastroesophageal reflux - Hiatus hernia - High palate - Hypertelorism - Hypospadias - Inguinal hernia - Intellectual disability - Laryngeal cleft - Muscular hypotonia - Patent ductus arteriosus - Posterior pharyngeal cleft - Posteriorly rotated ears - Prominent forehead - Pulmonary hypertension - Pulmonary hypoplasia - Short lingual frenulum - Smooth philtrum - Strabismus - Telecanthus - Tracheoesophageal fistula - Umbilical hernia - Ventricular septal defect - Ventriculomegaly - Weak cry - Wide nasal bridge - Widow's peak - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Drowning ?"}, {"role": "assistant", "content": "People drown when they get too much water in their lungs. You can drown in as little as an inch or two of water. Babies can drown in a sink or bathtub. Preschoolers are most likely to drown in a swimming pool. People who have seizure disorders are also at risk in the water. Drowning can happen quickly and silently. Drowning precautions should include - Fences around pools - Supervising children near any body of water, including tubs - Not swimming or boating when under the influence of alcohol or sedatives - Wearing life jackets when boating - Learning CPR", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Heart Failure ?"}, {"role": "assistant", "content": "Early diagnosis and treatment can help people who have heart failure live longer, more active lives. Treatment for heart failure depends on the type and severity of the heart failure.\n \nThe goals of treatment for all stages of heart failure include:\n \nTreating the conditions underlying cause, such ascoronary heart disease,high blood pressure, ordiabetes\n \nReducing symptoms\n \nStopping the heart failure from getting worse\n \nIncreasing your lifespan and improving your quality of life\n \nTreatments usually include lifestyle changes, medicines, and ongoing care. If you have severe heart failure, you also may need medical procedures or surgery.\n \nHeart-Healthy Lifestyle Changes\n \nYour doctor may recommend heart-healthy lifestyle changes if you have heart failure. Heart-healthy lifestyle changes include:\n \nHeart-healthy eating\n \nMaintaining a healthy weight\n \nPhysical activity\n \nQuitting smoking\n \nHeart-Healthy Eating\n \nYour doctor may recommend a heart-healthy eating plan, which should include:\n \nFat-free or low-fat dairy products, such as skim milk\n \nFish high in omega-3 fatty acids, such as salmon, tuna, and trout, about twice a week\n \nFruits, such as apples, bananas, oranges, pears, and prunes\n \nLegumes, such as kidney beans, lentils, chickpeas, black-eyed peas, and lima beans\n \nVegetables, such as broccoli, cabbage, and carrots\n \nWhole grains, such as oatmeal, brown rice, and corn tortillas\n \nWhen following a heart-healthy diet, you should avoid eating:\n \nA lot of red meat\n \nPalm and coconut oils\n \nSugary foods and beverages\n \nTwo nutrients in your diet make blood cholesterol levels rise:\n \nSaturated fatfound mostly in foods that come from animals\n \nTrans fat (trans fatty acids)found in foods made with hydrogenated oils and fats, such as stick margarine; baked goods, such as cookies, cakes, and pies; crackers; frostings; and coffee creamers. Some trans fats also occur naturally in animal fats andmeats.\n \nSaturated fat raises your blood cholesterol more than anything else in your diet. When you follow a heart-healthy eating plan, only 5 percent to 6 percent of your daily calories should come from saturated fat. Food labels list the amounts of saturated fat. To help you stay on track, here are some examples:\n \nIf you eat:\n \nTry to eat no more than:\n \n1,200 calories a day \n \n8 grams of saturated fat a day \n \n1,500 calories a day\n \n10 grams of saturated fat a day\n \n1,800 calories a day\n \n12 grams of saturated fat a day\n \n2,000 calories a day\n \n13 grams of saturated fat a day\n \n2,500 calories a day\n \n17 grams of saturated fat a day\n \nNot all fats are bad. Monounsaturated and polyunsaturated fats actually help lower blood cholesterollevels.\n \nSome sources of monounsaturated and polyunsaturated fats are:\n \nAvocados\n \nCorn, sunflower, and soybean oils\n \nNuts and seeds, such as walnuts\n \nOlive, canola, peanut, safflower, and sesame oils\n \nPeanut butter\n \nSalmon and trout\n \nTofu\n \nSodium\n \nYou should try to limit the amount of sodium that you eat. This means choosing and preparing foods that are lower in salt and sodium. Try to use low-sodium and no added salt foods and seasonings at the table or while cooking. Food labels tell you what you need to know about choosing foods that are lower in sodium. Try to eat no more than 2,300 milligrams of sodium a day. If you have high blood pressure, you may need to restrict your sodium intake even more.\n \nDietary Approaches to Stop Hypertension\n \nYour doctor may recommend the Dietary Approaches to Stop Hypertension (DASH) eating plan if you have high blood pressure. The DASH eating plan focuses on fruits, vegetables, whole grains, and other foods that are heart healthy and low in fat, cholesterol, and sodium and salt.\n \nThe DASH eating plan is a good heart-healthy eating plan, even for those who dont have high blood pressure. Read more about DASH.\n \nLiquid Intake\n \nIts important for people who have heart failure to take in the correct amounts and types of liquids. Consuming too much liquid can worsen heart failure. Also, if you have heart failure, you shouldnt drink alcohol. Talk with your doctor about what amounts and types of liquids you should have each day.\n \nMaintaining a Healthy Weight\n \nMaintaining a healthy weight is important for overall health and can lower your risk for heart failure and coronary heart disease. Aim for a Healthy Weight by following a heart-healthy eating plan and keeping physically active.\n \nKnowing your body mass index (BMI) helps you find out if youre a healthy weight in relation to your height and gives an estimate of your total body fat. To figure out your BMI, check out the National Heart, Lung, and Blood Institutes (NHLBI) online BMI calculator or talk to your doctor. A BMI:\n \nBelow 18.5 is a sign that you are underweight.\n \nBetween 18.5 and 24.9 is in the normal range.\n \nBetween 25 and 29.9 is considered overweight.\n \nOf 30 or more is considered obese.\n \nA general goal to aim for is a BMI below 25. Your doctor or health care provider can help you set an appropriate BMI goal.\n \nMeasuring waist circumference helps screen for possible health risks. If most of your fat is around your waist rather than at your hips, youre at a higher risk for heart disease and type 2 diabetes. This risk may be higher with a waist size that is greater than 35 inches for women or greater than 40 inches for men. To learn how to measure your waist, visit Assessing Your Weight and Health Risk.\n \nIf youre overweight or obese, try to lose weight. A loss of just 3 percent to 5 percent of your current weight can lower your triglycerides, blood glucose, and the risk of developing type 2 diabetes. Greater amounts of weight loss can improve blood pressure readings, lower LDL cholesterol, and increase HDL cholesterol.\n \nPhysical Activity\n \nRoutine physical activity can lower many coronary heart disease risk factors, including LDL (bad) cholesterol, high blood pressure, and excess weight. Physical activity also can lower your risk for diabetes and raise your HDL cholesterol level. HDL is the good cholesterol that helps prevent coronary heart disease.\n \nEveryone should try to participate in moderate-intensity aerobic exercise at least 2hours and 30minutes per week, or vigorous aerobic exercise for 1hour and 15minutes per week. Aerobic exercise, such as brisk walking, is any exercise in which your heart beats faster and you use more oxygen than usual. The more active you are, the more you will benefit. Participate in aerobic exercise for at least 10minutes at a time spread throughout the week.\n \nRead more about physical activity at:\n \nPhysical Activity and Your Heart\n \nU.S. Department of Health and Human Services 2008 Physical Activity Guidelines forAmericans\n \nTalk with your doctor before you start a new exercise plan. Ask your doctor how much and what kinds of physical activity are safe for you.\n \nQuitting Smoking\n \nIf you smoke, quit. Smoking can raise your risk for coronary heart disease and heart attack and worsen heart failure. Talk with your doctor about programs and products that can help you quit smoking. Also, try to avoid secondhand smoke.\n \nIf you have trouble quitting smoking on your own, consider joining a support group. Many hospitals, workplaces, and community groups offer classes to help people quit smoking.\n \nRead more about quitting smoking at Smoking and Your Heart.\n \nMedicines\n \nYour doctor will prescribe medicines based on the type of heart failure you have, how severe it is, and your response to certain medicines. The following medicines are commonly used to treat heart failure:\n \nACE inhibitors lower blood pressure and reduce strain on your heart. They also may reduce the risk of a futureheart attack.\n \nAldosterone antagonists trigger the body to remove excess sodium through urine. This lowers the volume of blood that the heart must pump.\n \nAngiotensin receptor blockers relax your blood vessels and lower blood pressure to decrease your hearts workload.\n \nBeta blockers slow your heart rate and lower your blood pressure to decrease your hearts workload.\n \nDigoxin makes the heart beat stronger and pump more blood.\n \nDiuretics (fluid pills) help reduce fluid buildup in your lungs and swelling in your feet and ankles.\n \nIsosorbide dinitrate/hydralazine hydrochloride helps relax your blood vessels so your heart doesnt work as hard to pump blood. Studies have shown that this medicine can reduce the risk of death in blacks. More studies are needed to find out whether this medicine will benefit other racial groups.\n \nTake all medicines regularly, as your doctor prescribes. Dont change the amount of your medicine or skip a dose unless your doctor tells you to. You should still follow a heart healthy lifestyle, even if you take medicines to treat your heart failure.\n \nOngoing Care\n \nYou should watch for signs that heart failure is getting worse. For example, weight gain may mean that fluids are building up in your body. Ask your doctor how often you should check your weight and when to report weight changes.\n \nGetting medical care for other related conditions is important. If you have diabetes or high blood pressure, work with your health care team to control these conditions. Have your blood sugar level and blood pressure checked. Talk with your doctor about when you should have tests and how often to take measurements at home.\n \nTry to avoid respiratory infections like the flu andpneumonia. Talk with your doctor or nurse about getting flu and pneumonia vaccines.\n \nMany people who have severe heart failure may need treatment in a hospital from time to time. Your doctor may recommend oxygen therapy, which can be given in a hospital or at home.\n \nMedical Procedures and Surgery\n \nAs heart failure worsens, lifestyle changes and medicines may no longer control your symptoms. You may need a medical procedure or surgery.\n \nIn heart failure, the right and left sides of the heart may no longer contract at the same time. This disrupts the hearts pumping. To correct this problem, your doctor might implant a cardiac resynchronization therapy device (a type ofpacemaker) near your heart. This device helps both sides of your heart contract at the same time, which can decrease heart failure symptoms.\n \nSome people who have heart failure have very rapid, irregular heartbeats. Without treatment, these heartbeats can causesudden cardiac arrest. Your doctor might implant an implantable cardioverter defibrillator (ICD) near your heart to solve this problem. An ICD checks your heart rate and uses electrical pulses to correct irregular heart rhythms.\n \nPeople who have severe heart failure symptoms at rest, despite other treatments, may need:\n \nA mechanical heart pump, such as aleft ventricular assist device. This device helps pump blood from the heart to the rest of the body. You may use a heart pump until you have surgery or as a long-term treatment.\n \nHeart transplant. A heart transplant is an operation in which a persons diseased heart is replaced with a healthy heart from a deceased donor. Heart transplants are done as a life-saving measure for end-stage heart failure when medical treatment and less drastic surgery have failed.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Tracheobronchomalacia ?"}, {"role": "assistant", "content": "Tracheobronchomalacia (TBM) is a rare condition that occurs when the walls of the airway (specifically the trachea and bronchi) are weak. This can cause the airway to become narrow or collapse. There are two forms of TBM: a congenital form (called primary TBM) that typically develops during infancy or early childhood and an acquired form (called secondary TBM) that is usually seen in adults. Some affected people may initially have no signs or symptoms. However, the condition is typically progressive (becomes worse overtime) and most people will eventually develop characteristic features such as shortness of breath, cough, sputum retention (inability to clear mucus from the respiratory tract), and wheezing or stridor with breathing. Most cases of primary TBM are caused by genetic conditions that weaken the walls of the airway, while the secondary form often occurs incidentally due to trauma, chronic inflammation and/or prolonged compression of the airways. Treatment is generally only required in those who have signs and symptoms of the condition and may include stenting, surgical correction, continuous positive airway pressure (CPAP), and tracheostomy.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Raynaud's Disease ?"}, {"role": "assistant", "content": "Raynaud's disease is a rare disorder of the blood vessels, usually in the fingers and toes. It causes the blood vessels to narrow when you are cold or feeling stressed. When this happens, blood can't get to the surface of the skin and the affected areas turn white and blue. When the blood flow returns, the skin turns red and throbs or tingles. In severe cases, loss of blood flow can cause sores or tissue death. Primary Raynaud's happens on its own. The cause is not known. There is also secondary Raynaud's, which is caused by injuries, other diseases, or certain medicines. People in colder climates are more likely to develop Raynaud's. It is also more common in women, people with a family history, and those over age 30. Treatment for Raynaud's may include drugs to keep the blood vessels open. There are also simple things you can do yourself, such as - Soaking hands in warm water at the first sign of an attack - Keeping your hands and feet warm in cold weather - Avoiding triggers, such as certain medicines and stress NIH: National Heart, Lung, and Blood Institute", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by Perry syndrome ?"}, {"role": "assistant", "content": "Perry syndrome is very rare; about 50 affected individuals have been reported worldwide.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "what research (or clinical trials) is being done for Stroke ?"}, {"role": "assistant", "content": "The National Institute of Neurological Disorders and Stroke (NINDS) conducts stroke research and clinical trials at its laboratories and clinics at the National Institutes of Health (NIH), and through grants to major medical institutions across the country. Currently, NINDS researchers are studying the mechanisms of stroke risk factors and the process of brain damage that results from stroke. Basic research has also focused on the genetics of stroke and stroke risk factors. Scientists are working to develop new and better ways to help the brain repair itself to restore important functions. New advances in imaging and rehabilitation have shown that the brain can compensate for function lost as a result of stroke.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What to do for Viral Hepatitis: A through E and Beyond ?"}, {"role": "assistant", "content": "- Viral hepatitis is inflammation of the liver caused by the hepatitis A, B, C, D, or E viruses. - Depending on the type of virus, viral hepatitis is spread through contaminated food or water, contact with infected blood, sexual contact with an infected person, or from mother to child during childbirth. - Vaccines offer protection from hepatitis A and hepatitis B. - No vaccines are available for hepatitis C, D, and E. Reducing exposure to the viruses offers the best protection. - Hepatitis A and E usually resolve on their own. Hepatitis B, C, and D can be chronic and serious. Drugs are available to treat chronic hepatitis.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Poland syndrome ?"}, {"role": "assistant", "content": "Poland syndrome is characterized by an underdeveloped or absent chest muscle on one side of the body, absence of the breastbone portion (sternal) of the chest muscle, and webbing of the fingers of the hand on the same side. The cause of Poland syndrome is not known. This syndrome is nearly always sporadic. It tends to occur on the right side and is more common in boys than girls. Treatment typically involves surgical correction of the chest wall deformities.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Ehlers-Danlos syndrome, vascular type ?"}, {"role": "assistant", "content": "How might Ehlers-Danlos syndrome, vascular type be treated? The treatment and management of Ehlers-Danlos syndrome (EDS), vascular type is focused on relieving associated signs and symptoms and preventing serious complications. For example, people with EDS, vascular type have tissue fragility that puts them at high risk for rupture of arteries, muscles and internal organs. It is, therefore, important to seek immediate medical attention for any sudden, unexplained pain as emergency surgery may be indicated. Pregnant women with EDS, vascular type should be followed by a maternal-fetal specialists at a high-risk perinatal center. Periodic screening may be recommended to diagnose aneurysms or other problems that may not be associated with obvious symptoms. People with the EDS, vascular type should also minimize risk of injury by avoiding contact sports, heavy lifting, and weight training. Elective surgery is also discouraged. GeneReview's Web site offers more specific information about the treatment and management of EDS, vascular type. Please click on the link to access this resource. Please speak to your healthcare provider if you have any questions about your personal medical management plan.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Sexual Assault ?"}, {"role": "assistant", "content": "Sexual assault is any sexual activity to which you haven't freely given your consent. This includes completed or attempted sex acts that are against your will. Sometimes it can involve a victim who is unable to consent. It also includes abusive sexual contact. It can happen to men, women or children. The attacker can be anyone - a current or former partner, a family member, a person in position of power or trust, a friend, an acquaintance, or a stranger. Sexual assault can affect your health in many ways. It can lead to long-term health and emotional problems. It is important to seek help if you have been assaulted. First, get to a safe place. Then dial 9-1-1 or go to a hospital for medical care. You may want to have counseling to deal with your feelings. The most important thing to know is that the assault was not your fault. Centers for Disease Control and Prevention", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) recurrent hydatidiform mole ?"}, {"role": "assistant", "content": "Recurrent hydatidiform mole occurs when women have at least two abnormal pregnancies described as hydatidiform moles. A hydatidiform mole occurs early in pregnancy when an embryo does not fully develop and the placenta develops abnormally. The placenta is a solid structure in the uterus that normally provides nutrients to a growing fetus. If a hydatidiform mole occurs once, it is known a sporadic hydatidiform mole; if it happens again, the condition is known as recurrent hydatidiform mole. A hydatidiform mole often causes vaginal bleeding in the first trimester of the pregnancy. In an ultrasound examination, the abnormal placenta appears as numerous small sacs, often described as resembling a bunch of grapes. In some cases, the ultrasound shows no fetus, umbilical cord, or amniotic sac (a fluid-filled sac that normally surrounds the fetus). Hydatidiform moles are not naturally discharged from the body and must be surgically removed, typically by the end of the first trimester. After removal, there is up to a 20 percent risk that any tissue left behind (persistent mole) will continue to grow and become a cancerous tumor called an invasive mole. The invasive mole can transform into a different form of cancer called gestational choriocarcinoma that can spread (metastasize) to other tissues such as the liver, lungs, or brain.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by asphyxiating thoracic dystrophy ?"}, {"role": "assistant", "content": "Asphyxiating thoracic dystrophy affects an estimated 1 in 100,000 to 130,000 people.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Factor V Leiden thrombophilia ?"}, {"role": "assistant", "content": "What are the signs and symptoms of factor V Leiden thrombophilia? Individuals affected by factor V Leiden thrombophilia have an increased risk of developing blood clots. The severity of factor V Leiden thrombophilia is extremely variable. Many individuals with the factor V Leiden allele never develop a blood clot. Although most individuals with factor V thrombophilia do not experience their first thrombotic event until adulthood, some have recurrent thromboembolism before age 30 years. The chance a person will develop a blood clot is affected by the number of factor V Leiden mutations, the presence of coexisting genetic abnormalities, and non-genetic risk factors. Non-genetic risk factors include surgery, long periods of not moving (like sitting on a long airplane ride), birth control pills and other female hormones, childbirth within the last 6 months, and traumas or fractures. Individuals who inherit one copy of the factor V Leiden mutation have a fourfold to eightfold increase in the chance of developing a clot. Homozygotes (people who inherit two factor V Leiden mutations) may have up to 80 times the usual risk of developing a blood clot. Considering that the risk of developing an abnormal blood clot averages about 1 in 1,000 per year in the general population, the presence of one copy of the factor V Leiden mutation increases that risk to 4 to 8 in 1,000, and having two copies of the mutation may raise the risk as high as 80 in 1,000. People with factor V Leiden have an increased chance of having a blood clot that forms in large veins in the legs (deep venous thrombosis, or DVT) or a clot that travels through the bloodstream and lodges in the lungs (pulmonary embolism, or PE). Symptoms of deep vein thrombosis usually include leg pain, tenderness, swelling, increased warmth or redness in one leg. The symptoms of pulmonary embolism usually include cough, chest pain, shortness of breath or rapid heartbeat or breathing. To learn more about the symptoms of DVT and PE, click here.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Keratosis, seborrheic ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Keratosis, seborrheic? The Human Phenotype Ontology provides the following list of signs and symptoms for Keratosis, seborrheic. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Verrucae - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What to do for Cirrhosis ?"}, {"role": "assistant", "content": "A healthy diet is important in all stages of cirrhosis because malnutrition is common in people with this disease. Malnutrition is a condition that occurs when the body does not get enough nutrients. Cirrhosis may lead to malnutrition because it can cause\n \n- people to eat less because of symptoms such as loss of appetite - changes in metabolism - reduced absorption of vitamins and minerals\n \nHealth care providers can recommend a meal plan that is well balanced and provides enough calories and protein. If ascites develops, a health care provider or dietitian may recommend a sodium-restricted diet. To improve nutrition, the health care provider may prescribe a liquid supplement. A person may take the liquid by mouth or through a nasogastric tubea tiny tube inserted through the nose and throat that reaches into the stomach.\n \nA person with cirrhosis should not eat raw shellfish, which can contain a bacterium that causes serious infection. Cirrhosis affects the immune system, making people with cirrhosis more likely than healthy people to develop an infection after eating shellfish that contain this bacterium.\n \nA health care provider may recommend calcium and vitamin D supplements to help prevent osteoporosis.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Teebi Naguib Al Awadi syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Teebi Naguib Al Awadi syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Teebi Naguib Al Awadi syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of pelvic girdle bone morphology 90% Abnormality of the fibula 90% Abnormality of the fingernails 90% Abnormality of the tibia 90% Abnormality of the ulna 90% Absent ulna 90% Aplasia/hypoplasia of the femur 90% Bowing of the long bones 90% Fibular aplasia 90% Micromelia 90% Oligodactyly (feet) 90% Oligodactyly (hands) 90% Short foot 90% Short stature 90% Split foot 90% Split hand 90% Aplasia/Hypoplasia involving the carpal bones 75% Aplasia/Hypoplasia involving the metacarpal bones 75% Aplasia/Hypoplasia of metatarsal bones 75% Aplasia/Hypoplasia of the phalanges of the hand 75% Aplasia/Hypoplasia of the phalanges of the toes 75% Aplasia/Hypoplasia of the tarsal bones 75% Disproportionate short stature 75% Elbow ankylosis 75% Elbow flexion contracture 75% Humeroradial synostosis 75% Hypoplasia of the radius 75% Phocomelia 75% Radial bowing 75% Abnormality of female internal genitalia 50% Aplasia/Hypoplasia of the pubic bone 50% Aplasia/Hypoplasia of the radius 50% Femoral bowing 50% Intrauterine growth retardation 50% Short neck 50% Abnormality of the humerus 7.5% Abnormality of the pinna 7.5% Cleft palate 7.5% Cryptorchidism 7.5% Hip dislocation 7.5% Hydrops fetalis 7.5% Hypoplasia of penis 7.5% Meningocele 7.5% Short nose 7.5% Skull defect 7.5% Talipes 7.5% Tracheoesophageal fistula 7.5% Urogenital fistula 7.5% Aplasia of the uterus 5% Occipital meningocele 5% Anteriorly displaced genitalia 4/5 Barrel-shaped chest 2/3 Cryptorchidism 2/3 Long face 2/3 Prominent sternum 2/3 Broad clavicles 3/5 Broad neck 3/5 Broad ribs 3/5 Scrotal hypoplasia 1/3 Anonychia - Aplastic pubic bones - Autosomal recessive inheritance - Carpal bone aplasia - Congenital pseudoarthrosis of the clavicle - Decreased calvarial ossification - Epicanthus - Hemivertebrae - High palate - Hypoplastic nipples - Hypospadias - Long ear - Low-set ears - Narrow palate - Pectus carinatum - Pilonidal sinus - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Gum (Periodontal) Disease ?"}, {"role": "assistant", "content": "Symptoms Symptoms of gum disease may include: - bad breath that won't go away - red or swollen gums - tender or bleeding gums - painful chewing - loose teeth - sensitive teeth - receding gums or longer appearing teeth bad breath that won't go away red or swollen gums tender or bleeding gums painful chewing loose teeth sensitive teeth receding gums or longer appearing teeth If You Have Symptoms Any of these symptoms may be a sign of a serious problem that should be checked by a dentist. Sometimes gum disease has no clear symptoms. At your dental visit, the dentist or hygienist should - ask about your medical history to identify any conditions or risk factors (such as smoking) that may contribute to gum disease. - examine your gums and note any signs of inflammation. - use a tiny ruler called a 'probe' to check for and measure any pockets. In a healthy mouth, the depth of these pockets is usually between 1 and 3 millimeters. This test for pocket depth is usually painless. ask about your medical history to identify any conditions or risk factors (such as smoking) that may contribute to gum disease. examine your gums and note any signs of inflammation. use a tiny ruler called a 'probe' to check for and measure any pockets. In a healthy mouth, the depth of these pockets is usually between 1 and 3 millimeters. This test for pocket depth is usually painless. The dentist or hygienist may also - take an x-ray to see whether there is any bone loss and to examine the condition of the teeth and supporting tissues. - refer you to a periodontist. Periodontists are experts in the diagnosis and treatment of gum disease and may provide you with treatment options that are not offered by your dentist. take an x-ray to see whether there is any bone loss and to examine the condition of the teeth and supporting tissues. refer you to a periodontist. Periodontists are experts in the diagnosis and treatment of gum disease and may provide you with treatment options that are not offered by your dentist.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to Behet disease ?"}, {"role": "assistant", "content": "The cause of Behet disease is unknown. The condition probably results from a combination of genetic and environmental factors, most of which have not been identified. However, a particular variation in the HLA-B gene has been strongly associated with the risk of developing Behet disease. The HLA-B gene provides instructions for making a protein that plays an important role in the immune system. The HLA-B gene is part of a family of genes called the human leukocyte antigen (HLA) complex. The HLA complex helps the immune system distinguish the body's own proteins from proteins made by foreign invaders (such as viruses and bacteria). The HLA-B gene has many different normal variations, allowing each person's immune system to react to a wide range of foreign proteins. A variation of the HLA-B gene called HLA-B51 increases the risk of developing Behet disease. Although many people with Behet disease have the HLA-B51 variation, most people with this version of the HLA-B gene never develop the disorder. It is unknown how HLA-B51 increases the risk of developing Behet disease. Researchers have considered many other genetic and environmental factors as possible contributors to Behet disease. Studies have examined several genes related to immune system function, although no gene except HLA-B has been definitively associated with an increased risk of Behet disease. It appears likely that environmental factors, such as certain bacterial or viral infections, play a role in triggering the disease in people who are at risk. However, the influence of genetic and environmental factors on the development of this complex disorder remains unclear.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Mycosis Fungoides and the Szary Syndrome ?"}, {"role": "assistant", "content": "Key Points\n - Mycosis fungoides and the Szary syndrome are diseases in which lymphocytes (a type of white blood cell) become malignant (cancerous) and affect the skin. - Mycosis fungoides and the Szary syndrome are types of cutaneous T-cell lymphoma. - A sign of mycosis fungoides is a red rash on the skin. - In the Szary syndrome, cancerous T-cells are found in the blood. - Tests that examine the skin and blood are used to detect (find) and diagnose mycosis fungoides and the Szary syndrome. - Certain factors affect prognosis (chance of recovery) and treatment options.\n \n \n Mycosis fungoides and the Szary syndrome are diseases in which lymphocytes (a type of white blood cell) become malignant (cancerous) and affect the skin.\n Normally, the bone marrow makes blood stem cells (immature cells) that become mature blood stem cells over time. A blood stem cell may become a myeloid stem cell or a lymphoid stem cell. A myeloid stem cell becomes a red blood cell, white blood cell, or platelet. A lymphoid stem cell becomes a lymphoblast and then one of three types of lymphocytes (white blood cells): - B-cell lymphocytes that make antibodies to help fight infection. - T-cell lymphocytes that help B-lymphocytes make the antibodies that help fight infection. - Natural killer cells that attack cancer cells and viruses. In mycosis fungoides, T-cell lymphocytes become cancerous and affect the skin. In the Szary syndrome, cancerous T-cell lymphocytes affect the skin and are in the blood.\n \n \n Mycosis fungoides and the Szary syndrome are types of cutaneous T-cell lymphoma.\n Mycosis fungoides and the Szary syndrome are the two most common types of cutaneous T-cell lymphoma (a type of non-Hodgkin lymphoma). For information about other types of skin cancer or non-Hodgkin lymphoma, see the following PDQ summaries: - Adult Non-Hodgkin Lymphoma Treatment - Skin Cancer Treatment - Melanoma Treatment - Kaposi Sarcoma Treatment\n \n \n \n In the Szary syndrome, cancerous T-cells are found in the blood.\n Also, skin all over the body is reddened, itchy, peeling, and painful. There may also be patches, plaques, or tumors on the skin. It is not known if the Szary syndrome is an advanced form of mycosis fungoides or a separate disease.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for spondyloepimetaphyseal dysplasia, Strudwick type ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of spondyloepimetaphyseal dysplasia, Strudwick type: - Genetic Testing Registry: Spondyloepimetaphyseal dysplasia Strudwick type - MedlinePlus Encyclopedia: Clubfoot - MedlinePlus Encyclopedia: Retinal Detachment - MedlinePlus Encyclopedia: Scoliosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Hereditary lymphedema type II ?"}, {"role": "assistant", "content": "What causes hereditary lymphedema type II? The cause of hereditary lymphedema type II is unknown. The condition is thought to be genetic because it tends to run in families. Researchers have studied many genes associated with the lymphatic system; however, to date, no specific genetic change has been associated with this type of lymphedema.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) coloboma ?"}, {"role": "assistant", "content": "Coloboma is an eye abnormality that occurs before birth. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or gaps in one of several parts of the eye, including the colored part of the eye called the iris; the retina, which is the specialized light-sensitive tissue that lines the back of the eye; the blood vessel layer under the retina called the choroid; or the optic nerves, which carry information from the eyes to the brain. Colobomas may be present in one or both eyes and, depending on their size and location, can affect a person's vision. Colobomas affecting the iris, which result in a \"keyhole\" appearance of the pupil, generally do not lead to vision loss. Colobomas involving the retina result in vision loss in specific parts of the visual field, generally the upper part. Large retinal colobomas or those affecting the optic nerve can cause low vision, which means vision loss that cannot be completely corrected with glasses or contact lenses. Some people with coloboma also have a condition called microphthalmia. In this condition, one or both eyeballs are abnormally small. In some affected individuals, the eyeball may appear to be completely missing; however, even in these cases some remaining eye tissue is generally present. Such severe microphthalmia should be distinguished from another condition called anophthalmia, in which no eyeball forms at all. However, the terms anophthalmia and severe microphthalmia are often used interchangeably. Microphthalmia may or may not result in significant vision loss. People with coloboma may also have other eye abnormalities, including clouding of the lens of the eye (cataract), increased pressure inside the eye (glaucoma) that can damage the optic nerve, vision problems such as nearsightedness (myopia), involuntary back-and-forth eye movements (nystagmus), or separation of the retina from the back of the eye (retinal detachment). Some individuals have coloboma as part of a syndrome that affects other organs and tissues in the body. These forms of the condition are described as syndromic. When coloboma occurs by itself, it is described as nonsyndromic or isolated. Colobomas involving the eyeball should be distinguished from gaps that occur in the eyelids. While these eyelid gaps are also called colobomas, they arise from abnormalities in different structures during early development.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Meningitis and Encephalitis ?"}, {"role": "assistant", "content": "Anyone experiencing symptoms of meningitis or encephalitis should see a doctor immediately. Antibiotics for most types of meningitis can greatly reduce the risk of dying from the disease. Antiviral medications may be prescribed for viral encephalitis or other severe viral infections.Anticonvulsants are used to prevent or treat seizures. Corticosteroidd rugs can reduce brain swelling and inflammation. Over-the-counter medications may be used for fever and headache. Individuals with encephalitis or bacterial meningitis are usually hospitalized for treatment. Affected individuals with breathing difficulties may require artificial respiration.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) SADDAN ?"}, {"role": "assistant", "content": "SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans) is a rare disorder of bone growth characterized by skeletal, brain, and skin abnormalities. All people with this condition have extremely short stature with particularly short arms and legs. Other features include unusual bowing of the leg bones; a small chest with short ribs and curved collar bones; short, broad fingers; and folds of extra skin on the arms and legs. Structural abnormalities of the brain cause seizures, profound developmental delay, and intellectual disability. Several affected individuals also have had episodes in which their breathing slows or stops for short periods (apnea). Acanthosis nigricans, a progressive skin disorder characterized by thick, dark, velvety skin, is another characteristic feature of SADDAN that develops in infancy or early childhood.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to prevent Urinary Tract Infections ?"}, {"role": "assistant", "content": "Changing some of these daily habits may help prevent UTIs. - Wipe from front to back after using the toilet. Women should wipe from front to back to keep bacteria from getting into the urethra. This step is most important after a bowel movement. Wipe from front to back after using the toilet. Women should wipe from front to back to keep bacteria from getting into the urethra. This step is most important after a bowel movement. - Drink lots of fluid, especially water. Fluids can help flush bacteria from the urinary system. Water is best. Most healthy people should try to drink six to eight, 8-ounce glasses of fluid each day. (Some people need to drink less water because of certain conditions. For example, if you have kidney failure or heart disease, you should not drink this much fluid. Ask your health care provider how much fluid is healthy for you.) Drink lots of fluid, especially water. Fluids can help flush bacteria from the urinary system. Water is best. Most healthy people should try to drink six to eight, 8-ounce glasses of fluid each day. (Some people need to drink less water because of certain conditions. For example, if you have kidney failure or heart disease, you should not drink this much fluid. Ask your health care provider how much fluid is healthy for you.) - Urinate often and when the urge arises. Try to urinate at least every 3 to 4 hours. Bacteria are more likely to grow in the bladder when urine stays in the bladder too long. Urinate often and when the urge arises. Try to urinate at least every 3 to 4 hours. Bacteria are more likely to grow in the bladder when urine stays in the bladder too long. - Urinate after sex. Both women and men should urinate shortly after sex to flush away bacteria that may have entered the urethra during sex. Urinate after sex. Both women and men should urinate shortly after sex to flush away bacteria that may have entered the urethra during sex. - Wear cotton underwear and loose-fitting clothes. Wearing looser, cotton clothing will allow air to keep the area around the urethra dry. Tight-fitting jeans and nylon underwear should be avoided because they can trap moisture and help bacteria grow. Wear cotton underwear and loose-fitting clothes. Wearing looser, cotton clothing will allow air to keep the area around the urethra dry. Tight-fitting jeans and nylon underwear should be avoided because they can trap moisture and help bacteria grow. Drinking cranberry juice or taking cranberry supplements also may help prevent UTIs. Some studies have shown that cranberry products make UTIs less likely, especially in people who get UTIs often. But in other studies, cranberry products did not help.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes COPD ?"}, {"role": "assistant", "content": "Cigarette smoking is the most common cause of COPD. Most people with COPD are smokers or have been smokers in the past. Breathing in other fumes and dusts over long periods of time can also lead to COPD. Pipe, cigar, and other types of tobacco smoking can cause COPD, especially if the smoke is inhaled. Exposure to secondhand smoke can play a role in causing COPD. Most people with COPD are at least 40 years old or around middle age when symptoms start.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Microscopic Colitis: Collagenous Colitis and Lymphocytic Colitis ?"}, {"role": "assistant", "content": "The exact cause of microscopic colitis is unknown. Several factors may play a role in causing microscopic colitis. However, most scientists believe that microscopic colitis results from an abnormal immune-system response to bacteria that normally live in the colon. Scientists have proposed other causes, including\n \n- autoimmune diseases - medications - infections - genetic factors - bile acid malabsorption\n \nAutoimmune Diseases\n \nSometimes people with microscopic colitis also have autoimmune diseasesdisorders in which the bodys immune system attacks the bodys own cells and organs. Autoimmune diseases associated with microscopic colitis include\n \n- celiac diseasea condition in which people cannot tolerate gluten because it damages the lining of the small intestine and prevents absorption of nutrients. Gluten is a protein found in wheat, rye, and barley. - thyroid diseases such as - Hashimotos diseasea form of chronic, or long lasting, inflammation of the thyroid. - Graves diseasea disease that causes hyperthyroidism. Hyperthyroidism is a disorder that occurs when the thyroid gland makes more thyroid hormone than the body needs. - rheumatoid arthritisa disease that causes pain, swelling, stiffness, and loss of function in the joints when the immune system attacks the membrane lining the joints. - psoriasisa skin disease that causes thick, red skin with flaky, silver-white patches called scales.\n \nMore information is provided in the NIDDK health topics:\n \n- Celiac Disease - Hashimotos Disease - Graves Disease\n \nMedications\n \nResearchers have not found that medications cause microscopic colitis. However, they have found links between microscopic colitis and certain medications, most commonly\n \n- nonsteroidal anti-inflammatory drugs such as aspirin, ibuprofen, and naproxen - lansoprazole (Prevacid) - acarbose (Prandase, Precose) - ranitidine (Tritec, Zantac) - sertraline (Zoloft) - ticlopidine (Ticlid)\n \nOther medications linked to microscopic colitis include\n \n- carbamazepine - clozapine (Clozaril, FazaClo) - dexlansoprazole (Kapidex, Dexilant) - entacapone (Comtan) - esomeprazole (Nexium) - flutamide (Eulexin) - lisinopril (Prinivil, Zestril) - omeprazole (Prilosec) - pantoprazole (Protonix) - paroxetine (Paxil, Pexeva) - rabeprazole (AcipHex) - simvastatin (Zocor) - vinorelbine (Navelbine)\n \nInfections\n \nBacteria. Some people get microscopic colitis after an infection with certain harmful bacteria. Harmful bacteria may produce toxins that irritate the lining of the colon.\n \nViruses. Some scientists believe that viral infections that cause inflammation in the GI tract may play a role in causing microscopic colitis.\n \nGenetic Factors\n \nSome scientists believe that genetic factors may play a role in microscopic colitis. Although researchers have not yet found a gene unique to microscopic colitis, scientists have linked dozens of genes to other types of inflammatory bowel disease, including\n \n- Crohns diseasea disorder that causes inflammation and irritation of any part of the GI tract - ulcerative colitisa chronic disease that causes inflammation and ulcers in the inner lining of the large intestine\n \nMore information is provided in the NIDDK health topics:\n \n- Crohns Disease - Ulcerative Colitis\n \nBile Acid Malabsorption\n \nSome scientists believe that bile acid malabsorption plays a role in microscopic colitis. Bile acid malabsorption is the intestines inability to completely reabsorb bile acidsacids made by the liver that work with bile to break down fats. Bile is a fluid made by the liver that carries toxins and waste products out of the body and helps the body digest fats. Bile acids that reach the colon can lead to diarrhea.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Juvenile Arthritis ?"}, {"role": "assistant", "content": "Juvenile arthritis (JA) is arthritis that happens in children. It causes joint swelling, pain, stiffness, and loss of motion. It can affect any joint, but is more common in the knees, hands, and feet. In some cases it can affect internal organs as well. The most common type of JA that children get is juvenile idiopathic arthritis. There are several other forms of arthritis affecting children. One early sign of JA may be limping in the morning. Symptoms can come and go. Some children have just one or two flare-ups. Others have symptoms that never go away. JA can cause growth problems and eye inflammation in some children. No one knows exactly what causes JA. Most types are autoimmune disorders. This means that your immune system, which normally helps your body fight infection, attacks your body's own tissues. JA can be hard to diagnose. Your health care provider may do a physical exam, lab tests, and x-rays. A team of providers usually treats JA. Medicines and physical therapy can help maintain movement and reduce swelling and pain. They may also help prevent and treat complications. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Anencephaly ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Anencephaly? The Human Phenotype Ontology provides the following list of signs and symptoms for Anencephaly. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anencephaly 90% Primary adrenal insufficiency 90% Spina bifida - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is microcephalic osteodysplastic primordial dwarfism type II inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Chronic Fatigue Syndrome (CFS) ?"}, {"role": "assistant", "content": "Chronic fatigue syndrome can be misdiagnosed or overlooked because its symptoms are similar to so many other illnesses. Fatigue, for instance, can be a symptom for hundreds of illnesses. Looking closer at the nature of the symptoms though, can help a doctor distinguish CFS from other illnesses.\n Primary Symptoms\n \nAs the name chronic fatigue syndrome suggests, fatigue is one part of this illness. With CFS, however, the fatigue is accompanied by other symptoms. In addition, the fatigue is not the kind you might feel after a particularly busy day or week, after a sleepless night, or after a single stressful event. It's a severe, incapacitating fatigue that isn't improved by bed rest and that is often worsened by physical activity or mental exertion. It's an all-encompassing fatigue that can dramatically reduce a person's activity level and stamina.\n \nPeople with CFS function at a significantly lower level of activity than they were capable of before they became ill. The illness results in a substantial reduction in work-related, personal, social, and educational activities.\n \nThe fatigue of CFS is accompanied by characteristic illness symptoms lasting at least 6 months. These symptoms include:\n \n - increased malaise (extreme exhaustion and sickness) following physical activity or mental exertion\n - problems with sleep\n - difficulties with memory and concentration\n - persistent muscle pain\n - joint pain (without redness or swelling)\n - headache\n - tender lymph nodes in the neck or armpit\n - sore throat\n \n Other Symptoms\n \nThe symptoms listed above are the symptoms used to diagnose CFS. However, many CFS patients and patients in general may experience other symptoms, including:\n \n - brain fog (feeling like you're in a mental fog)\n - difficulty maintaining an upright position, dizziness, balance problems or fainting\n - allergies or sensitivities to foods, odors, chemicals, medications, or noise\n - irritable bowel\n - chills and night sweats\n - visual disturbances (sensitivity to light, blurring, eye pain)\n - depression or mood problems (irritability, mood swings, anxiety, panic attacks)\n \n \nIt's important to tell your health care professional if you're experiencing any of these symptoms. You might have CFS, or you might have another treatable disorder. Only a health care professional can diagnose CFS.\n What's the Clinical Course of CFS?\n \nThe severity of CFS varies from patient to patient. Some people can maintain fairly active lives. For most patients, however, CFS significantly limits their work, school, and family activities for periods of time.\n \nWhile symptoms vary from person to person in number, type, and severity, all CFS patients are limited in what they can do to some degree. CDC studies show that CFS can be as disabling as multiple sclerosis, lupus, rheumatoid arthritis, heart disease, end-stage renal disease, chronic obstructive pulmonary disease (COPD), and similar chronic conditions.\n \nCFS often affects patients in cycles: Patients will have periods of illness followed by periods of relative well-being. For some patients, symptoms may diminish or even go into complete remission; however, they often recur at a later point in time. This pattern of remission and relapse makes CFS especially hard for patients to manage. Patients who are in remission may be tempted to overdo activities when they're feeling better, but this overexertion may actually contribute to a relapse.\n \nThe percentage of CFS patients who recover is unknown, but there is some evidence to indicate that patients benefit when accompanying conditions are identified and treated and when symptoms are managed. High-quality health care is important.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is esophageal atresia/tracheoesophageal fistula inherited ?"}, {"role": "assistant", "content": "When EA/TEF occurs as a feature of a genetic syndrome or chromosomal abnormality, it may cluster in families according to the inheritance pattern for that condition. Often EA/TEF is not inherited, and there is only one affected individual in a family.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) capillary malformation-arteriovenous malformation syndrome ?"}, {"role": "assistant", "content": "Capillary malformation-arteriovenous malformation syndrome (CM-AVM) is a disorder of the vascular system, which is the body's complex network of blood vessels. The vascular system consists of arteries, which carry oxygen-rich blood from the heart to the body's various organs and tissues; veins, which carry blood back to the heart; and capillaries, which are tiny blood vessels that connect arteries and veins. CM-AVM is characterized by capillary malformations (CMs), which are composed of enlarged capillaries that increase blood flow near the surface of the skin. These malformations look like multiple small, round, pink or red spots on the skin. In most affected individuals, capillary malformations occur on the face, arms, and legs. These spots may be visible from birth or may develop during childhood. By themselves, capillary malformations usually do not cause any health problems. In some people with CM-AVM, capillary malformations are the only sign of the disorder. However, other affected individuals also have more serious vascular abnormalities known as arteriovenous malformations (AVMs) and arteriovenous fistulas (AVFs). AVMs and AVFs are abnormal connections between arteries, veins, and capillaries that affect blood circulation. Depending on where they occur in the body, these abnormalities can be associated with complications including abnormal bleeding, migraine headaches, seizures, and heart failure. In some cases the complications can be life-threatening. In people with CM-AVM, complications of AVMs and AVFs tend to appear in infancy or early childhood; however, some of these vascular abnormalities never cause any symptoms. Some vascular abnormalities seen in CM-AVM are similar to those that occur in a condition called Parkes Weber syndrome. In addition to vascular abnormalities, Parkes Weber syndrome usually involves overgrowth of one limb. CM-AVM and some cases of Parkes Weber syndrome have the same genetic cause.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Do you have information about Health Occupations"}, {"role": "assistant", "content": "Summary : Every day, around the clock, people who work in the health care industry provide care for millions of people, from newborns to the very ill. In fact, the health care industry is one of largest providers of jobs in the United States. Many health jobs are in hospitals. Others are in nursing homes, doctors' offices, dentists' offices, outpatient clinics and laboratories. To work in a health occupation, you often must have special training. Some, like doctors, must have more than 4 years of college. Bureau of Labor Statistics", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to X-linked thrombocytopenia ?"}, {"role": "assistant", "content": "Mutations in the WAS gene cause X-linked thrombocytopenia. The WAS gene provides instructions for making a protein called WASP. This protein is found in all blood cells. WASP is involved in relaying signals from the surface of blood cells to the actin cytoskeleton, which is a network of fibers that make up the cell's structural framework. WASP signaling activates the cell when it is needed and triggers its movement and attachment to other cells and tissues (adhesion). In white blood cells, which protect the body from infection, this signaling allows the actin cytoskeleton to establish the interaction between cells and the foreign invaders that they target (immune synapse). WAS gene mutations that cause X-linked thrombocytopenia typically lead to the production of an altered protein. The altered WASP has reduced function and cannot efficiently relay signals from the cell membrane to the actin cytoskeleton. In people with X-linked thrombocytopenia, these signaling problems primarily affect platelets, impairing their development. In some cases, white blood cells are affected. When WASP function is impaired in white blood cells, they are less able to respond to foreign invaders and immune problems such as infections, eczema, and autoimmune disorders can occur.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to juvenile idiopathic arthritis ?"}, {"role": "assistant", "content": "Juvenile idiopathic arthritis is thought to arise from a combination of genetic and environmental factors. The term \"idiopathic\" indicates that the specific cause of the disorder is unknown. Its signs and symptoms result from excessive inflammation in and around the joints. Inflammation occurs when the immune system sends signaling molecules and white blood cells to a site of injury or disease to fight microbial invaders and facilitate tissue repair. Normally, the body stops the inflammatory response after healing is complete to prevent damage to its own cells and tissues. In people with juvenile idiopathic arthritis, the inflammatory response is prolonged, particularly during movement of the joints. The reasons for this excessive inflammatory response are unclear. Researchers have identified changes in several genes that may influence the risk of developing juvenile idiopathic arthritis. Many of these genes belong to a family of genes that provide instructions for making a group of related proteins called the human leukocyte antigen (HLA) complex. The HLA complex helps the immune system distinguish the body's own proteins from proteins made by foreign invaders (such as viruses and bacteria). Each HLA gene has many different normal variations, allowing each person's immune system to react to a wide range of foreign proteins. Certain normal variations of several HLA genes seem to affect the risk of developing juvenile idiopathic arthritis, and the specific type of the condition that a person may have. Normal variations in several other genes have also been associated with juvenile idiopathic arthritis. Many of these genes are thought to play roles in immune system function. Additional unknown genetic influences and environmental factors, such as infection and other issues that affect immune health, are also likely to influence a person's chances of developing this complex disorder.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Hereditary fructose intolerance ?"}, {"role": "assistant", "content": "What causes hereditary fructose intolerance (HFI)? HFI is caused by alterations (mutations) in the ALDOB gene. This gene provides instructions for making an enzyme called aldolase B. This enzyme is primarily found in the liver and is involved in the breakdown of fructose into energy. Mutations in the ALDOB gene reduce the function of the enzyme, impairing its ability to metabolize fructose. This causes a toxic buildup of fructose-1-phosphate in liver cells, which results in the death of liver cells over time.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Congenital adrenal hyperplasia inherited ?"}, {"role": "assistant", "content": "How is congenital adrenal hyperplasia inherited? All forms of congenital adrenal hyperplasia (CAH) are inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What to do for High Blood Pressure and Kidney Disease ?"}, {"role": "assistant", "content": "Following a healthy eating plan can help lower blood pressure. A health care provider may recommend the Dietary Approaches to Stop Hypertension (DASH) eating plan. DASH focuses on fruits, vegetables, whole grains, and other foods that are heart healthy and lower in sodium, which often comes from salt. The DASH eating plan\n \n- is low in fat and cholesterol - features fat-free or low-fat milk and dairy products, fish, poultry, and nuts - suggests less red meat, sweets, added sugars, and sugar-containing beverages - is rich in nutrients, protein, and fiber\n \nRead more about DASH at www.nhlbi.nih.gov/health/resources/heart/hbp-dash-index.htm.\n \nA dietitian may also recommend this type of diet for people who have already developed kidney disease. A diet low in sodium and liquid intake can help reduce edema and lower blood pressure. Reducing saturated fat and cholesterol can help control high levels of lipids, or fats, in the blood.\n \nHealth care providers may recommend that people with kidney disease eat moderate or reduced amounts of protein, though the benefits of reducing protein in a persons diet is still being researched. Proteins break down into waste products that the kidneys filter from the blood. Eating more protein than the body needs may burden the kidneys and cause kidney function to decline faster. However, protein intake that is too low may lead to malnutrition, a condition that occurs when the body does not get enough nutrients. People with kidney disease who are on a restricted protein diet should be monitored with blood tests that can show low nutrient levels.\n \nIn addition, consuming too much alcohol raises blood pressure, so people should limit alcoholic drinkstwo per day for men and one per day for women.\n \nA health care provider can help people change their diet to meet their individual needs.\n \nPhysical Activity\n \nRegular physical activity can lower blood pressure and reduce the chances of other health problems. A health care provider can provide information about how much and what kinds of activity are safe. Most people should try to get at least 30 to 60 minutes of activity most or all days of the week. A person can do all physical activity at once or break up activities into shorter periods of at least 10 minutes each. Moderate activities include brisk walking, dancing, bowling, riding a bike, working in a garden, and cleaning the house.\n \nBody Weight\n \nPeople who are overweight or obese should aim to reduce their weight by 7 to 10 percent during the first year of treatment for high blood pressure. This amount of weight loss can lower the chance of health problems related to high blood pressure. Overweight is defined as a body mass index (BMI)a measurement of weight in relation to heightof 25 to 29. A BMI of 30 or higher is considered obese. A BMI lower than 25 is the goal for keeping blood pressure under control.5\n \nSmoking\n \nPeople who smoke should quit. Smoking can damage blood vessels, raise the chance of high blood pressure, and worsen health problems related to high blood pressure. People with high blood pressure should talk with their health care provider about programs and products they can use to quit smoking.\n \nStress\n \nLearning how to manage stress, relax, and cope with problems can improve emotional and physical health. Some activities that may help reduce stress include\n \n- exercising - practicing yoga or tai chi - listening to music - focusing on something calm or peaceful - meditating", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Caudal appendage deafness ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Caudal appendage deafness? The Human Phenotype Ontology provides the following list of signs and symptoms for Caudal appendage deafness. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the pinna 90% Conductive hearing impairment 90% Epicanthus 90% Hydrocephalus 90% Hypoplasia of penis 90% Long palpebral fissure 90% Microcephaly 90% Short stature 90% Triangular face 90% Abnormality of the ribs 50% Abnormality of the testis 50% Astigmatism 50% Delayed skeletal maturation 50% Deviation of finger 50% Hypermetropia 50% Nystagmus 50% Premature birth 50% Respiratory insufficiency 50% Symphalangism affecting the phalanges of the hand 50% Wide mouth 50% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Age-related Macular Degeneration ?"}, {"role": "assistant", "content": "Wet AMD occurs when abnormal blood vessels behind the retina start to grow under the macula. With wet AMD, loss of central vision can occur quickly. Wet AMD is considered to be advanced AMD and is more severe than the dry form.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Anencephaly ?"}, {"role": "assistant", "content": "There is no cure or standard treatment for anencephaly. Treatment is supportive.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is potassium-aggravated myotonia inherited ?"}, {"role": "assistant", "content": "Potassium-aggravated myotonia is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits a mutation in the SCN4A gene from one affected parent. Other cases result from new mutations in the gene. These cases occur in people with no history of the disorder in their family.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Oculopharyngeal muscular dystrophy ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Oculopharyngeal muscular dystrophy? There are many signs and symptoms of oculopharyngeal muscular dystrophy (OPMD), although the specific symptoms and age of onset varies among affected individuals. Most people show one or more symptoms by the age of 70. The most common symptoms of OPMD include: Muscle weakness (also known as myopathy) Droopy eyelids (also known as ptosis) Difficulty swallowing (also known as dysphagia) Double vision Tongue weakness Upper and/or lower body weakness Weakness of the muscles in the face Voice disorders (in about half of people with this condition) The Human Phenotype Ontology provides the following list of signs and symptoms for Oculopharyngeal muscular dystrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the pharynx 90% Myopathy 90% Ophthalmoparesis 90% Ptosis 90% Skeletal muscle atrophy 90% Mask-like facies 7.5% Adult onset - Autosomal dominant inheritance - Distal muscle weakness - Dysarthria - Dysphagia - Facial palsy - Gait disturbance - Limb muscle weakness - Neck muscle weakness - Progressive - Progressive ptosis - Proximal muscle weakness - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Leber congenital amaurosis 10 ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Leber congenital amaurosis 10? The Human Phenotype Ontology provides the following list of signs and symptoms for Leber congenital amaurosis 10. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Seizures 2/4 Autosomal recessive inheritance - Hyposmia - Visual impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) MPV17-related hepatocerebral mitochondrial DNA depletion syndrome ?"}, {"role": "assistant", "content": "MPV17-related hepatocerebral mitochondrial DNA depletion syndrome is an inherited disorder that can cause liver disease and neurological problems. The signs and symptoms of this condition begin in infancy and typically include vomiting, diarrhea, and an inability to grow or gain weight at the expected rate (failure to thrive). Many affected infants have a buildup of a chemical called lactic acid in the body (lactic acidosis) and low blood sugar (hypoglycemia). Within the first weeks of life, infants develop liver disease that quickly progresses to liver failure. The liver is frequently enlarged (hepatomegaly) and liver cells often have a reduced ability to release a digestive fluid called bile (cholestasis). Rarely, affected children develop liver cancer. After the onset of liver disease, many affected infants develop neurological problems, which can include developmental delay, weak muscle tone (hypotonia), and reduced sensation in the limbs (peripheral neuropathy). Individuals with MPV17-related hepatocerebral mitochondrial DNA depletion syndrome typically survive only into infancy or early childhood. MPV17-related hepatocerebral mitochondrial DNA depletion syndrome is most frequently seen in the Navajo population of the southwestern United States. In this population, the condition is known as Navajo neurohepatopathy. People with Navajo neurohepatopathy tend to have a longer life expectancy than those with MPV17-related hepatocerebral mitochondrial DNA depletion syndrome. In addition to the signs and symptoms described above, people with Navajo neurohepatopathy may have problems with sensing pain that can lead to painless bone fractures and self-mutilation of the fingers or toes. Individuals with Navajo neurohepatopathy may lack feeling in the clear front covering of the eye (corneal anesthesia), which can lead to open sores and scarring on the cornea, resulting in impaired vision. The cause of these additional features is unknown.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) multiple endocrine neoplasia ?"}, {"role": "assistant", "content": "Multiple endocrine neoplasia is a group of disorders that affect the body's network of hormone-producing glands (the endocrine system). Hormones are chemical messengers that travel through the bloodstream and regulate the function of cells and tissues throughout the body. Multiple endocrine neoplasia typically involves tumors (neoplasia) in at least two endocrine glands; tumors can also develop in other organs and tissues. These growths can be noncancerous (benign) or cancerous (malignant). If the tumors become cancerous, the condition can be life-threatening. The major forms of multiple endocrine neoplasia are called type 1, type 2, and type 4. These types are distinguished by the genes involved, the types of hormones made, and the characteristic signs and symptoms. Many different types of tumors are associated with multiple endocrine neoplasia. Type 1 frequently involves tumors of the parathyroid glands, the pituitary gland, and the pancreas. Tumors in these glands can lead to the overproduction of hormones. The most common sign of multiple endocrine neoplasia type 1 is overactivity of the parathyroid glands (hyperparathyroidism). Hyperparathyroidism disrupts the normal balance of calcium in the blood, which can lead to kidney stones, thinning of bones, nausea and vomiting, high blood pressure (hypertension), weakness, and fatigue. The most common sign of multiple endocrine neoplasia type 2 is a form of thyroid cancer called medullary thyroid carcinoma. Some people with this disorder also develop a pheochromocytoma, which is an adrenal gland tumor that can cause dangerously high blood pressure. Multiple endocrine neoplasia type 2 is divided into three subtypes: type 2A, type 2B (formerly called type 3), and familial medullary thyroid carcinoma (FMTC). These subtypes differ in their characteristic signs and symptoms and risk of specific tumors; for example, hyperparathyroidism occurs only in type 2A, and medullary thyroid carcinoma is the only feature of FMTC. The signs and symptoms of multiple endocrine neoplasia type 2 are relatively consistent within any one family. Multiple endocrine neoplasia type 4 appears to have signs and symptoms similar to those of type 1, although it is caused by mutations in a different gene. Hyperparathyroidism is the most common feature, followed by tumors of the pituitary gland, additional endocrine glands, and other organs.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Severe congenital neutropenia autosomal dominant ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Severe congenital neutropenia autosomal dominant? The Human Phenotype Ontology provides the following list of signs and symptoms for Severe congenital neutropenia autosomal dominant. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Acute monocytic leukemia - Anemia - Autosomal dominant inheritance - Autosomal recessive inheritance - Congenital agranulocytosis - Eosinophilia - Growth abnormality - Increased antibody level in blood - Infantile onset - Monocytosis - Neutropenia - Recurrent bacterial infections - Thrombocytosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of X-linked hypophosphatemia ?"}, {"role": "assistant", "content": "What are the signs and symptoms of X-linked hypophosphatemia? Symptoms of X-linked hypophosphatemia (XLH) usually begin in early childhood, though severity varies case by case. Early signs include skeletal abnormalities such as noticeably bowed or bent legs, short stature, and irregular growth of the skull. Overtime, symptoms may progress to include bone pain, joint pain caused by the calcification of tendons and ligaments, and spontaneous dental abscesses. Some people with XLH may also experience hearing loss, though this is highly variable and appears to be rare. The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked hypophosphatemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of dental enamel 90% Abnormality of the metaphyses 90% Bone pain 90% Genu varum 90% Premature loss of teeth 90% Craniofacial hyperostosis 50% Enthesitis 50% Osteoarthritis 50% Short stature 50% Hearing impairment 7.5% Recurrent fractures 7.5% Abnormality of pelvic girdle bone morphology - Arthralgia - Bowing of the legs - Elevated alkaline phosphatase - Elevated circulating parathyroid hormone (PTH) level - Femoral bowing - Fibular bowing - Flattening of the talar dome - Frontal bossing - Hypomineralization of enamel - Hypophosphatemia - Hypophosphatemic rickets - Metaphyseal irregularity - Osteomalacia - Phenotypic variability - Renal phosphate wasting - Renal tubular dysfunction - Shortening of the talar neck - Spinal canal stenosis - Spinal cord compression - Tibial bowing - Trapezoidal distal femoral condyles - X-linked dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for renal tubular acidosis with deafness ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of renal tubular acidosis with deafness: - Genetic Testing Registry: Renal tubular acidosis with progressive nerve deafness - MedlinePlus Encyclopedia: Audiometry - MedlinePlus Encyclopedia: Kidney Function Tests These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Do you have information about Indoor Air Pollution"}, {"role": "assistant", "content": "Summary : We usually think of air pollution as being outdoors, but the air in your house or office could also be polluted. Sources of indoor pollution include - Mold and pollen - Tobacco smoke - Household products and pesticides - Gases such as radon and carbon monoxide - Materials used in the building such as asbestos, formaldehyde and lead Sometimes a group of people have symptoms that seem to be linked to time spent in a certain building. There may be a specific cause, such as Legionnaire's disease. Sometimes the cause of the illness cannot be found. This is known as sick building syndrome. Usually indoor air quality problems only cause discomfort. Most people feel better as soon as they remove the source of the pollution. However, some pollutants can cause diseases that show up much later, such as respiratory diseases or cancer. Making sure that your building is well-ventilated and getting rid of pollutants can improve the quality of your indoor air. Environmental Protection Agency", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is the outlook for Piriformis Syndrome ?"}, {"role": "assistant", "content": "The prognosis for most individuals with piriformis syndrome is good. Once symptoms of the disorder are addressed, individuals can usually resume their normal activities. In some cases, exercise regimens may need to be modified in order to reduce the likelihood of recurrence or worsening.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is 3-Hydroxyisobutyric aciduria inherited ?"}, {"role": "assistant", "content": "Is 3-hydroxyisobutyric aciduria inherited? Cases of 3-hydroxyisobutyric aciduria thought to be caused by changes (mutations) in the ALDH6A1 gene are inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Sturge-Weber Syndrome ?"}, {"role": "assistant", "content": "Treatment for Sturge-Weber syndrome is symptomatic. Laser treatment may be used to lighten or remove the birthmark. Anticonvulsant medications may be used to control seizures. Persons with drug-resistant seizures may be treated by surgical removal of epileptic brain tissue. Surgery may be performed on more serious cases of glaucoma. Physical therapy should be considered for infants and children with muscle weakness. Educational therapy is often prescribed for those with impaired cognition or developmental delays. Doctors recommend yearly monitoring for glaucoma.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Gout ?"}, {"role": "assistant", "content": "Gout is a common, painful form of arthritis. It causes swollen, red, hot and stiff joints. Gout happens when uric acid builds up in your body. Uric acid comes from the breakdown of substances called purines. Purines are in your body's tissues and in foods, such as liver, dried beans and peas, and anchovies. Normally, uric acid dissolves in the blood. It passes through the kidneys and out of the body in urine. But sometimes uric acid can build up and form needle-like crystals. When they form in your joints, it is very painful. The crystals can also cause kidney stones. Often, gout first attacks your big toe. It can also attack ankles, heels, knees, wrists, fingers, and elbows. At first, gout attacks usually get better in days. Eventually, attacks last longer and happen more often. You are more likely to get gout if you - Are a man - Have family member with gout - Are overweight - Drink alcohol - Eat too many foods rich in purines Gout can be hard to diagnose. Your doctor may take a sample of fluid from an inflamed joint to look for crystals. You can treat gout with medicines. Pseudogout has similar symptoms and is sometimes confused with gout. However, it is caused by calcium phosphate, not uric acid. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is the outlook for Adult Central Nervous System Tumors ?"}, {"role": "assistant", "content": "Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options for primary brain and spinal cord tumors depend on the following: - The type and grade of the tumor. - Where the tumor is in the brain or spinal cord. - Whether the tumor can be removed by surgery. - Whether cancer cells remain after surgery. - Whether there are certain changes in the chromosomes. - Whether the cancer has just been diagnosed or has recurred (come back). - The patient's general health. The prognosis and treatment options for metastatic brain and spinal cord tumors depend on the following: - Whether there are more than two tumors in the brain or spinal cord. - Where the tumor is in the brain or spinal cord. - How well the tumor responds to treatment. - Whether the primary tumor continues to grow or spread.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes What I need to know about Kidney Stones ?"}, {"role": "assistant", "content": "Kidney stones are caused by high levels of calcium, oxalate, and phosphorus in the urine. Some foods may cause kidney stones in certain people. You may be more likely to get a kidney stone if you have\n \n- a condition that affects levels of substances in your urine that can cause stones to form - a family history of kidney stones - repeating, or recurrent, urinary tract infections - blockage of your urinary tract - digestive problems\n \nYou may also be more likely to get a kidney stone if you dont drink enough fluids or if you take certain medicines.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for ataxia with oculomotor apraxia ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of ataxia with oculomotor apraxia: - Gene Review: Gene Review: Ataxia with Oculomotor Apraxia Type 1 - Gene Review: Gene Review: Ataxia with Oculomotor Apraxia Type 2 - Genetic Testing Registry: Adult onset ataxia with oculomotor apraxia - Genetic Testing Registry: Ataxia-oculomotor apraxia 3 - Genetic Testing Registry: Ataxia-oculomotor apraxia 4 - Genetic Testing Registry: Spinocerebellar ataxia autosomal recessive 1 - MedlinePlus Encyclopedia: Apraxia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Corticobasal Degeneration ?"}, {"role": "assistant", "content": "Corticobasal degeneration is a progressive neurological disorder characterized by nerve cell loss and atrophy (shrinkage) of multiple areas of the brain including the cerebral cortex and the basal ganglia. Corticobasal degeneration progresses gradually. Initial symptoms, which typically begin at or around age 60, may first appear on one side of the body (unilateral), but eventually affect both sides as the disease progresses. Symptoms are similar to those found in Parkinson disease, such as poor coordination, akinesia (an absence of movements), rigidity (a resistance to imposed movement), disequilibrium (impaired balance); and limb dystonia (abnormal muscle postures). Other symptoms such as cognitive and visual-spatial impairments, apraxia (loss of the ability to make familiar, purposeful movements), hesitant and halting speech, myoclonus (muscular jerks), and dysphagia (difficulty swallowing) may also occur. An individual with corticobasal degeneration eventually becomes unable to walk.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "what research (or clinical trials) is being done for Tuberous Sclerosis ?"}, {"role": "assistant", "content": "The National Institute of Neurological Disorders and Stroke (NINDS) conducts TSC research in its laboratories at the National Institutes of Health (NIH) and also supports TSC research through grants to major medical institutions across the country. Scientists in one study are learning more about the genes that can cause TSC and the function of the proteins those genes produce. Another study focuses on two major brain disorders --autism and epilepsy -- that occur in children with TSC. Other scientists are trying to determine what causes skin tumors to develop in individuals with TSC and to find the molecular basis of these tumors. Scientists hope knowledge gained from their current research will improve the genetic test for TSC and lead to new avenues of treatment, methods of prevention, and, ultimately, a cure.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Deafness, dystonia, and cerebral hypomyelination ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Deafness, dystonia, and cerebral hypomyelination ? The Human Phenotype Ontology provides the following list of signs and symptoms for Deafness, dystonia, and cerebral hypomyelination . If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Optic atrophy 5% Seizures 5% Abnormal facial shape - Abnormal pyramidal signs - Cerebellar atrophy - Cerebral atrophy - Cerebral hypomyelination - CNS hypomyelination - Dystonia - Failure to thrive - Intellectual disability - Microcephaly - Sensorineural hearing impairment - Strabismus - Tetraplegia - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Atherosclerosis ?"}, {"role": "assistant", "content": "Espaol\n \nAtherosclerosis is a disease in which plaque builds up inside your arteries. Arteries are blood vessels that carry oxygen-rich blood to your heart and other parts of your body.\n \nPlaque is made up of fat, cholesterol, calcium, and other substances found in the blood. Over time, plaque hardens and narrows your arteries. This limits the flow of oxygen-rich blood to your organs and other parts of your body.\n \nAtherosclerosis can lead to serious problems, including heart attack, stroke, or even death.\n \nAtherosclerosis\n \n\n \nAtherosclerosis-Related Diseases\n \nAtherosclerosis can affect any artery in the body, including arteries in the heart, brain, arms, legs, pelvis, and kidneys. As a result, different diseases may develop based on which arteries are affected.\n \nCoronary Heart Disease\n \nCoronary heart disease (CHD), also called coronary artery disease, occurs when plaque builds up in the coronary arteries. These arteries supply oxygen-rich blood to your heart.\n \nPlaque narrows the coronary arteries and reduces blood flow to your heart muscle. Plaque buildup also makes it more likely that blood clots will form in your arteries. Blood clots can partially or completely block blood flow.\n \nIf blood flow to your heart muscle is reduced or blocked, you may have angina (chest pain or discomfort) or a heart attack.\n \nPlaque also can form in the heart's smallest arteries. This disease is called coronary microvascular disease (MVD). In coronary MVD, plaque doesn't cause blockages in the arteries as it does in CHD.\n \nCarotid Artery Disease\n \nCarotid (ka-ROT-id) artery disease occurs if plaque builds up in the arteries on each side of your neck (the carotid arteries). These arteries supply oxygen-rich blood to your brain. If blood flow to your brain is reduced or blocked, you may have a stroke.\n \nPeripheral Artery Disease\n \nPeripheral artery disease (P.A.D.) occurs if plaque builds up in the major arteries that supply oxygen-rich blood to your legs, arms, and pelvis.\n \nIf blood flow to these parts of your body is reduced or blocked, you may have numbness, pain, and, sometimes, dangerous infections.\n \nChronic Kidney Disease\n \nChronic kidney disease can occur if plaque builds up in the renal arteries. These arteries supply oxygen-rich blood to your kidneys.\n \nOver time, chronic kidney disease causes a slow loss of kidney function. The main function of the kidneys is to remove waste and extra water from the body.\n \nOverview\n \nThe cause of atherosclerosis isn't known. However, certain traits, conditions, or habits may raise your risk for the disease. These conditions are known as risk factors.\n \nYou can control some risk factors, such as lack of physical activity, smoking, and an unhealthy diet. Others you can't control, such as age and a family history of heart disease.\n \nSome people who have atherosclerosis have no signs or symptoms. They may not be diagnosed until after a heart attack or stroke.\n \nThe main treatment for atherosclerosis is lifestyle changes. You also may need medicines and medical procedures. These treatments, along with ongoing medical care, can help you live a healthier life.\n \nOutlook\n \nImproved treatments have reduced the number of deaths from atherosclerosis-related diseases. These treatments also have improved the quality of life for people who have these diseases. However, atherosclerosis remains a common health problem.\n \nYou may be able to prevent or delay atherosclerosis and the diseases it can cause. Making lifestyle changes and getting ongoing care can help you avoid the problems of atherosclerosis and live a long, healthy life.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Adrenal Insufficiency and Addison's Disease ?"}, {"role": "assistant", "content": "After Addisons disease is diagnosed, health care providers may use the following tests to look at the adrenal glands, find out whether the disease is related to TB, or identify antibodies associated with autoimmune Addisons disease.\n \n- Ultrasound of the abdomen. Ultrasound uses a device, called a transducer, that bounces safe, painless sound waves off organs to create an image of their structure. A specially trained technician performs the procedure in a health care providers office, an outpatient center, or a hospital, and a radiologista doctor who specializes in medical imaginginterprets the images; a patient does not need anesthesia. The images can show abnormalities in the adrenal glands, such as enlargement or small size, nodules, or signs of calcium deposits, which may indicate bleeding. - Tuberculin skin test. A tuberculin skin test measures how a patients immune system reacts to the bacteria that cause TB. A small needle is used to put some testing material, called tuberculin, under the skin. A nurse or lab technician performs the test in a health care providers office; a patient does not need anesthesia. In 2 to 3 days, the patient returns to the health care provider, who will check to see if the patient had a reaction to the test. The test can show if adrenal insufficiency could be related to TB. To test whether a person has TB infection, which is when TB bacteria live in the body without making the person sick, a special TB blood test is used. To test whether a person has TB disease, which is when TB bacteria are actively attacking a persons lungs and making the person sick, other tests such as a chest x ray and a sample of sputumphlegm that is coughed up from deep in the lungsmay be needed. - Antibody blood tests. A blood test involves drawing blood at a health care providers office or a commercial facility and sending the sample to a lab for analysis. The blood test can detect antibodiesproteins made by the immune system to protect the body from foreign substancesassociated with autoimmune Addisons disease.\n \nAfter secondary adrenal insufficiency is diagnosed, health care providers may use the following tests to obtain a detailed view of the pituitary gland and assess how it is functioning:\n \n- Computerized tomography (CT) scan. CT scans use a combination of x rays and computer technology to create images. For a CT scan, the patient may be given a solution to drink and an injection of a special dye, called contrast medium. CT scans require the patient to lie on a table that slides into a tunnel-shaped device where the x rays are taken. An x-ray technician performs the procedure in an outpatient center or a hospital, and a radiologist interprets the images. The patient does not need anesthesia. A CT scan can show size and shape of the pituitary gland to find out if an abnormality is present. - Magnetic resonance imaging (MRI). MRI machines use radio waves and magnets to produce detailed pictures of the bodys internal organs and soft tissues without using x rays. An MRI may include the injection of contrast medium. With most MRI machines, the patient lies on a table that slides into a tunnel-shaped device that may be open ended or closed at one end; some machines are designed to allow the patient to lie in a more open space. A specially trained technician performs the procedure in an outpatient center or a hospital, and a radiologist interprets the images. The patient does not need anesthesia, though people with a fear of confined spaces may receive light sedation, taken by mouth. MRIs can be used to produce a three-dimensional (3-D) image of the hypothalamus and the pituitary gland to find out if an abnormality is present. - Hormonal blood tests. Hormonal blood tests can assess how the pituitary gland is functioning and its ability to produce other hormones.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to 2-methylbutyryl-CoA dehydrogenase deficiency ?"}, {"role": "assistant", "content": "Mutations in the ACADSB gene cause 2-methylbutyryl-CoA dehydrogenase deficiency. The ACADSB gene provides instructions for making an enzyme called 2-methylbutyryl-CoA dehydrogenase that helps process the amino acid isoleucine. Mutations in the ACADSB gene reduce or eliminate the activity of this enzyme. With a shortage (deficiency) of 2-methylbutyryl-CoA dehydrogenase, the body is unable to break down isoleucine properly. As a result, isoleucine is not converted to energy, which can lead to characteristic features of this disorder, such as lethargy and muscle weakness. Also, an organic acid called 2-methylbutyrylglycine and related compounds may build up to harmful levels, causing serious health problems.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) ataxia neuropathy spectrum ?"}, {"role": "assistant", "content": "Ataxia neuropathy spectrum is part of a group of conditions called the POLG-related disorders. The conditions in this group feature a range of similar signs and symptoms involving muscle-, nerve-, and brain-related functions. Ataxia neuropathy spectrum now includes the conditions previously called mitochondrial recessive ataxia syndrome (MIRAS) and sensory ataxia neuropathy dysarthria and ophthalmoplegia (SANDO). As the name implies, people with ataxia neuropathy spectrum typically have problems with coordination and balance (ataxia) and disturbances in nerve function (neuropathy). The neuropathy can be classified as sensory, motor, or a combination of the two (mixed). Sensory neuropathy causes numbness, tingling, or pain in the arms and legs, and motor neuropathy refers to disturbance in the nerves used for muscle movement. Most people with ataxia neuropathy spectrum also have severe brain dysfunction (encephalopathy) and seizures. Some affected individuals have weakness of the external muscles of the eye (ophthalmoplegia), which leads to drooping eyelids (ptosis). Other signs and symptoms can include involuntary muscle twitches (myoclonus), liver disease, depression, migraine headaches, or blindness.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Brooke-Spiegler syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Brooke-Spiegler syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Brooke-Spiegler syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Adult onset - Autosomal dominant inheritance - Milia - Neoplasm - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Citrullinemia type I ?"}, {"role": "assistant", "content": "Citrullinemia type I is an inherited disorder that causes ammonia and other toxic substances to accumulate in the blood. This condition, also known as classic citrullinemia, belongs to a class of genetic diseases called urea cycle disorders. In most cases, the condition becomes evident in the first few days of life. Affected infants typically appear normal at birth, but as ammonia builds up in the body they experience a progressive lack of energy (lethargy), poor feeding, vomiting, seizures, and loss of consciousness. Citrullinemia type I is caused by mutations in the ASS1 gene. It is inherited in an autosomal recessive pattern.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Progeria ?"}, {"role": "assistant", "content": "How might progeria be treated? Management for progeria generally focuses on the signs and symptoms of the condition and may include the following: Exercise, diet modification, and medication when the lipid profile becomes abnormal Frequent small meals to maximize caloric intake Oral hydration Use of shoe pads for foot discomfort due to lack of body fat Use of sunscreen on all exposed areas of skin Nitroglycerin for angina Routine anticongestive therapy if congestive heart failure is present Statins for their putative effect on farnesylation inhibition Anticoagulation therapy if vascular blockage, transient ischemic attacks, stroke, angina, or heart attack occur Routine physical and occupational therapy to help maintain range of motion in large and small joints Although there is currently no cure for progeria, research involving treatments is ongoing and scientists have been making much progress. The results of a recently published phase II clinical trial provided preliminary evidence that lonafarnib, a farnesyltransferase inhibitor, may improve cardiovascular status, bone structure, and audiological (hearing) status in affected children. A free, full-text version of this study is available on PubMed and can be viewed by clicking here.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Myasthenia Gravis ?"}, {"role": "assistant", "content": "Myasthenia gravis is a chronic autoimmune neuromuscular disease characterized by varying degrees of weakness of the skeletal (voluntary) muscles of the body. Symptoms vary in type and intensity. The hallmark of myasthenia gravis is muscle weakness that increases during periods of activity and improves after periods of rest. Muscles that control eye and eyelid movements, facial expression, chewing, talking, and swallowing are often, but not always, involved. The muscles that control breathing and neck and limb movements may also be affected. Myasthenia gravis is caused by a defect in the transmission of nerve impulses to muscles. Normally when impulses travel down the nerve, the nerve endings release a neurotransmitter substance called acetylcholine. In myasthenia gravis, antibodies produced by the body's own immune system block, alter, or destroy the receptors for acetylcholine. The first noticeable symptoms of myasthenia gravis may be weakness of the eye muscles, difficulty in swallowing, or slurred speech. Myasthenia gravis is an autoimmune disease because the immune system--which normally protects the body from foreign organisms--mistakenly attacks itself.. It is not directly inherited nor is it contagious.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for IRAK-4 deficiency ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of IRAK-4 deficiency: - Genetic Testing Registry: IRAK4 deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) hereditary hemorrhagic telangiectasia ?"}, {"role": "assistant", "content": "Hereditary hemorrhagic telangiectasia is a disorder that results in the development of multiple abnormalities in the blood vessels. In the circulatory system, blood carrying oxygen from the lungs is normally pumped by the heart into the arteries at high pressure. The pressure allows the blood to make its way through the arteries to the smaller vessels (arterioles and capillaries) that supply oxygen to the body's tissues. By the time blood reaches the capillaries, the pressure is much lower. The blood then proceeds from the capillaries into veins, through which it eventually returns to the heart. In hereditary hemorrhagic telangiectasia, some arterial vessels flow directly into veins rather than into the capillaries. These abnormalities are called arteriovenous malformations. When they occur in vessels near the surface of the skin, where they are visible as red markings, they are known as telangiectases (the singular is telangiectasia). Without the normal buffer of the capillaries, the blood moves from the arteries at high pressure into the thinner walled, less elastic veins. The extra pressure tends to strain and enlarge these blood vessels, and may result in compression or irritation of adjacent tissues and frequent episodes of severe bleeding (hemorrhage). Nosebleeds are very common in people with hereditary hemorrhagic telangiectasia, and more serious problems may arise from hemorrhages in the brain, liver, lungs, or other organs. Forms of hereditary hemorrhagic telangiectasia include type 1, type 2, type 3, and juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome. People with type 1 tend to develop symptoms earlier than those with type 2, and are more likely to have blood vessel malformations in the lungs and brain. Type 2 and type 3 may be associated with a higher risk of liver involvement. Women are more likely than men to develop blood vessel malformations in the lungs with type 1, and are also at higher risk of liver involvement with both type 1 and type 2. Individuals with any form of hereditary hemorrhagic telangiectasia, however, can have any of these problems. Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome is a condition that involves both arteriovenous malformations and a tendency to develop growths (polyps) in the gastrointestinal tract. Types 1, 2 and 3 do not appear to increase the likelihood of such polyps.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Pleurisy and Other Pleural Disorders ?"}, {"role": "assistant", "content": "Pleurisy\n \nMany conditions can cause pleurisy. Viral infections are likely the most common cause. Other causes of pleurisy include:\n \nBacterial infections, such as pneumonia (nu-MO-ne-ah) and tuberculosis, and infections from fungi or parasites\n \nPulmonary embolism, a blood clot that travels through the blood vessels to the lungs\n \nAutoimmune disorders, such as lupus and rheumatoid arthritis\n \nCancer, such as lung cancer, lymphoma, and mesothelioma (MEZ-o-thee-lee-O-ma)\n \nChest and heart surgery, especially coronary artery bypass grafting\n \nLung diseases, such as LAM (lymphangioleiomyomatosis) or asbestosis (as-bes-TO-sis)\n \nInflammatory bowel disease\n \nFamilial Mediterranean fever, an inherited condition that often causes fever and swelling in the abdomen or lungs\n \nOther causes of pleurisy include chest injuries, pancreatitis (an inflamed pancreas), and reactions to certain medicines. Reactions to certain medicines can cause a condition similar to lupus. These medicines include procainamide, hydralazine, and isoniazid.\n \nSometimes doctors can't find the cause of pleurisy.\n \nPneumothorax\n \nLung diseases or acute lung injury can make it more likely that you will develop a pneumothorax (a buildup of air or gas in the pleural space). Such lung diseases may include COPD (chronic obstructive pulmonary disease), tuberculosis, and LAM.\n \nSurgery or a chest injury also may cause a pneumothorax.\n \nYou can develop a pneumothorax without having a recognized lung disease or chest injury. This is called a spontaneous pneumothorax. Smoking increases your risk of spontaneous pneumothorax. Having a family history of the condition also increases your risk.\n \nPleural Effusion\n \nThe most common cause of a pleural effusion (a buildup of fluid in the pleural space) is heart failure. Lung cancer, LAM, pneumonia, tuberculosis, and other lung infections also can lead to a pleural effusion.\n \nSometimes kidney or liver disease can cause fluid to build up in the pleural space. Asbestosis, sarcoidosis (sar-koy-DO-sis), and reactions to some medicines also can lead to a pleural effusion.\n \nHemothorax\n \nAn injury to the chest, chest or heart surgery, or lung or pleural cancer can cause a hemothorax (buildup of blood in the pleural space).\n \nA hemothorax also can be a complication of an infection (for example, pneumonia), tuberculosis, or a spontaneous pneumothorax.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is the outlook for Male Breast Cancer ?"}, {"role": "assistant", "content": "Survival for men with breast cancer is similar to survival for women with breast cancer.\n Survival for men with breast cancer is similar to that for women with breast cancer when their stage at diagnosis is the same. Breast cancer in men, however, is often diagnosed at a later stage. Cancer found at a later stage may be less likely to be cured.\n \n \n Certain factors affect prognosis (chance of recovery) and treatment options.\n The prognosis (chance of recovery) and treatment options depend on the following: - The stage of the cancer (whether it is in the breast only or has spread to other places in the body). - The type of breast cancer. - Estrogen-receptor and progesterone-receptor levels in the tumor tissue. - Whether the cancer is also found in the other breast. - The patients age and general health.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is mitochondrial complex III deficiency inherited ?"}, {"role": "assistant", "content": "Mitochondrial complex III deficiency is usually inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. In some cases caused by mutations in the MT-CYB gene, the condition is not inherited; it is caused by new mutations in the gene that occur in people with no history of the condition in their family. Other cases caused by mutations in the MT-CYB gene are inherited in a mitochondrial pattern, which is also known as maternal inheritance. This pattern of inheritance applies to genes contained in mtDNA. Because egg cells, but not sperm cells, contribute mitochondria to the developing embryo, children can only inherit disorders resulting from mtDNA mutations from their mother. These disorders can appear in every generation of a family and can affect both males and females, but fathers do not pass traits associated with changes in mtDNA to their children.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Osteoporosis ?"}, {"role": "assistant", "content": "Osteoporosis makes your bones weak and more likely to break. Anyone can develop osteoporosis, but it is common in older women. As many as half of all women and a quarter of men older than 50 will break a bone due to osteoporosis. Risk factors include - Getting older - Being small and thin - Having a family history of osteoporosis - Taking certain medicines - Being a white or Asian woman - Having osteopenia, which is low bone density Osteoporosis is a silent disease. You might not know you have it until you break a bone. A bone mineral density test is the best way to check your bone health. To keep bones strong, eat a diet rich in calcium and vitamin D, exercise and do not smoke. If needed, medicines can also help. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to autosomal dominant vitreoretinochoroidopathy ?"}, {"role": "assistant", "content": "ADVIRC is caused by mutations in the BEST1 gene. The protein produced from this gene, called bestrophin-1, is thought to play a critical role in normal vision. Bestrophin-1 is found in a thin layer of cells at the back of the eye called the retinal pigment epithelium. This cell layer supports and nourishes the retina and is involved in growth and development of the eye, maintenance of the retina, and the normal function of specialized cells called photoreceptors that detect light and color. In the retinal pigment epithelium, bestrophin-1 functions as a channel that transports charged chlorine atoms (chloride ions) across the cell membrane. Mutations in the BEST1 gene alter how the gene's instructions are used to make bestrophin-1, which leads to production of versions of the protein that are missing certain segments or have extra segments. It is not clear how these versions of bestrophin affect chloride ion transport or lead to the eye abnormalities characteristic of ADVIRC. Researchers suspect that the abnormalities are related to defects in the retinal pigment epithelium or the photoreceptors.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Chronic hiccups ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Chronic hiccups? The Human Phenotype Ontology provides the following list of signs and symptoms for Chronic hiccups. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of movement 90% Functional respiratory abnormality 90% Recurrent singultus 90% Abnormality of temperature regulation 7.5% Cerebral ischemia 7.5% Coronary artery disease 7.5% Dehydration 7.5% Diabetes insipidus 7.5% Neoplasm of the nervous system 7.5% Renal insufficiency 7.5% Sleep disturbance 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is infantile-onset spinocerebellar ataxia inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to Tietz syndrome ?"}, {"role": "assistant", "content": "Tietz syndrome is caused by mutations in the MITF gene. This gene provides instructions for making a protein that plays a role in the development, survival, and function of certain types of cells. Molecules of the MITF protein attach (bind) to each other or with other proteins that have a similar structure, creating a two-protein unit (dimer). The dimer attaches to specific areas of DNA and helps control the activity of particular genes. On the basis of this action, the MITF protein is called a transcription factor. The MITF protein helps control the development and function of pigment-producing cells called melanocytes. Within these cells, this protein controls production of the pigment melanin, which contributes to hair, eye, and skin color. Melanocytes are also found in the inner ear and play an important role in hearing. Additionally, the MITF protein regulates the development of the retinal pigment epithelium. MITF gene mutations that cause Tietz syndrome either delete or change a single protein building block (amino acid) in an area of the MITF protein known as the basic motif region. Dimers incorporating the abnormal MITF protein cannot be transported into the cell nucleus to bind with DNA. As a result, most of the dimers are unavailable to bind to DNA, which affects the development of melanocytes and the production of melanin. The resulting reduction or absence of melanocytes in the inner ear leads to hearing loss. Decreased melanin production (hypopigmentation) accounts for the light skin and hair color and the retinal pigment epithelium changes that are characteristic of Tietz syndrome. Researchers suggest that Tietz syndrome may represent a severe form of a disorder called Waardenburg syndrome, which can also be caused by MITF gene mutations.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to granulomatosis with polyangiitis ?"}, {"role": "assistant", "content": "The genetic basis of GPA is not well understood. Having a particular version of the HLA-DPB1 gene is the strongest genetic risk factor for developing this condition, although several other genes, some of which have not been identified, may be involved. It is likely that a combination of genetic and environmental factors lead to GPA. GPA is an autoimmune disorder. Such disorders occur when the immune system malfunctions and attacks the body's own tissues and organs. Approximately 90 percent of people with GPA have an abnormal immune protein called an anti-neutrophil cytoplasmic antibody (ANCA) in their blood. Antibodies normally bind to specific foreign particles and germs, marking them for destruction, but ANCAs attack normal human proteins. Most people with GPA have an ANCA that attacks the human protein proteinase 3 (PR3). A few affected individuals have an ANCA that attacks a protein called myeloperoxidase (MPO). When these antibodies attach to the protein they recognize, they trigger inflammation, which contributes to the signs and symptoms of GPA. The HLA-DPB1 gene belongs to a family of genes called the human leukocyte antigen (HLA) complex. The HLA complex helps the immune system distinguish the body's own proteins from proteins made by foreign invaders (such as viruses and bacteria). Each HLA gene has many different normal variations, allowing each person's immune system to react to a wide range of foreign proteins. A particular variant of the HLA-DPB1 gene called HLA-DPB1*0401 has been found more frequently in people with GPA, especially those with ANCAs, than in people without the condition. Because the HLA-DPB1 gene is involved in the immune system, changes in it might be related to the autoimmune response and inflammation in the respiratory tract and kidneys characteristic of GPA. However, it is unclear what specific role the HLA-DPB1*0401 gene variant plays in development of this condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Chronic Neutrophilic Leukemia ?"}, {"role": "assistant", "content": "Treatment of chronic neutrophilic leukemia may include the following: - Donor bone marrow transplant. - Chemotherapy. - Biologic therapy using interferon alfa. - A clinical trial of a new treatment. Check the list of NCI-supported cancer clinical trials that are now accepting patients with chronic neutrophilic leukemia. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Shprintzen-Goldberg syndrome ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of Shprintzen-Goldberg syndrome: - Gene Review: Gene Review: Shprintzen-Goldberg Syndrome - Genetic Testing Registry: Shprintzen-Goldberg syndrome - Johns Hopkins Medicine: Diagnosis of Craniosynostosis - MedlinePlus Encyclopedia: Craniosynostosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Zollinger-Ellison Syndrome ?"}, {"role": "assistant", "content": "A person who has any of the following emergency symptoms should call or see a health care provider right away:\n \n- chest pain - sharp, sudden, persistent, and severe stomach pain - red blood in stool or black stools - red blood in vomit or vomit that looks like coffee grounds\n \nThese symptoms could be signs of a serious problem, such as\n \n- internal bleedingwhen gastric acid or a peptic ulcer breaks a blood vessel - perforationwhen a peptic ulcer forms a hole in the duodenal wall - obstructionwhen a peptic ulcer blocks the path of food trying to leave the stomach", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Do you have information about Dietary Fiber"}, {"role": "assistant", "content": "Summary : Fiber is a substance in plants. Dietary fiber is the kind you eat. It's a type of carbohydrate. You may also see it listed on a food label as soluble fiber or insoluble fiber. Both types have important health benefits. Good sources of dietary fiber include - Whole grains - Nuts and seeds - Fruit and vegetables Dietary fiber adds bulk to your diet and makes you feel full faster, helping you control your weight. It helps digestion and helps prevent constipation. Most Americans don't eat enough dietary fiber. But add it to your diet slowly. Increasing dietary fiber too quickly can lead to gas, bloating, and cramps. Centers for Disease Control and Prevention", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by hereditary leiomyomatosis and renal cell cancer ?"}, {"role": "assistant", "content": "HLRCC has been reported in approximately 100 families worldwide. Its prevalence is unknown.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Kienbock's disease ?"}, {"role": "assistant", "content": "What nonsurgical options are available for the treatment of Kienbock's disease? The primary means of nonsurgical treatment of Kienbock's disease involve immobilization and anti-inflammatory medications. The wrist may be immobilized through splinting or casting over a period of two to three weeks. Anti-inflammatory medications, such as aspirin or ibuprofen, can help to relieve pain and reduce swelling. If the pain continues after these conservative treatments, your physician may refer you to an orthopaedic or hand surgeon for further evaluation.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by methylmalonic acidemia ?"}, {"role": "assistant", "content": "This condition occurs in an estimated 1 in 50,000 to 100,000 people.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Cornelia de Lange syndrome inherited ?"}, {"role": "assistant", "content": "Is Cornelia de Lange syndrome inherited? Cornelia de Lange syndrome (CdLS) can be inherited in an autosomal dominant (NIPBL, SMC2, or RAD21) or X-linked (SMC1A or HDAC8) manner depending on the underlying genetic cause. However, most cases (more than 99%) result from new (de novo) mutations and occur in people with no family history of the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Asperger Syndrome ?"}, {"role": "assistant", "content": "Asperger syndrome (AS) is a developmental disorder. It is an autism spectrum disorder (ASD), one of a distinct group of neurological conditions characterized by a greater or lesser degree of impairment in language and communication skills, as well as repetitive or restrictive patterns of thought and behavior. Other ASDs include: classic autism, Rett syndrome, childhood disintegrative disorder, and pervasive developmental disorder not otherwise specified (usually referred to as PDD-NOS). Unlike children with autism, children with AS retain their early language skills.\n \nThe most distinguishing symptom of AS is a childs obsessive interest in a single object or topic to the exclusion of any other. Children with AS want to know everything about their topic of interest and their conversations with others will be about little else. Their expertise, high level of vocabulary, and formal speech patterns make them seem like little professors. Other characteristics of AS include repetitive routines or rituals; peculiarities in speech and language; socially and emotionally inappropriate behavior and the inability to interact successfully with peers; problems with non-verbal communication; and clumsy and uncoordinated motor movements.\n \nChildren with AS are isolated because of their poor social skills and narrow interests. They may approach other people, but make normal conversation impossible by inappropriate or eccentric behavior, or by wanting only to talk about their singular interest.Children with AS usually have a history of developmental delays in motor skills such as pedaling a bike, catching a ball, or climbing outdoor play equipment. They are often awkward and poorly coordinated with a walk that can appear either stilted or bouncy.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to Brody myopathy ?"}, {"role": "assistant", "content": "Mutations in the ATP2A1 gene cause Brody myopathy. The ATP2A1 gene provides instructions for making an enzyme called sarco(endo)plasmic reticulum calcium-ATPase 1 (SERCA1). The SERCA1 enzyme is found in skeletal muscle cells, specifically in the membrane of a structure called the sarcoplasmic reticulum. This structure plays a major role in muscle contraction and relaxation by storing and releasing positively charged calcium atoms (calcium ions). When calcium ions are transported out of the sarcoplasmic reticulum, muscles contract; when calcium ions are transported into the sarcoplasmic reticulum, muscles relax. The SERCA1 enzyme transports calcium ions from the cell into the sarcoplasmic reticulum, triggering muscle relaxation. ATP2A1 gene mutations lead to the production of a SERCA1 enzyme with decreased or no function. As a result, calcium ions are slow to enter the sarcoplasmic reticulum and muscle relaxation is delayed. After exercise or strenuous activity, during which the muscles rapidly contract and relax, people with Brody myopathy develop muscle cramps because their muscles cannot fully relax.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Cowden syndrome ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of Cowden syndrome: - Gene Review: Gene Review: PTEN Hamartoma Tumor Syndrome (PHTS) - Genetic Testing Registry: Cowden syndrome - Genetic Testing Registry: Cowden syndrome 1 - Genetic Testing Registry: Cowden syndrome 2 - National Cancer Institute: Genetic Testing for Hereditary Cancer Syndromes - University of Iowa: Are Tests for Cowden Syndrome Available? - University of Iowa: How is Cowden Syndrome Diagnosed? - University of Iowa: What Should I Be Doing About This Condition? These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Varicose Veins ?"}, {"role": "assistant", "content": "Weak or damaged valves in the veins can cause varicose veins. After your arteries and capillaries deliver oxygen-rich blood to your body, your veins return the blood to your heart. The veins in your legs must work against gravity to do this.\n \nOne-way valves inside the veins open to let blood flow through, and then they shut to keep blood from flowing backward. If the valves are weak or damaged, blood can back up and pool in your veins. This causes the veins to swell.\n \nWeak vein walls may cause weak valves. Normally, the walls of the veins are elastic (stretchy). If these walls become weak, they lose their normal elasticity. They become like an overstretched rubber band. This makes the walls of the veins longer and wider, and it causes the flaps of the valves to separate.\n \nWhen the valve flaps separate, blood can flow backward through the valves. The backflow of blood fills the veins and stretches the walls even more. As a result, the veins get bigger, swell, and often twist as they try to squeeze into their normal space. These are varicose veins.\n \nNormal Vein and Varicose Vein\n \n\n \nFigure A shows a normal vein with a working valve and normal blood flow. Figure B shows a varicose vein with a deformed valve, abnormal blood flow, and thin, stretched walls. The middle image shows where varicose veins might appear in a leg.\n \nOlder age or a family history of varicose veins may raise your risk for weak vein walls. You also may be at higher risk if you have increased pressure in your veins due to overweight or obesity or pregnancy.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Rotor syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Rotor syndrome? Jaundice, characterized by yellowing of the skin and/or whites of the eyes (conjunctival icterus), is usually the only symptom of Rotor syndrome. Jaundice usually begins shortly after birth or in childhood and may come and go. The Human Phenotype Ontology provides the following list of signs and symptoms for Rotor syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the liver 90% Abdominal pain 7.5% Abnormality of temperature regulation 7.5% Abnormality of the gastric mucosa 7.5% Abnormality of skin pigmentation - Abnormality of the skeletal system - Autosomal recessive inheritance - Conjugated hyperbilirubinemia - Jaundice - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "what research (or clinical trials) is being done for Nasopharyngeal Cancer ?"}, {"role": "assistant", "content": "New types of treatment are being tested in clinical trials.\n Information about clinical trials is available from the NCI website.\n \n \n Patients may want to think about taking part in a clinical trial.\n For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward.\n \n \n Patients can enter clinical trials before, during, or after starting their cancer treatment.\n Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) congenital insensitivity to pain ?"}, {"role": "assistant", "content": "Congenital insensitivity to pain is a condition that inhibits the ability to perceive physical pain. From birth, affected individuals never feel pain in any part of their body when injured. People with this condition can feel the difference between sharp and dull and hot and cold, but cannot sense, for example, that a hot beverage is burning their tongue. This lack of pain awareness often leads to an accumulation of wounds, bruises, broken bones, and other health issues that may go undetected. Young children with congenital insensitivity to pain may have mouth or finger wounds due to repeated self-biting and may also experience multiple burn-related injuries. These repeated injuries often lead to a reduced life expectancy in people with congenital insensitivity to pain. Many people with congenital insensitivity to pain also have a complete loss of the sense of smell (anosmia). Congenital insensitivity to pain is considered a form of peripheral neuropathy because it affects the peripheral nervous system, which connects the brain and spinal cord to muscles and to cells that detect sensations such as touch, smell, and pain.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by Kearns-Sayre syndrome ?"}, {"role": "assistant", "content": "The prevalence of Kearns-Sayre syndrome is approximately 1 to 3 per 100,000 individuals.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Pulmonary alveolar proteinosis acquired ?"}, {"role": "assistant", "content": "Acquired pulmonary alveolar proteinosis (PAP) is a rare, acquired lung disorder characterized by the accumulation of grainy material consisting mostly of protein and fat (lipoproteinaceous material) in the air sacs of the lungs (alveoli). Most cases affect adults between the ages of 20-50. The symptoms can vary greatly; some individuals may not show symptoms, while others may experience progressive difficulty breathing and shortness of breath upon exertion. Other signs and symptoms may include a dry, chronic cough; fatigue; weight loss; chest pain; and a general feeling of ill health. In rare cases, the coughing up of blood, rounding and swelling of the tips of the fingers, and cyanosis may be present. Most cases occur for no known reason, but some cases may occur secondary to environmental exposures or underlying diseases; some researchers believe it may be an autoimmune disorder. The treatment varies from case to case depending upon the age of the affected individual and severity of the disease. Acquired PAP differs from congenital PAP, an extremely rare form of PAP that occurs in some newborns.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Benign schwannoma ?"}, {"role": "assistant", "content": "What are the signs and symptoms of schwannomas? Common signs and symptoms of schwannomas include a slow-growing mass and Tinel shock (electric-like shock when affected area is touched). Some people may experience numbness or other neurological symptoms depending on the size and location of the tumor.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Rhizomelic chondrodysplasia punctata type 3 ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Rhizomelic chondrodysplasia punctata type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Rhizomelic chondrodysplasia punctata type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Epiphyseal stippling - Failure to thrive - Rhizomelia - Short femur - Short humerus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Ichthyosis hystrix gravior ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Ichthyosis hystrix gravior? The Human Phenotype Ontology provides the following list of signs and symptoms for Ichthyosis hystrix gravior. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Ichthyosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for prekallikrein deficiency ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of prekallikrein deficiency: - Genetic Testing Registry: Prekallikrein deficiency - Massachusetts General Hospital Laboratory Handbook: Prekallikrein These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Tourette syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Tourette syndrome? The early symptoms of Tourette syndrome are almost always noticed first in childhood, with the average onset between the ages of 3 and 9 years. Although the symptoms of Tourette syndrome vary from person to person and range from very mild to severe, the majority of cases fall into the mild category. The Human Phenotype Ontology provides the following list of signs and symptoms for Tourette syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aggressive behavior - Attention deficit hyperactivity disorder - Autosomal dominant inheritance - Echolalia - Motor tics - Obsessive-compulsive behavior - Phonic tics - Self-mutilation - Sleep disturbance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Lysinuric protein intolerance ?"}, {"role": "assistant", "content": "Lysinuric protein intolerance is a metabolic disorder caused by the body's inability to digest and use the amino acids lysine, arginine, and ornithine. Because the body cannot effectively break down these amino acids, which are found in many protein-rich foods, individuals experience nausea and vomiting after ingesting protein. Other features associated with protein intolerance may also occur, including short stature, muscle weakness, impaired immune function, and osteoporosis. A lung disorder called pulmonary alveolar proteinosis may develop in some individuals, as can end-stage renal disease, coma and intellectual disability. Symptoms usually develop after infants are weaned and begin to eat solid foods. Lysinuric protein intolerance is caused by mutations in the SLC7A7 gene. It is inherited in an autosomal recessive manner.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Chronic Eosinophilic Leukemia ?"}, {"role": "assistant", "content": "Signs and symptoms of chronic eosinophilic leukemia include fever and feeling very tired. Chronic eosinophilic leukemia may not cause early signs or symptoms. It may be found during a routine blood test. Signs and symptoms may be caused by chronic eosinophilic leukemia or by other conditions. Check with your doctor if you have any of the following: - Fever. - Feeling very tired. - Cough. - Swelling under the skin around the eyes and lips, in the throat, or on the hands and feet. - Muscle pain. - Itching. - Diarrhea.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is cyclic vomiting syndrome inherited ?"}, {"role": "assistant", "content": "In most cases of cyclic vomiting syndrome, affected people have no known history of the disorder in their family. However, many affected individuals have a family history of related conditions, such as migraines, irritable bowel syndrome, or depression, in their mothers and other maternal relatives. This family history suggests an inheritance pattern known as maternal inheritance or mitochondrial inheritance, which applies to genes contained in mtDNA. Because egg cells, but not sperm cells, contribute mitochondria to the developing embryo, children can only inherit disorders resulting from mtDNA mutations from their mother. These disorders can appear in every generation of a family and can affect both males and females, but fathers do not pass traits associated with changes in mtDNA to their children. Occasionally, people with cyclic vomiting syndrome have a family history of the disorder that does not follow maternal inheritance. In these cases, the inheritance pattern is unknown.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for MECP2-related severe neonatal encephalopathy ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of MECP2-related severe neonatal encephalopathy: - Cincinnati Children's Hospital: MECP2-Related Disorders - Gene Review: Gene Review: MECP2-Related Disorders - Genetic Testing Registry: Severe neonatal-onset encephalopathy with microcephaly - Johns Hopkins Children's Center: Failure to Thrive These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Carney triad ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Carney triad? The Human Phenotype Ontology provides the following list of signs and symptoms for Carney triad. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abdominal pain 90% Diarrhea 90% Gastrointestinal hemorrhage 90% Nausea and vomiting 90% Neoplasm of the lung 90% Neoplasm of the stomach 90% Neuroendocrine neoplasm 90% Sarcoma 90% Abnormality of the liver 50% Abnormality of the mediastinum 50% Ascites 50% Hypercortisolism 50% Anemia 7.5% Anorexia 7.5% Arrhythmia 7.5% Hypertension 7.5% Lymphadenopathy 7.5% Migraine 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of PCDH19-related female-limited epilepsy ?"}, {"role": "assistant", "content": "What are the signs and symptoms of PCDH19-related female-limited epilepsy? The Human Phenotype Ontology provides the following list of signs and symptoms for PCDH19-related female-limited epilepsy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Intellectual disability 30% Absence seizures - Aggressive behavior - Atonic seizures - Focal seizures - Generalized myoclonic seizures - Generalized tonic-clonic seizures - Infantile onset - Psychosis - Status epilepticus - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is carbamoyl phosphate synthetase I deficiency inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for glycine encephalopathy ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of glycine encephalopathy: - Baby's First Test - Gene Review: Gene Review: Glycine Encephalopathy - Genetic Testing Registry: Non-ketotic hyperglycinemia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of X-linked magnesium deficiency with Epstein-Barr virus infection and neoplasia ?"}, {"role": "assistant", "content": "What are the signs and symptoms of X-linked magnesium deficiency with Epstein-Barr virus infection and neoplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked magnesium deficiency with Epstein-Barr virus infection and neoplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Decreased number of CD4+ T cells - Decreased T cell activation - Immunodeficiency - Lymphoma - Recurrent viral infections - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) lactate dehydrogenase deficiency ?"}, {"role": "assistant", "content": "Lactate dehydrogenase deficiency is a condition that affects how the body breaks down sugar to use as energy in cells, primarily muscle cells. There are two types of this condition: lactate dehydrogenase-A deficiency (sometimes called glycogen storage disease XI) and lactate dehydrogenase-B deficiency. People with lactate dehydrogenase-A deficiency experience fatigue, muscle pain, and cramps during exercise (exercise intolerance). In some people with lactate dehydrogenase-A deficiency, high-intensity exercise or other strenuous activity leads to the breakdown of muscle tissue (rhabdomyolysis). The destruction of muscle tissue releases a protein called myoglobin, which is processed by the kidneys and released in the urine (myoglobinuria). Myoglobin causes the urine to be red or brown. This protein can also damage the kidneys, in some cases leading to life-threatening kidney failure. Some people with lactate dehydrogenase-A deficiency develop skin rashes. The severity of the signs and symptoms among individuals with lactate dehydrogenase-A deficiency varies greatly. People with lactate dehydrogenase-B deficiency typically do not have any signs or symptoms of the condition. They do not have difficulty with physical activity or any specific physical features related to the condition. Affected individuals are usually discovered only when routine blood tests reveal reduced lactate dehydrogenase activity.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Hashimoto's Disease ?"}, {"role": "assistant", "content": "Treatment generally depends on whether the thyroid is damaged enough to cause hypothyroidism. In the absence of hypothyroidism, some health care providers treat Hashimotos disease to reduce the size of the goiter. Others choose not to treat the disease and simply monitor their patients for disease progression.\n \nHashimotos disease, with or without hypothyroidism, is treated with synthetic thyroxine, which is man-made T4. Health care providers prefer to use synthetic T4, such as Synthroid, rather than synthetic T3, because T4 stays in the body longer, ensuring a steady supply of thyroid hormone throughout the day. The thyroid preparations made with animal thyroid are not considered as consistent as synthetic thyroid (Levothyroxine) and rarely prescribed today.\n \nHealth care providers routinely test the blood of patients taking synthetic thyroid hormone and adjust the dose as necessary, typically based on the result of the TSH test. Hypothyroidism can almost always be completely controlled with synthetic thyroxine, as long as the recommended dose is taken every day as instructed.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "what research (or clinical trials) is being done for Complex Regional Pain Syndrome ?"}, {"role": "assistant", "content": "The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research relating to CRPS and also support additional research through grants to major medical institutions across the country. NINDS-supported scientists are studying new approaches to treat CRPS and intervene more aggressively after traumatic injury to lower the chances of developing the disorder. Researchers hope to identify specific cellular and molecular changes in sensory neurons following peripheral nerve injury to better understand the processes that underlie neuroplasticity (the brains ability to reorganize or form new nerve connections and pathways following injury or death of nerve cells). Identifying these mechanisms could provide targets for new drug therapies that could improve recovery following regeneration. Other researchers hope to better understand how CRPS develops by studying immune system activation and peripheral nerve signaling using an animal model of the disorder.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Baraitser-Winter syndrome inherited ?"}, {"role": "assistant", "content": "This condition is described as autosomal dominant, which means one copy of the altered gene in each cell is sufficient to cause the disorder. The condition almost always results from new (de novo) mutations in the ACTB or ACTG1 gene and occurs in people with no history of the disorder in their family.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for autoimmune polyglandular syndrome, type 1 ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of autoimmune polyglandular syndrome, type 1: - Genetic Testing Registry: Autoimmune polyglandular syndrome type 1, autosomal dominant - Genetic Testing Registry: Autoimmune polyglandular syndrome type 1, with reversible metaphyseal dysplasia - Genetic Testing Registry: Polyglandular autoimmune syndrome, type 1 - MedlinePlus Encyclopedia: Addison's Disease - MedlinePlus Encyclopedia: Autoimmune Disorders - MedlinePlus Encyclopedia: Cutaneous Candidiasis - MedlinePlus Encyclopedia: Hypoparathyroidism These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for infantile-onset ascending hereditary spastic paralysis ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of infantile-onset ascending hereditary spastic paralysis: - Gene Review: Gene Review: ALS2-Related Disorders - Genetic Testing Registry: Infantile-onset ascending hereditary spastic paralysis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Prostate Enlargement: Benign Prostatic Hyperplasia ?"}, {"role": "assistant", "content": "Benign prostatic hyperplasiaalso called BPHis a condition in men in which the prostate gland is enlarged and not cancerous. Benign prostatic hyperplasia is also called benign prostatic hypertrophy or benign prostatic obstruction.\n \nThe prostate goes through two main growth periods as a man ages. The first occurs early in puberty, when the prostate doubles in size. The second phase of growth begins around age 25 and continues during most of a mans life. Benign prostatic hyperplasia often occurs with the second growth phase.\n \nAs the prostate enlarges, the gland presses against and pinches the urethra. The bladder wall becomes thicker. Eventually, the bladder may weaken and lose the ability to empty completely, leaving some urine in the bladder. The narrowing of the urethra and urinary retentionthe inability to empty the bladder completelycause many of the problems associated with benign prostatic hyperplasia.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Prader-Willi habitus, osteopenia, and camptodactyly ?"}, {"role": "assistant", "content": "Prader-Willi habitus, osteopenia, and camptodactyly syndrome is characterized by intellectual disability, short stature, obesity, genital abnormalities, and hand and/or toe contractures. It has only been described in two brothers and in one isolated case in a different family. Other symptoms included unusual face, deformity of the spinal column, osteoporosis and a history of frequent fractures. It is similar to Prader-Willi syndrome, but the authors concluded that it is a different condition. The cause was unknown in the reported cases.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Carney complex ?"}, {"role": "assistant", "content": "Carney complex is a disorder characterized by an increased risk of several types of tumors. Affected individuals also usually have changes in skin coloring (pigmentation). Signs and symptoms of this condition commonly begin in the teens or early adulthood. Individuals with Carney complex are at increased risk of developing noncancerous (benign) tumors called myxomas in the heart (cardiac myxoma) and other parts of the body. Cardiac myxomas may be found in any of the four chambers of the heart and can develop in more than one chamber. These tumors can block the flow of blood through the heart, causing serious complications or sudden death. Myxomas may also develop on the skin and in internal organs. Skin myxomas appear as small bumps on the surface of the skin or as lumps underneath the skin. In Carney complex, myxomas have a tendency to recur after they are removed. Individuals with Carney complex also develop tumors in hormone-producing (endocrine) glands, such as the adrenal glands located on top of each kidney. People with this condition may develop a specific type of adrenal disease called primary pigmented nodular adrenocortical disease (PPNAD). PPNAD causes the adrenal glands to produce an excess of the hormone cortisol. High levels of cortisol (hypercortisolism) can lead to the development of Cushing syndrome. This syndrome causes weight gain in the face and upper body, slowed growth in children, fragile skin, fatigue, and other health problems. People with Carney complex may also develop tumors of other endocrine tissues, including the thyroid, testes, and ovaries. A tumor called an adenoma may form in the pituitary gland, which is located at the base of the brain. A pituitary adenoma usually results in the production of too much growth hormone. Excess growth hormone leads to acromegaly, a condition characterized by large hands and feet, arthritis, and \"coarse\" facial features. Some people with Carney complex develop a rare tumor called psammomatous melanotic schwannoma. This tumor occurs in specialized cells called Schwann cells, which wrap around and insulate nerves. This tumor is usually benign, but in some cases it can become cancerous (malignant). Almost all people with Carney complex have areas of unusual skin pigmentation. Brown skin spots called lentigines may appear anywhere on the body but tend to occur around the lips, eyes, or genitalia. In addition, some affected individuals have at least one blue-black mole called a blue nevus.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is focal dermal hypoplasia inherited ?"}, {"role": "assistant", "content": "Focal dermal hypoplasia is inherited in an X-linked dominant pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell is sufficient to cause the disorder. The X chromosome that contains the mutated PORCN gene may be turned on (active) or turned off (inactive) due to a process called X-inactivation. Early in embryonic development in females, one of the two X chromosomes is permanently inactivated in somatic cells (cells other than egg and sperm cells). X-inactivation ensures that females, like males, have only one active copy of the X chromosome in each body cell. Usually X-inactivation occurs randomly, so that each X chromosome is active in about half the body's cells. Sometimes X-inactivation is not random, and one X chromosome is active in more than half of cells. When X-inactivation does not occur randomly, it is called skewed X-inactivation. Researchers suspect that the distribution of active and inactive X chromosomes may play a role in determining the severity of focal dermal hypoplasia in females. In males (who have only one X chromosome), a mutation in the only copy of the PORCN gene in each cell appears to be lethal very early in development. A male can be born with focal dermal hypoplasia if he has a PORCN gene mutation in only some of his cells (known as mosaicism). Affected males typically experience milder symptoms of the disorder than females because more of their cells have a functional copy of the PORCN gene. A characteristic of focal dermal hypoplasia is that mildly affected fathers cannot pass this condition to their sons, but they can pass it to their daughters, who are usually more severely affected than they are. Women with focal dermal hypoplasia cannot pass this condition to their sons (because it is lethal early in development) but can pass it to their daughters. Most cases of focal dermal hypoplasia in females result from new mutations in the PORCN gene and occur in people with no history of the disorder in their family. When focal dermal hypoplasia occurs in males, it always results from a new mutation in this gene that is not inherited. Only about 5 percent of females with this condition inherit a mutation in the PORCN gene from a parent.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Klippel Feil Syndrome ?"}, {"role": "assistant", "content": "Treatment for Klippel-Feil Syndrome is symptomatic and may include surgery to relieve cervical or craniocervical instability and constriction of the spinal cord, and to correct scoliosis. Physical therapy may also be useful.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Hemophagocytic lymphohistiocytosis inherited ?"}, {"role": "assistant", "content": "Is hemophagocytic lymphohistiocytosis inherited? Hemophagocytic lymphohistiocytosis (HLH) may be inherited or acquired (due to non-genetic factors). Familial HLH is inherited in an autosomal recessive manner. This means that to be affected, a person must have a change (mutation) in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier. Acquired HLH is not inherited. The non-genetic causes of HLH include: infection, medications that suppress the immune system, autoimmune diseases, immunodeficiencies, certain types of cancer and/or metabolic diseases.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to prevent Asbestos-Related Lung Diseases ?"}, {"role": "assistant", "content": "You can prevent asbestos-related lung diseases by limiting your exposure to asbestos fibers. If your job requires you to work around asbestos, make sure to follow workplace rules for handling it. For example, make sure that air levels are measured, and wear a proper respirator to avoid breathing in asbestos fibers.\n \nIf you live in a house or work in a building that has pipes or other products containing asbestos, you generally dont need to take special precautions. Being around products that contain asbestos isnt a danger, as long as the asbestos is enclosed. This prevents the fibers from getting into the air.\n \nIf you smoke, quit. Smoking greatly increases your risk of lung cancer if you have pleural plaque, pleural effusion, or asbestosis. Talk with your doctor about programs and products that can help you quit smoking. Also, try to avoid secondhand smoke.\n \nIf you have trouble quitting smoking on your own, consider joining a support group. Many hospitals, workplaces, and community groups offer classes to help people quit smoking.\n \nFor more information about how to quit smoking, go to the Diseases and Conditions Index Smoking and Your Heart article and the National Heart, Lung, and Blood Institutes Your Guide to a Healthy Heart. Although these resources focus on heart health, they include general information about how to quit smoking.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Donnai-Barrow syndrome ?"}, {"role": "assistant", "content": "Donnai Barrow syndrome is an inherited disorder that affects many parts of the body. People with this condition generally have characteristic facial features, severe sensorineural hearing loss, vision problems and an absent or underdeveloped corpus callosum (the tissue connecting the left and right halves of the brain). Other features may include diaphragmatic hernia, omphalocele, and/or other abnormalities of the intestine or heart. Affected people often have mild to moderate intellectual disability and developmental delay. Donnai Barrow syndrome is caused by changes (mutations) in the LRP2 gene and is inherited in an autosomal recessive manner. Treatment of this condition is based on the signs and symptoms present in each person but may include hearing aids and/or cochlear implants for hearing loss, corrective lenses for vision problems and surgery for certain physical abnormalities.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Benign hereditary chorea ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Benign hereditary chorea? The Human Phenotype Ontology provides the following list of signs and symptoms for Benign hereditary chorea. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Gait disturbance 90% Dysarthria 7.5% Anxiety - Autosomal dominant inheritance - Chorea - Juvenile onset - Motor delay - Phenotypic variability - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Williams syndrome ?"}, {"role": "assistant", "content": "Williams syndrome is a developmental disorder that affects many parts of the body. This condition is characterized by mild to moderate intellectual disability, unique personality characteristics, distinctive facial features, and heart and blood vessel (cardiovascular) problems. Williams syndrome is caused by missing genes from a specific region of chromosome 7. The deleted region includes more than 25 genes and researchers believe that a loss of several of these genes probably contributes to the characteristic features of this disorder. Although Williams syndrome is considered an autosomal dominant condition, most cases are not inherited, but occur as random events during the formation of reproductive cells (eggs or sperm) in a parent of an affected individual.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Lemierre syndrome ?"}, {"role": "assistant", "content": "What causes Lemierre syndrome? In about 90% of cases, Lemierre syndrome is caused by Fusobacterium necrophorum; however, the syndrome has also been reported with other bacteria, including Stapylococcus aureus, Bacteroides, Eikenella, Porphyromonas, Prevotella, Proteus, Peptostreptococcus and Streptococcus pyogenes.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by autosomal recessive hyper-IgE syndrome ?"}, {"role": "assistant", "content": "AR-HIES is a rare disorder whose prevalence is unknown.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Metabolic Disorders ?"}, {"role": "assistant", "content": "Metabolism is the process your body uses to get or make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive system break the food parts down into sugars and acids, your body's fuel. Your body can use this fuel right away, or it can store the energy in your body tissues, such as your liver, muscles, and body fat. A metabolic disorder occurs when abnormal chemical reactions in your body disrupt this process. When this happens, you might have too much of some substances or too little of other ones that you need to stay healthy. You can develop a metabolic disorder when some organs, such as your liver or pancreas, become diseased or do not function normally. Diabetes is an example.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Aspergillosis ?"}, {"role": "assistant", "content": "How might aspergillosis be treated? If the infection is widespread or the person appears seriously ill, treatment is started immediately. Voriconazole is currently first-line treatment for invasive aspergillosis and is usually given intravenously. There are other antifungal drugs that can be used to treat invasive aspergillosis in patients who cannot take voriconazole or who have not responded to voriconazole. These include itraconazole, lipid amphotericin formulations, caspofungin, micafungin, and posaconazole. Whenever possible, immunosuppressive medications should be discontinued or decreased. A fungus ball usually does not require treatment unless bleeding into the lung tissue is associated with the infection, then surgery is required. Antifungal agents do not help people with allergic aspergillosis. Allergic aspergillosis is treated with prednisone taken by mouth.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is glutamate formiminotransferase deficiency inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Kawasaki Disease ?"}, {"role": "assistant", "content": "Kawasaki (KAH-wah-SAH-ke) disease is a rare childhood disease. It's a form of a condition calledvasculitis(vas-kyu-LI-tis). This condition involves inflammation of the blood vessels.\n \nIn Kawasaki disease, the walls of the blood vessels throughout the body become inflamed. The disease can affect any type of blood vessel in the body, including the arteries, veins, and capillaries.\n \nSometimes Kawasaki disease affects the coronary arteries, which carry oxygen-rich blood to the heart. As a result, some children who have Kawasaki disease may develop serious heart problems.\n \nOverview\n \nThe cause of Kawasaki disease isn't known. The body's response to a virus or infection combined with genetic factors may cause the disease. However, no specific virus or infection has been found, and the role of genetics isn't known.\n \nThe disease can't be passed from one child to another. Your child won't get it from close contact with a child who has the disease. Also, if your child has the disease, he or she can't pass it to another child.\n \nKawasaki disease affects children of all races and ages and both genders. It occurs most often in children of Asian and Pacific Island descent. The disease is more likely to affect boys than girls. Most cases occur in children younger than 5years old.\n \nOne of the main symptoms of Kawasaki disease is a fever that lasts longer than5days. The fever remains high even after treatment with standard childhood fever medicines.\n \nChildren who have the disease also may have red eyes, red lips, and redness on the palms of their hands and soles of their feet. These are all signs of inflamed blood vessels.\n \nEarly treatment helps reduce the risk of Kawasaki disease affecting the coronary arteries and causing serious problems.\n \nOutlook\n \nKawasaki disease can't be prevented. However, most children who have the disease usually recover within weeks of getting symptoms. Further problems are rare.\n \nThe disease affects some children's coronary arteries, which can cause serious problems. These children need long-term care and treatment.\n \nResearchers continue to look for the cause of Kawasaki disease and better ways to diagnose and treat it. They also hope to learn more about long-term health risks, if any, for people who have had the disease.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Birthmarks ?"}, {"role": "assistant", "content": "Birthmarks are abnormalities of the skin that are present when a baby is born. There are two types of birthmarks. Vascular birthmarks are made up of blood vessels that haven't formed correctly. They are usually red. Two types of vascular birthmarks are hemangiomas and port-wine stains. Pigmented birthmarks are made of a cluster of pigment cells which cause color in skin. They can be many different colors, from tan to brown, gray to black, or even blue. Moles can be birthmarks. No one knows what causes many types of birthmarks, but some run in families. Your baby's doctor will look at the birthmark to see if it needs any treatment or if it should be watched. Pigmented birthmarks aren't usually treated, except for moles. Treatment for vascular birthmarks includes laser surgery. Most birthmarks are not serious, and some go away on their own. Some stay the same or get worse as you get older. Usually birthmarks are only a concern for your appearance. But certain types can increase your risk of skin cancer. If your birthmark bleeds, hurts, itches, or becomes infected, call your health care provider.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Meningoencephalocele ?"}, {"role": "assistant", "content": "Meningoencephalocele is a type of encephalocele, which is an abnormal sac of fluid, brain tissue, and meninges (membranes that cover the brain and spinal cord) that extends through a defect in the skull. There are two main types of meningoencephalocele, which are named according to the location of the sac. The frontoethmoidal type is located at the frontal and ethmoid bones while the occipital type is located at the occipital bone. Hydrocephalus, abnormalities of the eyeball and tear duct, and other findings have been associated with the condition. Some affected individuals have intellectual or physical disabilities while others have normal development and abilities. The condition is typically congenital (present at birth) but has been reported to develop by chance in older individuals in rare cases. The underlying cause of the condition is uncertain, but environmental factors are thought to play a role. Treatment depends on the size, location and severity of the defect but mainly includes magnetic resonance imaging (MRI) to determine the severity of the defect, followed by surgery to repair it.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Familial Mediterranean fever ?"}, {"role": "assistant", "content": "Familial Mediterranean fever (FMF) is an inherited condition characterized by episodes of painful inflammation of the abdominal lining (peritonitis), lining surrounding the lungs (pleurisy), and joints (arthralgia and occasionally arthritis). These episodes are often accompanied by fever and sometimes a characteristic ankle rash. The first episode usually occurs in childhood or the teenage years, but in some cases, the initial attack occurs much later in life. Between attacks, people often do not have any symptoms. Without treatment, FMF can lead to kidney failure due to a buildup of certain protein deposits (amyloidosis). FMF is usually inherited in an autosomal recessive fashion and is caused by mutations in the MEFV gene. Treatment for FMF often involves use of a medication called colchicine.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) X-linked adrenal hypoplasia congenita ?"}, {"role": "assistant", "content": "X-linked adrenal hypoplasia congenita is a disorder that mainly affects males. It involves many hormone-producing (endocrine) tissues in the body, particularly a pair of small glands on top of each kidney called the adrenal glands. These glands produce a variety of hormones that regulate many essential functions in the body. One of the main signs of this disorder is adrenal insufficiency, which occurs when the adrenal glands do not produce enough hormones. Adrenal insufficiency typically begins in infancy or childhood and can cause vomiting, difficulty with feeding, dehydration, extremely low blood sugar (hypoglycemia), and shock. If untreated, these complications are often life-threatening. Affected males may also have a shortage of male sex hormones, which leads to underdeveloped reproductive tissues, undescended testicles (cryptorchidism), delayed puberty, and an inability to father children (infertility). Together, these characteristics are known as hypogonadotropic hypogonadism. The onset and severity of these signs and symptoms can vary, even among affected members of the same family.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Cold urticaria ?"}, {"role": "assistant", "content": "Cold urticaria is a condition that affects the skin. Signs and symptoms generally include reddish, itchy welts (hives) and/or swelling when skin is exposed to the cold (i.e. cold weather or swimming in cold water). This rash is usually apparent within 2-5 minutes after exposure and can last for 1-2 hours. The exact cause of cold urticaria is poorly understood in most cases. Rarely, it may be associated with an underlying blood condition or infectious disease. Treatment generally consists of patient education, avoiding exposures that may trigger a reaction, and/or medications.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Childhood Brain and Spinal Cord Tumors ?"}, {"role": "assistant", "content": "Key Points\n - There are different types of treatment for children with brain and spinal cord tumors. - Children with brain or spinal cord tumors should have their treatment planned by a team of health care providers who are experts in treating childhood brain and spinal cord tumors. - Childhood brain and spinal cord tumors may cause signs or symptoms that begin before the cancer is diagnosed and continue for months or years. - Some cancer treatments cause side effects months or years after treatment has ended. - Three types of standard treatment are used: - Surgery - Radiation therapy - Chemotherapy - New types of treatment are being tested in clinical trials. - High-dose chemotherapy with stem cell transplant - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed.\n \n \n There are different types of treatment for children with brain and spinal cord tumors.\n Different types of treatment are available for children with brain and spinal cord tumors. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Because cancer in children is rare, taking part in a clinical trial should be considered. Clinical trials are taking place in many parts of the country. Some clinical trials are open only to patients who have not started treatment.\n \n \n Children with brain or spinal cord tumors should have their treatment planned by a team of health care providers who are experts in treating childhood brain and spinal cord tumors.\n Treatment will be overseen by a pediatric oncologist, a doctor who specializes in treating children with cancer. The pediatric oncologist works with other health care providers who are experts in treating children with brain tumors and who specialize in certain areas of medicine. These may include the following specialists: - Pediatrician. - Neurosurgeon. - Neurologist. - Neuro-oncologist. - Neuropathologist. - Neuroradiologist. - Radiation oncologist. - Endocrinologist. - Psychologist. - Ophthalmologist. - Rehabilitation specialist. - Social worker. - Nurse specialist.\n \n \n Childhood brain and spinal cord tumors may cause signs or symptoms that begin before the cancer is diagnosed and continue for months or years.\n Childhood brain and spinal cord tumors may cause signs or symptoms that continue for months or years. Signs or symptoms caused by the tumor may begin before diagnosis. Signs or symptoms caused by treatment may begin during or right after treatment.\n \n \n Some cancer treatments cause side effects months or years after treatment has ended.\n These are called late effects. Late effects of cancer treatment may include the following: - Physical problems. - Changes in mood, feelings, thinking, learning, or memory. - Second cancers (new types of cancer). Some late effects may be treated or controlled. It is important to talk with your child's doctors about the effects cancer treatment can have on your child. (See the PDQ summary on Late Effects of Treatment for Childhood Cancer for more information).\n \n \n Three types of standard treatment are used:\n Surgery Surgery may be used to diagnose and treat childhood brain and spinal cord tumors. See the General Information section of this summary. Radiation therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy: - External radiation therapy uses a machine outside the body to send radiation toward the cancer. - Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. The way the radiation therapy is given depends on the type of cancer being treated. External radiation therapy is used to treat childhood brain and spinal cord tumors. Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly in the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). The way the chemotherapy is given depends on the type and stage of the cancer being treated. Anticancer drugs given by mouth or vein to treat brain and spinal cord tumors cannot cross the blood-brain barrier and enter the fluid that surrounds the brain and spinal cord. Instead, an anticancer drug is injected into the fluid-filled space to kill cancer cells there. This is called intrathecal chemotherapy.\n \n \n New types of treatment are being tested in clinical trials.\n This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. High-dose chemotherapy with stem cell transplant High-dose chemotherapy with stem cell transplant is a way of giving high doses of chemotherapy and replacing blood -forming cells destroyed by the cancer treatment. Stem cells (immature blood cells) are removed from the blood or bone marrow of the patient or a donor and are frozen and stored. After the chemotherapy is completed, the stored stem cells are thawed and given back to the patient through an infusion. These reinfused stem cells grow into (and restore) the bodys blood cells.\n \n \n Patients may want to think about taking part in a clinical trial.\n For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward.\n \n \n Patients can enter clinical trials before, during, or after starting their cancer treatment.\n Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. Information about clinical trials is available from the NCI website.\n \n \n Follow-up tests may be needed.\n Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your child's condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia ?"}, {"role": "assistant", "content": "The prevalence of XMEN is unknown. Only a few affected individuals have been described in the medical literature.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to isolated Pierre Robin sequence ?"}, {"role": "assistant", "content": "Changes in the DNA near the SOX9 gene are the most common genetic cause of isolated Pierre Robin sequence. It is likely that changes in other genes, some of which have not been identified, also cause isolated Pierre Robin sequence. The SOX9 gene provides instructions for making a protein that plays a critical role in the formation of many different tissues and organs during embryonic development. The SOX9 protein regulates the activity of other genes, especially those that are important for development of the skeleton, including the mandible. The genetic changes associated with isolated Pierre Robin sequence occur near the SOX9 gene. These abnormalities are thought to disrupt regions of DNA called enhancers that normally regulate the activity of the SOX9 gene, reducing SOX9 gene activity. As a result, the SOX9 protein cannot properly control the genes essential for normal development of the lower jaw, causing micrognathia, and consequently, glossoptosis and cleft palate.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Satoyoshi syndrome ?"}, {"role": "assistant", "content": "Satoyoshi syndrome is a rare condition characterized by progressive, painful, intermittent muscle spasms, diarrhea or unusual malabsorption, amenorrhea, alopecia universalis, short stature, and skeletal abnormalities. Progressive painful intermittent muscle spasms usually start between 6 to 15 years of age. Alopecia universalis also appears around age 10. About half of affected individuals experience malabsorption, specifically of carbohydrates. The skeletal abnormalities may be secondary to muscle spasms. The main endocrine disorder is primary amenorrhea. All cases have apparently been sporadic, even when occurring in large families. The exact cause is unknown; but some researchers have speculated that Satoyoshi syndrome is an autoimmune disorder.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for atopic dermatitis ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of atopic dermatitis: - American Academy of Dermatology: Atopic Dermatitis: Tips for Managing These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Liposarcoma ?"}, {"role": "assistant", "content": "Liposarcoma is a tumor that arises from fat tissue. This tumor often occurs in the thigh, behind the knee, or in the abdomen, but it can be found in other parts of the body. Because a liposarcoma may grow into surrounding tissues or organs, it is considered a malignant tumor.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to 2-hydroxyglutaric aciduria ?"}, {"role": "assistant", "content": "The different types of 2-hydroxyglutaric aciduria result from mutations in several genes. D-2-HGA type I is caused by mutations in the D2HGDH gene; type II is caused by mutations in the IDH2 gene. L-2-HGA results from mutations in the L2HGDH gene. Combined D,L-2-HGA is caused by mutations in the SLC25A1 gene. The D2HGDH and L2HGDH genes provide instructions for making enzymes that are found in mitochondria, which are the energy-producing centers within cells. The enzymes break down compounds called D-2-hydroxyglutarate and L-2-hydroxyglutarate, respectively, as part of a series of reactions that produce energy for cell activities. Mutations in either of these genes lead to a shortage of functional enzyme, which allows D-2-hydroxyglutarate or L-2-hydroxyglutarate to build up in cells. At high levels, these compounds can damage cells and lead to cell death. Brain cells appear to be the most vulnerable to the toxic effects of these compounds, which may explain why the signs and symptoms of D-2-HGA type I and L-2-HGA primarily involve the brain. The IDH2 gene provides instructions for making an enzyme in mitochondria that normally produces a different compound. When the enzyme is altered by mutations, it takes on a new, abnormal function: production of the potentially toxic compound D-2-hydroxyglutarate. The resulting excess of this compound damages brain cells, leading to the signs and symptoms of D-2-HGA type II. It is unclear why an accumulation of D-2-hydroxyglutarate may be associated with cardiomyopathy in some people with this form of the condition. The SLC25A1 gene provides instructions for making a protein that transports certain molecules, such as citrate, in and out of mitochondria. Mutations in the SLC25A1 gene reduce the protein's function, which prevents it from carrying out this transport. Through processes that are not fully understood, a loss of this transport allows both D-2-hydroxyglutarate and L-2-hydroxyglutarate to build up, which damages brain cells. Researchers suspect that an imbalance of other molecules, particularly citrate, also contributes to the severe signs and symptoms of combined D,L-2-HGA.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is the outlook for Ovarian Epithelial, Fallopian Tube, and Primary Peritoneal Cancer ?"}, {"role": "assistant", "content": "Certain factors affect treatment options and prognosis (chance of recovery). The prognosis (chance of recovery) and treatment options depend on the following: - The type of ovarian cancer and how much cancer there is. - The stage and grade of the cancer. - Whether the patient has extra fluid in the abdomen that causes swelling. - Whether all of the tumor can be removed by surgery. - Whether there are changes in the BRCA1 or BRCA2 genes. - The patients age and general health. - Whether the cancer has just been diagnosed or has recurred (come back).", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Vertebral fusion posterior lumbosacral blepharoptosis ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Vertebral fusion posterior lumbosacral blepharoptosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Vertebral fusion posterior lumbosacral blepharoptosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal form of the vertebral bodies 90% Abnormality of the musculature 90% Ptosis 90% Vertebral segmentation defect 90% Limitation of joint mobility 50% Sacral dimple 50% Tarsal synostosis 50% Abnormality of metabolism/homeostasis - Autosomal dominant inheritance - Congenital ptosis - Posterior fusion of lumbosacral vertebrae - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to achondrogenesis ?"}, {"role": "assistant", "content": "Mutations in the TRIP11, SLC26A2, and COL2A1 genes cause achondrogenesis type 1A, type 1B, and type 2, respectively. The genetic cause of achondrogenesis type 1A was unknown until recently, when researchers discovered that the condition can result from mutations in the TRIP11 gene. This gene provides instructions for making a protein called GMAP-210. This protein plays a critical role in the Golgi apparatus, a cell structure in which newly produced proteins are modified so they can carry out their functions. Mutations in the TRIP11 gene prevent the production of functional GMAP-210, which alters the structure and function of the Golgi apparatus. Researchers suspect that cells called chondrocytes in the developing skeleton may be most sensitive to these changes. Chondrocytes give rise to cartilage, a tough, flexible tissue that makes up much of the skeleton during early development. Most cartilage is later converted to bone, except for the cartilage that continues to cover and protect the ends of bones and is present in the nose and external ears. Malfunction of the Golgi apparatus in chondrocytes likely underlies the problems with bone formation in achondrogenesis type 1A. Achondrogenesis type 1B is the most severe of a spectrum of skeletal disorders caused by mutations in the SLC26A2 gene. This gene provides instructions for making a protein that is essential for the normal development of cartilage and for its conversion to bone. Mutations in the SLC26A2 gene cause the skeletal problems characteristic of achondrogenesis type 1B by disrupting the structure of developing cartilage, which prevents bones from forming properly. Achondrogenesis type 2 is one of several skeletal disorders that result from mutations in the COL2A1 gene. This gene provides instructions for making a protein that forms type II collagen. This type of collagen is found mostly in cartilage and in the clear gel that fills the eyeball (the vitreous). It is essential for the normal development of bones and other connective tissues that form the body's supportive framework. Mutations in the COL2A1 gene interfere with the assembly of type II collagen molecules, which prevents bones and other connective tissues from developing properly.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Gas in the Digestive Tract ?"}, {"role": "assistant", "content": "Gas can be treated by reducing swallowed air, making dietary changes, or taking over-the-counter or prescription medications. People who think they have too much gas can try to treat gas on their own before seeing a health care provider. Health care providers can provide advice about reducing gas and prescribe medications that may help.\n \nReducing swallowed air. Swallowing less air may help reduce gas, especially for people who burp frequently. A health care provider may suggest eating more slowly, avoiding gum and hard candies, or checking with a dentist to make sure dentures fit correctly.\n \nMaking dietary changes. People may be able to reduce gas by eating less of the foods that cause gas. However, many healthy foods may cause gas, such as fruits and vegetables, whole grains, and milk products. The amount of gas caused by certain foods varies from person to person. Effective dietary changes depend on learning through trial and error which foods cause a person to have gas and how much of the offending foods one can handle.\n \nWhile fat does not cause gas, limiting high-fat foods can help reduce bloating and discomfort. Less fat in the diet helps the stomach empty faster, allowing gases to move more quickly into the small intestine.\n \nTaking over-the-counter medications. Some over-the-counter medications can help reduce gas or the symptoms associated with gas:\n \n- Alpha-galactosidase (Beano), an over-the-counter digestive aid, contains the sugar-digesting enzyme that the body lacks to digest the sugar in beans and many vegetables. The enzyme comes in liquid and tablet form. Five drops are added per serving or one tablet is swallowed just before eating to break down the gas-producing sugars. Beano has no effect on gas caused by lactose or fiber. - Simethicone (Gas-X, Mylanta Gas) can relieve bloating and abdominal pain or discomfort caused by gas. - Lactase tablets or drops can help people with lactose intolerance digest milk and milk products to reduce gas. Lactase tablets are taken just before eating foods that contain lactose; lactase drops can be added to liquid milk products. Lactose-free and lactose-reduced milk and milk products are available at most grocery stores.\n \nTaking prescription medications. Health care providers may prescribe medications to help reduce symptoms, especially for people with small intestinal bacterial overgrowth or IBS. More information about IBS is provided in the NIDDK health topic, Irritable Bowel Syndrome fact sheet.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Mowat-Wilson syndrome ?"}, {"role": "assistant", "content": "Mowat-Wilson syndrome (MWS) is a rare genetic disorder that affects many systems of the body. The main features include moderate to severe intellectual disability, distinctive facial features, and epilepsy. Other features may include Hirschsprung disease; heart (cardiac) defects; kidney (renal) abnormalities; genital abnormalities; eye abnormalities; and short stature. It is caused by a mutation or deletion in the ZEB2 gene, which usually occurs for the first time (sporadically) in affected people. Treatment typically focuses on the specific symptoms in each person.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by progressive supranuclear palsy ?"}, {"role": "assistant", "content": "The exact prevalence of progressive supranuclear palsy is unknown. It may affect about 6 in 100,000 people worldwide.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Microphthalmia syndromic 6 ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Microphthalmia syndromic 6? The Human Phenotype Ontology provides the following list of signs and symptoms for Microphthalmia syndromic 6. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia affecting the eye 90% Microphthalmia 90% Cataract 50% Chorioretinal coloboma 50% Cognitive impairment 50% Iris coloboma 50% Microcornea 50% Abnormality of the fingernails 7.5% Abnormality of the hypothalamus-pituitary axis 7.5% Abnormality of the palate 7.5% Abnormality of the palpebral fissures 7.5% Aplasia/Hypoplasia of the cerebellum 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Cryptorchidism 7.5% Finger syndactyly 7.5% Microcephaly 7.5% Myopia 7.5% Nystagmus 7.5% Postaxial foot polydactyly 7.5% Proximal placement of thumb 7.5% Sclerocornea 7.5% Seizures 7.5% Sensorineural hearing impairment 7.5% Myopia 3/3 Anophthalmia 9/10 Blindness 8/11 Coloboma 3/5 High palate 3/6 Microcephaly 3/6 Sclerocornea 2/5 Absent speech 2/6 Anterior hypopituitarism 2/6 Aplasia/Hypoplasia of the corpus callosum 3/9 Cryptorchidism 2/6 Failure to thrive 2/6 Hearing impairment 2/6 Microcornea 1/3 Muscular hypotonia 2/6 Nystagmus 1/3 Orbital cyst 1/3 Retinal dystrophy 1/3 Retrognathia 2/6 Ventriculomegaly 3/9 Cerebral cortical atrophy 2/9 Hypothyroidism 2/9 Inferior vermis hypoplasia 2/9 Female hypogonadism 1/5 Preaxial hand polydactyly 2/11 Adrenal hypoplasia 1/6 Bifid scrotum 1/6 Brachycephaly 1/6 Cleft palate 1/6 Hypospadias 1/6 Microglossia 1/6 Micropenis 1/6 Renal hypoplasia 1/6 Small sella turcica 1/6 Cerebellar hypoplasia 1/9 Plagiocephaly 1/9 Abnormality of the cervical spine 1/10 Facial asymmetry 1/10 Lambdoidal craniosynostosis 1/10 Clinodactyly of the 5th finger 1/11 Finger syndactyly 1/11 Flexion contracture of thumb 1/11 Low-set ears 1/11 Posteriorly rotated ears 1/11 Protruding ear 1/11 Short middle phalanx of finger 1/11 Autosomal dominant inheritance - Bifid uvula - Brachydactyly syndrome - Delayed CNS myelination - High forehead - Hypoplasia of midface - Macrotia - Malar flattening - Severe muscular hypotonia - Single transverse palmar crease - Small scrotum - Toe syndactyly - Uplifted earlobe - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Striatonigral degeneration infantile ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Striatonigral degeneration infantile? The Human Phenotype Ontology provides the following list of signs and symptoms for Striatonigral degeneration infantile. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Choreoathetosis - Developmental regression - Developmental stagnation - Dysphagia - Dystonia - Failure to thrive - Intellectual disability - Optic atrophy - Pendular nystagmus - Spasticity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Winchester syndrome ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of Winchester syndrome: - Genetic Testing Registry: Winchester syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is juvenile Batten disease inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is deafness and myopia syndrome inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Chronic Myelomonocytic Leukemia ?"}, {"role": "assistant", "content": "Key Points\n - Chronic myelomonocytic leukemia is a disease in which too many myelocytes and monocytes (immature white blood cells) are made in the bone marrow. - Older age and being male increase the risk of chronic myelomonocytic leukemia. - Signs and symptoms of chronic myelomonocytic leukemia include fever, weight loss, and feeling very tired. - Certain factors affect prognosis (chance of recovery) and treatment options.\n \n \n Chronic myelomonocytic leukemia is a disease in which too many myelocytes and monocytes (immature white blood cells) are made in the bone marrow.\n In chronic myelomonocytic leukemia (CMML), the body tells too many blood stem cells to become two types of white blood cells called myelocytes and monocytes. Some of these blood stem cells never become mature white blood cells. These immature white blood cells are called blasts. Over time, the myelocytes, monocytes, and blasts crowd out the red blood cells and platelets in the bone marrow. When this happens, infection, anemia, or easy bleeding may occur.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to histiocytosis-lymphadenopathy plus syndrome ?"}, {"role": "assistant", "content": "Histiocytosis-lymphadenopathy plus syndrome is caused by mutations in the SLC29A3 gene, which provides instructions for making a protein called equilibrative nucleoside transporter 3 (ENT3). ENT3 belongs to a family of proteins that transport molecules called nucleosides in cells. With chemical modification, nucleosides become the building blocks of DNA, its chemical cousin RNA, and molecules such as ATP and GTP, which serve as energy sources in the cell. Molecules derived from nucleosides play an important role in many functions throughout the body. ENT3 is found in cellular structures called lysosomes, which break down large molecules into smaller ones that can be reused by cells. Researchers believe that this protein transports nucleosides generated by the breakdown of DNA and RNA out of lysosomes into the cell so they can be reused. The protein is also thought to transport nucleosides into structures called mitochondria, which are the energy-producing centers of cells. In mitochondria, nucleosides are likely used in the formation or repair of DNA found in these structures, known as mitochondrial DNA. The SLC29A3 gene mutations involved in histiocytosis-lymphadenopathy plus syndrome reduce or eliminate the activity of the ENT3 protein. Researchers speculate that the resulting impairment of nucleoside transport leads to a buildup of nucleosides in lysosomes, which may be damaging to cell function. A lack of ENT3 activity may also lead to a reduction in the amount of nucleosides in mitochondria. This nucleoside shortage could impair cellular energy production, which would impact many body systems. It is unclear how the mutations lead to histiocytosis and other features of the condition or why affected individuals can have different patterns of signs and symptoms.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Late-Onset Familial Alzheimer Disease ?"}, {"role": "assistant", "content": "Late-onset familial Alzheimer disease is a form of familial Alzheimer disease that begins after age 65. In general, Alzheimer disease (AD) is a degenerative disease of the brain that causes gradual loss of memory, judgement and the ability to function socially. The exact underlying cause of late-onset familial AD is not completely understood; however, researchers suspect that it is a complex condition, which is likely associated with multiple susceptibility genes (such as the APOE e4 allele) in combination with environmental and lifestyle factors. Although complex conditions do tend to cluster in families, they do not follow a clear-cut pattern of inheritance. There is no cure for AD. Treatment is supportive and based on the signs and symptoms present in each person.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Hawkinsinuria ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Hawkinsinuria? The Human Phenotype Ontology provides the following list of signs and symptoms for Hawkinsinuria. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair quantity 90% Fine hair 90% Muscular hypotonia 50% Hypothyroidism 7.5% 4-Hydroxyphenylacetic aciduria - 4-Hydroxyphenylpyruvic aciduria - Autosomal dominant inheritance - Failure to thrive - Hypertyrosinemia - Metabolic acidosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is prothrombin thrombophilia inherited ?"}, {"role": "assistant", "content": "The risk of developing an abnormal clot in a blood vessel depends on whether a person inherits one or two copies of the F2 gene mutation that causes prothrombin thrombophilia. In the general population, the risk of developing an abnormal blood clot is about 1 in 1,000 people per year. Inheriting one copy of the F2 gene mutation increases that risk to 2 to 3 in 1,000. People who inherit two copies of the mutation, one from each parent, may have a risk as high as 20 in 1,000.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "what research (or clinical trials) is being done for Cavernous Malformation ?"}, {"role": "assistant", "content": "The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system, and to use that knowledge to reduce the burden of neurological disease. Studies of cerebral cavernous malformations (CCMs) show that alterations in the function of structural proteins may also give rise to vascular malformations. Currently there is no therapy to prevent the development or progression of CCMs. NINDS-funded scientists have developed an animal model that studies two of the familial genes related to the development of CCMs. Research shows that the protein signaling pathway Rhoa/ROCK, which allows cells to communicate regarding the formation of cell structure, is involved in blood vessel activity/ and the flow of molecules and cells into and out of blood vessels. These scientists hypothesize that blocking ROCK activity will inhibit CCM development and hemorrhage, and possibly create a therapy for these malformations.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Cirrhosis ?"}, {"role": "assistant", "content": "Cirrhosis is scarring of the liver. Scar tissue forms because of injury or long-term disease. Scar tissue cannot do what healthy liver tissue does - make protein, help fight infections, clean the blood, help digest food and store energy. Cirrhosis can lead to - Easy bruising or bleeding, or nosebleeds - Swelling of the abdomen or legs - Extra sensitivity to medicines - High blood pressure in the vein entering the liver - Enlarged veins called varices in the esophagus and stomach. Varices can bleed suddenly. - Kidney failure - Jaundice - Severe itching - Gallstones A small number of people with cirrhosis get liver cancer. Your doctor will diagnose cirrhosis with blood tests, imaging tests, or a biopsy. Cirrhosis has many causes. In the United States, the most common causes are chronic alcoholism and hepatitis. Nothing will make the scar tissue disappear, but treating the cause can keep it from getting worse. If too much scar tissue forms, you may need to consider a liver transplant. NIH: National Institute of Diabetes and Digestive and Kidney Diseases", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Who is at risk for Nutrition for Early Chronic Kidney Disease in Adults? ?"}, {"role": "assistant", "content": "Millions of Americans are at risk for developing CKD because they have diabetes, high blood pressure, or both. High blood glucose levels put people with diabetes at risk for heart disease, stroke, amputation, and eye and kidney problems. People with high blood pressure are at risk for damaged blood vessels, including tiny vessels in the kidneys.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Charcot-Marie-Tooth disease ?"}, {"role": "assistant", "content": "Charcot-Marie-Tooth disease is a group of disorders that affect the peripheral nerves, the nerves running from outside the brain and spine. Defects in many different genes cause different forms of this disease. Common symptoms may include foot drop, foot deformity, loss of lower leg muscle, numbness in the foot or leg, slapping\" gait (feet hit the floor hard when walking), and weakness of the hips, legs, or feet. There is currently no cure for Charcot-Marie-Tooth disease, but physical therapy, occupational therapy, braces and other orthopedic devices, pain medication, and orthopedic surgery can help manage and improve symptoms. There are over 40 types of Charcot-Marie-Tooth disease. You can search for more information on a particular type of Charcot-Marie-Tooth disease from the GARD Home page. Enter the name of the condition in the GARD search box, and then select the type from the drop down menu.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) adult-onset leukoencephalopathy with axonal spheroids and pigmented glia ?"}, {"role": "assistant", "content": "Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a neurological condition characterized by changes to certain areas of the brain. A hallmark of ALSP is leukoencephalopathy, which is the alteration of a type of brain tissue called white matter. White matter consists of nerve fibers (axons) covered by a substance called myelin that insulates and protects them. The axons extend from nerve cells (neurons) and transmit nerve impulses throughout the body. Areas of damage to this brain tissue (white matter lesions) can be seen with magnetic resonance imaging (MRI). Another feature of ALSP is swellings called spheroids in the axons of the brain, which are a sign of axon damage. Also common in ALSP are abnormally pigmented glial cells. Glial cells are specialized brain cells that protect and maintain neurons. Damage to myelin and neurons is thought to contribute to many of the neurological signs and symptoms in people with ALSP. Symptoms of ALSP usually begin in a person's forties and worsen over time. Personality changes, including depression and a loss of social inhibitions, are among the earliest symptoms of ALSP. Affected individuals may develop memory loss and loss of executive function, which is the ability to plan and implement actions and develop problem-solving strategies. Loss of this function impairs skills such as impulse control, self-monitoring, and focusing attention appropriately. Some people with ALSP have mild seizures, usually only when the condition begins. As ALSP progresses, it causes a severe decline in thinking and reasoning abilities (dementia). Over time, motor skills are affected, and people with ALSP may have difficulty walking. Many develop a pattern of movement abnormalities known as parkinsonism, which includes unusually slow movement (bradykinesia), involuntary trembling (tremor), and muscle stiffness (rigidity). The pattern of cognitive and motor problems are variable, even among individuals in the same family, although almost all affected individuals ultimately become unable to walk, speak, and care for themselves. ALSP was previously thought to be two separate conditions, hereditary diffuse leukoencephalopathy with spheroids (HDLS) and familial pigmentary orthochromatic leukodystrophy (POLD), both of which cause very similar white matter damage and cognitive and movement problems. POLD was thought to be distinguished by the presence of pigmented glial cells and an absence of spheroids; however, people with HDLS can have pigmented cells, too, and people with POLD can have spheroids. HDLS and POLD are now considered to be part of the same disease spectrum, which researchers have recommended calling ALSP.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What to do for Acquired Cystic Kidney Disease ?"}, {"role": "assistant", "content": "- Acquired cystic kidney disease happens when a person's kidneys develop fluid-filled sacs, called cysts, over time. - Acquired cystic kidney disease occurs in children and adults who have - chronic kidney disease (CKD) - end-stage kidney disease (ESRD) - People with acquired cystic kidney disease may develop the following complications: - an infected cyst, which can cause fever and back pain - blood in the urine, which can signal that a cyst in the kidney is bleeding - tumors in the kidneys - To confirm the diagnosis, the health care provider may order one or more imaging tests: - Ultrasound - Computerized tomography (CT) scan - Magnetic resonance imaging (MRI) - If acquired cystic kidney disease is not causing complications, a person does not need treatment. - A health care provider will treat infections with antibioticsmedications that kill bacteria. - If large cysts are causing pain, a health care provider may drain the cyst using a long needle inserted into the cyst through the skin. - A surgeon may perform an operation to remove tumors or suspected tumors. In rare cases, a surgeon performs an operation to stop cysts from bleeding.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Noonan syndrome ?"}, {"role": "assistant", "content": "How might Noonan syndrome be treated? Management generally focuses on the specific signs and symptoms present in each person. Treatments for the complications of Noonan syndrome (such as cardiovascular abnormalities) are generally standard and do not differ from treatment in the general population. Developmental disabilities are addressed by early intervention programs and individualized education strategies. Treatment for serious bleeding depends upon the specific factor deficiency or platelet abnormality. Growth hormone treatment increases growth velocity. More detailed information about treatment for Noonan syndrome can be viewed on the GeneReviews Web site.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for catecholaminergic polymorphic ventricular tachycardia ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of catecholaminergic polymorphic ventricular tachycardia: - Cleveland Clinic: Management of Arrhythmias - Gene Review: Gene Review: Catecholaminergic Polymorphic Ventricular Tachycardia - Genetic Testing Registry: Catecholaminergic polymorphic ventricular tachycardia - Genetic Testing Registry: Ventricular tachycardia, catecholaminergic polymorphic, 2 - MedlinePlus Encyclopedia: Fainting - MedlinePlus Encyclopedia: Ventricular Tachycardia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Ehlers-Danlos syndrome, spondylocheirodysplastic type ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Ehlers-Danlos syndrome, spondylocheirodysplastic type ? The Human Phenotype Ontology provides the following list of signs and symptoms for Ehlers-Danlos syndrome, spondylocheirodysplastic type . If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Blue sclerae 90% Bruising susceptibility 90% Hyperextensible skin 90% Proptosis 90% Short stature 90% Skeletal dysplasia 90% Thin skin 90% Abnormality of epiphysis morphology 50% Abnormality of the metaphyses 50% Absent palmar crease 50% Platyspondyly 50% Reduced bone mineral density 50% Skeletal muscle atrophy 50% Tapered finger 50% Flexion contracture 7.5% Autosomal recessive inheritance - Bifid uvula - Broad femoral neck - Camptodactyly of finger - Cigarette-paper scars - Delayed eruption of teeth - Dental malocclusion - Flat capital femoral epiphysis - High palate - Hypodontia - Irregular vertebral endplates - Joint laxity - Metaphyseal widening - Moderately short stature - Osteopenia - Pes planus - Short femoral neck - Short metacarpal - Short phalanx of finger - Thenar muscle atrophy - Waddling gait - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is the outlook for Extragonadal Germ Cell Tumors ?"}, {"role": "assistant", "content": "Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - Whether the tumor is nonseminoma or seminoma. - The size of the tumor and where it is in the body. - The blood levels of AFP, -hCG, and LDH. - Whether the tumor has spread to other parts of the body. - The way the tumor responds to initial treatment. - Whether the tumor has just been diagnosed or has recurred (come back).", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) hereditary sensory and autonomic neuropathy type V ?"}, {"role": "assistant", "content": "Hereditary sensory and autonomic neuropathy type V (HSAN5) is a condition that primarily affects the sensory nerve cells (sensory neurons), which transmit information about sensations such as pain, temperature, and touch. These sensations are impaired in people with HSAN5. The signs and symptoms of HSAN5 appear early, usually at birth or during infancy. People with HSAN5 lose the ability to feel pain, heat, and cold. Deep pain perception, the feeling of pain from injuries to bones, ligaments, or muscles, is especially affected in people with HSAN5. Because of the inability to feel deep pain, affected individuals suffer repeated severe injuries such as bone fractures and joint injuries that go unnoticed. Repeated trauma can lead to a condition called Charcot joints, in which the bones and tissue surrounding joints are destroyed.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Niemann-Pick disease type A ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Niemann-Pick disease type A? The Human Phenotype Ontology provides the following list of signs and symptoms for Niemann-Pick disease type A. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cherry red spot of the macula 50% Athetosis - Autosomal recessive inheritance - Bone-marrow foam cells - Constipation - Diffuse reticular or finely nodular infiltrations - Failure to thrive - Feeding difficulties in infancy - Foam cells with lamellar inclusion bodies - Hepatomegaly - Hyporeflexia - Infantile onset - Intellectual disability - Lymphadenopathy - Microcytic anemia - Muscle weakness - Muscular hypotonia - Osteoporosis - Protuberant abdomen - Recurrent respiratory infections - Rigidity - Sea-blue histiocytosis - Short stature - Spasticity - Splenomegaly - Vomiting - Xanthomatosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) xeroderma pigmentosum ?"}, {"role": "assistant", "content": "Xeroderma pigmentosum, which is commonly known as XP, is an inherited condition characterized by an extreme sensitivity to ultraviolet (UV) rays from sunlight. This condition mostly affects the eyes and areas of skin exposed to the sun. Some affected individuals also have problems involving the nervous system. The signs of xeroderma pigmentosum usually appear in infancy or early childhood. Many affected children develop a severe sunburn after spending just a few minutes in the sun. The sunburn causes redness and blistering that can last for weeks. Other affected children do not get sunburned with minimal sun exposure, but instead tan normally. By age 2, almost all children with xeroderma pigmentosum develop freckling of the skin in sun-exposed areas (such as the face, arms, and lips); this type of freckling rarely occurs in young children without the disorder. In affected individuals, exposure to sunlight often causes dry skin (xeroderma) and changes in skin coloring (pigmentation). This combination of features gives the condition its name, xeroderma pigmentosum. People with xeroderma pigmentosum have a greatly increased risk of developing skin cancer. Without sun protection, about half of children with this condition develop their first skin cancer by age 10. Most people with xeroderma pigmentosum develop multiple skin cancers during their lifetime. These cancers occur most often on the face, lips, and eyelids. Cancer can also develop on the scalp, in the eyes, and on the tip of the tongue. Studies suggest that people with xeroderma pigmentosum may also have an increased risk of other types of cancer, including brain tumors. Additionally, affected individuals who smoke cigarettes have a significantly increased risk of lung cancer. The eyes of people with xeroderma pigmentosum may be painfully sensitive to UV rays from the sun. If the eyes are not protected from the sun, they may become bloodshot and irritated, and the clear front covering of the eyes (the cornea) may become cloudy. In some people, the eyelashes fall out and the eyelids may be thin and turn abnormally inward or outward. In addition to an increased risk of eye cancer, xeroderma pigmentosum is associated with noncancerous growths on the eye. Many of these eye abnormalities can impair vision. About 30 percent of people with xeroderma pigmentosum develop progressive neurological abnormalities in addition to problems involving the skin and eyes. These abnormalities can include hearing loss, poor coordination, difficulty walking, movement problems, loss of intellectual function, difficulty swallowing and talking, and seizures. When these neurological problems occur, they tend to worsen with time. Researchers have identified at least eight inherited forms of xeroderma pigmentosum: complementation group A (XP-A) through complementation group G (XP-G) plus a variant type (XP-V). The types are distinguished by their genetic cause. All of the types increase skin cancer risk, although some are more likely than others to be associated with neurological abnormalities.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Pneumonia ?"}, {"role": "assistant", "content": "The signs and symptoms of pneumonia vary from mild to severe. Many factors affect how serious pneumonia is, including the type of germ causing the infection and your age and overall health. (For more information, go to \"Who Is at Risk for Pneumonia?\")\n \nSee your doctor promptly if you:\n \nHave a high fever\n \nHave shaking chills\n \nHave a cough with phlegm (a slimy substance), which doesn't improve or worsens\n \nDevelop shortness of breath with normal daily activities\n \nHave chest pain when you breathe or cough\n \nFeel suddenly worse after a cold or the flu\n \nPeople who have pneumonia may have other symptoms, including nausea (feeling sick to the stomach), vomiting, and diarrhea.\n \nSymptoms may vary in certain populations. Newborns and infants may not show any signs of the infection. Or, they may vomit, have a fever and cough, or appear restless, sick, or tired and without energy.\n \nOlder adults and people who have serious illnesses or weak immune systems may have fewer and milder symptoms. They may even have a lower than normal temperature. If they already have a lung disease, it may get worse. Older adults who have pneumonia sometimes have sudden changes in mental awareness.\n \nComplications of Pneumonia\n \nOften, people who have pneumonia can be successfully treated and not have complications. But some people, especially those in high-risk groups, may have complications such as:\n \nBacteremia (bak-ter-E-me-ah). This serious complication occurs if the infection moves into your bloodstream. From there, it can quickly spread to other organs, including your brain.\n \nLung abscesses. An abscess occurs if pus forms in a cavity in the lung. An abscess usually is treated with antibiotics. Sometimes surgery or drainage with a needle is needed to remove the pus.\n \nPleural effusion. Pneumonia may cause fluid to build up in the pleural space. This is a very thin space between two layers of tissue that line the lungs and the chest cavity. Pneumonia can cause the fluid to become infecteda condition called empyema (em-pi-E-ma). If this happens, you may need to have the fluid drained through a chest tube or removed with surgery.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "what research (or clinical trials) is being done for Alzheimer's Disease ?"}, {"role": "assistant", "content": "Clinical research is medical research involving people. It includes clinical studies, which observe and gather information about large groups of people. It also includes clinical trials, which test a medicine, therapy, medical device, or intervention in people to see if it is safe and effective. Clinical trials are the best way to find out whether a particular intervention actually slows, delays, or prevents Alzheimers disease. Trials may compare a potential new treatment with a standard treatment or placebo (mock treatment). Or, they may study whether a certain behavior or condition affects the progress of Alzheimers or the chances of developing it. See the latest Alzheimers Disease Progress Report to read about results of NIA-supported Alzheimers research.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Hyperkalemic periodic paralysis ?"}, {"role": "assistant", "content": "Hyperkalemic periodic paralysis is a genetic condition that causes episodes of extreme muscle weakness, usually beginning in infancy or early childhood. Most often, these episodes involve a temporary inability to move muscles in the arms and legs. Episodes tend to increase in frequency until about age 25, after which they may occur less frequently. Factors that can trigger attacks include rest after exercise, potassium-rich foods, stress, fatigue, and long periods without food. Muscle strength improves between attacks, although many affected people continue to experience mild stiffness, particularly in muscles of the face and hands. This condition is caused by mutations in the SCN4A gene and is inherited in an autosomal dominant fashion.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to retinal arterial macroaneurysm with supravalvular pulmonic stenosis ?"}, {"role": "assistant", "content": "RAMSVPS is caused by a mutation in the IGFBP7 gene. This gene provides instructions for making a protein called insulin-like growth factor-binding protein 7 (IGFBP7). The IGFBP7 protein is active in the lining of blood vessels (the vascular endothelium). It is thought to help stop a pathway called BRAF signaling, which is involved in directing cell growth. The IGFBP7 gene mutation that causes RAMSVPS results in an abnormally short IGFBP7 protein that does not function properly. Without normally functioning IGFBP7 protein to control BRAF signaling, this signaling is increased. It is unknown how this increase is related to the specific blood vessel abnormalities that occur in RAMSVPS, or why these abnormalities are confined to the eyes and the pulmonary artery. Researchers suggest that differences in normal levels of IGFBP7 protein in various parts of the body or the presence of other proteins with a similar function in different tissues may account for the specific signs and symptoms of this disorder.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Hypohidrotic ectodermal dysplasia ?"}, {"role": "assistant", "content": "Is genetic testing available for hypohidrotic ectodermal dysplasia? Yes. Genetic testing for hypohidrotic ectodermal dysplasia is available. In most cases, hypohidrotic ectodermal dysplasia can be diagnosed after infancy based upon the physical features in the affected child. Genetic testing may be ordered to confirm the diagnosis. Other reasons for testing may include to identify carriers or for prenatal diagnosis. Clinical testing is available for detection of disease causing mutations in the EDA, EDAR, and EDARADD genes. We recommend that you speak with a health care provider or a genetics professional to learn more about your testing options. The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to Ehlers-Danlos syndrome ?"}, {"role": "assistant", "content": "Mutations in more than a dozen genes have been found to cause Ehlers-Danlos syndrome. The classical type results most often from mutations in either the COL5A1 gene or the COL5A2 gene. Mutations in the TNXB gene have been found in a very small percentage of cases of the hypermobility type (although in most cases, the cause of this type is unknown). The vascular type results from mutations in the COL3A1 gene. PLOD1 gene mutations cause the kyphoscoliosis type. Mutations in the COL1A1 gene or the COL1A2 gene result in the arthrochalasia type. The dermatosparaxis type is caused by mutations in the ADAMTS2 gene. The other, less well-characterized forms of Ehlers-Danlos syndrome result from mutations in other genes, some of which have not been identified. Some of the genes associated with Ehlers-Danlos syndrome, including COL1A1, COL1A2, COL3A1, COL5A1, and COL5A2, provide instructions for making pieces of several different types of collagen. These pieces assemble to form mature collagen molecules that give structure and strength to connective tissues throughout the body. Other genes, including ADAMTS2, PLOD1, and TNXB, provide instructions for making proteins that process or interact with collagen. Mutations that cause the different forms of Ehlers-Danlos syndrome disrupt the production or processing of collagen, preventing these molecules from being assembled properly. These defects weaken connective tissues in the skin, bones, and other parts of the body, resulting in the characteristic features of this condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Pulmonary arterial hypertension ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Pulmonary arterial hypertension? The Human Phenotype Ontology provides the following list of signs and symptoms for Pulmonary arterial hypertension. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Pulmonary hypertension 100% Chest pain 90% Elevated right atrial pressure 90% Increased pulmonary vascular resistance 90% Respiratory insufficiency 90% Right ventricular failure 90% Right ventricular hypertrophy 90% Edema of the lower limbs 50% Hepatomegaly 50% Vertigo 50% Abnormal thrombosis 33% Dyspnea 33% Pulmonary arterial medial hypertrophy 33% Pulmonary artery vasoconstriction 33% Pulmonary aterial intimal fibrosis 33% Abnormality of the tricuspid valve 7.5% Acrocyanosis 7.5% Ascites 7.5% Congestive heart failure 7.5% Hemoptysis 7.5% Recurrent respiratory infections 7.5% Sudden cardiac death 7.5% Arterial intimal fibrosis - Autosomal dominant inheritance - Hypertension - Incomplete penetrance - Telangiectasia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "what research (or clinical trials) is being done for Wilms Tumor and Other Childhood Kidney Tumors ?"}, {"role": "assistant", "content": "New types of treatment are being tested in clinical trials.\n Information about clinical trials is available from the NCI website. Targeted therapy Targeted therapy is a treatment that uses drugs or other substances to identify and attack specific cancer cells without harming normal cells. Targeted therapy used to treat childhood kidney tumors may include the following: - Monoclonal antibodies: This targeted therapy uses antibodies made in the laboratory, from a single type of immune system cell. These antibodies can identify substances on cancer cells or normal substances that may help cancer cells grow. The antibodies attach to the substances and kill the cancer cells, block their growth, or keep them from spreading. Monoclonal antibodies are given by infusion. They may be used alone or to carry drugs, toxins, or radioactive material directly to cancer cells. Lorvotuzumab is being studied in the treatment of recurrent Wilms tumor. - Kinase inhibitors: This targeted therapy blocks signals that cancer cells need to grow and divide. LOXO-101 and entrectinib are kinase inhibitors being studied to treat congenital mesoblastic nephroma. - Histone methyltransferase inhibitors: This targeted therapy slows down the cancer cell's ability to grow and divide. Tazemetostat is being studied in the treatment of rhabdoid tumor of the kidney.\n \n \n Patients may want to think about taking part in a clinical trial.\n For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward.\n \n \n Patients can enter clinical trials before, during, or after starting their cancer treatment.\n Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Rasmussen's Encephalitis ?"}, {"role": "assistant", "content": "Anti-epileptic drugs are usually not effective in controlling seizures. Recent studies have shown some success with treatments that suppress or modulate the immune system, in particular those that use corticosteroids, intravenous immunoglobulin, or tacrolimus. Surgery to control seizures may be performed in later stages of the disease when neurological deficits stabilize. Surgical procedures, such as functional hemispherectomy and hemispherotomy, may reduce the frequency of seizures and also improve behavior and cognitive abilities.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for hypermanganesemia with dystonia, polycythemia, and cirrhosis ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of HMDPC: - Gene Review: Gene Review: Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease - Genetic Testing Registry: Hypermanganesemia with dystonia, polycythemia and cirrhosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is the outlook for Alpers' Disease ?"}, {"role": "assistant", "content": "The prognosis for individuals with Alpers' disease is poor. Those with the disease usually die within their first decade of life. Continuous, unrelenting seizures often lead to death. Liver failure and cardiorespiratory failure due to brain, spinal cord, and nerve involvement may also occur.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Immunotactoid or fibrillary glomerulopathy ?"}, {"role": "assistant", "content": "Immunotactoid or fibrillary glomerulopathy is a term that includes two conditions: immunotactoid glomerulopathy and fibrillary glomerulonephritis, which are uncommon causes of glomerular disease. Most experts feel that fibrillary glomerulonephritis and immunotactoid glomerulopathy are separate disorders but they have many similarities and some experts group these disorders together. Fibrillary glomerulonephritis and immunotactoid glomerulopathy can be distinguished from each other by electron microscopy; the 'fibrils' that characterize fibrillary glomerulonephritis are smaller and randomly oriented as opposed to the larger and organized fibrils of immunotactoid glomerulopathy which also have microtubule formations. Both disorders probably result from deposits derived from immunoglobulins but in most cases the cause is idiopathic (unknown). The signs and symptoms are similar in both diseases and may include blood (hematuria) and protein (proteinuria) in the urine, kidney insufficiency and high blood pressure. Fibrillary glomeurlonephritis is much more common than immunotactoid glomerulopathy. Both fibrillary glomerulonephritis and immunotactoid glomerulopathy have been associated with hepatitis C virus infection and with malignancy and autoimmune disease, but immunotactoid glomerulopathy patients have a greater predisposition to chronic lymphocytic leukemia and B cell lymphomas. All patients should be screened for these conditions. It is also important to rule out another disease known as amyloidosis. When the fibrils are stained with an acid dye known as \"Congo red\" the results are negative. In amyloidosis the results are positive because the dye is absorbed by the amyloids. Treatment is generally determined by the severity of the kidney problems.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for DOLK-congenital disorder of glycosylation ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of DOLK-CDG: - Gene Review: Gene Review: Congenital Disorders of N-Linked Glycosylation Pathway Overview - Genetic Testing Registry: Congenital disorder of glycosylation type 1M - MedlinePlus Encyclopedia: Dilated Cardiomyopathy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by DMD-associated dilated cardiomyopathy ?"}, {"role": "assistant", "content": "DMD-associated dilated cardiomyopathy appears to be an uncommon condition, although its prevalence is unknown.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Multiple system atrophy ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Multiple system atrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Multiple system atrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 5% Adult onset - Anhidrosis - Ataxia - Autosomal dominant inheritance - Autosomal recessive inheritance - Babinski sign - Bradykinesia - Dysarthria - Dysautonomia - Gaze-evoked nystagmus - Hyperreflexia - Hypohidrosis - Impotence - Iris atrophy - Neurodegeneration - Olivopontocerebellar atrophy - Orthostatic hypotension - Parkinsonism - Phenotypic variability - Postural instability - Progressive - Ptosis - Rigidity - Skeletal muscle atrophy - Sporadic - Tremor - Urinary incontinence - Urinary urgency - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is neuroblastoma inherited ?"}, {"role": "assistant", "content": "Most people with neuroblastoma have sporadic neuroblastoma, meaning the condition arose from somatic mutations in the body's cells and was not inherited. About 1 to 2 percent of affected individuals have familial neuroblastoma. This form of the condition has an autosomal dominant inheritance pattern, which means one copy of the altered gene in each cell increases the risk of developing the disorder. However, the inheritance is considered to have incomplete penetrance because not everyone who inherits the altered gene from a parent develops neuroblastoma. Having the altered gene predisposes an individual to develop neuroblastoma, but an additional somatic mutation is probably needed to cause the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What to do for Glomerular Diseases ?"}, {"role": "assistant", "content": "- The kidneys filter waste and extra fluid from the blood. - The filtering process takes place in the nephron, where microscopic blood vessel filters, called glomeruli, are attached to fluid-collecting tubules. - A number of different disease processes can damage the glomeruli and thereby cause kidney failure. Glomerulonephritis and glomerulosclerosis are broad terms that include many forms of damage to the glomeruli. - Some forms of kidney failure can be slowed down, but scarred glomeruli can never be repaired. - Treatment for the early stages of kidney failure depends on the disease causing the damage. - Early signs of kidney failure include blood or protein in the urine and swelling in the hands, feet, abdomen, or face. Kidney failure may be silent for many years.\n \nThe Nephrotic Syndrome\n \n- The nephrotic syndrome is a condition marked by very high levels of protein in the urine; low levels of protein in the blood; swelling, especially around the eyes, feet, and hands; and high cholesterol. - The nephrotic syndrome is a set of symptoms, not a disease in itself. It can occur with many diseases, so prevention relies on controlling the diseases that cause it. - Treatment of the nephrotic syndrome focuses on identifying and treating the underlying cause, if possible, and reducing high cholesterol, blood pressure, and protein in the urine through diet, medication, or both. - The nephrotic syndrome may go away once the underlying cause, if known, is treated. However, often a kidney disease is the underlying cause and cannot be cured. In these cases, the kidneys may gradually lose their ability to filter wastes and excess water from the blood. If kidney failure occurs, the patient will need to be on dialysis or have a kidney transplant.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Dravet syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Dravet syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Dravet syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Absence seizures - Ataxia - Autosomal dominant inheritance - Cerebral atrophy - Cortical visual impairment - Epileptic encephalopathy - Focal seizures with impairment of consciousness or awareness - Generalized myoclonic seizures - Hemiclonic seizures - Infantile onset - Mental deterioration - Motor delay - Postnatal microcephaly - Status epilepticus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Juvenile Myelomonocytic Leukemia ?"}, {"role": "assistant", "content": "Key Points\n - Juvenile myelomonocytic leukemia is a childhood disease in which too many myelocytes and monocytes (immature white blood cells) are made in the bone marrow. - Signs and symptoms of juvenile myelomonocytic leukemia include fever, weight loss, and feeling very tired. - Certain factors affect prognosis (chance of recovery) and treatment options.\n \n \n Juvenile myelomonocytic leukemia is a childhood disease in which too many myelocytes and monocytes (immature white blood cells) are made in the bone marrow.\n Juvenile myelomonocytic leukemia (JMML) is a rare childhood cancer that occurs more often in children younger than 2 years. Children who have neurofibromatosis type 1 and males have an increased risk of juvenile myelomonocytic leukemia. In JMML, the body tells too many blood stem cells to become two types of white blood cells called myelocytes and monocytes. Some of these blood stem cells never become mature white blood cells. These immature white blood cells are called blasts. Over time, the myelocytes, monocytes, and blasts crowd out the red blood cells and platelets in the bone marrow. When this happens, infection, anemia, or easy bleeding may occur.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for propionic acidemia ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of propionic acidemia: - Baby's First Test - Gene Review: Gene Review: Propionic Acidemia - Genetic Testing Registry: Propionic acidemia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Isovaleric acidemia ?"}, {"role": "assistant", "content": "How might isovaleric acidemia be treated? There is currently no cure for isovaleric acidemia (IVA). Upon diagnosis, immediate treatment is typically necessary in order to prevent metabolic crises and complications that may follow. It is often recommended that affected individuals have a low-leucine / low-protein diet and use medical foods (such as special low-protein flours, pastas, and rice that are made especially for people with organic acid disorders) and leucine-free medical formula. A dietician with knowledge of IVA can help parents create a food plan that contains the right amount of protein, nutrients, and energy to keep the child healthy. Any diet changes should be under the guidance of a dietician. Medications that may be recommended include glycine and L-carnitine, which help rid the body of unwanted isovaleric acid and other harmful substances. No medication or supplement should be used without checking with a metabolic doctor. Children with symptoms of a metabolic crisis need medical treatment right away and may be given bicarbonate, glucose, and other medications by IV. With prompt and careful treatment, children with IVA have a good chance to live healthy lives with normal growth and development. However, some children, even when treated, may have repeated metabolic crises which can lead to life-long learning problems or mental retardation.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is the outlook for Menkes Disease ?"}, {"role": "assistant", "content": "Since newborn screening for this disorder is not available, and early detection is infrequent because the clinical signs of Menkes disease are subtle in the beginning, the disease is rarely treated early enough to make a significant difference. The prognosis for babies with Menkes disease is poor. Most children with Menkes disease die within the first decade of life.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Orofaciodigital syndrome 5 ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Orofaciodigital syndrome 5? The Human Phenotype Ontology provides the following list of signs and symptoms for Orofaciodigital syndrome 5. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Median cleft lip 90% Postaxial hand polydactyly 90% Abnormality of the oral cavity 7.5% Brachydactyly syndrome 7.5% Epicanthus 7.5% Facial asymmetry 7.5% Finger syndactyly 7.5% Preaxial hand polydactyly 7.5% Aganglionic megacolon 5% Agenesis of corpus callosum 5% Bifid uvula 5% Cleft palate 5% Scoliosis 5% Autosomal recessive inheritance - Frontal bossing - Hypertelorism - Intellectual disability - Lobulated tongue - Postaxial foot polydactyly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Weissenbacher-Zweymller syndrome ?"}, {"role": "assistant", "content": "Weissenbacher-Zweymller syndrome is a condition that affects bone growth. It is characterized by skeletal abnormalities, hearing loss, and distinctive facial features. This condition has features that are similar to those of another skeletal disorder, otospondylomegaepiphyseal dysplasia (OSMED). Infants born with Weissenbacher-Zweymller syndrome are smaller than average because the bones in their arms and legs are unusually short. The thigh and upper arm bones are shaped like dumbbells, and the bones of the spine (vertebrae) may also be abnormally shaped. High-tone hearing loss occurs in some cases. Distinctive facial features include wide-set protruding eyes, a small, upturned nose with a flat bridge, and a small lower jaw. Some affected infants are born with an opening in the roof of the mouth (a cleft palate). The skeletal features of Weissenbacher-Zweymller syndrome tend to diminish during childhood. Most adults with this condition are not unusually short, but do still retain the other features of Weissenbacher-Zweymller syndrome.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is epidermal nevus inherited ?"}, {"role": "assistant", "content": "This condition is generally not inherited but arises from mutations in the body's cells that occur after conception. This alteration is called a somatic mutation. Occasionally, the somatic mutation occurs in a person's reproductive cells (sperm or eggs) and is passed to the next generation. An inherited FGFR3 gene mutation is found in every cell in the body, which results in skeletal abnormalities rather than epidermal nevus.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Creutzfeldt-Jakob disease ?"}, {"role": "assistant", "content": "How is Creutzfeldt-Jakob disease diagnosed? There is currently no single diagnostic test for Creutzfeldt-Jakob disease (CJD). When a doctor suspects CJD, the first concern is to rule out treatable forms of dementia such as encephalitis (inflammation of the brain) or chronic meningitis. A neurological examination will be performed and the doctor may seek consultation with other physicians. Standard diagnostic tests will include a spinal tap to rule out more common causes of dementia and an electroencephalogram (EEG) to record the brains electrical pattern, which can be particularly valuable because it shows a specific type of abnormality in CJD. Computerized tomography of the brain can help rule out the possibility that the symptoms result from other problems such as stroke or a brain tumor. Magnetic resonance imaging (MRI) brain scans also can reveal characteristic patterns of brain degeneration that can help diagnose CJD. The only way to confirm a diagnosis of CJD is by brain biopsy or autopsy. In a brain biopsy, a neurosurgeon removes a small piece of tissue from the patients brain so that it can be examined by a neuropathologist. This procedure may be dangerous for the patient, and the operation does not always obtain tissue from the affected part of the brain. Because a correct diagnosis of CJD does not help the patient, a brain biopsy is discouraged unless it is needed to rule out a treatable disorder. In an autopsy, the whole brain is examined after death. Scientists are working to develop laboratory tests for CJD. One such test, developed at the National Institute of Neurological Disorders and Stroke (NINDS) at the National Institutes of Health (NIH), studies a person's cerebrospinal fluid to see of it contains a protein marker that indicates neuronal degeneration.This can help to diagnose CJD in people who already show the clinical symptoms of the disease. This test is much easier and safer than a brain biopsy. The false positive rate is about 5 to 10 percent. Scientists are working to develop this test for use in commercial laboratories. They are also working to develop other tests for this disorder.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Lung Cancer ?"}, {"role": "assistant", "content": "Lung cancer occurs when malignant tumors form in the tissue of the lung. The lungs are a pair of sponge-like organs. The right lung has three sections, called lobes, and is larger than the left lung, which has two lobes.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Gastrointestinal Carcinoid Tumors ?"}, {"role": "assistant", "content": "Imaging studies and tests that examine the blood and urine are used to detect (find) and diagnose gastrointestinal carcinoid tumors. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken. - Blood chemistry studies : A procedure in which a blood sample is checked to measure the amounts of certain substances, such as hormones, released into the blood by organs and tissues in the body. An unusual (higher or lower than normal) amount of a substance can be a sign of disease. The blood sample is checked to see if it contains a hormone produced by carcinoid tumors. This test is used to help diagnose carcinoid syndrome. - Tumor marker test : A procedure in which a sample of blood, urine, or tissue is checked to measure the amounts of certain substances, such as chromogranin A, made by organs, tissues, or tumor cells in the body. Chromogranin A is a tumor marker. It has been linked to neuroendocrine tumors when found in increased levels in the body. - Twenty-four-hour urine test: A test in which urine is collected for 24 hours to measure the amounts of certain substances, such as 5-HIAA or serotonin (hormone). An unusual (higher or lower than normal) amount of a substance can be a sign of disease in the organ or tissue that makes it. This test is used to help diagnose carcinoid syndrome. - MIBG scan : A procedure used to find neuroendocrine tumors, such as carcinoid tumors. A very small amount of radioactive material called MIBG (metaiodobenzylguanidine) is injected into a vein and travels through the bloodstream. Carcinoid tumors take up the radioactive material and are detected by a device that measures radiation. - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body. This procedure is also called nuclear magnetic resonance imaging - PET scan (positron emission tomography scan): A procedure to find malignant tumor cells in the body. A small amount of radioactive glucose (sugar) is injected into a vein. The PET scanner rotates around the body and makes a picture of where glucose is being used in the body. Malignant tumor cells show up brighter in the picture because they are more active and take up more glucose than normal cells. - Endoscopic ultrasound (EUS): A procedure in which an endoscope is inserted into the body, usually through the mouth or rectum. An endoscope is a thin, tube-like instrument with a light and a lens for viewing. A probe at the end of the endoscope is used to bounce high-energy sound waves (ultrasound) off internal tissues or organs, such as the stomach, small intestine, colon, or rectum, and make echoes. The echoes form a picture of body tissues called a sonogram. This procedure is also called endosonography. - Upper endoscopy : A procedure to look at organs and tissues inside the body to check for abnormal areas. An endoscope is inserted through the mouth and passed through the esophagus into the stomach. Sometimes the endoscope also is passed from the stomach into the small intestine. An endoscope is a thin, tube-like instrument with a light and a lens for viewing. It may also have a tool to remove tissue or lymph node samples, which are checked under a microscope for signs of disease. - Colonoscopy : A procedure to look inside the rectum and colon for polyps, abnormal areas, or cancer. A colonoscope is inserted through the rectum into the colon. A colonoscope is a thin, tube-like instrument with a light and a lens for viewing. It may also have a tool to remove polyps or tissue samples, which are checked under a microscope for signs of cancer. - Capsule endoscopy : A procedure used to see all of the small intestine. The patient swallows a capsule that contains a tiny camera. As the capsule moves through the gastrointestinal tract, the camera takes pictures and sends them to a receiver worn on the outside of the body. - Biopsy : The removal of cells or tissues so they can be viewed under a microscope to check for signs of cancer. Tissue samples may be taken during endoscopy and colonoscopy.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is the outlook for Kidney Dysplasia ?"}, {"role": "assistant", "content": "The long-term outlook for a child with kidney dysplasia in both kidneys is different from the long-term outlook for a child with one dysplastic kidney. A child with kidney dysplasia in both kidneys\n \n- is more likely to develop CKD. - needs close follow-up with a pediatric nephrologista doctor who specializes in caring for children with kidney disease. Children who live in areas that dont have a pediatric nephrologist available can see a nephrologist who cares for both children and adults. - may eventually need dialysis or a kidney transplant.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Synovial Chondromatosis ?"}, {"role": "assistant", "content": "Synovial chondromatosis is a type of non-cancerous tumor that arises in the lining of a joint. The knee is most commonly affected, however it can affect any joint. The tumors begin as small nodules of cartilage. These nodules can separate and become loose within the joint. Some tumors may be no larger than a grain of rice. Synovial chondromatosis most commonly occurs in adults ages 20 to 50. Signs and symptoms may include pain, swelling, a decreased range of motion, and locking of the joint. The exact underlying cause of the condition is unknown. Treatment may involve surgery to remove the tumor. Recurrence of the condition is common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Diverticular Disease ?"}, {"role": "assistant", "content": "A health care provider may treat the symptoms of diverticulosis with a high-fiber diet or fiber supplements, medications, and possibly probiotics. Treatment for diverticular disease varies, depending on whether a person has diverticulitis or diverticular bleeding.\n \nDiverticulosis\n \nHigh-fiber diet. Studies have shown that a high-fiber diet can help prevent diverticular disease in people who already have diverticulosis.2 A health care provider may recommend a slow increase in dietary fiber to minimize gas and abdominal discomfort. For more information about fiber-rich foods, see Eating, Diet, and Nutrition.\n \nFiber supplements. A health care provider may recommend taking a fiber product such as methylcellulose (Citrucel) or psyllium (Metamucil) one to three times a day. These products are available as powders, pills, or wafers and provide 0.5 to 3.5 grams of fiber per dose. Fiber products should be taken with at least 8 ounces of water.\n \nMedications. A number of studies suggest the medication mesalazine (Asacol), given either continuously or in cycles, may be effective at reducing abdominal pain and GI symptoms of diverticulosis. Research has also shown that combining mesalazine with the antibiotic rifaximin (Xifaxan) can be significantly more effective than using rifaximin alone to improve a persons symptoms and maintain periods of remission, which means being free of symptoms.4\n \nProbiotics. Although more research is needed, probiotics may help treat the symptoms of diverticulosis, prevent the onset of diverticulitis, and reduce the chance of recurrent symptoms. Probiotics are live bacteria, like those normally found in the GI tract. Probiotics can be found in dietary supplementsin capsules, tablets, and powdersand in some foods, such as yogurt.\n \nTo help ensure coordinated and safe care, people should discuss their use of complementary and alternative medical practices, including their use of dietary supplements and probiotics, with their health care provider. Read more at www.nccam.nih.gov/health/probiotics.\n \nTips for talking with health care providers are available at www.nccam.nih.gov/timetotalk.\n \nDiverticular Bleeding\n \nDiverticular bleeding is rare. Bleeding can be severe; however, it may stop by itself and not require treatment. A person who has bleeding from the rectumeven a small amountshould see a health care provider right away.\n \nTo treat the bleeding, a colonoscopy may be performed to identify the location of and stop the bleeding. A CT scan or angiogram also may be used to identify the site of the bleeding. A traditional angiogram is a special kind of x ray in which a thin, flexible tube called a catheter is threaded through a large artery, often from the groin, to the area of bleeding. Contrast medium is injected through the catheter so the artery shows up more clearly on the x ray. The procedure is performed in a hospital or an outpatient center by an x-ray technician, and the images are interpreted by a radiologist. Anesthesia is not needed, though a sedative may be given to lessen anxiety during the procedure.\n \nIf the bleeding does not stop, abdominal surgery with a colon resection may be necessary. In a colon resection, the surgeon removes the affected part of the colon and joins the remaining ends of the colon together; general anesthesia is used. A blood transfusion may be needed if the person has lost a significant amount of blood.\n \nDiverticulitis\n \nDiverticulitis with mild symptoms and no complications usually requires a person to rest, take oral antibiotics, and be on a liquid diet for a period of time. If symptoms ease after a few days, the health care provider will recommend gradually adding solid foods back into the diet.\n \nSevere cases of diverticulitis with acute pain and complications will likely require a hospital stay. Most cases of severe diverticulitis are treated with intravenous (IV) antibiotics and a few days without food or drink to help the colon rest. If the period without food or drink is longer, the person may be given parenteral nutritiona method of providing an IV liquid food mixture through a special tube in the chest. The mixture contains proteins, carbohydrates, fats, vitamins, and minerals.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Sarcoidosis ?"}, {"role": "assistant", "content": "Sarcoidosis is a disease that leads to inflammation, usually in your lungs, skin, or lymph nodes. It starts as tiny, grain-like lumps, called granulomas. Sarcoidosis can affect any organ in your body. No one is sure what causes sarcoidosis. It affects men and women of all ages and races. It occurs mostly in people ages 20 to 50, African Americans, especially women, and people of Northern European origin. Many people have no symptoms. If you have symptoms, they may include - Cough - Shortness of breath - Weight loss - Night sweats - Fatigue Tests to diagnose sarcoidosis include chest x-rays, lung function tests, and a biopsy. Not everyone who has the disease needs treatment. If you do, prednisone, a type of steroid, is the main treatment. NIH: National Heart, Lung, and Blood Institute", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by autosomal recessive axonal neuropathy with neuromyotonia ?"}, {"role": "assistant", "content": "Autosomal recessive axonal neuropathy with neuromyotonia is a rare form of inherited peripheral neuropathy. This group of conditions affects an estimated 1 in 2,500 people. The prevalence of autosomal recessive axonal neuropathy with neuromyotonia is unknown.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to prevent Sudden Cardiac Arrest ?"}, {"role": "assistant", "content": "Ways to prevent death due to sudden cardiac arrest (SCA) differ depending on whether:\n \nYou've already had SCA\n \nYou've never had SCA but are at high risk for the condition\n \nYou've never had SCA and have no known risk factors for the condition\n \nFor People Who Have Survived Sudden Cardiac Arrest\n \nIf you've already had SCA, you're at high risk of having it again. Research shows that an implantable cardioverter defibrillator (ICD) reduces the chances of dying from a second SCA.An ICD is surgically placed under the skin in your chest or abdomen. The device has wires with electrodes on the ends that connect to your heart's chambers. The ICD monitors your heartbeat.\n \nIf the ICD detects a dangerous heart rhythm, it gives an electric shock to restore the heart's normal rhythm. Your doctor may give you medicine to limit irregular heartbeats that can trigger the ICD.\n \nImplantable Cardioverter Defibrillator\n \n\n \nAn ICD isn't the same as a pacemaker. The devices are similar, but they have some differences. Pacemakers give off low-energy electrical pulses. They're often used to treat less dangerous heart rhythms, such as those that occur in the upper chambers of the heart. Most new ICDs work as both pacemakers and ICDs.\n \nFor People at High Risk for a First Sudden Cardiac Arrest\n \nIf you have severe coronary heart disease (CHD), you're at increased risk for SCA. This is especially true if you've recently had a heart attack.\n \nYour doctor may prescribe a type of medicine called a beta blocker to help lower your risk for SCA. Your doctor also may discuss beginning statin treatment if you have an elevated risk for developing heart disease or having a stroke. Doctors usually prescribe statins for people who have:\n \nDiabetes\n \nHeart disease or had a prior stroke\n \nHigh LDL cholesterol levels\n \nYour doctor also may prescribe other medications to:\n \nDecrease your chance of having a heart attack or dying suddenly.\n \nLower blood pressure.\n \nPrevent blood clots, which can lead to heart attack or stroke.\n \nPrevent or delay the need for a procedure or surgery, such as angioplasty or coronary artery bypass grafting.\n \nReduce your hearts workload and relieve coronary heart disease symptoms.\n \nTake all medicines regularly, as your doctor prescribes. Dont change the amount of your medicine or skip a dose unless your doctor tells you to. You should still follow a heart-healthy lifestyle, even if you take medicines to treat your coronary heart disease.\n \nOther treatments for coronary heart diseasesuch as percutaneous coronary intervention, also known as coronary angioplasty, or coronary artery bypass graftingalso may lower your risk for SCA. Your doctor also may recommend an ICD if youre at high risk for SCA.\n \nFor People Who Have No Known Risk Factors for Sudden Cardiac Arrest\n \nCHD seems to be the cause of most SCAs in adults. CHD also is a major risk factor for angina (chest pain or discomfort) and heart attack, and it contributes to other heart problems.\n \nFollowing a healthy lifestyle can help you lower your risk for CHD, SCA, and other heart problems. A heart-healthy lifestyle includes:\n \nHeart-healthy eating\n \nMaintaining a healthy weight\n \nManaging stress\n \nPhysical activity\n \nQuitting smoking\n \nHeart-Healthy Eating\n \nHeart-healthy eating is an important part of a heart-healthy lifestyle. Your doctor may recommend heart-healthy eating, which should include:\n \nFat-free or low-fat dairy products, such as skim milk\n \nFish high in omega-3 fatty acids, such as salmon, tuna, and trout, about twice a week\n \nFruits, such as apples, bananas, oranges, pears, and prunes\n \nLegumes, such as kidney beans, lentils, chickpeas, black-eyed peas, and lima beans\n \nVegetables, such as broccoli, cabbage, and carrots\n \nWhole grains, such as oatmeal, brown rice, and corn tortillas\n \nWhen following a heart-healthy diet, you should avoid eating:\n \nA lot of red meat\n \nPalm and coconut oils\n \nSugary foods and beverages\n \nTwo nutrients in your diet make blood cholesterol levels rise:\n \nSaturated fatfound mostly in foods that come from animals\n \nTrans fat (trans fatty acids)found in foods made with hydrogenated oils and fats, such as stick margarine; baked goods, such as cookies, cakes, and pies; crackers; frostings; and coffee creamers. Some trans fats also occur naturally in animal fats and meats.\n \nSaturated fat raises your blood cholesterol more than anything else in your diet. When you follow a heart-healthy eating plan, only 5percent to 6percent of your daily calories should come from saturated fat. Food labels list the amounts of saturated fat. To help you stay on track, here are some examples:\n \nIf you eat:\n \nTry to eat no more than:\n \n1,200 calories a day \n \n8 grams of saturated fat a day \n \n1,500 calories a day \n \n10 grams of saturated fat a day\n \n1,800 calories a day \n \n12 grams of saturated fat a day\n \n2,000 calories a day \n \n13 grams of saturated fat a day\n \n2,500 calories a day \n \n17 grams of saturated fat a day\n \nNot all fats are bad. Monounsaturated and polyunsaturated fats actually help lower blood cholesterol levels. Some sources of monounsaturated and polyunsaturated fats are:\n \nAvocados\n \nCorn, sunflower, and soybean oils\n \nNuts and seeds, such as walnuts\n \nOlive, canola, peanut, safflower, and sesame oils\n \nPeanut butter\n \nSalmon and trout\n \nTofu\n \nSodium\n \nYou should try to limit the amount of sodium that you eat. This means choosing and preparing foods that are lower in salt and sodium. Try to use low-sodium and no added salt foods and seasonings at the table or while cooking. Food labels tell you what you need to know about choosing foods that are lower in sodium. Try to eat no more than 2,300milligrams of sodium a day. If you have high blood pressure, you may need to restrict your sodium intake even more.\n \nDietary Approaches to Stop Hypertension\n \nYour doctor may recommend the Dietary Approaches to Stop Hypertension (DASH) eating plan if you have high blood pressure. The DASH eating plan focuses on fruits, vegetables, whole grains, and other foods that are heart healthy and low in fat, cholesterol, and sodium and salt.\n \nThe DASH eating plan is a good heart-healthy eating plan, even for those who dont have high blood pressure. Read more about DASH.\n \nLimiting Alcohol\n \nTry to limit alcohol intake. Too much alcohol can raise your blood pressure and triglyceride levels, a type of fat found in the blood. Alcohol also adds extra calories, which may cause weight gain.\n \nMen should have no more than two drinks containing alcohol a day. Women should have no more than one drink containing alcohol a day. One drink is:\n \n12 ounces of beer\n \n5 ounces of wine\n \n1 ounces of liquor\n \nMaintaining a Healthy Weight\n \nMaintaining a healthy weight is important for overall health and can lower your risk for sudden cardiac arrest. Aim for a Healthy Weight by following a heart-healthy eating plan and keeping physically active.\n \nKnowing your body mass index (BMI) helps you find out if youre a healthy weight in relation to your height and gives an estimate of your total body fat. To figure out your BMI, check out the National Heart, Lung, and Blood Institutes online BMI calculator or talk to your doctor. A BMI:\n \nBelow 18.5 is a sign that you are underweight.\n \nBetween 18.5 and 24.9 is in the normal range\n \nBetween 25.0 and 29.9 is considered overweight\n \nOf 30.0 or higher is considered obese\n \nA general goal to aim for is a BMI of less than 25. Your doctor or health care provider can help you set an appropriate BMI goal.\n \nMeasuring waist circumference helps screen for possible health risks. If most of your fat is around your waist rather than at your hips, youre at a higher risk for heart disease and type2 diabetes. This risk may be higher with a waist size that is greater than 35 inches for women or greater than 40 inches for men. To learn how to measure your waist, visit Assessing Your Weight and Health Risk.\n \nIf youre overweight or obese, try to lose weight. A loss of just 3percent to 5percent of your current weight can lower your triglycerides, blood glucose, and the risk of developing type2 diabetes. Greater amounts of weight loss can improve blood pressure readings, lower LDL cholesterol, and increase HDL cholesterol.\n \nManaging Stress\n \nManaging and coping with stress. Learning how to manage stress, relax, and cope with problems can improve your emotional and physical health. Consider healthy stress-reducing activities, such as:\n \nA stress management program\n \nMeditation\n \nPhysical activity\n \nRelaxation therapy\n \nTalking things out with friends or family\n \nPhysical Activity\n \nRegular physical activity can lower your risk for coronary heart disease, sudden cardiac arrest, and other health problems. Everyone should try to participate in moderate-intensity aerobic exercise at least 2hours and 30minutes per week or vigorous aerobic exercise for 1hour and 15minutes per week. Aerobic exercise, such as brisk walking, is any exercise in which your heart beats faster and you use more oxygen than usual. The more active you are, the more you will benefit. Participate in aerobic exercise for at least 10minutes at a time spread throughout the week.\n \nTalk with your doctor before you start a new exercise plan. Ask your doctor how much and what kinds of physical activity are safe for you.\n \nRead more about physical activity at:\n \nPhysical Activity and Your Heart\n \nU.S. Department of Health and Human Services, 2008 Physical Activity Guidelines for Americans\n \nQuitting Smoking\n \nPeople who smoke are more likely to have a heart attack than are people who dont smoke. The risk of having a heart attack increases with the number of cigarettes smoked each day. Smoking also raises your risk for stroke and lung diseases, such as chronic obstructive pulmonary disease (COPD) and lung cancer.\n \nQuitting smoking can greatly reduce your risk for heart and lung diseases. Ask your doctor about programs and products that can help you quit. Also, try to avoid secondhand smoke. If you have trouble quitting smoking on your own, consider joining a support group. Many hospitals, workplaces, and community groups offer classes to help people quit smoking. Read more about how to quit smoking.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for adermatoglyphia ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of adermatoglyphia: - Genetic Testing Registry: Adermatoglyphia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for adenine phosphoribosyltransferase deficiency ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of adenine phosphoribosyltransferase deficiency: - Boston Children's Hospital: Pediatric Kidney Stones in Children - Gene Review: Gene Review: Adenine Phosphoribosyltransferase Deficiency - Genetic Testing Registry: Adenine phosphoribosyltransferase deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Langerhans Cell Histiocytosis ?"}, {"role": "assistant", "content": "The following tests and procedures may be used to detect (find) and diagnose LCH or conditions caused by LCH: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patient's health habits and past illnesses and treatments will also be taken. - Neurological exam : A series of questions and tests to check the brain, spinal cord, and nerve function. The exam checks a person's mental status, coordination, and ability to walk normally, and how well the muscles, senses, and reflexes work. This may also be called a neuro exam or a neurologic exam. - Complete blood count (CBC) with differential : A procedure in which a sample of blood is drawn and checked for the following: - The amount of hemoglobin (the protein that carries oxygen) in the red blood cells. - The portion of the blood sample made up of red blood cells. - The number and type of white blood cells. - The number of red blood cells and platelets. - Blood chemistry studies : A procedure in which a blood sample is checked to measure the amounts of certain substances released into the body by organs and tissues in the body. An unusual (higher or lower than normal) amount of a substance can be a sign of disease. - Liver function test : A blood test to measure the blood levels of certain substances released by the liver. A high or low level of these substances can be a sign of disease in the liver. - BRAF gene testing : A laboratory test in which a sample of blood or tissue is tested for mutations of the BRAF gene. - Urinalysis : A test to check the color of urine and its contents, such as sugar, protein, red blood cells, and white blood cells. - Water deprivation test : A test to check how much urine is made and whether it becomes concentrated when little or no water is given. This test is used to diagnose diabetes insipidus, which may be caused by LCH. - Bone marrow aspiration and biopsy : The removal of bone marrow and a small piece of bone by inserting a hollow needle into the hipbone. A pathologist views the bone marrow and bone under a microscope to look for signs of LCH. The following tests may be done on the tissue that was removed: - Immunohistochemistry : A test that uses antibodies to check for certain antigens in a sample of tissue. The antibody is usually linked to a radioactive substance or a dye that causes the tissue to light up under a microscope. This type of test may be used to tell the difference between different types of cancer. - Flow cytometry : A laboratory test that measures the number of cells in a sample, how many cells are live, and the size of the cells. It also shows the shapes of the cells and whether there are tumor markers on the surface of the cells. The cells are stained with a light-sensitive dye, placed in a fluid, and passed in a stream before a laser or other type of light. The measurements are based on how the light-sensitive dye reacts to the light. - Bone scan : A procedure to check if there are rapidly dividing cells in the bone. A very small amount of radioactive material is injected into a vein and travels through the bloodstream. The radioactive material collects in the bones with cancer and is detected by a scanner. - X-ray : An x-ray of the organs and bones inside the body. An x-ray is a type of energy beam that can go through the body and onto film, making a picture of areas inside the body. Sometimes a skeletal survey is done. This is a procedure to x-ray all of the bones in the body. - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body. A substance called gadolinium may be injected into a vein. The gadolinium collects around the LCH cells so that they show up brighter in the picture. This procedure is also called nuclear magnetic resonance imaging (NMRI). - PET scan (positron emission tomography scan): A procedure to find tumor cells in the body. A small amount of radioactive glucose (sugar) is injected into a vein. The PET scanner rotates around the body and makes a picture of where glucose is being used in the body. Tumor cells show up brighter in the picture because they are more active and take up more glucose than normal cells do. - Ultrasound exam: A procedure in which high-energy sound waves (ultrasound) are bounced off internal tissues or organs and make echoes. The echoes form a picture of body tissues called a sonogram. The picture can be printed to be looked at later. - Bronchoscopy : A procedure to look inside the trachea and large airways in the lung for abnormal areas. A bronchoscope is inserted through the nose or mouth into the trachea and lungs. A bronchoscope is a thin, tube-like instrument with a light and a lens for viewing. It may also have a tool to remove tissue samples, which are checked under a microscope for signs of cancer. - Endoscopy : A procedure to look at organs and tissues inside the body to check for abnormal areas in the gastrointestinal tract or lungs. An endoscope is inserted through an incision (cut) in the skin or opening in the body, such as the mouth. An endoscope is a thin, tube-like instrument with a light and a lens for viewing. It may also have a tool to remove tissue or lymph node samples, which are checked under a microscope for signs of disease. - Biopsy : The removal of cells or tissues so they can be viewed under a microscope by a pathologist to check for LCH cells. To diagnose LCH, a biopsy of bone lesions, skin, lymph nodes, or the liver may be done.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is McCune-Albright syndrome inherited ?"}, {"role": "assistant", "content": "McCune-Albright syndrome is not inherited. Instead, it is caused by a random mutation in the GNAS gene that occurs very early in development. As a result, some of the body's cells have a normal version of the GNAS gene, while other cells have the mutated version. This phenomenon is called mosaicism. The severity of this disorder and its specific features depend on the number and location of cells that have the mutated GNAS gene.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) primary carnitine deficiency ?"}, {"role": "assistant", "content": "Primary carnitine deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). Carnitine, a natural substance acquired mostly through the diet, is used by cells to process fats and produce energy. Signs and symptoms of primary carnitine deficiency typically appear during infancy or early childhood and can include severe brain dysfunction (encephalopathy), a weakened and enlarged heart (cardiomyopathy), confusion, vomiting, muscle weakness, and low blood sugar (hypoglycemia). The severity of this condition varies among affected individuals. Some people with primary carnitine deficiency are asymptomatic, which means they do not have any signs or symptoms of the condition. All individuals with this disorder are at risk for heart failure, liver problems, coma, and sudden death. Problems related to primary carnitine deficiency can be triggered by periods of fasting or by illnesses such as viral infections. This disorder is sometimes mistaken for Reye syndrome, a severe disorder that may develop in children while they appear to be recovering from viral infections such as chicken pox or flu. Most cases of Reye syndrome are associated with the use of aspirin during these viral infections.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by Liddle syndrome ?"}, {"role": "assistant", "content": "Liddle syndrome is a rare condition, although its prevalence is unknown. The condition has been found in populations worldwide.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by alkaptonuria ?"}, {"role": "assistant", "content": "This condition is rare, affecting 1 in 250,000 to 1 million people worldwide. Alkaptonuria is more common in certain areas of Slovakia (where it has an incidence of about 1 in 19,000 people) and in the Dominican Republic.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) congenital fiber-type disproportion ?"}, {"role": "assistant", "content": "Congenital fiber-type disproportion is a condition that primarily affects skeletal muscles, which are muscles used for movement. People with this condition typically experience muscle weakness (myopathy), particularly in the muscles of the shoulders, upper arms, hips, and thighs. Weakness can also affect the muscles of the face and muscles that control eye movement (ophthalmoplegia), sometimes causing droopy eyelids (ptosis). Individuals with congenital fiber-type disproportion generally have a long face, a high arch in the roof of the mouth (high-arched palate), and crowded teeth. Affected individuals may have joint deformities (contractures) and an abnormally curved lower back (lordosis) or a spine that curves to the side (scoliosis). Approximately 30 percent of people with this disorder experience mild to severe breathing problems related to weakness of muscles needed for breathing. Some people who experience these breathing problems require use of a machine to help regulate their breathing at night (noninvasive mechanical ventilation), and occasionally during the day as well. About 30 percent of affected individuals have difficulty swallowing due to muscle weakness in the throat. Rarely, people with this condition have a weakened and enlarged heart muscle (dilated cardiomyopathy). The severity of congenital fiber-type disproportion varies widely. It is estimated that up to 25 percent of affected individuals experience severe muscle weakness at birth and die in infancy or childhood. Others have only mild muscle weakness that becomes apparent in adulthood. Most often, the signs and symptoms of this condition appear by age 1. The first signs of this condition are usually decreased muscle tone (hypotonia) and muscle weakness. In most cases, muscle weakness does not worsen over time, and in some instances it may improve. Although motor skills such as standing and walking may be delayed, many affected children eventually learn to walk. These individuals often have less stamina than their peers, but they remain active. Rarely, people with this condition have a progressive decline in muscle strength over time. These individuals may lose the ability to walk and require wheelchair assistance.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Heart Block ?"}, {"role": "assistant", "content": "Heart block is a problem that occurs with the heart's electrical system. This system controls the rate and rhythm of heartbeats. (\"Rate\" refers to the number of times your heart beats per minute. \"Rhythm\" refers to the pattern of regular or irregular pulses produced as the heart beats.)\n \nWith each heartbeat, an electrical signal spreads across the heart from the upper to the lower chambers. As it travels, the signal causes the heart to contract and pump blood.\n \nHeart block occurs if the electrical signal is slowed or disrupted as it moves through the heart.\n \nOverview\n \nHeart block is a type of arrhythmia (ah-RITH-me-ah). An arrhythmia is any problem with the rate or rhythm of the heartbeat.\n \nSome people are born with heart block, while others develop it during their lifetimes. If you're born with the condition, it's called congenital (kon-JEN-ih-tal) heart block. If the condition develops after birth, it's called acquired heart block.\n \nDoctors might detect congenital heart block before or after a baby is born. Certain diseases that may occur during pregnancy can cause heart block in a baby. Some congenital heart defects also can cause heart block. Congenital heart defects are problems with the heart's structure that are present at birth. Often, doctors don't know what causes these defects.\n \nAcquired heart block is more common than congenital heart block. Damage to the heart muscle or its electrical system causes acquired heart block. Diseases, surgery, or medicines can cause this damage.\n \nThe three types of heart block are first degree, second degree, and third degree. First degree is the least severe, and third degree is the most severe. This is true for both congenital and acquired heart block.\n \nDoctors use a test called an EKG (electrocardiogram) to help diagnose heart block. This test detects and records the heart's electrical activity. It maps the data on a graph for the doctor to review.\n \nOutlook\n \nThe symptoms and severity of heart block depend on which type you have. First-degree heart block may not cause any severe symptoms.\n \nSecond-degree heart block may result in the heart skipping a beat or beats. This type of heart block also can make you feel dizzy or faint.\n \nThird-degree heart block limits the heart's ability to pump blood to the rest of the body. This type of heart block may cause fatigue (tiredness), dizziness, and fainting. Third-degree heart block requires prompt treatment because it can be fatal.\n \nA medical device called a pacemaker is used to treat third-degree heart block and some cases of second-degree heart block. This device uses electrical pulses to prompt the heart to beat at a normal rate. Pacemakers typically are not used to treat first-degree heart block.\n \nAll types of heart block may increase your risk for other arrhythmias, such as atrial fibrillation (A-tre-al fih-brih-LA-shun). Talk with your doctor to learn more about the signs and symptoms of arrhythmias.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Toxocariasis ?"}, {"role": "assistant", "content": "Toxocariasis is a parasitic condition caused by the larvae of two species of Toxocara roundworms: Toxocara canis (from dogs) and Toxocara cati (from cats). Many people who are infected with Toxocara never develop any signs or symptoms of the condition. In those who do become sick, symptoms may present as: Ocular Toxocariasis - when the larvae infect the eye and cause vision loss, eye inflammation, and/or damage to the retina. Visceral Toxocariasis - when the larvae infect various organs of the body (i.e. the liver or the central nervous system) and cause fever, fatigue, coughing, wheezing, and/or abdominal pain. Toxocariasis is generally spread through dirt that has been contaminated with animal feces that contain infectious Toxocara eggs. Young children and owners of dogs and cats have a higher chance of becoming infected. Visceral toxocariasis is treated with antiparasitic medications. Treatment of ocular toxocariasis is more difficult and usually consists of measures to prevent progressive damage to the eye.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "what research (or clinical trials) is being done for Merkel Cell Carcinoma ?"}, {"role": "assistant", "content": "New types of treatment are being tested in clinical trials.\n \n \n \n Patients may want to think about taking part in a clinical trial.\n For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward.\n \n \n Patients can enter clinical trials before, during, or after starting their cancer treatment.\n Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Baylisascaris infection ?"}, {"role": "assistant", "content": "How might Baylisascaris infection be treated? No drug has been found to be completely effective in treating Baylisascaris infections in humans. Albendazole is currently considered to be the drug of choice. Corticosteroids may also be given to reduce inflammation. In many cases, significant damage has already occurred by the time treatment has started. Early diagnosis and treatment provide the best chance of recovery.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) beta-mannosidosis ?"}, {"role": "assistant", "content": "Beta-mannosidosis is a rare inherited disorder affecting the way certain sugar molecules are processed in the body. Signs and symptoms of beta-mannosidosis vary widely in severity, and the age of onset ranges between infancy and adolescence. Almost all individuals with beta-mannosidosis experience intellectual disability, and some have delayed motor development and seizures. Affected individuals may be extremely introverted, prone to depression, or have behavioral problems such as hyperactivity, impulsivity or aggression. People with beta-mannosidosis may experience an increased risk of respiratory and ear infections, hearing loss, speech impairment, swallowing difficulties, poor muscle tone (hypotonia), and reduced sensation or other nervous system abnormalities in the extremities (peripheral neuropathy). They may also exhibit distinctive facial features and clusters of enlarged blood vessels forming small, dark red spots on the skin (angiokeratomas).", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Alzheimer's Disease ?"}, {"role": "assistant", "content": "Alzheimer's disease (AD) is an age-related, non-reversible brain disorder that develops over a period of years. Initially, people experience memory loss and confusion, which may be mistaken for the kinds of memory changes that are sometimes associated with normal aging. However, the symptoms of AD gradually lead to behavior and personality changes, a decline in cognitive abilities such as decision-making and language skills, and problems recognizing family and friends. AD ultimately leads to a severe loss of mental function. These losses are related to the worsening breakdown of the connections between certain neurons in the brain and their eventual death. AD is one of a group of disorders called dementias that are characterized by cognitive and behavioral problems. It is the most common cause of dementia among people age 65 and older.\n \nThere are three major hallmarks in the brain that are associated with the disease processes of AD.\n \n- Amyloid plaques, which are made up of fragments of a protein called beta-amyloid peptide mixed with a collection of additional proteins, remnants of neurons, and bits and pieces of other nerve cells. - Neurofibrillary tangles (NFTs), found inside neurons, are abnormal collections of a protein called tau. Normal tau is required for healthy neurons. However, in AD, tau clumps together. As a result, neurons fail to function normally and eventually die. - Loss of connections between neurons responsible for memory and learning. Neurons can't survive when they lose their connections to other neurons. As neurons die throughout the brain, the affected regions begin to atrophy, or shrink. By the final stage of AD, damage is widespread and brain tissue has shrunk significantly.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Hermansky-Pudlak syndrome ?"}, {"role": "assistant", "content": "Hermansky-Pudlak syndrome is a disorder characterized by a condition called oculocutaneous albinism, which causes abnormally light coloring (pigmentation) of the skin, hair, and eyes. Affected individuals typically have fair skin and white or light-colored hair. People with this disorder have a higher than average risk of skin damage and skin cancers caused by long-term sun exposure. Oculocutaneous albinism reduces pigmentation of the colored part of the eye (iris) and the light-sensitive tissue at the back of the eye (retina). Reduced vision, rapid and involuntary eye movements (nystagmus), and increased sensitivity to light (photophobia) are also common in oculocutaneous albinism. In Hermansky-Pudlak syndrome, these vision problems usually remain stable after early childhood. People with Hermansky-Pudlak syndrome also have problems with blood clotting (coagulation) that lead to easy bruising and prolonged bleeding. Some individuals with Hermansky-Pudlak syndrome develop breathing problems due to a lung disease called pulmonary fibrosis, which causes scar tissue to form in the lungs. The symptoms of pulmonary fibrosis usually appear during an individual's early thirties and rapidly worsen. Individuals with Hermansky-Pudlak syndrome who develop pulmonary fibrosis often do not live for more than a decade after they begin to experience breathing problems. Other, less common features of Hermansky-Pudlak syndrome include inflammation of the large intestine (granulomatous colitis) and kidney failure. There are nine different types of Hermansky-Pudlak syndrome, which can be distinguished by their signs and symptoms and underlying genetic cause. Types 1 and 4 are the most severe forms of the disorder. Types 1, 2, and 4 are the only types associated with pulmonary fibrosis. Individuals with type 3, 5, or 6 have the mildest symptoms. Little is known about the signs, symptoms, and severity of types 7, 8, and 9.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is the outlook for Acid Lipase Disease ?"}, {"role": "assistant", "content": "Wolmans disease is usually fatal by age 1. The onset and course of cholesteryl ester storage disease varies, and individuals may live into adulthood.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose National Hormone and Pituitary Program (NHPP): Information for People Treated with Pituitary Human Growth Hormone (Comprehensive Report) ?"}, {"role": "assistant", "content": "CJD is usually diagnosed based on signs and symptoms of the illness, how severe they are, and how quickly they become worse. However, doctors must study brain tissue from a biopsy or autopsy in order to make a definite diagnosis of CJD.\n \nOther tests can suggest CJD. In 1996, researchers developed a test that helps doctors diagnose CJD in patients with symptoms. This test detects an abnormal protein in a sample of spinal fluid. When this protein is found, it helps make a diagnosis of CJD. It is much easier and safer to take a sample of spinal fluid than to do a brain biopsy. Unfortunately, this test cannot identify CJD in patients who do not have symptoms. The test cannot predict who may develop CJD in the future.\n \nResearchers from many countries, including the United States, have reported success using MRI to diagnose CJD and vCJD in people with symptoms of the disease. MRI is a safe and painless tool that allows doctors to look at images of the brain and does not involve the collection of brain or spinal fluid samples.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is hereditary multiple osteochondromas inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome ?"}, {"role": "assistant", "content": "IPEX syndrome is a rare disorder; its prevalence is unknown.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) cri-du-chat syndrome ?"}, {"role": "assistant", "content": "Cri-du-chat (cat's cry) syndrome, also known as 5p- (5p minus) syndrome, is a chromosomal condition that results when a piece of chromosome 5 is missing. Infants with this condition often have a high-pitched cry that sounds like that of a cat. The disorder is characterized by intellectual disability and delayed development, small head size (microcephaly), low birth weight, and weak muscle tone (hypotonia) in infancy. Affected individuals also have distinctive facial features, including widely set eyes (hypertelorism), low-set ears, a small jaw, and a rounded face. Some children with cri-du-chat syndrome are born with a heart defect.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Passos-Bueno syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Passos-Bueno syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Passos-Bueno syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the macula 90% Encephalocele 90% Myopia 90% Retinal detachment 90% Skull defect 90% Abnormality of the vitreous humor 50% Hydrocephalus 50% Nystagmus 50% Visual impairment 50% Cataract 7.5% Depressed nasal bridge 7.5% Ectopia lentis 7.5% Epicanthus 7.5% Joint hypermobility 7.5% Lymphangioma 7.5% Malar flattening 7.5% Patent ductus arteriosus 7.5% Pyloric stenosis 7.5% Seizures 7.5% Situs inversus totalis 7.5% Strabismus 7.5% Vesicoureteral reflux 7.5% Mental deterioration 5% Ataxia - Autosomal recessive inheritance - Band keratopathy - Cerebellar atrophy - Cerebral atrophy - Congenital cataract - Macular hypoplasia - Occipital encephalocele - Phenotypic variability - Phthisis bulbi - Polymicrogyria - Severe Myopia - Ventriculomegaly - Visual loss - Vitreoretinal degeneration - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Batten Disease ?"}, {"role": "assistant", "content": "As yet, no specific treatment is known that can halt or reverse the symptoms of Batten disease. However, seizures can sometimes be reduced or controlled with anticonvulsant drugs, and other medical problems can be treated appropriately as they arise. Physical therapy and occupational therapy may help patients retain functioning as long as possible.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by 1q21.1 microdeletion ?"}, {"role": "assistant", "content": "1q21.1 microdeletion is a rare chromosomal change; only a few dozen individuals with this deletion have been reported in the medical literature.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for nonsyndromic aplasia cutis congenita ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of nonsyndromic aplasia cutis congenita: - Genetic Testing Registry: Aplasia cutis congenita These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "what research (or clinical trials) is being done for SUNCT Headache ?"}, {"role": "assistant", "content": "The NINDS conducts a wide range of research on headache disorders. This research aims to discover ways to better diagnose, treat, and ultimately, prevent these disorders.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to prevent Gum (Periodontal) Disease ?"}, {"role": "assistant", "content": "Yes, you can prevent gum disease with proper dental hygiene and regular cleanings by your dentist or dental hygienist. Specifically, you should - brush your teeth twice a day (with a fluoride toothpaste). - floss regularly to remove plaque from between teeth. Or use a device such as a special pick recommended by a dental professional. - visit the dentist routinely for a check-up and professional cleaning. - not smoke. - eat a well-balanced diet. (For more information, see \"Eating Well As You Get Older\" at http://nihseniorhealth.gov/eatingwellasyougetolder/toc.html) brush your teeth twice a day (with a fluoride toothpaste). floss regularly to remove plaque from between teeth. Or use a device such as a special pick recommended by a dental professional. visit the dentist routinely for a check-up and professional cleaning. not smoke. eat a well-balanced diet. (For more information, see \"Eating Well As You Get Older\" at http://nihseniorhealth.gov/eatingwellasyougetolder/toc.html)", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Klippel-Feil syndrome ?"}, {"role": "assistant", "content": "Klippel-Feil syndrome is a bone disorder characterized by the abnormal joining (fusion) of two or more spinal bones in the neck (cervical vertebrae). The vertebral fusion is present from birth. Three major features result from this vertebral fusion: a short neck, the resulting appearance of a low hairline at the back of the head, and a limited range of motion in the neck. Most affected people have one or two of these characteristic features. Less than half of all individuals with Klippel-Feil syndrome have all three classic features of this condition. In people with Klippel-Feil syndrome, the fused vertebrae can limit the range of movement of the neck and back as well as lead to chronic headaches and muscle pain in the neck and back that range in severity. People with minimal bone involvement often have fewer problems compared to individuals with several vertebrae affected. The shortened neck can cause a slight difference in the size and shape of the right and left sides of the face (facial asymmetry). Trauma to the spine, such as a fall or car accident, can aggravate problems in the fused area. Fusion of the vertebrae can lead to nerve damage in the head, neck, or back. Over time, individuals with Klippel-Feil syndrome can develop a narrowing of the spinal canal (spinal stenosis) in the neck, which can compress and damage the spinal cord. Rarely, spinal nerve abnormalities may cause abnormal sensations or involuntary movements in people with Klippel-Feil syndrome. Affected individuals may develop a painful joint disorder called osteoarthritis around the areas of fused bone or experience painful involuntary tensing of the neck muscles (cervical dystonia). In addition to the fused cervical bones, people with this condition may have abnormalities in other vertebrae. Many people with Klippel-Feil syndrome have abnormal side-to-side curvature of the spine (scoliosis) due to malformation of the vertebrae; fusion of additional vertebrae below the neck may also occur. People with Klippel-Feil syndrome may have a wide variety of other features in addition to their spine abnormalities. Some people with this condition have hearing difficulties, eye abnormalities, an opening in the roof of the mouth (cleft palate), genitourinary problems such as abnormal kidneys or reproductive organs, heart abnormalities, or lung defects that can cause breathing problems. Affected individuals may have other skeletal defects including arms or legs of unequal length (limb length discrepancy), which can result in misalignment of the hips or knees. Additionally, the shoulder blades may be underdeveloped so that they sit abnormally high on the back, a condition called Sprengel deformity. Rarely, structural brain abnormalities or a type of birth defect that occurs during the development of the brain and spinal cord (neural tube defect) can occur in people with Klippel-Feil syndrome. In some cases, Klippel-Feil syndrome occurs as a feature of another disorder or syndrome, such as Wildervanck syndrome or hemifacial microsomia. In these instances, affected individuals have the signs and symptoms of both Klippel-Feil syndrome and the additional disorder.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Adolescent idiopathic scoliosis inherited ?"}, {"role": "assistant", "content": "Is adolescent idiopathic scoliosis inherited? Adolescent idiopathic scoliosis can be sporadic, which means it occurs in people without a family history of the condition, or it can cluster in families. The inheritance pattern of adolescent idiopathic scoliosis is unclear because many genetic and environmental factors appear to be involved. We do know, however, that having a close relative (such as a parent or sibling) with the condition increases a child's risk of developing it.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to 3-hydroxyacyl-CoA dehydrogenase deficiency ?"}, {"role": "assistant", "content": "Mutations in the HADH gene cause 3-hydroxyacyl-CoA dehydrogenase deficiency. The HADH gene provides instructions for making an enzyme called 3-hydroxyacyl-CoA dehydrogenase. Normally, through a process called fatty acid oxidation, several enzymes work in a step-wise fashion to break down (metabolize) fats and convert them to energy. The 3-hydroxyacyl-CoA dehydrogenase enzyme is required for a step that metabolizes groups of fats called medium-chain fatty acids and short-chain fatty acids. Mutations in the HADH gene lead to a shortage of 3-hydroxyacyl-CoA dehydrogenase. Medium-chain and short-chain fatty acids cannot be metabolized properly without sufficient levels of this enzyme. As a result, these fatty acids are not converted to energy, which can lead to characteristic features of 3-hydroxyacyl-CoA dehydrogenase deficiency, such as lethargy and hypoglycemia. Medium-chain and short-chain fatty acids that are not broken down can build up in tissues and damage the liver, heart, and muscles, causing serious complications. Conditions that disrupt the metabolism of fatty acids, including 3-hydroxyacyl-CoA dehydrogenase deficiency, are known as fatty acid oxidation disorders.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Multiple familial trichoepithelioma ?"}, {"role": "assistant", "content": "How might multiple familial trichoepithelioma be treated? Several therapies have been used to treat multiple trichoepitheliomas, with variable results. A single trichoepithelioma may be treated with surgery. Cryosurgery or laser surgery may be used to remove multiple trichoepitheliomas. Imiquimod cream has also been used as a treatment for trichoepitheliomas, with some improvement in symptoms. Other treatments have included dermabrasion, photodynamic therapy, and other medications. However, in most cases, multiple trichoepitheliomas eventually regrow following treatment.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Phenylketonuria ?"}, {"role": "assistant", "content": "Phenylketonuria (PKU) is a genetic disorder in which the body can't process part of a protein called phenylalanine (Phe). Phe is in almost all foods. If the Phe level gets too high, it can damage the brain and cause severe intellectual disability. All babies born in U.S. hospitals must now have a screening test for PKU. This makes it easier to diagnose and treat the problem early. The best treatment for PKU is a diet of low-protein foods. There are special formulas for newborns. For older children and adults, the diet includes many fruits and vegetables. It also includes some low-protein breads, pastas and cereals. Nutritional formulas provide the vitamins and minerals they can't get from their food. Babies who get on this special diet soon after they are born develop normally. Many have no symptoms of PKU. It is important that they stay on the diet for the rest of their lives. NIH: National Institute of Child Health and Human Development", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes COPD ?"}, {"role": "assistant", "content": "COPD is a disease that slowly worsens over time, especially if you continue to smoke. If you have COPD, you are more likely to have lung infections, which can be fatal. If the lungs are severely damaged, the heart may be affected. A person with COPD dies when the lungs and heart are unable to function and get oxygen to the body's organs and tissues, or when a complication, such as a severe infection, occurs. Treatment for COPD may help prevent complications, prolong life, and improve a person's quality of life.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "what research (or clinical trials) is being done for Periventricular Leukomalacia ?"}, {"role": "assistant", "content": "The NINDS supports and conducts research on brain injuries such as PVL. Much of this research is aimed at finding ways to prevent and treat these disorders.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by spastic paraplegia type 3A ?"}, {"role": "assistant", "content": "Spastic paraplegia type 3A belongs to a subgroup of hereditary spastic paraplegias known as autosomal dominant hereditary spastic paraplegia, which has an estimated prevalence of 2 to 9 per 100,000 individuals. Spastic paraplegia type 3A accounts for 10 to 15 percent of all autosomal dominant hereditary spastic paraplegia cases.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of CARASIL: - Gene Review: Gene Review: CARASIL - Genetic Testing Registry: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Tinea Infections ?"}, {"role": "assistant", "content": "Tinea is the name of a group of diseases caused by a fungus. Types of tinea include ringworm, athlete's foot and jock itch. These infections are usually not serious, but they can be uncomfortable. You can get them by touching an infected person, from damp surfaces such as shower floors, or even from a pet. Symptoms depend on the affected area of the body: - Ringworm is a red skin rash that forms a ring around normal-looking skin. A worm doesn't cause it. - Scalp ringworm causes itchy, red patches on your head. It can leave bald spots. It usually affects children. - Athlete's foot causes itching, burning and cracked skin between your toes. - Jock itch causes an itchy, burning rash in your groin area. Over-the-counter creams and powders will get rid of many tinea infections, particularly athlete's foot and jock itch. Other cases require prescription medicine.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Johnston Aarons Schelley syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Johnston Aarons Schelley syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Johnston Aarons Schelley syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Dry skin 90% Hyperkeratosis 90% Hypertonia 90% Limitation of joint mobility 90% Morphological abnormality of the central nervous system 90% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is leukocyte adhesion deficiency type 1 inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Fukuyama type muscular dystrophy ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Fukuyama type muscular dystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Fukuyama type muscular dystrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Exaggerated startle response 5% Holoprosencephaly 5% Retinal dysplasia 5% Agenesis of corpus callosum - Areflexia - Atria septal defect - Autosomal recessive inheritance - Calf muscle hypertrophy - Cataract - Cerebellar cyst - Cerebellar hypoplasia - Congenital muscular dystrophy - Elevated serum creatine phosphokinase - Encephalocele - Flexion contracture - Hydrocephalus - Hypermetropia - Hypoplasia of the brainstem - Hypoplasia of the pyramidal tract - Infantile onset - Intellectual disability - Microphthalmia - Muscle weakness - Muscular hypotonia - Myocardial fibrosis - Myopia - Optic atrophy - Pachygyria - Polymicrogyria - Pulmonic stenosis - Respiratory insufficiency - Retinal detachment - Scoliosis - Seizures - Skeletal muscle atrophy - Spinal rigidity - Strabismus - Transposition of the great arteries - Type II lissencephaly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Hypoglycemia ?"}, {"role": "assistant", "content": "Hypoglycemia means low blood glucose, or blood sugar. Your body needs glucose to have enough energy. After you eat, your blood absorbs glucose. If you eat more sugar than your body needs, your muscles, and liver store the extra. When your blood sugar begins to fall, a hormone tells your liver to release glucose. In most people, this raises blood sugar. If it doesn't, you have hypoglycemia, and your blood sugar can be dangerously low. Signs include - Hunger - Shakiness - Dizziness - Confusion - Difficulty speaking - Feeling anxious or weak In people with diabetes, hypoglycemia is often a side effect of diabetes medicines. Eating or drinking something with carbohydrates can help. If it happens often, your health care provider may need to change your treatment plan. You can also have low blood sugar without having diabetes. Causes include certain medicines or diseases, hormone or enzyme deficiencies, and tumors. Laboratory tests can help find the cause. The kind of treatment depends on why you have low blood sugar. NIH: National Institute of Diabetes and Digestive and Kidney Diseases", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Lung Cancer ?"}, {"role": "assistant", "content": "Key Points\n - Lung cancer is a disease in which malignant (cancer) cells form in the tissues of the lung. - Lung cancer is the leading cause of cancer death in the United States. - Different factors increase or decrease the risk of lung cancer.\n \n \n Lung cancer is a disease in which malignant (cancer) cells form in the tissues of the lung.\n The lungs are a pair of cone-shaped breathing organs inside the chest. The lungs bring oxygen into the body when breathing in and send carbon dioxide out of the body when breathing out. Each lung has sections called lobes. The left lung has two lobes. The right lung, which is slightly larger, has three. A thin membrane called the pleura surrounds the lungs. Two tubes called bronchi lead from the trachea (windpipe) to the right and left lungs. The bronchi are sometimes involved in lung cancer. Small tubes called bronchioles and tiny air sacs called alveoli make up the inside of the lungs. There are two types of lung cancer: small cell lung cancer and non-small cell lung cancer. See the following PDQ summaries for more information about lung cancer: - Lung Cancer Prevention - Non-Small Cell Lung Cancer Treatment - Small Cell Lung Cancer Treatment\n \n \n Lung cancer is the leading cause of cancer death in the United States.\n Lung cancer is the third most common type of non-skin cancer in the United States. Lung cancer is the leading cause of cancer death in men and in women.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "what research (or clinical trials) is being done for Cerebral Palsy ?"}, {"role": "assistant", "content": "The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge of the brain and nervous system and to use that knowledge to reduce the burden of neurological disease.The NINDS is a component of the National Institutes of Health, the leading supporter of biomedical research in the world. Researchers supported by the NINDS are investigating the roles of mishaps early in brain development, including genetic defects, which are sometimes responsible for the brain malformations and abnormalities that result in cerebral palsy.Scientists are also looking at traumatic events in newborn babies brains, such as bleeding, epileptic seizures, and breathing and circulation problems, which can cause the abnormal release of chemicals that trigger the kind of damage that causes cerebral palsy. NINDS-supported researchers also hope to find ways to prevent white matter disease, the most common cause of cerebral palsy. To make sure children are getting the right kinds of therapies, studies are also being done that evaluate both experimental treatments and treatments already in use so that physicians and parents have valid information to help them choose the best therapy.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes What I need to know about Crohn's Disease ?"}, {"role": "assistant", "content": "Researchers are studying the possible causes of Crohns disease. Your bodys natural defense system, called the immune system, protects you from infection by fighting against bacteria, viruses, and other things that can make you sick. Researchers believe that with Crohns disease, the immune system attacks harmless bacteria and viruses. During the attack, white blood cells gather in the intestinal lining. The white blood cells cause chronic inflammation, which leads to ulcers, or sores, and damage to the intestines.\n \nOther factors associated with Crohns disease are\n \n- genesthe traits passed down from your parents - unknown triggers caused by the environment", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Breast Cancer ?"}, {"role": "assistant", "content": "Breast cancer occurs when a malignant tumor forms in the breast tissue. The cancer can be found in the breast itself or in the ducts and lymph nodes that surround the breast.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "what research (or clinical trials) is being done for Mitochondrial Myopathy ?"}, {"role": "assistant", "content": "The NINDS conducts and supports research on mitochondrial myopathies. The goals of this research are to increase scientific understanding of these disorders and to find ways to effectively treat, prevent, or potentially cure them.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for familial pityriasis rubra pilaris ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of familial pityriasis rubra pilaris: - Genetic Testing Registry: Pityriasis rubra pilaris These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Brody myopathy ?"}, {"role": "assistant", "content": "Brody disease is a type of myopahty or \"disease of muscle.\" Signs and symptoms include difficulty relaxing muscles and muscle stiffness following exercise. The condition tends to be inherited in an autosomal recessive fashion. Some cases of Brody disease are caused by mutations in a gene called ATP2A1, for other cases the underlying genetic defect has not been identified.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Alopecia universalis ?"}, {"role": "assistant", "content": "Alopecia universalis (AU) is a condition characterized by the complete loss of hair on the scalp and body. It is an advanced form of alopecia areata, a condition that causes round patches of hair loss. Although the exact cause of AU is unknown, it is thought to be an autoimmune condition in which an affected person's immune system mistakenly attacks the hair follicles. Roughly 20% of affected people have a family member with alopecia, suggesting that genetic factors may contribute to the development of AU. There is currently no cure for AU, but sometimes hair regrowth occurs on it's own, even after many years.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Infectious Diseases ?"}, {"role": "assistant", "content": "Infectious diseases kill more people worldwide than any other single cause. Infectious diseases are caused by germs. Germs are tiny living things that are found everywhere - in air, soil and water. You can get infected by touching, eating, drinking or breathing something that contains a germ. Germs can also spread through animal and insect bites, kissing and sexual contact. Vaccines, proper hand washing and medicines can help prevent infections. There are four main kinds of germs: - Bacteria - one-celled germs that multiply quickly and may release chemicals which can make you sick - Viruses - capsules that contain genetic material, and use your own cells to multiply - Fungi - primitive plants, like mushrooms or mildew - Protozoa - one-celled animals that use other living things for food and a place to live NIH: National Institute of Allergy and Infectious Diseases", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Bipolar Disorder ?"}, {"role": "assistant", "content": "Bipolar disorder is a serious mental illness. People who have it go through unusual mood changes. They go from very happy, \"up,\" and active to very sad and hopeless, \"down,\" and inactive, and then back again. They often have normal moods in between. The up feeling is called mania. The down feeling is depression. The causes of bipolar disorder aren't always clear. It runs in families. Abnormal brain structure and function may also play a role. Bipolar disorder often starts in a person's late teen or early adult years. But children and adults can have bipolar disorder too. The illness usually lasts a lifetime. If you think you may have it, tell your health care provider. A medical checkup can rule out other illnesses that might cause your mood changes. If not treated, bipolar disorder can lead to damaged relationships, poor job or school performance, and even suicide. However, there are effective treatments to control symptoms: medicine and talk therapy. A combination usually works best. NIH: National Institute of Mental Health", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Urinary Incontinence in Children ?"}, {"role": "assistant", "content": "The exact cause of most cases of nighttime UI is not known. Though a few cases are caused by structural problems in the urinary tract, most cases probably result from a mix of factors including slower physical development, an overproduction of urine at night, and the inability to recognize bladder filling when asleep. Nighttime UI has also been associated with attention deficit hyperactivity disorder (ADHD), OSA, and anxiety. Children also may inherit genes from one or both parents that make them more likely to have nighttime UI.\n \nSlower Physical Development\n \nBetween the ages of 5 and 10, bedwetting may be the result of a small bladder capacity, long sleeping periods, and underdevelopment of the bodys alarms that signal a full or emptying bladder. This form of UI fades away as the bladder grows and the natural alarms become operational.\n \nOverproduction of Urine at Night\n \nThe body produces antidiuretic hormone (ADH), a natural chemical that slows down the production of urine. More ADH is produced at night so the need to urinate lessens. If the body does not produce enough ADH at night, the production of urine may not slow down, leading to bladder overfilling. If a child does not sense the bladder filling and awaken to urinate, wetting will occur.\n \nStructural Problems\n \nA small number of UI cases are caused by physical problems in the urinary tract. Rarely, a blocked bladder or urethra may cause the bladder to overfill and leak. Nerve damage associated with the birth defect spina bifida can cause UI. In these cases, UI can appear as a constant dribbling of urine.\n \nAttention Deficit Hyperactivity Disorder\n \nChildren with ADHD are three times more likely to have nighttime UI than children without ADHD.2 The connection between ADHD and bedwetting has not been explained, but some experts theorize that both conditions are related to delays in central nervous system development.\n \nObstructive Sleep Apnea\n \nNighttime UI may be one sign of OSA. Other symptoms of OSA include snoring, mouth breathing, frequent ear and sinus infections, sore throat, choking, and daytime drowsiness. Experts believe that when the airway in people with OSA closes, a chemical may be released in the body that increases water production and inhibits the systems that regulate fluid volume. Successful treatment of OSA often resolves the associated nighttime UI.\n \nAnxiety\n \nAnxiety-causing events that occur between 2 and 4 years of agebefore total bladder control is achievedmight lead to primary enuresis. Anxiety experienced after age 4 might lead to secondary enuresis in children who have been dry for at least 6 months. Events that cause anxiety in children include physical or sexual abuse; unfamiliar social situations, such as moving or starting at a new school; and major family events such as the birth of a sibling, a death, or divorce.\n \nUI itself is an anxiety-causing event. Strong bladder contractions resulting in daytime leakage can cause embarrassment and anxiety that lead to nighttime wetting.\n \nGenetics\n \nCertain genes have been found to contribute to UI. Children have a 30 percent chance of having nighttime UI if one parent was affected as a child. If both parents were affected, there is a 70 percent chance of bedwetting.1", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Limb-girdle muscular dystrophy, type 2C ?"}, {"role": "assistant", "content": "Limb-girdle muscular dystrophy type 2C (LGMD2C) is a condition that affects the muscles and is caused by mutations in the gamma-sarcoglycan gene. This condition belongs to a group of muscle disorders called limb-girdle muscular dystrophies, which are characterized by progressive loss of muscle bulk and symmetrical weakening of voluntary muscles, primarily those in the shoulders and around the hips. LGMD2C is inherited in an autosomal recessive manner, and treatment is based on an individual's symptoms.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by renal tubular dysgenesis ?"}, {"role": "assistant", "content": "Renal tubular dysgenesis is a rare disorder, but its prevalence is unknown.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Simple Kidney Cysts ?"}, {"role": "assistant", "content": "The kidneys are two bean-shaped organs, each about the size of a fist. They are located near the middle of the back, just below the rib cage, one on each side of the spine. Every day, the two kidneys process about 200 quarts of blood to filter out about 1 to 2 quarts of urine, composed of waste products and extra water. The urine flows from the kidneys to the bladder through tubes called ureters. The bladder stores urine until releasing it through urination.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Who is at risk for Atherosclerosis? ?"}, {"role": "assistant", "content": "The exact cause of atherosclerosis isn't known. However, certain traits, conditions, or habits may raise your risk for the disease. These conditions are known as risk factors. The more risk factors you have, the more likely it is that you'll develop atherosclerosis.\n \nYou can control most risk factors and help prevent or delay atherosclerosis. Other risk factors can't be controlled.\n \nMajor Risk Factors\n \nUnhealthy blood cholesterol levels. This includes high LDL cholesterol (sometimes called \"bad\" cholesterol) and low HDL cholesterol (sometimes called \"good\" cholesterol).\n \nHigh blood pressure. Blood pressure is considered high if it stays at or above 140/90 mmHg over time. If you have diabetes or chronic kidney disease, high blood pressure is defined as 130/80 mmHg or higher. (The mmHg is millimeters of mercurythe units used to measure blood pressure.)\n \nSmoking. Smoking can damage and tighten blood vessels, raise cholesterol levels, and raise blood pressure. Smoking also doesn't allow enough oxygen to reach the body's tissues.\n \nInsulin resistance. This condition occurs if the body can't use its insulin properly. Insulin is a hormone that helps move blood sugar into cells where it's used as an energy source. Insulin resistance may lead to diabetes.\n \nDiabetes. With this disease, the body's blood sugar level is too high because the body doesn't make enough insulin or doesn't use its insulin properly.\n \nOverweight or obesity. The terms \"overweight\" and \"obesity\" refer to body weight that's greater than what is considered healthy for a certain height.\n \nLack of physical activity. A lack of physical activity can worsen other risk factors for atherosclerosis, such as unhealthy blood cholesterol levels, high blood pressure, diabetes, and overweight and obesity.\n \nUnhealthy diet. An unhealthy diet can raise your risk for atherosclerosis. Foods that are high in saturated and trans fats, cholesterol, sodium (salt), and sugar can worsen other atherosclerosis risk factors.\n \nOlder age. As you get older, your risk for atherosclerosis increases. Genetic or lifestyle factors cause plaque to build up in your arteries as you age. By the time you're middle-aged or older, enough plaque has built up to cause signs or symptoms. In men, the risk increases after age 45. In women, the risk increases after age 55.\n \nFamily history of early heart disease. Your risk for atherosclerosis increases if your father or a brother was diagnosed with heart disease before 55 years of age, or if your mother or a sister was diagnosed with heart disease before 65 years of age.\n \nAlthough age and a family history of early heart disease are risk factors, it doesn't mean that you'll develop atherosclerosis if you have one or both. Controlling other risk factors often can lessen genetic influences and prevent atherosclerosis, even in older adults.\n \nStudies show that an increasing number of children and youth are at risk for atherosclerosis. This is due to a number of causes, including rising childhood obesity rates.\n \nEmerging Risk Factors\n \nScientists continue to study other possible risk factors for atherosclerosis.\n \nHigh levels of a protein called C-reactive protein (CRP) in the blood may raise the risk for atherosclerosis and heart attack. High levels of CRP are a sign of inflammation in the body.\n \nInflammation is the body's response to injury or infection. Damage to the arteries' inner walls seems to trigger inflammation and help plaque grow.\n \nPeople who have low CRP levels may develop atherosclerosis at a slower rate than people who have high CRP levels. Research is under way to find out whether reducing inflammation and lowering CRP levels also can reduce the risk for atherosclerosis.\n \nHigh levels of triglycerides (tri-GLIH-seh-rides) in the blood also may raise the risk for atherosclerosis, especially in women. Triglycerides are a type of fat.\n \nStudies are under way to find out whether genetics may play a role in atherosclerosis risk.\n \nOther Factors That Affect Atherosclerosis\n \nOther factors also may raise your risk for atherosclerosis, such as:\n \nSleep apnea. Sleep apnea is a disorder that causes one or more pauses in breathing or shallow breaths while you sleep. Untreated sleep apnea can raise your risk for high blood pressure, diabetes, and even a heart attack or stroke.\n \nStress. Research shows that the most commonly reported \"trigger\" for a heart attack is an emotionally upsetting event, especially one involving anger.\n \nAlcohol. Heavy drinking can damage the heart muscle and worsen other risk factors for atherosclerosis. Men should have no more than two drinks containing alcohol a day. Women should have no more than one drink containing alcohol a day.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Mixed connective tissue disease ?"}, {"role": "assistant", "content": "How is mixed connective tissue disease diagnosed? Mixed connective tissue disease (MCTD) is often suspected after a physical examination reveals signs and symptoms associated with the condition. The diagnosis is supported by a blood test that shows high levels of antibodies associated with MCTD.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Bronchopulmonary Dysplasia ?"}, {"role": "assistant", "content": "Preventive Measures\n \nIf your doctor thinks you're going to give birth too early, he or she may give you injections of a corticosteroid medicine.\n \nThe medicine can speed up surfactant production in your baby. Surfactant is a liquid that coats the inside of the lungs. It helps keep the lungs open so your infant can breathe in air once he or she is born.\n \nCorticosteroids also can help your baby's lungs, brain, and kidneys develop more quickly while he or she is in the womb.\n \nPremature babies who have very low birth weights also might be given corticosteroids within the first few days of birth. Doctors sometimes prescribe inhaled nitric oxide shortly after birth for babies who have very low birth weights. This treatment can help improve the babies' lung function.\n \nThese preventive measures may help reduce infants' risk of respiratory distress syndrome (RDS), which can lead to BPD.\n \nTreatment for Respiratory Distress Syndrome\n \nThe goals of treating infants who have RDS include:\n \nReducing further injury to the lungs\n \nProviding nutrition and other support to help the lungs grow and recover\n \nPreventing lung infections by giving antibiotics\n \nTreatment of RDS usually begins as soon as an infant is born, sometimes in the delivery room. Most infants who have signs of RDS are quickly moved to a neonatal intensive care unit (NICU). They receive around-the-clock treatment from health care professionals who specialize in treating premature infants.\n \nTreatments for RDS include surfactant replacement therapy, breathing support with nasal continuous positive airway pressure (NCPAP) or a ventilator, oxygen therapy (oxygen given through nasal prongs, a mask, or a breathing tube), and medicines to treat fluid buildup in the lungs.\n \nFor more information about RDS treatments, go to the Health Topics Respiratory Distress Syndrome article.\n \nTreatment for Bronchopulmonary Dysplasia\n \nTreatment in the NICU is designed to limit stress on infants and meet their basic needs of warmth, nutrition, and protection. Once doctors diagnose BPD, some or all of the treatments used for RDS will continue in the NICU.\n \nSuch treatment usually includes:\n \nUsing radiant warmers or incubators to keep infants warm and reduce the risk of infection.\n \nOngoing monitoring of blood pressure, heart rate, breathing, and temperature through sensors taped to the babies' bodies.\n \nUsing sensors on fingers or toes to check the amount of oxygen in the infants' blood.\n \nGiving fluids and nutrients through needles or tubes inserted into the infants' veins. This helps prevent malnutrition and promotes growth. Nutrition is vital to the growth and development of the lungs. Later, babies may be given breast milk or infant formula through feeding tubes that are passed through their noses or mouths and into their throats.\n \nChecking fluid intake to make sure that fluid doesn't build up in the babies' lungs.\n \nAs BPD improves, babies are slowly weaned off NCPAP or ventilators until they can breathe on their own. These infants will likely need oxygen therapy for some time.\n \nIf your infant has moderate or severe BPD, echocardiography might be done every few weeks to months to check his or her pulmonary artery pressure.\n \nIf your child needs long-term ventilator support, he or she will likely get a tracheostomy (TRA-ke-OS-toe-me). A tracheostomy is a surgically made hole. It goes through the front of the neck and into the trachea (TRA-ke-ah), or windpipe. Your child's doctor will put the breathing tube from the ventilator through the hole.\n \nUsing a tracheostomy instead of an endotracheal (en-do-TRA-ke-al) tube has some advantages. (An endotracheal tube is a breathing tube inserted through the nose or mouth and into the windpipe.)\n \nLong-term use of an endotracheal tube can damage the trachea. This damage may need to be corrected with surgery later. A tracheostomy can allow your baby to interact more with you and the NICU staff, start talking, and develop other skills.\n \nWhile your baby is in the NICU, he or she also may need physical therapy. Physical therapy can help strengthen your child's muscles and clear mucus out of his or her lungs.\n \nInfants who have BPD may spend several weeks or months in the hospital. This allows them to get the care they need.\n \nBefore your baby goes home, learn as much as you can about your child's condition and how it's treated. Your baby may continue to have some breathing symptoms after he or she leaves the hospital.\n \nYour child will likely continue on all or some of the treatments that were started at the hospital, including:\n \nMedicines, such as bronchodilators, steroids, and diuretics.\n \nOxygen therapy or breathing support from NCPAP or a ventilator.\n \nExtra nutrition and calories, which may be given through a feeding tube.\n \nPreventive treatment with a medicine called palivizumab for severe respiratory syncytial virus (RSV). This common virus leads to mild, cold-like symptoms in adults and older, healthy children. However, in infantsespecially those in high-risk groupsRSV can lead to severe breathing problems.\n \nYour child also should have regular checkups with and timely vaccinations from a pediatrician. This is a doctor who specializes in treating children. If your child needs oxygen therapy or a ventilator at home, a pulmonary specialist might be involved in his or her care.\n \nSeek out support from family, friends, and hospital staff. Ask the case manager or social worker at the hospital about what you'll need after your baby leaves the hospital.\n \nThe doctors and nurses can assist with questions about your infant's care. Also, you may want to ask whether your community has a support group for parents of premature infants.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Vesicoureteral Reflux ?"}, {"role": "assistant", "content": "The two types of VUR are primary and secondary. Most cases of VUR are primary and typically affect only one ureter and kidney. With primary VUR, a child is born with a ureter that did not grow long enough during the childs development in the womb. The valve formed by the ureter pressing against the bladder wall does not close properly, so urine refluxes from the bladder to the ureter and eventually to the kidney. This type of VUR can get better or disappear as a child gets older. As a child grows, the ureter gets longer and function of the valve improves.\n \nSecondary VUR occurs when a blockage in the urinary tract causes an increase in pressure and pushes urine back up into the ureters. Children with secondary VUR often have bilateral reflux. VUR caused by a physical defect typically results from an abnormal fold of tissue in the urethra that keeps urine from flowing freely out of the bladder.\n \nVUR is usually classified as grade I through V, with grade I being the least severe and grade V being the most severe.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Schwartz Jampel syndrome type 1 ?"}, {"role": "assistant", "content": "How might Schwartz Jampel syndrome type 1 be treated? Treatment of Schwartz Jampel syndrome type 1 (SJS1) aims to reduce stiffness and cramping of muscles. This might include nonpharmacologic modalities such as massage, warming of muscles, and gradual strengthening exercises. Medications that might be utilized include muscle relaxants and anti seizure medications, particularly Carbamazepine. Botox might additionally be used to relieve eye symptoms such as blepharospasm (involuntary blinking of spasm of eyes). If Botox is not successful in managing eye symptoms, a variety of surgical techniques have been found to be effective. When considering surgery as an option, an important consideration is the risk for malignant hyperthermia, which could lead to adverse outcomes.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by Perrault syndrome ?"}, {"role": "assistant", "content": "Perrault syndrome is a rare disorder; fewer than 100 affected individuals have been described in the medical literature. It is likely that the condition is underdiagnosed, because males without an affected sister will likely be misdiagnosed as having isolated (nonsyndromic) hearing loss rather than Perrault syndrome.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "what research (or clinical trials) is being done for Vasculitis Syndromes of the Central and Peripheral Nervous Systems ?"}, {"role": "assistant", "content": "The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge of the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. Several NINDS-funded investigators are studying blood vessel damage and cerebral blood flow as it relates to stroke. The NINDS also funds research on vascular cognitive impairment, which is an important contributor to aging-related cognitive decline and is the result of impaired performance of the brain's small blood vessels. Additionally, the NINDS and other institutes of the National Institutes of Health (NIH) conduct research relating to vasculitis syndromes in laboratories at the NIH and also support vasculitis research through grants to major medical institutions across the country. The NINDS supports The Vasculitis Clinical Research Consortium (VCRC), a network of academic medical centers, patient support organizations, and clinical research resources dedicated to conducting clinical research and improving the care of individuals with various vasculitis disorders.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) sitosterolemia ?"}, {"role": "assistant", "content": "Sitosterolemia is a condition in which fatty substances (lipids) from vegetable oils, nuts, and other plant-based foods accumulate in the blood and tissues. These lipids are called plant sterols (or phytosterols). Sitosterol is one of several plant sterols that accumulate in this disorder, with a blood level 30 to 100 times greater than normal. Cholesterol, a similar fatty substance found in animal products, is mildly to moderately elevated in many people with sitosterolemia. Cholesterol levels are particularly high in some affected children. Plant sterols are not produced by the body; they are taken in as components of foods. Signs and symptoms of sitosterolemia begin to appear early in life after foods containing plant sterols are introduced into the diet. An accumulation of fatty deposits on the artery walls (atherosclerosis) may occur by adolescence or early adulthood in people with sitosterolemia. The deposits narrow the arteries and can eventually block blood flow, increasing the chance of a heart attack, stroke, or sudden death. People with sitosterolemia typically develop small yellowish growths called xanthomas beginning in childhood. The xanthomas consist of accumulated lipids and may be located anywhere on or just under the skin, typically on the heels, knees, elbows, and buttocks. They may also occur in the bands that connect muscles to bones (tendons), including tendons of the hand and the tendon that connects the heel of the foot to the calf muscles (the Achilles tendon). Large xanthomas can cause pain, difficulty with movement, and cosmetic problems. Joint stiffness and pain resulting from plant sterol deposits may also occur in individuals with sitosterolemia. Less often, affected individuals have blood abnormalities. Occasionally the blood abnormalities are the only signs of the disorder. The red blood cells may be broken down (undergo hemolysis) prematurely, resulting in a shortage of red blood cells (anemia). This type of anemia is called hemolytic anemia. Affected individuals sometimes have abnormally shaped red blood cells called stomatocytes. In addition, the blood cells involved in clotting, called platelets or thrombocytes, may be abnormally large (macrothrombocytopenia).", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Essential Thrombocythemia ?"}, {"role": "assistant", "content": "Patients with essential thrombocythemia may have no signs or symptoms. Essential thrombocythemia often does not cause early signs or symptoms. It may be found during a routine blood test. Signs and symptoms may be caused by essential thrombocytopenia or by other conditions. Check with your doctor if you have any of the following: - Headache. - Burning or tingling in the hands or feet. - Redness and warmth of the hands or feet. - Vision or hearing problems. Platelets are sticky. When there are too many platelets, they may clump together and make it hard for the blood to flow. Clots may form in blood vessels and there may also be increased bleeding. These can cause serious health problems such as stroke or heart attack.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "what research (or clinical trials) is being done for Parkinson's Disease ?"}, {"role": "assistant", "content": "The National Institute of Neurological Disorders and Stroke (NINDS) conducts PD research in laboratories at the National Institutes of Health (NIH) and also supports additional research through grants to major medical institutions across the country. Current research programs funded by the NINDS are using animal models to study how the disease progresses and to develop new drug therapies. Scientists looking for the cause of PD continue to search for possible environmental factors, such as toxins, that may trigger the disorder, and study genetic factors to determine how defective genes play a role. Other scientists are working to develop new protective drugs that can delay, prevent, or reverse the disease.\n \nhttp://www.ninds.nih.gov/research/parkinsonsweb/index.htm", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) ?"}, {"role": "assistant", "content": "On this Page General Information What is vancomycin-resistant enterococci? What types of infections does vancomycin-resistant enterococci cause? Are certain people at risk of getting vancomycin-resistant enterococci? What is the treatment for vancomycin-resistant enterococci? How is vancomycin-resistant enterococci spread? How can patients prevent the spread of vancomycin-resistant enterococci? What should a patient do if they think they have vancomycin-resistant enterococci? Recommendations and Guidelines General Information For more images of this bacterium, search the Public Health Image Library What is vancomycin-resistant enterococci? Enteroccocci are bacteria that are normally present in the human intestines and in the female genital tract and are often found in the environment. These bacteria can sometimes cause infections. Vancomycin is an antibiotic that is used to treat some drug-resistant infections caused by enterococci. In some instances, enterococci have become resistant to this drug and thus are called vancomycin-resistant enterococci (VRE). Most VRE infections occur in hospitals. Top of page What types of infections does VRE cause? VRE can live in the human intestines and female genital tract without causing disease (often called colonization). However, sometimes it can cause infections of the urinary tract, the bloodstream, or of wounds associated with catheters or surgical procedures. Top of page Are certain people at risk of getting VRE? The following persons are at increased risk becoming infected with VRE: People who have been previously treated with the antibiotic vancomycin or other antibiotics for long periods of time. People who are hospitalized, particularly when they receive antibiotic treatment for long periods of time. People with weakened immune systems such as patients in intensive care units, or in cancer or transplant wards. People who have undergone surgical procedures such as abdominal or chest surgery. People with medical devices that stay in for some time such as urinary catheters or central intravenous (IV) catheters. People who are colonized with VRE. Top of page What is the treatment for VRE? People with colonized VRE (bacteria are present, but have no symptoms of an infection) do not need treatment. Most VRE infections can be treated with antibiotics other than vancomycin. Laboratory testing of the VRE can determine which antibiotics will work. For people who get VRE infections in their bladder and have urinary catheters, removal of the catheter when it is no longer needed can also help get rid of the infection. Top of page How is VRE spread? VRE is often passed from person to person by the contaminated hands of caregivers. VRE can get onto a caregiver's hands after they have contact with other people with VRE or after contact with contaminated surfaces. VRE can also be spread directly to people after they touch surfaces that are contaminated with VRE. VRE is not spread through the air by coughing or sneezing. Top of page How can patients prevent the spread of VRE? If a patient or someone in their household has VRE, the following are some things they can do to prevent the spread of VRE: Keep their hands clean. Always wash their hands thoroughly after using the bathroom and before preparing food. Clean their hands after contact with persons who have VRE. Wash with soap and water (particularly when visibly soiled) or use alcohol-based hand rubs. Frequently clean areas of the home, such as bathrooms, that may become contaminated with VRE. Wear gloves if hands may come in contact with body fluids that may contain VRE, such as stool or bandages from infected wounds. Always wash their hands after removing gloves. If someone has VRE, be sure to tell healthcare providers so that they are aware of the infection. Healthcare facilities use special precautions to help prevent the spread of VRE to others. Top of page What should patients do if they think they have vancomycin-resistant enterococci (VRE)? Anyone who thinks they have VRE must talk with their healthcare provider. Top of page Recommendations and Guidelines For more information about prevention and treatment of HAIs, see the resources below: Siegel JD, Rhinehart E, Jackson M, et al. The Healthcare Infection Control Practices Advisory Committee (HICPAC). Management of Multidrug-Resistant Organisms In Healthcare Settings, 2006", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to prevent Urinary Tract Infections in Children ?"}, {"role": "assistant", "content": "If a child has a normal urinary tract, parents can help the child avoid UTIs by encouraging regular trips to the bathroom. The parents should make sure the child gets enough to drink if infrequent urination is a problem. The child should be taught proper cleaning techniques after using the bathroom to keep bacteria from entering the urinary tract. Loose-fitting clothes and cotton underwear allow air to dry the area. Parents should consult a health care provider about the best ways to treat constipation.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Prostate Cancer ?"}, {"role": "assistant", "content": "- a need to urinate frequently, especially at night - difficulty starting urination or holding back urine - inability to urinate - weak or interrupted flow of urine a need to urinate frequently, especially at night difficulty starting urination or holding back urine inability to urinate weak or interrupted flow of urine If prostate cancer develops and is not treated, it can cause these symptoms: - painful or burning urination - difficulty in having an erection - painful ejaculation - blood in urine or semen - pain or stiffness in the lower back, hips, or upper thighs painful or burning urination difficulty in having an erection painful ejaculation blood in urine or semen pain or stiffness in the lower back, hips, or upper thighs", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Hypotension ?"}, {"role": "assistant", "content": "Orthostatic Hypotension and Neurally Mediated Hypotension\n \nThe signs and symptoms of orthostatic hypotension and neurally mediated hypotension (NMH) are similar. They include:\n \nDizziness or light-headedness\n \nBlurry vision\n \nConfusion\n \nWeakness\n \nFatigue (feeling tired)\n \nNausea (feeling sick to your stomach)\n \nOrthostatic hypotension may happen within a few seconds or minutes of standing up after you've been sitting or lying down.\n \nYou may feel that you're going to faint, or you may actually faint. These signs and symptoms go away if you sit or lie down for a few minutes until your blood pressure adjusts to normal.\n \nThe signs and symptoms of NMH occur after standing for a long time or in response to an unpleasant, upsetting, or scary situation. The drop in blood pressure with NMH doesn't last long and often goes away after sitting down.\n \nSevere Hypotension Linked to Shock\n \nIn shock, not enough blood and oxygen flow to the body's major organs, including the brain. The early signs and symptoms of reduced blood flow to the brain include light-headedness, sleepiness, and confusion.\n \nIn the earliest stages of shock, it may be hard to detect any signs or symptoms. In older people, the first symptom may only be confusion.\n \nOver time, as shock worsens, a person won't be able to sit up without passing out. If the shock continues, the person will lose consciousness. Shock often is fatal if not treated right away.\n \nOther signs and symptoms of shock vary, depending on what's causing the shock. When low blood volume (from major blood loss, for example) or poor pumping action in the heart (from heart failure, for example) causes shock:\n \nThe skin becomes cold and sweaty. It often looks blue or pale. If pressed, the color returns to normal more slowly than usual. A bluish network of lines appears under the skin.\n \nThe pulse becomes weak and rapid.\n \nThe person begins to breathe very quickly.\n \nWhen extreme relaxation of blood vessels causes shock (such as in vasodilatory shock), a person feels warm and flushed at first. Later, the skin becomes cold and sweaty, and the person feels very sleepy.\n \nShock is an emergency and must be treated right away. If a person has signs or symptoms of shock, call 911.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Andersen-Tawil syndrome ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of Andersen-Tawil syndrome: - Gene Review: Gene Review: Andersen-Tawil Syndrome - Genetic Testing Registry: Andersen Tawil syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is the outlook for Tourette Syndrome ?"}, {"role": "assistant", "content": "Although TS can be a chronic condition with symptoms lasting a lifetime, most people with the condition experience their worst symptoms in their early teens, with improvement occurring in the late teens and continuing into adulthood. As a result, some individuals may actually become symptom free or no longer need medication for tic suppression.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Breast Cancer ?"}, {"role": "assistant", "content": "One definition of cure is being alive and free of breast cancer for 5 years. If the cancer is found early, a woman's chances of survival are better. In fact, nearly 98 percent of women who discover their breast cancer when it is near the site of origin and still small in size are alive 5 years later. However, women whose cancer is diagnosed at a late stage, after it has spread to other parts of the body, have only a 23.3 percent chance of surviving 5 years. To learn more about what happens after treatment, see Surviving Cancer.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Osteochondritis dissecans ?"}, {"role": "assistant", "content": "What are the signs and symptoms of osteochondritis dissecans? The signs and symptoms of osteochondritis dissecans vary from person to person. If the piece of cartilage and bone remain close to where they detached, they may not cause any symptoms. However, affected people may experience the following if the cartilage and bone travel into the joint space: Pain, swelling and/or tenderness Joint popping Joint weakness Decreased range of motion Although osteochondritis dissecans can develop in any joint of the body, the knee, ankle and elbow are most commonly affected. Most people only develop the condition in a single joint.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Hypophosphatemic rickets ?"}, {"role": "assistant", "content": "Hypophosphatemic rickets (previously called vitamin D-resistant rickets) is a disorder in which the bones become painfully soft and bend easily, due to low levels of phosphate in the blood. Symptoms usually begin in early childhood and can range in severity. Severe forms may cause bowing of the legs and other bone deformities; bone pain; joint pain; poor bone growth; and short stature. In some affected babies, the space between the skull bones closes too soon (craniosynostosis). This sometimes results in developmental abnormalities. Hypophosphatemic rickets is almost always inherited and may be caused by changes (mutations) in any of several genes. Most commonly it is due to the PHEX gene and inherited in an X-linked dominant manner. Less commonly it is inherited in an X-linked recessive manner (often called Dent disease); autosomal dominant manner; or autosomal recessive manner. Treatment involves taking phosphate and calcitriol in order to raise phosphate levels in the blood and promote normal bone formation.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) hystrix-like ichthyosis with deafness ?"}, {"role": "assistant", "content": "Hystrix-like ichthyosis with deafness (HID) is a disorder characterized by dry, scaly skin (ichthyosis) and hearing loss that is usually profound. Hystrix-like means resembling a porcupine; in this type of ichthyosis, the scales may be thick and spiky, giving the appearance of porcupine quills. Newborns with HID typically develop reddened skin. The skin abnormalities worsen over time, and the ichthyosis eventually covers most of the body, although the palms of the hands and soles of the feet are usually only mildly affected. Breaks in the skin may occur and in severe cases can lead to life-threatening infections. Affected individuals have an increased risk of developing a type of skin cancer called squamous cell carcinoma, which can also affect mucous membranes such as the inner lining of the mouth. People with HID may also have patchy hair loss caused by scarring on particular areas of skin.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Subacute cerebellar degeneration ?"}, {"role": "assistant", "content": "Subacute cerebellar degeneration is the breakdown of the area of the brain that controls muscle coordination and balance (the cerebellum). Less commonly, the area connecting the spinal cord to the brain is involved. Subacute cerebellar degeneration may occur in association with a cancer (paraneoplastic cerebellar degeneration) or lack of thiamine (alcoholic or nutritional cerebellar degeneration). Signs and symptoms may include ataxia, speech and swallowing problems, dementia, vision problems, and vertigo.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Anal Cancer ?"}, {"role": "assistant", "content": "Tests that examine the rectum and anus are used to detect (find) and diagnose anal cancer. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken. - Digital rectal examination (DRE): An exam of the anus and rectum. The doctor or nurse inserts a lubricated, gloved finger into the lower part of the rectum to feel for lumps or anything else that seems unusual. - Anoscopy: An exam of the anus and lower rectum using a short, lighted tube called an anoscope. - Proctoscopy : An exam of the rectum using a short, lighted tube called a proctoscope. - Endo-anal or endorectal ultrasound : A procedure in which an ultrasound transducer (probe) is inserted into the anus or rectum and used to bounce high-energy sound waves (ultrasound) off internal tissues or organs and make echoes. The echoes form a picture of body tissues called a sonogram. - Biopsy : The removal of cells or tissues so they can be viewed under a microscope by a pathologist to check for signs of cancer. If an abnormal area is seen during the anoscopy, a biopsy may be done at that time.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is tuberous sclerosis complex inherited ?"}, {"role": "assistant", "content": "Tuberous sclerosis complex has an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to increase the risk of developing tumors and other problems with development. In about one-third of cases, an affected person inherits an altered TSC1 or TSC2 gene from a parent who has the disorder. The remaining two-thirds of people with tuberous sclerosis complex are born with new mutations in the TSC1 or TSC2 gene. These cases, which are described as sporadic, occur in people with no history of tuberous sclerosis complex in their family. TSC1 mutations appear to be more common in familial cases of tuberous sclerosis complex, while mutations in the TSC2 gene occur more frequently in sporadic cases.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for CHOPS syndrome ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of CHOPS syndrome: - Genetic Testing Registry: Chops syndrome - MedlinePlus Encyclopedia: Congenital Heart Defect -- Corrective Surgery These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Diagnosis of Diabetes and Prediabetes ?"}, {"role": "assistant", "content": "Prediabetes is when blood glucose levels are higher than normal but not high enough for a diagnosis of diabetes. Prediabetes means a person is at increased risk for developing type 2 diabetes, as well as for heart disease and stroke. Many people with prediabetes develop type 2 diabetes within 10 years.\n \nHowever, modest weight loss and moderate physical activity can help people with prediabetes delay or prevent type 2 diabetes.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for collagen VI-related myopathy ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of collagen VI-related myopathy: - Gene Review: Gene Review: Collagen Type VI-Related Disorders - Genetic Testing Registry: Bethlem myopathy - Genetic Testing Registry: Collagen Type VI-Related Autosomal Dominant Limb-girdle Muscular Dystrophy - Genetic Testing Registry: Collagen VI-related myopathy - Genetic Testing Registry: Ullrich congenital muscular dystrophy - Muscular Dystrophy UK: Could Cyclosporine A be used to treat Bethlem myopathy and Ullrich congenital muscular dystrophy? These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Schimke immuno-osseous dysplasia ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of Schimke immuno-osseous dysplasia: - Gene Review: Gene Review: Schimke Immunoosseous Dysplasia - Genetic Testing Registry: Schimke immunoosseous dysplasia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to prevent Parasites - Baylisascaris infection ?"}, {"role": "assistant", "content": "Baylisascaris infection can be prevented by avoiding contact with raccoons and their feces. Washing your hands after working or playing outdoors is good practice for preventing a number of diseases.\n \nDo not keep, feed, or adopt wild animals, including raccoons, as pets. Infection rarely causes symptoms in raccoons, so you cannot tell if a raccoon is infected by observing its behavior. Roundworm eggs passed in the feces of infected raccoons are not visible to the naked eye. Eggs can only be seen using a microscope.\n \n \n \n \nYou may discourage raccoons from living in and around your home or parks by taking these steps:\n \n - prevent access to food\n - keep trash containers tightly closed\n - close off access to attics and basements\n - keep sandboxes covered when not in use (raccoons may use sandboxes as a latrine)\n - remove fish ponds -- they eat the fish and drink the water\n - eliminate water sources\n - remove bird feeders\n - clear brush so raccoons are not likely to make a den on your property\n \n \nStay away from areas and materials that might be contaminated by raccoon feces. Raccoons typically defecate at the base of or in raised forks of trees, or on raised horizontal surfaces such as fallen logs, stumps, or large rocks. Raccoon feces also can be found on woodpiles, decks, rooftops, and in attics, garages, and haylofts. Feces usually are dark and tubular, have a pungent odor (usually worse than dog or cat feces), and often contain undigested seeds or other food items.\n \nIf you have found a raccoon latrine near your home, cleaning the area may prevent possible infection. Newly deposited eggs take at least 2-4 weeks to become infective. Prompt removal and destruction of raccoon feces will reduce risk for exposure and possible infection.\n \nMore on: Raccoon Latrine Clean-up [PDF, 111 KB, 1 page]\n \n \n \n \nIf you choose to clean the site yourself, care should be taken to avoid contaminating hands and clothes.\n \n - Wear disposable gloves to help prevent cross contamination.\n - Wear a N95-rated respirator if working in a confined space to prevent accidental ingestion of eggs or other harmful materials.\n - Avoid stirring up dust and debris- you can lightly mist the latrine area with a little water from a spray bottle to reduce the amount of dust.\n - Wear rubber boots that can be scrubbed or cover your shoes with disposable booties that can be thrown away, so that you do not bring eggs into your household.\n - Feces and material contaminated with raccoon feces should be removed and burned, buried, or sent to a landfill.\n - Most chemicals do not kill roundworm eggs; however, heat kills the eggs instantly.\n - Treat feces-soiled decks, patios, and other surfaces with boiling water or a propane torch (please contact your local fire department for regulations and safety practices).\n \n \nTo help further reduce the risk of possible infection, wash your hands well with soap and warm running water. Clean/launder your clothes thoroughly with hot water and detergent.\n \nMore on: Handwashing\n \nIf you are cleaning an indoor raccoon latrine and are not able to use a propane torch, use a damp (but not wet) sponge to wipe the area with hot soapy water. Rinse your sponge frequently. After you are finished, flush dirty water down the toilet. Place the sponge in a plastic bag and put the plastic bag in the garbage.\n \nContact your local animal control office for additional assistance.\n Dogs\n \nDogs may be infected with adult B. procyonis roundworms, but may not show symptoms. Have all pets de-wormed under a veterinarian's supervision and take precautions to avoid contact with their feces.\n Exotic pets\n \nRaccoons and dogs are not the only hosts of Baylisascaris. B. procyonis infection has also been documented in kinkajous. Other animals such as coatis may be susceptible. When wild animals are kept as pets, there can be a risk of disease transmission to humans.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy ?"}, {"role": "assistant", "content": "CARASIL is caused by mutations in the HTRA1 gene. This gene provides instructions for making an enzyme that is found in many of the body's organs and tissues. One of the major functions of the HTRA1 enzyme is to regulate signaling by proteins in the transforming growth factor-beta (TGF-) family. TGF- signaling is essential for many critical cell functions. It also plays an important role in the formation of new blood vessels (angiogenesis). In people with CARASIL, mutations in the HTRA1 gene prevent the effective regulation of TGF- signaling. Researchers suspect that abnormally increased TGF- signaling alters the structure of small blood vessels, particularly in the brain. These blood vessel abnormalities (described as arteriopathy) greatly increase the risk of stroke and lead to the death of nerve cells (neurons) in many areas of the brain. Dysregulation of TGF- signaling may also underlie the hair loss and back pain seen in people with CARASIL, although the relationship between abnormal TGF- signaling and these features is less clear.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Anauxetic dysplasia ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Anauxetic dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Anauxetic dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Brachydactyly syndrome - Cervical cord compression - Cervical subluxation - Delayed ossification of carpal bones - Flared metaphysis - Hypertelorism - Hypodontia - Hypoplastic ilia - Intellectual disability - J-shaped sella turcica - Platyspondyly - Rhizomelia - Short finger - Short neck - Short toe - Small epiphyses - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Tethered Spinal Cord Syndrome ?"}, {"role": "assistant", "content": "Tethered spinal cord syndrome is a neurological disorder caused by tissue attachments that limit the movement of the spinal cord within the spinal column. Attachments may occur congenitally at the base of the spinal cord (conus medullaris) or they may develop near the site of an injury to the spinal cord. These attachments cause an abnormal stretching of the spinal cord. The course of the disorder is progressive. In children, symptoms may include lesions, hairy patches, dimples, or fatty tumors on the lower back; foot and spinal deformities; weakness in the legs; low back pain; scoliosis; and incontinence. This type of tethered spinal cord syndrome appears to be the result of improper growth of the neural tube during fetal development, and is closely linked to spina bifida. Tethered spinal cord syndrome may go undiagnosed until adulthood, when pain, sensory and motor problems, and loss of bowel and bladder control emerge. This delayed presentation of symptoms is related to the degree of strain placed on the spinal cord over time and may be exacerbated during sports or pregnancy, or may be due to narrowing of the spinal column (stenosis) with age. Tethering may also develop after spinal cord injury and scar tissue can block the flow of fluids around the spinal cord. Fluid pressure may cause cysts to form in the spinal cord, a condition called syringomyelia. This can lead to additional loss of movement, feeling or the onset of pain or autonomic symptoms.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Reducing body myopathy ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Reducing body myopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Reducing body myopathy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Dilated cardiomyopathy 5% Areflexia - Elevated serum creatine phosphokinase - Flexion contracture - Frequent falls - Hyperlordosis - Hyporeflexia - Increased variability in muscle fiber diameter - Kyphosis - Proximal muscle weakness - Rapidly progressive - Respiratory insufficiency due to muscle weakness - Scoliosis - Short neck - Spinal rigidity - X-linked dominant inheritance - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Hyperlipidemia type 3 ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Hyperlipidemia type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Hyperlipidemia type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal glucose tolerance - Angina pectoris - Hypercholesterolemia - Hypertriglyceridemia - Obesity - Peripheral arterial disease - Xanthomatosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Nicolaides-Baraitser syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Nicolaides-Baraitser syndrome? Nicolaides-Baraitser syndrome (NCBRS) is typically characterized by intellectual disability, seizures, short stature, sparse hair, distinctive facial features, short fingers and toes (brachydactyly), and prominent joints of the fingers and toes (called interphalangeal joints). Some features of the condition may vary among affected people. All people with NCBRS have intellectual disability. In most cases it is severe, but in some cases it may be moderate or mild. Language is particularly limited, with at least 30% of affected people never developing speech. Major motor milestones such as sitting and walking are usually not very delayed. People with NCBRS are often happy and friendly, but may have temper tantrums or periods of aggression. Some people have some symptoms of autism spectrum disorder. Epilepsy occurs in about 2/3 of affected people. The type of seizures that occur can vary. Facial characteristics are usually not recognized in younger affected people. They may include a triangular-shaped face; prominent eyelashes; a nose with a broad base, thick nostrils, and upturned tip; a broad philtrum; and wide mouth. The palpebral fissures (width of the eyes) are sometimes narrow and/or downslanting. As people with NCBRS age, the amount of subcutaneous fat tissue tends to decrease, making the skin below the eyes sagging and wrinkled, especially at the cheeks when smiling. However, some affected people retain full cheeks. Facial characteristics typically become more pronounced with increasing age. In some affected adults, the lower third of the face becomes markedly broad. Sparse scalp hair is a major feature of NCBRS and is present in almost all affected people. It often gradually worsens with age, but in some people it improves over time. Skin is usually wrinkled and more noticeable in the distal limbs. Teeth may be widely spaced, and eruption of teeth (baby or adult) may be delayed. While the hands and feet usually appear normal at birth, the interphalangeal joints become prominent in the majority of affected people. Bone age can vary, and osteoporosis is not uncommon. The Human Phenotype Ontology provides the following list of signs and symptoms for Nicolaides-Baraitser syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair quantity 90% Abnormal joint morphology 90% Abnormality of the palate 90% Anteverted nares 90% Brachydactyly syndrome 90% Cognitive impairment 90% Long philtrum 90% Microcephaly 90% Neurological speech impairment 90% Thin vermilion border 90% Triangular face 90% Wide mouth 90% Abnormality of the distal phalanx of finger 50% Abnormality of the eyelashes 50% Abnormality of the metacarpal bones 50% Abnormality of the nipple 50% Blepharophimosis 50% Clubbing of toes 50% Cryptorchidism 50% Eczema 50% Highly arched eyebrow 50% Narrow nasal bridge 50% Sandal gap 50% Scoliosis 50% Seizures 50% Short stature 50% Abnormality of epiphysis morphology 7.5% Accelerated skeletal maturation 7.5% Delayed skeletal maturation 7.5% Hernia 7.5% Short stature 13 of 23 Narrow nasal bridge 12 of 22 Widely spaced teeth 11 of 21 Scoliosis 9 of 22 Unilateral narrow palpebral fissure 9 of 22 Eczema 8 of 23 Absent speech - Aggressive behavior - Broad philtrum - Failure to thrive - Intellectual disability, severe - Intrauterine growth retardation - Low anterior hairline - Poor speech - Prominent interphalangeal joints - Short metacarpal - Short metatarsal - Short phalanx of finger - Sparse scalp hair - Thick lower lip vermilion - Wide nasal base - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Renal Artery Stenosis ?"}, {"role": "assistant", "content": "About 90 percent of RAS is caused by atherosclerosisclogging, narrowing, and hardening of the renal arteries.2 In these cases, RAS develops when plaquea sticky substance made up of fat, cholesterol, calcium, and other material found in the bloodbuilds up on the inner wall of one or both renal arteries. Plaque buildup is what makes the artery wall hard and narrow.\n \nMost other cases of RAS are caused by fibromuscular dysplasia (FMD)the abnormal development or growth of cells on the renal artery wallswhich can cause blood vessels to narrow. Rarely, RAS is caused by other conditions.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for pyruvate kinase deficiency ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of pyruvate kinase deficiency: - Cincinnati Children's Hospital Medical Center: Hemolytic Anemia - Genetic Testing Registry: Pyruvate kinase deficiency of red cells - Johns Hopkins Medicine: Hemolytic Anemia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Familial hemiplegic migraine type 1 ?"}, {"role": "assistant", "content": "Familial hemiplegic migraine (FHM) is a form of migraine headache that runs in families. Migraines usually cause intense, throbbing pain in one area of the head, often accompanied by nausea, vomiting, and extreme sensitivity to light and sound. These recurrent headaches typically begin in childhood or adolescence and may last from a few hours to a few days. People with familial hemiplegic migraine experience an aura that comes before the headache. The most common symptoms associated with an aura are temporary visual changes such as blind spots (scotomas), flashing lights, zig-zagging lines, and double vision. In people with familial hemiplegic migraine, auras are also characterized by temporary numbness or weakness, often affecting one side of the body (hemiparesis). An aura typically develops gradually over a few minutes and lasts about an hour. Researchers have identified three forms of familial hemiplegic migraine known as FHM1, FHM2, and FHM3. Each of the three types is caused by mutations in a different gene.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is myosin storage myopathy inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Cowden syndrome inherited ?"}, {"role": "assistant", "content": "How is Cowden syndrome inherited? Cowden syndrome is inherited in an autosomal dominant manner. This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene. These cases occur in people with no history of the disorder in their family. A person with Cowden syndrome has a 50% chance with each pregnancy of passing along the altered gene to his or her child.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Galloway-Mowat syndrome inherited ?"}, {"role": "assistant", "content": "How is Galloway-Mowat syndrome inherited? Galloway-Mowat syndrome is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has a: 25% (1 in 4) chance to be affected 50% (1 in 2) chance to be an unaffected carrier like each parent 25% chance to be unaffected and not be a carrier", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to Carney complex ?"}, {"role": "assistant", "content": "Mutations in the PRKAR1A gene cause most cases of Carney complex. This gene provides instructions for making one part (subunit) of an enzyme called protein kinase A, which promotes cell growth and division (proliferation). The subunit produced from the PRKAR1A gene, called type 1 alpha, helps control whether protein kinase A is turned on or off. Most mutations in the PRKAR1A gene that cause Carney complex result in an abnormal type 1 alpha subunit that is quickly broken down (degraded) by the cell. The lack of this subunit causes protein kinase A to be turned on more often than normal, which leads to uncontrolled cell proliferation. The signs and symptoms of Carney complex are related to the unregulated growth of cells in many parts of the body. Some individuals with Carney complex do not have identified mutations in the PRKAR1A gene. In many of these cases, the disorder is associated with a specific region on the short (p) arm of chromosome 2, designated as 2p16. Researchers have not discovered the gene within this region that is responsible for Carney complex.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) dyserythropoietic anemia and thrombocytopenia ?"}, {"role": "assistant", "content": "Dyserythropoietic anemia and thrombocytopenia is a condition that affects blood cells and primarily occurs in males. A main feature of this condition is a type of anemia called dyserythropoietic anemia, which is characterized by a shortage of red blood cells. The term \"dyserythropoietic\" refers to the abnormal red blood cell formation that occurs in this condition. In affected individuals, immature red blood cells are unusually shaped and cannot develop into functional mature cells, leading to a shortage of healthy red blood cells. People with dyserythropoietic anemia and thrombocytopenia can have another blood disorder characterized by a reduced level of circulating platelets (thrombocytopenia). Platelets are cell fragments that normally assist with blood clotting. Thrombocytopenia can cause easy bruising and abnormal bleeding. While people with dyserythropoietic anemia and thrombocytopenia can have signs and symptoms of both blood disorders, some are primarily affected by anemia, while others are more affected by thrombocytopenia. The most severe cases of dyserythropoietic anemia and thrombocytopenia are characterized by hydrops fetalis, a condition in which excess fluid builds up in the body before birth. For many others, the signs and symptoms of dyserythropoietic anemia and thrombocytopenia begin in infancy. People with this condition experience prolonged bleeding or bruising after minor trauma or even in the absence of injury (spontaneous bleeding). Anemia can cause pale skin, weakness, and fatigue. Severe anemia may create a need for frequent blood transfusions to replenish the supply of red blood cells; however, repeated blood transfusions over many years can cause health problems such as excess iron in the blood. People with dyserythropoietic anemia and thrombocytopenia may also have a shortage of white blood cells (neutropenia), which can make them prone to recurrent infections. Additionally, they may have an enlarged spleen (splenomegaly). The severity of these abnormalities varies among affected individuals. Some people with dyserythropoietic anemia and thrombocytopenia have additional blood disorders such as beta thalassemia or congenital erythropoietic porphyria. Beta thalassemia is a condition that reduces the production of hemoglobin, which is the iron-containing protein in red blood cells that carries oxygen. A decrease in hemoglobin can lead to a shortage of oxygen in cells and tissues throughout the body. Congenital erythropoietic porphyria is another disorder that impairs hemoglobin production. People with congenital erythropoietic porphyria are also very sensitive to sunlight, and areas of skin exposed to the sun can become fragile and blistered.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Pediatric Crohn's disease ?"}, {"role": "assistant", "content": "Crohn's disease is a type of inflammatory bowel disease (IBD), the general name for conditions that cause inflammation in the gastrointestinal (GI) tract. Common signs and symptoms include abdominal pain and cramping, diarrhea, and weight loss. Other general symptoms include feeling tired, nausea and loss of appetite, fever, and anemia. Complications of Crohn's disease may include intestinal blockage, fistulas, anal fissures, ulcers, malnutrition, and inflammation in other areas of the body. Crohn's disease can occur in people of all age groups but is most often diagnosed in young adults. The exact cause is unknown, but is thought to involve both genetic and environmental factors. It appears to run in some families. Treatment is aimed at relieving symptoms and reducing inflammation, but some people require surgery.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by iron-refractory iron deficiency anemia ?"}, {"role": "assistant", "content": "Although iron deficiency anemia is relatively common, the prevalence of the iron-refractory form of the disease is unknown. At least 50 cases have been described in the medical literature. Researchers suspect that iron-refractory iron deficiency anemia is underdiagnosed because affected individuals with very mild symptoms may never come to medical attention.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the complications of Perineal Injury in Males ?"}, {"role": "assistant", "content": "Injury to the blood vessels, nerves, and muscles in the perineum can lead to complications such as\n \n- bladder control problems - sexual problems\n \nBladder control problems. The nerves in the perineum carry signals from the bladder to the spinal cord and brain, telling the brain when the bladder is full. Those same nerves carry signals from the brain to the bladder and pelvic floor muscles, directing those muscles to hold or release urine. Injury to those nerves can block or interfere with the signals, causing the bladder to squeeze at the wrong time or not to squeeze at all. Damage to the pelvic floor muscles can cause bladder and bowel control problems.\n \nSexual problems. The perineal nerves also carry signals between the genitals and the brain. Injury to those nerves can interfere with the sensations of sexual contact.\n \nSignals from the brain direct the smooth muscles in the genitals to relax, causing greater blood flow into the penis. In men, damaged blood vessels can cause erectile dysfunction (ED), the inability to achieve or maintain an erection firm enough for sexual intercourse. An internal portion of the penis runs through the perineum and contains a section of the urethra. As a result, damage to the perineum may also injure the penis and urethra.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Chronic Fatigue Syndrome (CFS) ?"}, {"role": "assistant", "content": "Chronic fatigue syndrome, or CFS, is a devastating and complex disorder. People with CFS have overwhelming fatigue and a host of other symptoms that are not improved by bed rest and that can get worse after physical activity or mental exertion. They often function at a substantially lower level of activity than they were capable of before they became ill.\n \nBesides severe fatigue, other symptoms include muscle pain, impaired memory or mental concentration, insomnia, and post-exertion malaise lasting more than 24 hours. In some cases, CFS can persist for years.\n \nResearchers have not yet identified what causes CFS, and there are no tests to diagnose CFS. Moreover, because many illnesses have fatigue as a symptom, doctors need to take care to rule out other conditions, which may be treatable.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Congenital primary aphakia ?"}, {"role": "assistant", "content": "Congenital primary aphakia (CPA) is a rare eye condition that is present at birth in which the lens is missing. In some cases, CPA can be associated with other eye abnormalities including microphthalmia, absence of the iris, anterior segment aplasia, and/or sclerocornea (when the cornea blends with the sclera). This condition is thought to result from an abnormality during the 4th or 5th week of fetal development, which prevents the formation of any lens structure in the eye. Mutations in the FOXE3 gene have been associated with this condition. CPA is thought to be inherited in an autosomal recessive fashion. Click here to view a diagram of the eye.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Baller-Gerold syndrome inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Schnitzler syndrome ?"}, {"role": "assistant", "content": "What causes Schnitzler syndrome? The exact underlying cause of Schnitzler syndrome is currently unknown. People affected by this condition often have a blood abnormality called monoclonal gammopathy, a condition in which the body over-produces certain immunoglobulins (typically immunoglobulin M). Immunoglobulins are proteins that are made by certain white blood cells. They play a role in the immune response by helping destroy bacteria, viruses, and other substances that appear foreign and harmful. Some researchers believe that the abnormal accumulation of immunoglobulins in the skin and other parts of the body may play a role in the development of the signs and symptoms of Schnitzler syndrome. Other scientists speculate that alterations in cytokines may play a role in the development of Schnitzler syndrome. Cytokines are specialized proteins that play an important role in the immune response. They are secreted by certain immune system cells and play a vital role in controlling the growth and activity of other immune system cells. Abnormal findings involving a specific cytokine called interleukin-1 have been found in some people with Schnitzler syndrome.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Alopecia macular degeneration growth retardation ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Alopecia macular degeneration growth retardation? The Human Phenotype Ontology provides the following list of signs and symptoms for Alopecia macular degeneration growth retardation. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair quantity 90% Abnormality of retinal pigmentation 90% Abnormality of the macula 90% Retinopathy 90% Split hand 90% Aplasia/Hypoplasia of the eyebrow 50% Carious teeth 50% Finger syndactyly 50% Microdontia 50% Reduced number of teeth 50% Strabismus 7.5% Autosomal recessive inheritance - Camptodactyly - Ectodermal dysplasia - Joint contracture of the hand - Macular dystrophy - Selective tooth agenesis - Sparse eyebrow - Sparse eyelashes - Sparse scalp hair - Syndactyly - Widely spaced teeth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is monilethrix inherited ?"}, {"role": "assistant", "content": "Monilethrix can have multiple patterns of inheritance. When the condition is caused by a mutation in one of the keratin genes, it is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In rare cases, the condition results from a new mutation in the gene and is not inherited. When the condition is caused by mutations in the DSG4 gene, it is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for cytochrome P450 oxidoreductase deficiency ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of cytochrome P450 oxidoreductase deficiency: - Gene Review: Gene Review: Cytochrome P450 Oxidoreductase Deficiency - Genetic Testing Registry: Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis - MedlinePlus Encyclopedia: Ambiguous Genitalia - MedlinePlus Encyclopedia: Craniosynostosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "what research (or clinical trials) is being done for Myotonia Congenita ?"}, {"role": "assistant", "content": "The National Institute of Neurological Disorders and Stroke (NINDS) conducts research related to myotonia congenita and also supports additional research through grants to major research institutions across the country. Current research is exploring how, at the molecular level, the defective gene in myotonia congenita causes the specific symptoms of the disorder. Additional research is focused on developing animal models of the disorder to test potential treatments and therapies.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by GLUT1 deficiency syndrome ?"}, {"role": "assistant", "content": "GLUT1 deficiency syndrome is a rare disorder. Approximately 500 cases have been reported worldwide since the disorder was first identified in 1991. In Australia, the prevalence of the disorder has been estimated at 1 in 90,000 people. However, researchers suggest that the disorder may be underdiagnosed, because many neurological disorders can cause similar symptoms.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Carnosinemia ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Carnosinemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Carnosinemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aminoaciduria 90% Cognitive impairment 90% Developmental regression 90% EEG abnormality 90% Seizures 90% Autosomal recessive inheritance - Carnosinuria - Generalized myoclonic seizures - Intellectual disability - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Earthquakes ?"}, {"role": "assistant", "content": "An earthquake happens when two blocks of the earth suddenly slip past one another. Earthquakes strike suddenly, violently, and without warning at any time of the day or night. If an earthquake occurs in a populated area, it may cause property damage, injuries, and even deaths. If you live in a coastal area, there is the possibility of a tsunami. Damage from earthquakes can also lead to floods or fires. Although there are no guarantees of safety during an earthquake, you can take actions to protect yourself. You should have a disaster plan. Being prepared can help reduce fear, anxiety, and losses. If you do experience a disaster, it is normal to feel stressed. You may need help in finding ways to cope. Federal Emergency Management Agency", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for hereditary fructose intolerance ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of hereditary fructose intolerance: - Boston University: Specifics of Hereditary Fructose Intolerance and Its Diagnosis - Gene Review: Gene Review: Hereditary Fructose Intolerance - Genetic Testing Registry: Hereditary fructosuria - MedlinePlus Encyclopedia: Hereditary Fructose Intolerance These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Loeys-Dietz syndrome type 4 ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Loeys-Dietz syndrome type 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Loeys-Dietz syndrome type 4. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Bicuspid aortic valve 5% Emphysema 5% Hypertelorism 5% Pneumothorax 5% Spondylolisthesis 5% Talipes equinovarus 5% Abnormality of the sternum - Aortic dissection - Arachnodactyly - Arterial tortuosity - Autosomal dominant inheritance - Bruising susceptibility - Dural ectasia - High palate - Inguinal hernia - Joint hyperflexibility - Mitral valve prolapse - Pes planus - Retrognathia - Scoliosis - Tall stature - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Syndrome of inappropriate antidiuretic hormone ?"}, {"role": "assistant", "content": "How might the syndrome of inappropriate antidiuretic hormone be treated? Treatment of syndrome of inappropriate antidiuretic hormone (SIADH) may involve fluid restriction, treatment of the underlying cause once determined, and medication that decreases the effect of antidiuretic hormone on the kidneys.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Precocious puberty ?"}, {"role": "assistant", "content": "What are the long term effects of treatment for precocious puberty? Several studies have looked at the long-term effects of treatment with hormone therapy on children with precocious puberty. Long-term hormone treatment has been found to be safe for the reproductive system and helpful in reaching target adult height levels. Additionally, there is little evidence suggesting that long term hormone treatment is associated with psychological or behavioral problems. More studies are needed to determine this association.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by McCune-Albright syndrome ?"}, {"role": "assistant", "content": "McCune-Albright syndrome occurs in between 1 in 100,000 and 1 in 1,000,000 people worldwide.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Pseudoxanthoma elasticum ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Pseudoxanthoma elasticum? The Human Phenotype Ontology provides the following list of signs and symptoms for Pseudoxanthoma elasticum. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of coagulation 90% Chorioretinal abnormality 90% Retinopathy 90% Skin rash 90% Thickened nuchal skin fold 90% Visual impairment 90% Bruising susceptibility 50% Myopia 50% Striae distensae 50% Abnormality of the endocardium 7.5% Abnormality of the mitral valve 7.5% Abnormality of the palate 7.5% Abnormality of the thorax 7.5% Abnormality of thrombocytes 7.5% Acne 7.5% Aneurysm 7.5% Blue sclerae 7.5% Cerebral calcification 7.5% Chondrocalcinosis 7.5% Coronary artery disease 7.5% Gastrointestinal hemorrhage 7.5% Hemiplegia/hemiparesis 7.5% Hyperextensible skin 7.5% Hypertension 7.5% Hypertrophic cardiomyopathy 7.5% Hypothyroidism 7.5% Intracranial hemorrhage 7.5% Joint hypermobility 7.5% Multiple lipomas 7.5% Nephrocalcinosis 7.5% Pruritus 7.5% Scoliosis 7.5% Sudden cardiac death 7.5% Telangiectasia of the skin 7.5% Renovascular hypertension 5% Abnormality of the mouth - Accelerated atherosclerosis - Angina pectoris - Angioid streaks of the retina - Autosomal recessive inheritance - Congestive heart failure - Hypermelanotic macule - Intermittent claudication - Macular degeneration - Mitral stenosis - Mitral valve prolapse - Reduced visual acuity - Renal insufficiency - Restrictive cardiomyopathy - Retinal hemorrhage - Stroke - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Factor V Leiden thrombophilia ?"}, {"role": "assistant", "content": "What causes factor V Leiden thrombophilia? Factor V Leiden thrombophilia is caused by a specific mutation in the Factor V gene. Factor V plays a critical role in the formation of blood clots in response to injury. Genes are our bodys instructions for making proteins. The factor V gene instructs the body how to make a protein called coagulation factor V. Coagulation factor V is involved in a series of chemical reactions that hold blood clots together. A molecule called activated protein C (APC) prevents blood clots from growing too large by inactivating factor V.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Who is at risk for Cardiogenic Shock? ?"}, {"role": "assistant", "content": "The most common risk factor for cardiogenic shock is having a heart attack. If you've had a heart attack, the following factors can further increase your risk for cardiogenic shock:\n \nOlder age\n \nA history of heart attacks or heart failure\n \nCoronary heart disease that affects all of the hearts major blood vessels\n \nHigh blood pressure\n \nDiabetes\n \nWomen who have heart attacks are at higher risk for cardiogenic shock than men who have heart attacks.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) incontinentia pigmenti ?"}, {"role": "assistant", "content": "Incontinentia pigmenti is a condition that can affect many body systems, particularly the skin. This condition occurs much more often in females than in males. Incontinentia pigmenti is characterized by skin abnormalities that evolve throughout childhood and young adulthood. Many affected infants have a blistering rash at birth and in early infancy, which heals and is followed by the development of wart-like skin growths. In early childhood, the skin develops grey or brown patches (hyperpigmentation) that occur in a swirled pattern. These patches fade with time, and adults with incontinentia pigmenti usually have lines of unusually light-colored skin (hypopigmentation) on their arms and legs. Other signs and symptoms of incontinentia pigmenti can include hair loss (alopecia) affecting the scalp and other parts of the body, dental abnormalities (such as small teeth or few teeth), eye abnormalities that can lead to vision loss, and lined or pitted fingernails and toenails. Most people with incontinentia pigmenti have normal intelligence; however, this condition may affect the brain. Associated problems can include delayed development or intellectual disability, seizures, and other neurological problems.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to Northern epilepsy ?"}, {"role": "assistant", "content": "Mutations in the CLN8 gene cause Northern epilepsy. The CLN8 gene provides instructions for making a protein whose function is not well understood. The CLN8 protein is thought to play a role in transporting materials in and out of a cell structure called the endoplasmic reticulum. The endoplasmic reticulum is involved in protein production, processing, and transport. Based on the structure of the CLN8 protein, it may also help regulate the levels of fats (lipids) in cells. A single CLN8 gene mutation has been identified to cause Northern epilepsy. Nearly all affected individuals have this mutation in both copies of the CLN8 gene in each cell. The effects of this mutation on protein function are unclear. Unlike other forms of NCL that result in the accumulation of large amounts of fatty substances called lipopigments in cells, contributing to cell death, Northern epilepsy is associated with very little lipopigment buildup. People with Northern epilepsy do have mild brain abnormalities resulting from cell death, but the cause of this brain cell death is unknown. It is also unclear how changes in the CLN8 protein and a loss of brain cells cause the neurological problems associated with Northern epilepsy.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Dentures ?"}, {"role": "assistant", "content": "Dentures are false teeth made to replace teeth you have lost. Dentures can be complete or partial. Complete dentures cover your entire upper or lower jaw. Partials replace one or a few teeth. Advances in dentistry have made many improvements in dentures. They are more natural looking and comfortable than they used to be. But they still may feel strange at first. In the beginning, your dentist may want to see you often to make sure the dentures fit. Over time, your mouth will change and your dentures may need to be adjusted or replaced. Be sure to let your dentist handle these adjustments. Speaking and eating may feel different with dentures. Be careful when wearing dentures because they may make it harder for you to feel hot foods and liquids. Also, you may not notice biting on a bone from your food. NIH: National Institute on Aging", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is the outlook for Gestational Trophoblastic Disease ?"}, {"role": "assistant", "content": "Certain factors affect prognosis (chance of recovery) and treatment options. Gestational trophoblastic disease usually can be cured. Treatment and prognosis depend on the following: - The type of GTD. - Whether the tumor has spread to the uterus, lymph nodes, or distant parts of the body. - The number of tumors and where they are in the body. - The size of the largest tumor. - The level of -hCG in the blood. - How soon the tumor was diagnosed after the pregnancy began. - Whether GTD occurred after a molar pregnancy, miscarriage, or normal pregnancy. - Previous treatment for gestational trophoblastic neoplasia. Treatment options also depend on whether the woman wishes to become pregnant in the future.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Arachnoiditis ?"}, {"role": "assistant", "content": "Arachnoiditis remains a difficult condition to treat, and long-term outcomes are unpredictable. Most treatments for arachnoiditis are focused on pain relief and the improvement of symptoms that impair daily function. A regimen of pain management, physiotheraphy, exercise, and psychotheraphy is often recommended. Surgical intervention is controversial since the outcomes are generally poor and provide only short-term relief.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for campomelic dysplasia ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of campomelic dysplasia: - European Skeletal Dysplasia Network - Gene Review: Gene Review: Campomelic Dysplasia - Genetic Testing Registry: Camptomelic dysplasia - MedlinePlus Encyclopedia: Ambiguous Genitalia - MedlinePlus Encyclopedia: Pierre-Robin Syndrome - The Hospital for Sick Children These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) pyruvate dehydrogenase deficiency ?"}, {"role": "assistant", "content": "Pyruvate dehydrogenase deficiency is characterized by the buildup of a chemical called lactic acid in the body and a variety of neurological problems. Signs and symptoms of this condition usually first appear shortly after birth, and they can vary widely among affected individuals. The most common feature is a potentially life-threatening buildup of lactic acid (lactic acidosis), which can cause nausea, vomiting, severe breathing problems, and an abnormal heartbeat. People with pyruvate dehydrogenase deficiency usually have neurological problems as well. Most have delayed development of mental abilities and motor skills such as sitting and walking. Other neurological problems can include intellectual disability, seizures, weak muscle tone (hypotonia), poor coordination, and difficulty walking. Some affected individuals have abnormal brain structures, such as underdevelopment of the tissue connecting the left and right halves of the brain (corpus callosum), wasting away (atrophy) of the exterior part of the brain known as the cerebral cortex, or patches of damaged tissue (lesions) on some parts of the brain. Because of the severe health effects, many individuals with pyruvate dehydrogenase deficiency do not survive past childhood, although some may live into adolescence or adulthood.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Usher syndrome, type 1E inherited ?"}, {"role": "assistant", "content": "How is Usher syndrome inherited? Usher syndrome is inherited in an autosomal recessive manner. This means that a person must have a change (mutation) in both copies of the disease-causing gene in each cell to have Usher syndrome. One mutated copy is typically inherited from each parent, who are each referred to as a carrier. Carriers of an autosomal recessive condition usually do not have any signs or symptoms. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) chance to have the condition, a 50% (1 in 2) chance to be an unaffected carrier like each parent, and a 25% chance to not be a carrier and not be affected.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for mannose-binding lectin deficiency ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of mannose-binding lectin deficiency: - Genetic Testing Registry: Mannose-binding protein deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is the outlook for Developmental Dyspraxia ?"}, {"role": "assistant", "content": "Developmental dyspraxia is a lifelong disorder. Many individuals are able to compensate for their disabilities through occupational and speech therapy.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis? The Human Phenotype Ontology provides the following list of signs and symptoms for Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cataract 5% Adult onset - Areflexia - Atrophy/Degeneration involving the spinal cord - Autosomal recessive inheritance - Cognitive impairment - Decreased activity of cytochrome C oxidase in muscle tissue - Depression - Dilated cardiomyopathy - Dysarthria - Gastroparesis - Hyporeflexia - Impaired distal proprioception - Impaired distal vibration sensation - Increased serum lactate - Increased variability in muscle fiber diameter - Intestinal pseudo-obstruction - Migraine - Mildly elevated creatine phosphokinase - Multiple mitochondrial DNA deletions - Muscle fiber necrosis - Myoclonus - Nystagmus - Phenotypic variability - Positive Romberg sign - Progressive external ophthalmoplegia - Progressive gait ataxia - Proximal muscle weakness - Ptosis - Ragged-red muscle fibers - Seizures - Sensorineural hearing impairment - Sensory ataxic neuropathy - Sensory axonal neuropathy - Subsarcolemmal accumulations of abnormally shaped mitochondria - Vestibular dysfunction - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for juvenile idiopathic arthritis ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of juvenile idiopathic arthritis: - American College of Rheumatology: Arthritis in Children - Genetic Testing Registry: Rheumatoid arthritis, systemic juvenile These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Brachydactyly type A1 ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Brachydactyly type A1? The Human Phenotype Ontology provides the following list of signs and symptoms for Brachydactyly type A1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia of the thumb 90% Brachydactyly syndrome 90% Short hallux 90% Short stature 90% Cone-shaped epiphysis 50% Abnormality of the metacarpal bones 7.5% Abnormality of the ulna 7.5% Clinodactyly of the 5th finger 7.5% Scoliosis 7.5% Symphalangism affecting the phalanges of the hand 7.5% Talipes 7.5% Absent distal interphalangeal creases - Autosomal dominant inheritance - Broad metacarpal epiphyses - Broad palm - Distal symphalangism (hands) - Flattened metatarsal heads - Heterogeneous - Proportionate shortening of all digits - Radial deviation of the 2nd finger - Radial deviation of the 3rd finger - Radial deviation of the 4th finger - Short distal phalanx of finger - Short metacarpal - Short palm - Short proximal phalanx of hallux - Short proximal phalanx of thumb - Slender metacarpals - Thin proximal phalanges with broad epiphyses of the hand - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Myhre syndrome ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of Myhre syndrome: - Centers for Disease Control and Prevention: Types of Hearing Loss - Genetic Testing Registry: Myhre syndrome - National Institute on Deafness and Other Communication Disorders: Communication Considerations for Parents of Deaf and Hard-of-Hearing Children These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Lujo Hemorrhagic Fever (LUHF) ?"}, {"role": "assistant", "content": "The symptoms of Lujo hemorrhagic fever, as described in the five patients in the original cluster outbreak, resemble those of severe Lassa Fever. After an incubation period of 7 to 13 days, the clinical course started by a non-specific febrile illness accompanied by headache and muscle pain. \n \nThe disease increases in severity, with: \n \n - a morbilliform rash of the face and trunk \n - face and neck swelling \n - pharyngitis (sore throat) \n - diarrhea \n \n \nBleeding was not a prominent feature during the illness. \n \nIn the fatal cases (4/5 patients), a transient improvement was followed by: \n \n - rapid deterioration with respiratory distress \n - neurological signs and circulatory collapse \n \n \nDeath occurred 10 to 13 days after onset. \n \nLow blood platelets, low white blood cell count (at the onset, rising later on) and elevated liver function values were present in all patients. \n \nSince Arenaviruses may enter the fetus through infection of the mother, and anectodal evidence suggests that infected pregnant women may suffer miscarriages, it is reasonable to assume that both infection of the fetus and miscarriage may be associated with Lujo infection in the mother.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to Winchester syndrome ?"}, {"role": "assistant", "content": "Winchester syndrome is caused by mutations in the MMP14 gene (also known as MT1-MMP). This gene provides instructions for making a protein called matrix metallopeptidase 14, which is found on the surface of cells. Matrix metallopeptidase 14 normally helps modify and break down various components of the extracellular matrix, which is the intricate lattice of proteins and other molecules that forms in the spaces between cells. These changes influence many cell activities and functions, including promoting cell growth and stimulating cell movement (migration). Matrix metallopeptidase 14 also turns on (activates) a protein called matrix metallopeptidase 2. The activity of matrix metallopeptidase 2 appears to be important for a variety of body functions, including bone remodeling, which is a normal process in which old bone is broken down and new bone is created to replace it. Mutations in the MMP14 gene alter matrix metallopeptidase 14 so that less of the enzyme is able to reach the cell surface. As a result, not enough of the enzyme is available to break down components of the extracellular matrix and activate matrix metallopeptidase 2. It is unclear how a shortage of this enzyme leads to the signs and symptoms of Winchester syndrome. It is possible that a loss of matrix metallopeptidase 2 activation somehow disrupts the balance of new bone creation and the breakdown of existing bone during bone remodeling, causing a progressive loss of bone tissue. How a reduced amount of matrix metallopeptidase 14 leads to the other features of Winchester syndrome is unknown.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Microcephaly ?"}, {"role": "assistant", "content": "There is no treatment for microcephaly that can return a childs head to a normal size or shape. Treatment focuses on ways to decrease the impact of the associated deformities and neurological disabilities. Children with microcephaly and developmental delays are usually evaluated by a pediatric neurologist and followed by a medical management team. Early childhood intervention programs that involve physical, speech, and occupational therapists help to maximize abilities and minimize dysfunction. Medications are often used to control seizures, hyperactivity, and neuromuscular symptoms. Genetic counseling may help families understand the risk for microcephaly in subsequent pregnancies.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by surfactant dysfunction ?"}, {"role": "assistant", "content": "One type of surfactant dysfunction, SP-B deficiency, is estimated to occur in 1 in 1 million newborns worldwide. The prevalence of surfactant dysfunction due to other causes is unknown.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Meckel syndrome ?"}, {"role": "assistant", "content": "Meckel syndrome is a disorder with severe signs and symptoms that affect many parts of the body. The most common features are enlarged kidneys with numerous fluid-filled cysts; an occipital encephalocele, which is a sac-like protrusion of the brain through an opening at the back of the skull; and the presence of extra fingers and toes (polydactyly). Most affected individuals also have a buildup of scar tissue (fibrosis) in the liver. Other signs and symptoms of Meckel syndrome vary widely among affected individuals. Numerous abnormalities of the brain and spinal cord (central nervous system) have been reported in people with Meckel syndrome, including a group of birth defects known as neural tube defects. These defects occur when a structure called the neural tube, a layer of cells that ultimately develops into the brain and spinal cord, fails to close completely during the first few weeks of embryonic development. Meckel syndrome can also cause problems with development of the eyes and other facial features, heart, bones, urinary system, and genitalia. Because of their serious health problems, most individuals with Meckel syndrome die before or shortly after birth. Most often, affected infants die of respiratory problems or kidney failure.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Complete androgen insensitivity syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Complete androgen insensitivity syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Complete androgen insensitivity syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair quantity 90% Cryptorchidism 90% Decreased fertility 90% Male pseudohermaphroditism 90% Primary amenorrhea 90% Tall stature 90% Hernia of the abdominal wall 50% Reduced bone mineral density 50% Flexion contracture 7.5% Gynecomastia 7.5% Testicular neoplasm 7.5% Tremor 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) What I need to know about Diarrhea ?"}, {"role": "assistant", "content": "Diarrhea is frequent, loose, and watery bowel movements. Bowel movements, also called stools, are body wastes passed through the rectum and anus. Stools contain what is left after your digestive system absorbs nutrients and fluids from what you eat and drink. If your body does not absorb the fluids, or if your digestive system produces extra fluids, stools will be loose and watery. Loose stools contain more water, salts, and minerals and weigh more than solid stools.\n \nDiarrhea that lasts a short time is called acute diarrhea. Acute diarrhea is a common problem and usually lasts only 1 or 2 days, but it may last longer. Diarrhea that lasts for at least 4 weeks is called chronic diarrhea. Chronic diarrhea symptoms may be continual or they may come and go.\n \n*See the Pronunciation Guide for tips on how to say the words in bold type.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Metabolic Syndrome ?"}, {"role": "assistant", "content": "Your doctor will diagnose metabolic syndrome based on the results of a physical exam and blood tests. You must have at least three of the five metabolic risk factors to be diagnosed with metabolic syndrome.\n \nMetabolic Risk Factors\n \nA Large Waistline\n \nHaving a large waistline means that you carry excess weight around your waist (abdominal obesity). This is also called having an \"apple-shaped\" figure. Your doctor will measure your waist to find out whether you have a large waistline.\n \nA waist measurement of 35 inches or more for women or 40 inches or more for men is a metabolic risk factor. A large waistline means you're at increased risk for heart disease and other health problems.\n \nA High Triglyceride Level\n \nTriglycerides are a type of fat found in the blood. A triglyceride level of 150 mg/dL or higher (or being on medicine to treat high triglycerides) is a metabolic risk factor. (The mg/dL is milligrams per deciliterthe units used to measure triglycerides, cholesterol, and blood sugar.)\n \nA Low HDL Cholesterol Level\n \nHDL cholesterol sometimes is called \"good\" cholesterol. This is because it helps remove cholesterol from your arteries.\n \nAn HDL cholesterol level of less than 50 mg/dL for women and less than 40 mg/dL for men (or being on medicine to treat low HDL cholesterol) is a metabolic risk factor.\n \nHigh Blood Pressure\n \nA blood pressure of 130/85 mmHg or higher (or being on medicine to treat high blood pressure) is a metabolic risk factor. (The mmHg is millimeters of mercurythe units used to measure blood pressure.)\n \nIf only one of your two blood pressure numbers is high, you're still at risk for metabolic syndrome.\n \nHigh Fasting Blood Sugar\n \nA normal fasting blood sugar level is less than 100 mg/dL. A fasting blood sugar level between 100125 mg/dL is considered prediabetes. A fasting blood sugar level of 126 mg/dL or higher is considered diabetes.\n \nA fasting blood sugar level of 100 mg/dL or higher (or being on medicine to treat high blood sugar) is a metabolic risk factor.\n \nAbout 85 percent of people who have type 2 diabetesthe most common type of diabetesalso have metabolic syndrome. These people have a much higher risk for heart disease than the 15 percent of people who have type 2 diabetes without metabolic syndrome.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) familial dysautonomia ?"}, {"role": "assistant", "content": "Familial dysautonomia is a genetic disorder that affects the development and survival of certain nerve cells. The disorder disturbs cells in the autonomic nervous system, which controls involuntary actions such as digestion, breathing, production of tears, and the regulation of blood pressure and body temperature. It also affects the sensory nervous system, which controls activities related to the senses, such as taste and the perception of pain, heat, and cold. Familial dysautonomia is also called hereditary sensory and autonomic neuropathy, type III. Problems related to this disorder first appear during infancy. Early signs and symptoms include poor muscle tone (hypotonia), feeding difficulties, poor growth, lack of tears, frequent lung infections, and difficulty maintaining body temperature. Older infants and young children with familial dysautonomia may hold their breath for prolonged periods of time, which may cause a bluish appearance of the skin or lips (cyanosis) or fainting. This breath-holding behavior usually stops by age 6. Developmental milestones, such as walking and speech, are usually delayed, although some affected individuals show no signs of developmental delay. Additional signs and symptoms in school-age children include bed wetting, episodes of vomiting, reduced sensitivity to temperature changes and pain, poor balance, abnormal curvature of the spine (scoliosis), poor bone quality and increased risk of bone fractures, and kidney and heart problems. Affected individuals also have poor regulation of blood pressure. They may experience a sharp drop in blood pressure upon standing (orthostatic hypotension), which can cause dizziness, blurred vision, or fainting. They can also have episodes of high blood pressure when nervous or excited, or during vomiting incidents. About one-third of children with familial dysautonomia have learning disabilities, such as a short attention span, that require special education classes. By adulthood, affected individuals often have increasing difficulties with balance and walking unaided. Other problems that may appear in adolescence or early adulthood include lung damage due to repeated infections, impaired kidney function, and worsening vision due to the shrinking size (atrophy) of optic nerves, which carry information from the eyes to the brain.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is myoclonic epilepsy myopathy sensory ataxia inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Progressive pseudorheumatoid arthropathy of childhood ?"}, {"role": "assistant", "content": "Progressive pseudorheumatoid arthropathy of childhood (PPAC) is a disorder of bone and cartilage that affects many joints. Major signs and symptoms include stiff joints (contractures), short stature, and widening of the ends of the finger and toe bones as well as other tubular bones. PPAC may initially be mistaken for juvenile rheumatoid arthritis, however people with this condition do not have the laboratory test results of juvenile rheumatoid arthritis. PPAC is caused by a mutation in the WISP3 gene and is inherited in an autosomal recessive pattern. People with PPAC typically need joint replacement surgery at an early age. Other forms of spondyloepiphyseal dysplasia tarda include: X-linked spondyloepiphyseal dysplasia tarda Autosomal dominant spondyloepiphyseal dysplasia tarda Spondyloepiphyseal dysplasia tarda Toledo type", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to Rothmund-Thomson syndrome ?"}, {"role": "assistant", "content": "Mutations in the RECQL4 gene cause about two-thirds of all cases of Rothmund-Thomson syndrome. This gene provides instructions for making one member of a protein family called RecQ helicases. Helicases are enzymes that bind to DNA and temporarily unwind the two spiral strands (double helix) of the DNA molecule. This unwinding is necessary for copying (replicating) DNA in preparation for cell division, and for repairing damaged DNA. The RECQL4 protein helps stabilize genetic information in the body's cells and plays a role in replicating and repairing DNA. RECQL4 mutations lead to the production of an abnormally short, nonfunctional version of the RECQL4 protein or prevent cells from making any of this protein. A shortage of the RECQL4 protein may prevent normal DNA replication and repair, causing widespread damage to a person's genetic information over time. It is unclear how a loss of this protein's activity leads to the specific features of Rothmund-Thomson syndrome. In about one-third of individuals with Rothmund-Thomson syndrome, no mutation in the RECQL4 gene has been found. The cause of the condition in these individuals is unknown; however, researchers suspect that these cases may result from mutations in a gene related to the RECQL4 gene. In some cases, chromosomal abnormalities have been identified in people with Rothmund-Thomson syndrome. These abnormalities include extra or missing genetic material, usually from chromosome 7 or chromosome 8, in some of an affected person's cells. Researchers believe that these chromosomal changes arise because of the overall instability of an affected person's genetic information; they do not cause the disorder.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) breast cancer ?"}, {"role": "assistant", "content": "Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. Although breast cancer is much more common in women, this form of cancer can also develop in men. In both women and men, the most common form of breast cancer begins in cells lining the milk ducts (ductal cancer). In women, cancer can also develop in the glands that produce milk (lobular cancer). Most men have little or no lobular tissue, so lobular cancer in men is very rare. In its early stages, breast cancer usually does not cause pain and may exhibit no noticeable symptoms. As the cancer progresses, signs and symptoms can include a lump or thickening in or near the breast; a change in the size or shape of the breast; nipple discharge, tenderness, or retraction (turning inward); and skin irritation, dimpling, or scaliness. However, these changes can occur as part of many different conditions. Having one or more of these symptoms does not mean that a person definitely has breast cancer. In some cases, cancerous tumors can invade surrounding tissue and spread to other parts of the body. If breast cancer spreads, cancerous cells most often appear in the bones, liver, lungs, or brain. Tumors that begin at one site and then spread to other areas of the body are called metastatic cancers. A small percentage of all breast cancers cluster in families. These cancers are described as hereditary and are associated with inherited gene mutations. Hereditary breast cancers tend to develop earlier in life than noninherited (sporadic) cases, and new (primary) tumors are more likely to develop in both breasts.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Emery-Dreifuss muscular dystrophy ?"}, {"role": "assistant", "content": "Emery-Dreifuss muscular dystrophy is a condition that chiefly affects muscles used for movement (skeletal muscles) and heart (cardiac) muscle. Among the earliest features of this disorder are joint deformities called contractures, which restrict the movement of certain joints. Contractures become noticeable in early childhood and most often involve the elbows, ankles, and neck. Most affected individuals also experience slowly progressive muscle weakness and wasting, beginning in muscles of the upper arms and lower legs and progressing to muscles in the shoulders and hips. Almost all people with Emery-Dreifuss muscular dystrophy have heart problems by adulthood. In many cases, these heart problems stem from abnormalities of the electrical signals that control the heartbeat (cardiac conduction defects) and abnormal heart rhythms (arrhythmias). If untreated, these abnormalities can lead to an unusually slow heartbeat (bradycardia), fainting (syncope), and an increased risk of stroke and sudden death. The types of Emery-Dreifuss muscular dystrophy are distinguished by their pattern of inheritance: X-linked, autosomal dominant, and autosomal recessive. Although the three types have similar signs and symptoms, researchers believe that the features of autosomal dominant Emery-Dreifuss muscular dystrophy are more variable than the other types. A small percentage of people with the autosomal dominant form experience heart problems without any weakness or wasting of skeletal muscles.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is the outlook for Cerebral Arteriosclerosis ?"}, {"role": "assistant", "content": "Cerebral arteriosclerosis can lead to life threatening health events such as ischemic or hemorrhagic strokes. People who survive stroke may have long-term neurological and motor impairments.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Huntington disease-like syndrome inherited ?"}, {"role": "assistant", "content": "HDL1, HDL2, and HDL4 are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. As the mutation responsible for HDL2 or HDL4 is passed down from one generation to the next, the length of the repeated DNA segment may increase. A longer repeat segment is often associated with more severe signs and symptoms that appear earlier in life. This phenomenon is known as anticipation. HDL3 is probably inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they do not show signs and symptoms of the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to prevent Parasites - Fascioliasis (Fasciola Infection) ?"}, {"role": "assistant", "content": "No vaccine is available to protect people against Fasciola infection.\n \nIn some areas of the world where fascioliasis is found (endemic), special control programs are in place or are planned. The types of control measures depend on the setting (such as epidemiologic, ecologic, and cultural factors). Strict control of the growth and sale of watercress and other edible water plants is important.\n \nIndividual people can protect themselves by not eating raw watercress and other water plants, especially from endemic grazing areas. As always, travelers to areas with poor sanitation should avoid food and water that might be contaminated (tainted). Vegetables grown in fields that might have been irrigated with polluted water should be thoroughly cooked, as should viscera from potentially infected animals.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is African iron overload inherited ?"}, {"role": "assistant", "content": "African iron overload seems to run in families, and high iron in a family's diet seems to be the major contributor to development of the condition. There also may be a genetic contribution, but the inheritance pattern is unknown. People with a specific variation in the SLC40A1 gene may inherit an increased risk of this condition, but not the condition itself. Not all people with this condition have the variation in the gene, and not all people with the variation will develop the disorder.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Problems with Smell ?"}, {"role": "assistant", "content": "Our sense of smell helps us enjoy life. We delight in the aromas of our favorite foods or the fragrance of flowers. Our sense of smell also is a warning system, alerting us to danger signals such as a gas leak, spoiled food, or a fire. Any loss in our sense of smell can have a negative effect on our quality of life. It also can be a sign of more serious health problems. Aging and Smell Loss Problems with smell increase as people get older, and they are more common in men than women. In one study, nearly one-quarter of men ages 6069 had a smell disorder, while about 11 percent of women in that age range reported a problem. Many older people are not even aware that they have a problem with their sense of smell because the changes occur gradually over several years. They may not even notice that they are experiencing a loss of smell until there is an incident in which they don't detect food that has spoiled or the presence of dangerous smoke. How Our Sense of Smell Works The sense of smell, or olfaction, is part of our chemical sensing system, along with the sense of taste. Normal smell occurs when odors around us, like the fragrance of flowers or the smell of baking bread, stimulate the specialized sensory cells, called olfactory sensory cells. Olfactory sensory cells are located in a small patch of tissue high inside the nose. Odors reach the olfactory sensory cells in two pathways. The first pathway is by inhaling, or sniffing, through your nose. When people think about smell, they generally think of this pathway. The second pathway is less familiar. It is a channel that connects the roof of the throat region to the nose. When we chew our food, aromas are released that access olfactory sensory cells through this channel. If you are congested due to a head cold or sinus infection, this channel is blocked, which temporarily affects your ability to appreciate the flavors of food. Types of Smell Disorders People who experience smell disorders either have a decrease in their ability to smell or changes in the way they perceive odors. Total smell loss is relatively rare, but a decrease in the sense of smell occurs more often, especially in older adults. A decreased sense of smell may be temporary and treatable with medication. There are several types of smell disorders depending on how the sense of smell is affected. - Some people have hyposmia, which occurs when their ability to detect certain odors is reduced. - Other people can't detect odor at all, which is called anosmia. - Sometimes a loss of smell can be accompanied by a change in the perception of odors. This type of smell disorder is called dysosmia. Familiar odors may become distorted, or an odor that usually smells pleasant instead smells foul. - Still others may perceive a smell that isn't present at all, which is called phantosmia. - Smell loss due to aging is called presbyosmia. Some people have hyposmia, which occurs when their ability to detect certain odors is reduced. Other people can't detect odor at all, which is called anosmia. Sometimes a loss of smell can be accompanied by a change in the perception of odors. This type of smell disorder is called dysosmia. Familiar odors may become distorted, or an odor that usually smells pleasant instead smells foul. Still others may perceive a smell that isn't present at all, which is called phantosmia. Smell loss due to aging is called presbyosmia. Smell Loss May Signal Other Conditions Problems with our chemical senses may be a sign of other serious health conditions. A smell disorder can be an early sign of Parkinsons disease, Alzheimers disease, or multiple sclerosis. It can also be related to other medical conditions, such as obesity, diabetes, hypertension, and malnutrition. Getting a diagnosis early will help an individual deal better with the underlying condition or disease. Smell and Taste Smell and taste are closely linked in the brain, but are actually distinct sensory systems. True tastes are detected by taste buds on the tongue and the roof of the mouth, as well as in the throat region, and are limited to sweet, salty, sour, bitter, savory and perhaps a few other sensations. The loss of smell is much more common than the loss of taste, and many people mistakenly believe they have a problem with taste, when they are really experiencing a problem with their sense of smell. A loss in taste or smell is diagnosed by your doctor using special taste and smell tests. Smell Loss and Eating Habits When smell is impaired, people usually have problems appreciating the subtle flavors of food, and say that food is less enjoyable. Some people change their eating habits. Some may eat too little and lose weight while others may eat too much and gain weight. Either way, there may be a long-term impact on one's overall health. Loss of smell may also cause us to eat too much sugar or salt to make our food taste better. This can be a problem for people with certain medical conditions, such as diabetes or high blood pressure. In severe cases, loss of smell can lead to depression. Hazards of Smell Loss Research shows that people with a total or partial loss of smell are almost twice as likely as people with normal smell to have certain kinds of accidents. The most common types of accidents in order of frequency involve - cooking - eating or drinking spoiled foods or toxic substances - failing to detect gas leaks or fires cooking eating or drinking spoiled foods or toxic substances failing to detect gas leaks or fires If you think you have a problem with your sense of smell, see your doctor.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to phosphoglycerate kinase deficiency ?"}, {"role": "assistant", "content": "Phosphoglycerate kinase deficiency is caused by mutations in the PGK1 gene. This gene provides instructions for making an enzyme called phosphoglycerate kinase, which is involved in a critical energy-producing process in cells known as glycolysis. During glycolysis, the simple sugar glucose is broken down to produce energy. Mutations in the PGK1 gene reduce the activity of phosphoglycerate kinase, which disrupts energy production and leads to cell damage or cell death. It is unclear why this abnormality preferentially affects red blood cells and brain cells in some people and muscle cells in others. Researchers speculate that different PGK1 gene mutations may have varying effects on the activity of phosphoglycerate kinase in different types of cells.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Congenital Heart Defects ?"}, {"role": "assistant", "content": "Many congenital heart defects cause few or no signs and symptoms. A doctor may not even detect signs of a heart defect during a physical exam.\n \nSome heart defects do cause signs and symptoms. They depend on the number, type, and severity of the defects. Severe defects can cause signs and symptoms, usually in newborns. These signs and symptoms may include:\n \nRapid breathing\n \nCyanosis (a bluish tint to the skin, lips, and fingernails)\n \nFatigue (tiredness)\n \nPoor blood circulation\n \nCongenital heart defects don't cause chest pain or other painful symptoms.\n \nHeart defects can cause heart murmurs (extra or unusual sounds heard during a heartbeat). Doctors can hear heart murmurs using a stethoscope. However, not all murmurs are signs of congenital heart defects. Many healthy children have heart murmurs.\n \nNormal growth and development depend on a normal workload for the heart and normal flow of oxygen-rich blood to all parts of the body. Babies who have congenital heart defects may have cyanosis and tire easily while feeding. As a result, they may not gain weight or grow as they should.\n \nOlder children who have congenital heart defects may get tired easily or short of breath during physical activity.\n \nMany types of congenital heart defects cause the heart to work harder than it should. With severe defects, this can lead to heart failure. Heart failure is a condition in which the heart can't pump enough blood to meet the body's needs. Symptoms of heart failure include:\n \nShortness of breath or trouble breathing\n \nFatigue with physical activity\n \nA buildup of blood and fluid in the lungs\n \nSwelling in the ankles, feet, legs, abdomen, and veins in the neck", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for achondrogenesis ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of achondrogenesis: - Gene Review: Gene Review: Achondrogenesis Type 1B - Genetic Testing Registry: Achondrogenesis type 2 - Genetic Testing Registry: Achondrogenesis, type IA - Genetic Testing Registry: Achondrogenesis, type IB - MedlinePlus Encyclopedia: Achondrogenesis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Fukuyama congenital muscular dystrophy ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of Fukuyama congenital muscular dystrophy: - Gene Review: Gene Review: Congenital Muscular Dystrophy Overview - Gene Review: Gene Review: Fukuyama Congenital Muscular Dystrophy - Genetic Testing Registry: Fukuyama congenital muscular dystrophy - MedlinePlus Encyclopedia: Aspiration Pneumonia - MedlinePlus Encyclopedia: Muscular Dystrophy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Trichomoniasis ?"}, {"role": "assistant", "content": "Trichomoniasis is a sexually transmitted disease caused by a parasite. You get it through sexual intercourse with an infected partner. Many people do not have any symptoms. If you do get symptoms, they usually happen within 5 to 28 days after being infected. Symptoms in women include - Yellow-green or gray discharge from the vagina - Discomfort during sex - Vaginal odor - Painful urination - Itching in or near the vagina Most men do not have symptoms. If they do, they may have a whitish discharge from the penis and painful or difficult urination and ejaculation. Lab tests can tell if you have the infection. Treatment is with antibiotics. If you are infected, you and your partner must be treated. Correct usage of latex condoms greatly reduces, but does not eliminate, the risk of catching or spreading trichomoniasis. NIH: National Institute of Allergy and Infectious Diseases", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to pseudohypoaldosteronism type 2 ?"}, {"role": "assistant", "content": "PHA2 can be caused by mutations in the WNK1, WNK4, CUL3, or KLHL3 gene. These genes play a role in the regulation of blood pressure. The proteins produced from the WNK1 and WNK4 genes help control the amount of sodium and potassium in the body by regulating channels in the cell membrane that control the transport of sodium or potassium into and out of cells. This process primarily occurs in the kidneys. Mutations in either of these genes disrupt control of these channels, leading to abnormal levels of sodium and potassium in the body. As a result, affected individuals develop hypertension and hyperkalemia. The proteins produced from the CUL3 gene (called cullin-3) and the KLHL3 gene help control the amount of WNK1 and WNK4 protein available. Cullin-3 and KLHL3 are two pieces of a complex, called an E3 ubiquitin ligase, that tags certain other proteins with molecules called ubiquitin. This molecule acts as a signal for the tagged protein to be broken down when it is no longer needed. E3 ubiquitin ligases containing cullin-3 and KLHL3 are able to tag the WNK1 and WNK4 proteins with ubiquitin, leading to their breakdown. Mutations in either the CUL3 or KLHL3 gene impair breakdown of the WNK4 protein. (The effect of these mutations on the WNK1 protein is unclear.) An excess of WNK4 likely disrupts control of sodium and potassium levels, resulting in hypertension and hyperkalemia.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Cystic Fibrosis ?"}, {"role": "assistant", "content": "Doctors diagnose cystic fibrosis (CF) based on the results from various tests.\n \nNewborn Screening\n \nAll States screen newborns for CF using a genetic test or a blood test. The genetic test shows whether a newborn has faulty CFTR genes. The blood test shows whether a newborn's pancreas is working properly.\n \nSweat Test\n \nIf a genetic test or blood test suggests CF, a doctor will confirm the diagnosis using a sweat test. This test is the most useful test for diagnosing CF. A sweat test measures the amount of salt in sweat.\n \nFor this test, the doctor triggers sweating on a small patch of skin on an arm or leg. He or she rubs the skin with a sweat-producing chemical and then uses an electrode to provide a mild electrical current. This may cause a tingling or warm feeling.\n \nSweat is collected on a pad or paper and then analyzed. The sweat test usually is done twice. High salt levels confirm a diagnosis of CF.\n \nOther Tests\n \nIf you or your child has CF, your doctor may recommend other tests, such as:\n \nGenetic tests to find out what type of CFTR defect is causing your CF.\n \nA chest x ray. This test creates pictures of the structures in your chest, such as your heart, lungs, and blood vessels. A chest x ray can show whether your lungs are inflamed or scarred, or whether they trap air.\n \nA sinus x ray. This test may show signs of sinusitis, a complication of CF.\n \nLung function tests. These tests measure how much air you can breathe in and out, how fast you can breathe air out, and how well your lungs deliver oxygen to your blood.\n \nA sputum culture. For this test, your doctor will take a sample of your sputum (spit) to see whether bacteria are growing in it. If you have bacteria called mucoid Pseudomonas, you may have more advanced CF that needs aggressive treatment.\n \nPrenatal Screening\n \nIf you're pregnant, prenatal genetic tests can show whether your fetus has CF. These tests include amniocentesis (AM-ne-o-sen-TE-sis) and chorionic villus (ko-re-ON-ik VIL-us) sampling (CVS).\n \nIn amniocentesis, your doctor inserts a hollow needle through your abdominal wall into your uterus. He or she removes a small amount of fluid from the sac around the baby. The fluid is tested to see whether both of the baby's CFTR genes are normal.\n \nIn CVS, your doctor threads a thin tube through the vagina and cervix to the placenta. The doctor removes a tissue sample from the placenta using gentle suction. The sample is tested to see whether the baby has CF.\n \nCystic Fibrosis Carrier Testing\n \nPeople who have one normal CFTR gene and one faulty CFTR gene are CF carriers. CF carriers usually have no symptoms of CF and live normal lives. However, carriers can pass faulty CFTR genes on to their children.\n \nIf you have a family history of CF or a partner who has CF (or a family history of it) and you're planning a pregnancy, you may want to find out whether you're a CF carrier.\n \nA genetics counselor can test a blood or saliva sample to find out whether you have a faulty CF gene. This type of testing can detect faulty CF genes in 9 out of 10 cases.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by phenylketonuria ?"}, {"role": "assistant", "content": "The occurrence of PKU varies among ethnic groups and geographic regions worldwide. In the United States, PKU occurs in 1 in 10,000 to 15,000 newborns. Most cases of PKU are detected shortly after birth by newborn screening, and treatment is started promptly. As a result, the severe signs and symptoms of classic PKU are rarely seen.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is the outlook for Corticobasal Degeneration ?"}, {"role": "assistant", "content": "Corticobasal degeneration usually progresses slowly over the course of 6 to 8 years. Death is generally caused by pneumonia or other complications of severe debility such as sepsis or pulmonary embolism.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Toe Injuries and Disorders ?"}, {"role": "assistant", "content": "Fourteen of the 26 bones in your feet are in your toes. The toes, particularly your big toe, help you move and keep your balance. Playing sports, running, and receiving a blow to the foot can damage your toes. Wearing shoes that are too loose or too tight can also cause toe problems. Certain diseases, such as severe arthritis, can cause toe problems and pain. Gout often causes pain in the big toe. Common toe problems include - Corns and bunions - Ingrown toenails - Toe joint sprains and dislocations - Fractured toe bones Treatments for toe injuries and disorders vary. They might include shoe inserts or special shoes, padding, taping, medicines, rest, and in severe cases, surgery.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Collapsed Lung ?"}, {"role": "assistant", "content": "A collapsed lung happens when air enters the pleural space, the area between the lung and the chest wall. If it is a total collapse, it is called pneumothorax. If only part of the lung is affected, it is called atelectasis. Causes of a collapsed lung include - Lung diseases such as pneumonia or lung cancer - Being on a breathing machine - Surgery on the chest or abdomen - A blocked airway If only a small area of the lung is affected, you may not have symptoms. If a large area is affected, you may feel short of breath and have a rapid heart rate. A chest x-ray can tell if you have it. Treatment depends on the underlying cause. NIH: National Heart, Lung, and Blood Institute", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Charcot-Marie-Tooth disease type 2K ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Charcot-Marie-Tooth disease type 2K? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 2K. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Areflexia - Autosomal dominant inheritance - Autosomal recessive inheritance - Axonal regeneration - Decreased motor nerve conduction velocity - Decreased number of peripheral myelinated nerve fibers - Distal amyotrophy - Distal muscle weakness - Distal sensory impairment - Infantile onset - Kyphoscoliosis - Proximal muscle weakness - Split hand - Talipes equinovarus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Diabetes insipidus nephrogenic mental retardation and intracerebral calcification ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Diabetes insipidus nephrogenic mental retardation and intracerebral calcification? The Human Phenotype Ontology provides the following list of signs and symptoms for Diabetes insipidus nephrogenic mental retardation and intracerebral calcification. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis 90% Abnormality of the antihelix 90% Carious teeth 90% Cerebral calcification 90% Cognitive impairment 90% Hypoplasia of the zygomatic bone 90% Increased number of teeth 90% Limitation of joint mobility 90% Short stature 90% Abnormality of the genital system 50% Conductive hearing impairment 50% Nephrogenic diabetes insipidus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for spondyloepiphyseal dysplasia congenita ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of spondyloepiphyseal dysplasia congenita: - Genetic Testing Registry: Spondyloepiphyseal dysplasia congenita - MedlinePlus Encyclopedia: Clubfoot - MedlinePlus Encyclopedia: Lordosis - MedlinePlus Encyclopedia: Retinal Detachment - MedlinePlus Encyclopedia: Scoliosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by Baraitser-Winter syndrome ?"}, {"role": "assistant", "content": "Baraitser-Winter syndrome is a rare condition. Fewer than 50 cases have been reported in the medical literature.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Raine syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Raine syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Raine syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anteverted nares 90% Depressed nasal ridge 90% Enlarged thorax 90% Exaggerated cupid's bow 90% Increased bone mineral density 90% Low-set, posteriorly rotated ears 90% Microcephaly 90% Short neck 90% Gingival overgrowth 50% Intrauterine growth retardation 50% Proptosis 50% Respiratory insufficiency 50% Short nose 50% Mixed hearing impairment 7.5% Natal tooth 7.5% Bowing of the long bones 5% Brachydactyly syndrome 5% Highly arched eyebrow 5% Hydrocephalus 5% Hydronephrosis 5% Hypoplasia of dental enamel 5% Long hallux 5% Mandibular prognathia 5% Microdontia 5% Micromelia 5% Pectus excavatum 5% Plagiocephaly 5% Protruding ear 5% Wide mouth 5% Autosomal recessive inheritance - Brachyturricephaly - Cerebral calcification - Choanal atresia - Choanal stenosis - Cleft palate - Depressed nasal bridge - Elevated alkaline phosphatase - High palate - Hypertelorism - Hypophosphatemia - Hypoplasia of midface - Large fontanelles - Malar flattening - Narrow mouth - Neonatal death - Protruding tongue - Pulmonary hypoplasia - Short stature - Thoracic hypoplasia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Chronic Pain ?"}, {"role": "assistant", "content": "While acute pain is a normal sensation triggered in the nervous system to alert you to possible injury and the need to take care of yourself, chronic pain is different. Chronic pain persists. Pain signals keep firing in the nervous system for weeks, months, even years. There may have been an initial mishap -- sprained back, serious infection, or there may be an ongoing cause of pain -- arthritis, cancer, ear infection, but some people suffer chronic pain in the absence of any past injury or evidence of body damage. Many chronic pain conditions affect older adults. Common chronic pain complaints include headache, low back pain, cancer pain, arthritis pain, neurogenic pain (pain resulting from damage to the peripheral nerves or to the central nervous system itself), psychogenic pain (pain not due to past disease or injury or any visible sign of damage inside or outside the nervous system). A person may have two or more co-existing chronic pain conditions. Such conditions can include chronic fatigue syndrome, endometriosis, fibromyalgia, inflammatory bowel disease, interstitial cystitis, temporomandibular joint dysfunction, and vulvodynia. It is not known whether these disorders share a common cause.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Canavan disease ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of Canavan disease: - Gene Review: Gene Review: Canavan Disease - Genetic Testing Registry: Canavan disease, mild - Genetic Testing Registry: Spongy degeneration of central nervous system - MedlinePlus Encyclopedia: Canavan Disease These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Leber hereditary optic neuropathy inherited ?"}, {"role": "assistant", "content": "How is Leber hereditary optic neuropathy (LHON) inherited? Leber hereditary optic neuropathy is an inherited condition that has a mitochondrial pattern of inheritance. The gene mutations that cause this condition are found in the mitochondrial DNA. Mitochondria are inherited from a person's mother, and as a result, only females pass mitochondrial conditions on to their children. Men can be affected, but they cannot pass the condition on to their children. Often, people who develop the features of Leber hereditary optic neuropathy have no family history of the condition. Because a person may carry a mitochondrial DNA mutation without experiencing any signs or symptoms, it is hard to predict which members of a family who carry a mutation will eventually develop vision loss or other medical problems associated with Leber hereditary optic neuropathy. It is important to note that all females with a mitochondrial DNA mutation, even those who do not have any signs or symptoms, will pass the genetic change to their children.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Opsismodysplasia ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Opsismodysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Opsismodysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal form of the vertebral bodies 90% Abnormal vertebral ossification 90% Abnormality of epiphysis morphology 90% Abnormality of pelvic girdle bone morphology 90% Abnormality of the fontanelles or cranial sutures 90% Abnormality of the metaphyses 90% Brachydactyly syndrome 90% Delayed skeletal maturation 90% Depressed nasal bridge 90% Frontal bossing 90% Limb undergrowth 90% Macrocephaly 90% Respiratory insufficiency 90% Short nose 90% Tapered finger 90% Muscular hypotonia 50% Recurrent respiratory infections 50% Abnormality of thumb phalanx 7.5% Blue sclerae 7.5% Hepatomegaly 7.5% Limitation of joint mobility 7.5% Narrow chest 7.5% Pectus excavatum 7.5% Splenomegaly 7.5% Hypophosphatemia 5% Renal phosphate wasting 5% Anterior rib cupping - Anteverted nares - Autosomal recessive inheritance - Bell-shaped thorax - Disproportionate short-limb short stature - Edema - Flat acetabular roof - Hypertelorism - Hypoplastic ischia - Hypoplastic pubic bone - Hypoplastic vertebral bodies - Large fontanelles - Long philtrum - Metaphyseal cupping - Polyhydramnios - Posterior rib cupping - Protuberant abdomen - Rhizomelia - Severe platyspondyly - Short foot - Short long bone - Short neck - Short palm - Squared iliac bones - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Norrie disease ?"}, {"role": "assistant", "content": "Norrie disease is an inherited eye disorder that leads to blindness in male infants at birth or soon after birth. Additional symptoms may occur in some cases, although this varies even among individuals in the same family. Most affected individuals develop sensorineural hearing loss and many exhibit cognitive abnormalities such as developmental delays, behavioral issues, or psychotic-like features. Norrie disease is caused by mutations in the NDP gene. It is inherited in an X-linked recessive pattern. Treatment is directed toward the specific symptoms present in each individual. The coordinated efforts of a team of specialists, including pediatricians, ophthalmologists, and audiologists may be needed. Early intervention and special education services are important to ensure that children with Norrie disease reach their full potential.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of ARDS ?"}, {"role": "assistant", "content": "The first signs and symptoms of ARDS are feeling like you can't get enough air into your lungs, rapid breathing, and a low blood oxygen level.\n \nOther signs and symptoms depend on the cause of ARDS. They may occur before ARDS develops. For example, if pneumonia is causing ARDS, you may have a cough and fever before you feel short of breath.\n \nSometimes people who have ARDS develop signs and symptoms such as low blood pressure, confusion, and extreme tiredness. This may mean that the body's organs, such as the kidneys and heart, aren't getting enough oxygen-rich blood.\n \nPeople who develop ARDS often are in the hospital for other serious health problems. Rarely, people who aren't hospitalized have health problems that lead to ARDS, such as severe pneumonia.\n \nIf you have trouble breathing, call your doctor right away. If you have severe shortness of breath, call 911.\n \nComplications From ARDS\n \nIf you have ARDS, you can develop other medical problems while in the hospital. The most common problems are: \n \nInfections. Being in the hospital and lying down for a long time can put you at risk for infections, such as pneumonia. Being on a ventilator also puts you at higher risk for infections.\n \nA pneumothorax (collapsed lung). This is a condition in which air or gas collects in the space around the lungs. This can cause one or both lungs to collapse. The air pressure from a ventilator can cause this condition.\n \nLung scarring. ARDS causes the lungs to become stiff (scarred). It also makes it hard for the lungs to expand and fill with air. Being on a ventilator also can cause lung scarring.\n \nBlood clots. Lying down for long periods can cause blood clots to form in your body. A blood clot that forms in a vein deep in your body is called a deep vein thrombosis. This type of blood clot can break off, travel through the bloodstream to the lungs, and block blood flow. This condition is called pulmonary embolism.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) spinocerebellar ataxia type 1 ?"}, {"role": "assistant", "content": "Spinocerebellar ataxia type 1 (SCA1) is a condition characterized by progressive problems with movement. People with this condition initially experience problems with coordination and balance (ataxia). Other signs and symptoms of SCA1 include speech and swallowing difficulties, muscle stiffness (spasticity), and weakness in the muscles that control eye movement (ophthalmoplegia). Eye muscle weakness leads to rapid, involuntary eye movements (nystagmus). Individuals with SCA1 may have difficulty processing, learning, and remembering information (cognitive impairment). Over time, individuals with SCA1 may develop numbness, tingling, or pain in the arms and legs (sensory neuropathy); uncontrolled muscle tensing (dystonia); muscle wasting (atrophy); and muscle twitches (fasciculations). Rarely, rigidity, tremors, and involuntary jerking movements (chorea) have been reported in people who have been affected for many years. Signs and symptoms of the disorder typically begin in early adulthood but can appear anytime from childhood to late adulthood. People with SCA1 typically survive 10 to 20 years after symptoms first appear.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Multiple endocrine neoplasia type 1 inherited ?"}, {"role": "assistant", "content": "How is multiple endocrine neoplasia, type 1 inherited? Multiple endocrine neoplasia, type 1 (MEN1) is inherited in an autosomal dominant manner. This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene. These cases occur in people with no history of the disorder in their family. A person with MEN1 has a 50% chance with each pregnancy of passing along the altered gene to his or her child.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for autoimmune Addison disease ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of autoimmune Addison disease: - Genetic Testing Registry: Addison's disease - MedlinePlus Encyclopedia: Addison's Disease These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to steatocystoma multiplex ?"}, {"role": "assistant", "content": "Steatocystoma multiplex can be caused by mutations in the KRT17 gene. This gene provides instructions for making a protein called keratin 17, which is produced in the nails, the hair follicles, and the skin on the palms of the hands and soles of the feet. It is also found in the skin's sebaceous glands. Keratin 17 partners with a similar protein called keratin 6b to form networks that provide strength and resilience to the skin, nails, and other tissues. The KRT17 gene mutations that cause steatocystoma multiplex alter the structure of keratin 17, preventing it from forming strong, stable networks within cells. The defective keratin network disrupts the growth and function of cells in the skin and nails, including cells that make up the sebaceous glands. These abnormalities lead to the growth of sebum-containing cysts in people with steatocystoma multiplex. However, it is unclear why steatocystomas are typically the only feature of this disorder. Many researchers believe that steatocystoma multiplex is a variant form of a disorder called pachyonychia congenita, which can also result from mutations in the KRT17 gene. Like steatocystoma multiplex, pachyonychia congenita involves the growth of steatocystomas. Pachyonychia congenita is also associated with more severe skin and nail abnormalities not usually found in people with steatocystoma multiplex. In some cases, people with steatocystoma multiplex do not have an identified mutation in the KRT17 gene. The cause of the condition in these individuals is unknown.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Hereditary sensory neuropathy type IE ?"}, {"role": "assistant", "content": "Hereditary sensory neuropathy type IE (HSNIE) is a progressive disorder of the central and peripheral nervous systems. Symptoms typically begin by age 20 to 35 and include sensory impairment of the lower legs and feet; loss of sweating in the hands and feet; sensorineural hearing loss; and gradual decline of mental ability (dementia). The severity of symptoms and age of onset vary, even within the same family. HSNIE is caused by a mutation in the DNMT1 gene and is inherited in an autosomal dominant manner. There is no effective treatment, but management may include injury prevention, the use of hearing aids, and sedative or antipsychotic medications for symptoms of dementia.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Leukemia ?"}, {"role": "assistant", "content": "Researchers are studying various drugs, immunotherapies, and other types of treatments. Because leukemia is a complicated disease, researchers are also studying the effectiveness of using combinations of treatments. Following are a few examples of some areas of current research. The drug imatinib (Gleevec) is important in the treatment of chronic myeloid leukemia. However, imatinib stops working in some people with leukemia because the cells become resistant. Fortunately, two drugs, dasatinib (Sprycel) and nilotinib (Tasigna), are being used to treat people who stop responding to imatinib. Both are approved by the FDA for use in patients. These drugs work against the same abnormal protein targeted by imatinib, but in different ways. Gene therapy -- replacing, manipulating, or supplementing nonfunctional genes with healthy genes -- is being explored for treatment of leukemia. It is being studied as a way to stimulate a patient's immune system to kill leukemia cells and also to interfere with the production of proteins that cause cells to become cancerous. Learn more about ongoing leukemia research.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Do you have information about Clinical Trials"}, {"role": "assistant", "content": "Summary : Clinical trials are research studies that test how well new medical approaches work in people. Each study answers scientific questions and tries to find better ways to prevent, screen for, diagnose, or treat a disease. Clinical trials may also compare a new treatment to a treatment that is already available. Every clinical trial has a protocol, or action plan, for conducting the trial. The plan describes what will be done in the study, how it will be conducted, and why each part of the study is necessary. Each study has its own rules about who can take part. Some studies need volunteers with a certain disease. Some need healthy people. Others want just men or just women. An Institutional Review Board (IRB) reviews, monitors, and approves many clinical trials. It is an independent committee of physicians, statisticians, and members of the community. Its role is to - Make sure that the study is ethical - Protect the rights and welfare of the participants - Make sure that the risks are reasonable when compared to the potential benefits In the United States, a clinical trial must have an IRB if it is studying a drug, biological product, or medical device that the Food and Drug Administration (FDA) regulates, or it is funded or carried out by the federal government. NIH: National Institutes of Health", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Cleft palate X-linked ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Cleft palate X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Cleft palate X-linked. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Bifid uvula - Cleft palate - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Sturge-Weber syndrome ?"}, {"role": "assistant", "content": "What are some of the benefits and risks of laser treatment for port-wine stains associated with Sturge-Weber syndrome? Pulsed dye laser (PDL) remains the treatment of choice for the majority of children with a port-wine stain (PWS). Laser treatment of port-wine stains may produce good cosmetic results, with a low incidence of adverse skin changes and other side effects. A major benefit of laser treatment for a PWS is that it can help to minimize psychological problems associated with the social consequences of having a PWS. It has been shown that large facial port-wine stains are associated with an increase in mood and social problems in children older than 10 years of age.Most experts agree that there is little risk associated with the use of PDL in a child with Sturge-Weber syndrome (SWS), provided that anticonvulsant therapy is maintained and that adequate care is taken. The level of pain associated with laser treatment varies. Management of anesthesia should be carefully planned to minimize the potential for secondary effects. Few children with SWS achieve complete clearance of their PWS with laser treatment; PDL does have limitations when large areas or dermatomal patterns are involved.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to Glanzmann thrombasthenia ?"}, {"role": "assistant", "content": "Mutations in the ITGA2B or ITGB3 gene cause Glanzmann thrombasthenia. These genes provide instructions for making the two parts (subunits) of a receptor protein called integrin alphaIIb/beta3 (IIb3). This protein is abundant on the surface of platelets. Platelets are small cell fragments that circulate in blood and are an essential component of blood clots. During clot formation, integrin IIb3 helps platelets bind together. Blood clots protect the body after injury by sealing off damaged blood vessels and preventing further blood loss. ITGA2B or ITGB3 gene mutations result in a shortage (deficiency) of functional integrin IIb3. As a result, platelets cannot clump together to form a blood clot, leading to prolonged bleeding. Three types of Glanzmann thrombasthenia have been classified according to the amount of integrin IIb3 that is available. People with type I (the most common type) have less than 5 percent of normal integrin IIb3 levels, people with type II have between 5 and 20 percent of normal integrin IIb3 levels, and people with the variant type have adequate integrin IIb3 levels but produce only nonfunctional integrin. Some people with Glanzmann thrombasthenia do not have an identified mutation in either the ITGA2B or ITGB3 gene; the cause of the disorder in these individuals is unknown.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Who is at risk for Cataract? ?"}, {"role": "assistant", "content": "Age-related cataracts develop in two ways. - Clumps of protein reduce the sharpness of the image reaching the retina. - The clear lens slowly changes to a yellowish/brownish color, adding a brownish tint to vision. Clumps of protein reduce the sharpness of the image reaching the retina. The clear lens slowly changes to a yellowish/brownish color, adding a brownish tint to vision. Protein Clumpings Cloud the Lens The lens consists mostly of water and protein. When the protein clumps up, it clouds the lens and reduces the light that reaches the retina. The clouding may become severe enough to cause blurred vision. Most age-related cataracts develop from protein clumpings. When a cataract is small, the cloudiness affects only a small part of the lens. You may not notice any changes in your vision. Cataracts tend to grow slowly, so vision gets worse gradually. Over time, the cloudy area in the lens may get larger, and the cataract may increase in size. Seeing may become more difficult. Your vision may get duller or blurrier. Discoloration of the Lens Cataracts cause the lens to change to a yellowish/brownish color. As the clear lens slowly colors with age, your vision gradually may acquire a brownish shade. At first, the amount of tinting may be small and may not cause a vision problem. Over time, increased tinting may make it more difficult to read and perform other routine activities. This gradual change in the amount of tinting does not affect the sharpness of the image transmitted to the retina. If you have advanced lens discoloration, you may not be able to identify blues and purples. You may be wearing what you believe to be a pair of black socks, only to find out from friends that you are wearing purple socks. Risk Factors The risk of cataract increases as you get older. Other risk factors for cataract include - certain diseases like diabetes - personal behavior like smoking or alcohol use - environmental factors such as prolonged exposure to ultraviolet sunlight. certain diseases like diabetes personal behavior like smoking or alcohol use environmental factors such as prolonged exposure to ultraviolet sunlight.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What to do for Viral Gastroenteritis ?"}, {"role": "assistant", "content": "- Viral gastroenteritis is inflammation of the lining of the stomach, small intestine, and large intestine. Several different viruses can cause viral gastroenteritis, which is highly contagious and extremely common. - The main symptoms of viral gastroenteritis are watery diarrhea and vomiting. - Dehydration is the most common complication of viral gastroenteritis. - When someone does not drink enough fluids to replace those that are lost through vomiting and diarrhea, dehydration can result. Signs of dehydration in adults are excessive thirst, infrequent urination, dark-colored urine, dry skin, and lethargy, dizziness, or faintness. - Infants, young children, older adults, and people with weak immune systems have the greatest risk of becoming dehydrated. - Viral gastroenteritis is transmitted from person to person. - Diagnosis of viral gastroenteritis is usually based on symptoms alone. - Most cases of viral gastroenteritis resolve over time without specific treatment. Antibiotics are not effective against viral infections. The primary goal of treatment is to reduce symptoms. - Adults with viral gastroenteritis should drink plenty of liquids such as fruit juices, sports drinks, caffeine-free soft drinks, and broths to replace fluids and electrolytes. - Children with viral gastroenteritis should be given oral rehydration solutions to prevent dehydration. - People can reduce their chances of getting or spreading viral gastroenteritis if they wash their hands thoroughly with soap and warm water for 20 seconds after using the bathroom or changing diapers and before eating or handling food, disinfect contaminated surfaces, and avoid foods or liquids that might be contaminated.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Huntington disease-like syndrome ?"}, {"role": "assistant", "content": "As its name suggests, a Huntington disease-like (HDL) syndrome is a condition that resembles Huntington disease. Researchers have described four HDL syndromes, designated Huntington disease-like 1 (HDL1) through Huntington disease-like 4 (HDL4). These progressive brain disorders are characterized by uncontrolled movements, emotional problems, and loss of thinking ability. HDL syndromes occur in people with the characteristic features of Huntington disease who do not have a mutation in HD, the gene typically associated with that disorder. HDL1, HDL2, and HDL4 usually appear in early to mid-adulthood, although they can begin earlier in life. The first signs and symptoms of these conditions often include irritability, emotional problems, small involuntary movements, poor coordination, and trouble learning new information or making decisions. Many affected people develop involuntary jerking or twitching movements known as chorea. As the disease progresses, these abnormal movements become more pronounced. Affected individuals may develop problems with walking, speaking, and swallowing. People with these disorders also experience changes in personality and a decline in thinking and reasoning abilities. Individuals with an HDL syndrome can live for a few years to more than a decade after signs and symptoms begin. HDL3 begins much earlier in life than most of the other HDL syndromes (usually around age 3 or 4). Affected children experience a decline in thinking ability, difficulties with movement and speech, and seizures. Because HDL3 has a somewhat different pattern of signs and symptoms and a different pattern of inheritance, researchers are unsure whether it belongs in the same category as the other HDL syndromes.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Hailey-Hailey disease inherited ?"}, {"role": "assistant", "content": "How is Hailey-Hailey disease inherited? Hailey-Hailey disease is inherited in an autosomal dominant manner. This means that having only one mutated copy of the disease-causing gene in each cell is enough to cause signs or symptoms of the condition. Some people with Hailey-Hailey disease inherit the condition from an affected parent. Other cases are due to a new mutation in the gene and occur in people with no history of the condition in their family. When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) risk to inherit the mutated copy of the gene.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Baraitser-Winter syndrome ?"}, {"role": "assistant", "content": "Baraitser-Winter syndrome is a condition that affects the development of many parts of the body, particularly the face and the brain. An unusual facial appearance is the most common characteristic of Baraitser-Winter syndrome. Distinctive facial features can include widely spaced eyes (hypertelorism), large eyelid openings, droopy eyelids (ptosis), high-arched eyebrows, a broad nasal bridge and tip of the nose, a long space between the nose and upper lip (philtrum), full cheeks, and a pointed chin. Structural brain abnormalities are also present in most people with Baraitser-Winter syndrome. These abnormalities are related to impaired neuronal migration, a process by which nerve cells (neurons) move to their proper positions in the developing brain. The most frequent brain abnormality associated with Baraitser-Winter syndrome is pachygyria, which is an area of the brain that has an abnormally smooth surface with fewer folds and grooves. Less commonly, affected individuals have lissencephaly, which is similar to pachygyria but involves the entire brain surface. These structural changes can cause mild to severe intellectual disability, developmental delay, and seizures. Other features of Baraitser-Winter syndrome can include short stature, ear abnormalities and hearing loss, heart defects, presence of an extra (duplicated) thumb, and abnormalities of the kidneys and urinary system. Some affected individuals have limited movement of large joints, such as the elbows and knees, which may be present at birth or develop over time. Rarely, people with Baraitser-Winter syndrome have involuntary muscle tensing (dystonia).", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by common variable immune deficiency ?"}, {"role": "assistant", "content": "CVID is estimated to affect 1 in 25,000 to 1 in 50,000 people worldwide, although the prevalence can vary across different populations.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Parsonage Turner syndrome ?"}, {"role": "assistant", "content": "How might Parsonage Turner syndrome be treated? Treatment for Parsonage Turner syndrome (PTS) varies based on the signs and symptoms present in each person. For example, pain medications may be prescribed depending on the severity of the nerve pain. Other techniques for pain management include application of heat or cold and transcutaneous electrical nerve stimulation (a method of pain relief in which a special device transmits low-voltage electrical impulses through electrodes on the skin to an area of the body that is in pain). Many affected people undergo physical therapy and/or occupational therapy to maintain muscle strength and range of motion of affected joints once the pain begins to subside. Surgeries to restore movement and function to the shoulder muscles and joint may be considered if other treatment options are not effective.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Erythromelalgia ?"}, {"role": "assistant", "content": "Erythromelalgia (EM) is a rare condition characterized by episodes of burning pain, warmth, swelling and redness in parts of the body, particularly the hands and feet. This condition may occur spontaneously (primary EM) or secondary to neurological diseases, autoimmune diseases, or myeloproliferative disorders (secondary EM). Episodes may be triggered by increased body temperature, alcohol, and eating spicy foods. About 15% of cases are caused by mutations in the SCN9A gene and are inherited in an autosomal dominant manner. Other cases may be caused by unidentified genes or by non-genetic factors. Treatment depends on the underlying cause and may include topical and/or oral medications. In some cases, the condition goes away without treatment.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Barber Say syndrome ?"}, {"role": "assistant", "content": "Barber Say syndrome is a very rare condition characterized by the association of excessive hair growth (hypertrichosis), papery thin and fragile (atrophic) skin, outward turned eyelids (ectropion) and a large mouth (macrostomia). It has been described in less than 20 patients in the medical literature. Barber Say syndrome has a variable presentation, with reports of both mild and severe cases. Inheritance has been debated, with qualities suggestive of autosomal dominant and autosomal recessive. A recent study suggests that at least some cases of Barber Say syndrome are caused by dominant mutations in the TWIST2 gene. Treatment remains a challenge for both patients and doctors, and requires a multidisciplinary approach.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to prevent Pneumonia ?"}, {"role": "assistant", "content": "Pneumonia can be very serious and even life threatening. When possible, take steps to prevent the infection, especially if you're in a high-risk group.\n \nVaccines\n \nVaccines are available to prevent pneumococcal pneumonia and the flu. Vaccines can't prevent all cases of infection. However, compared to people who don't get vaccinated, those who do and still get pneumonia tend to have:\n \nMilder cases of the infection\n \nPneumonia that doesn't last as long\n \nFewer serious complications\n \nPneumococcal Pneumonia Vaccine\n \nA vaccine is available to prevent pneumococcal pneumonia. In most adults, one shot is good for at least 5 years of protection. This vaccine often is recommended for:\n \nPeople who are 65 years old or older.\n \nPeople who have chronic (ongoing) diseases, serious long-term health problems, or weak immune systems. For example, this may include people who have cancer, HIV/AIDS, asthma, or damaged or removed spleens.\n \nPeople who smoke.\n \nChildren who are younger than 5 years old.\n \nChildren who are 518 years of age with certain medical conditions, such as heart or lung diseases or cancer. For more information, talk with your child's doctor.\n \nFor more information about the pneumococcal pneumonia vaccine, go to the Centers for Disease Control and Prevention's (CDC's) Vaccines and Preventable Diseases: Pneumococcal Vaccination Web page.\n \nInfluenza Vaccine\n \nThe vaccine that helps prevent the flu is good for 1 year. It's usually given in October or November, before peak flu season.\n \nBecause many people get pneumonia after having the flu, this vaccine also helps prevent pneumonia.\n \nFor more information about the influenza vaccine, go to the CDC's Vaccines and Preventable Diseases: Seasonal Influenza (Flu) Vaccination Web page.\n \nHib Vaccine\n \nHaemophilus influenzae type b (Hib) is a type of bacteria that can cause pneumonia and meningitis (men-in-JI-tis). (Meningitis is an infection of the covering of the brain and spinal cord.) The Hib vaccine is given to children to help prevent these infections.\n \nThe vaccine is recommended for all children in the United States who are younger than 5 years old. The vaccine often is given to infants starting at 2 months of age.\n \nFor more information about the Hib vaccine, go to the CDC's Vaccines and Preventable Diseases: Hib Vaccination Web page.\n \nOther Ways To Help Prevent Pneumonia\n \nYou also can take the following steps to help prevent pneumonia:\n \nWash your hands with soap and water or alcohol-based rubs to kill germs.\n \nDon't smoke. Smoking damages your lungs' ability to filter out and defend against germs. For information about how to quit smoking, go to the Health Topics Smoking and Your Heart article. Although this resource focuses on heart health, it includes general information about how to quit smoking.\n \nKeep your immune system strong. Get plenty of rest and physical activity and follow a healthy diet.\n \nIf you have pneumonia, limit contact with family and friends. Cover your nose and mouth while coughing or sneezing, and get rid of used tissues right away. These actions help keep the infection from spreading.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Childhood ovarian cancer ?"}, {"role": "assistant", "content": "Childhood ovarian cancer is a rare type of cancer that occurs due to abnormal and uncontrolled cell growth in the ovaries. The childhood form, specifically, is extremely rare and accounts for less than 5% of all ovarian cancer cases. The most common types of ovarian cancers diagnosed in children and adolescents include germ cell tumors, followed by epithelial tumors, stromal tumors, and then other tumors (such as Burkitt lymphoma and small cell carcinoma of the ovary). Many people with early ovarian cancer have no signs or symptoms of the condition. When present, symptoms may include painful menstrual periods; an abdominal lump; pain or swelling in the abdomen; having male sex traits (i.e. body hair or a deep voice); and/or early signs of puberty. The underlying cause of childhood ovarian cancer is often unknown. Certain inherited conditions, such as Ollier disease, Maffucci syndrome and Peutz-Jeghers syndrome are associated with an increased risk of developing childhood ovarian cancer. Treatment varies based on many factors including the type of ovarian tumor and the severity of the condition. It may include surgery, radiation therapy, and/or chemotherapy.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Prader-Willi syndrome ?"}, {"role": "assistant", "content": "What causes Prader-Willi syndrome? Prader-Willi syndrome (PWS) is caused by the loss of active genes in a specific region of chromosome 15. People normally inherit one copy of chromosome 15 from each parent. Some genes on chromosome 15 are only active (or \"expressed\") on the copy that is inherited from a person's father (the paternal copy). When genes are only active if inherited from a specific parent, it is called genomic imprinting. About 70% of cases of PWS occur when a person is missing specific genes on the long arm of the paternal copy of chromosome 15. This is called a deletion. While there are copies of these same genes on the maternal copy of chromosome 15, the maternal copies of these genes are not expressed. In about 25% of cases, PWS is due to a person inheriting only 2 maternal copies of chromosome 15, instead of one copy from each parent. This is called maternal uniparental disomy. Rarely (in about 2% of cases), PWS is caused by a rearrangement of chromosome material called a translocation, or by a change (mutation) or other defect that abnormally inactivates genes on the paternal chromosome 15. Each of these genetic changes result in a loss of gene function on part of chromosome 15, likely causing the characteristic features of PWS.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by Charcot-Marie-Tooth disease ?"}, {"role": "assistant", "content": "Charcot-Marie-Tooth disease is the most common inherited disorder that involves the peripheral nerves, affecting an estimated 150,000 people in the United States. It occurs in populations worldwide with a prevalence of about 1 in 2,500 individuals.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Lambert-Eaton Myasthenic Syndrome ?"}, {"role": "assistant", "content": "There is no cure for LEMS. Treatment is directed at decreasing the autoimmune response (through the use of steroids, plasmapheresis, or high-dose intravenous immunoglobulin) or improving the transmission of the disrupted electrical impulses by giving drugs such as di-amino pyridine or pyridostigmine bromide (Mestinon). For patients with small cell lung cancer, treatment of the cancer is the first priority.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Alzheimer's Disease ?"}, {"role": "assistant", "content": "Currently there are no medicines that can slow the progression of AD. However, four FDA-approved medications are used to treat AD symptoms. These drugs help individuals carry out the activities of daily living by maintaining thinking, memory, or speaking skills. They can also help with some of the behavioral and personality changes associated with AD. However, they will not stop or reverse AD and appear to help individuals for only a few months to a few years. Donepezil (Aricept), rivastigmine (Exelon), and galantamine (Razadyne) are prescribed to treat mild to moderate AD symptoms. Donepezil was recently approved to treat severe AD as well. The newest AD medication is memantine (Namenda), which is prescribed to treat moderate to severe AD symptoms.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by X-linked hyper IgM syndrome ?"}, {"role": "assistant", "content": "X-linked hyper IgM syndrome is estimated to occur in 2 per million newborn boys.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Do you have information about Child Safety"}, {"role": "assistant", "content": "Summary : As parents, we want to keep our children safe from harm. Take steps to keep your children safe: - Install the right child safety seat in your car - Teach children how to cross the street safely - Make sure they wear the right gear and equipment for sports - Install and test smoke alarms - Store medicines, cleaners and other dangerous substances in locked cabinets - Babyproof your home - Don't leave small children unattended", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Rheumatic Fever ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Rheumatic Fever? Rheumatic fever is primarily diagnosed in children between the ages of 6 and 16 and can affect many different systems of the body, including the heart, joints, nervous system and/or skin. The condition usually develops approximately 14-28 days after infection with group A Streptococcus bacteria, such as strep throat or scarlet fever. Early signs and symptoms may include sore throat; swollen red tonsils; fever; headache; and/or muscle aches. Affected people may also experience: Abdominal pain Rheumatic heart disease Joint pain and/or swelling Nosebleeds Skin nodules (painless, firm, round lumps underneath the skin) Skin rash Sydenham chorea (abrupt, non-repetitive limb movements and grimaces) People with a history of rheumatic fever have a high risk of developing recurrent episodes of the condition. This can cause progressive (worsening over time) heart damage. The Human Phenotype Ontology provides the following list of signs and symptoms for Rheumatic Fever. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of temperature regulation 90% Anorexia 90% Arthritis 90% Hypermelanotic macule 90% Nausea and vomiting 90% Recurrent pharyngitis 90% Abdominal pain 50% Abnormality of the aortic valve 50% Abnormality of the endocardium 50% Abnormality of the mitral valve 50% Abnormality of the myocardium 50% Arrhythmia 50% Arthralgia 50% Chest pain 50% Chorea 50% Pallor 50% Sinusitis 50% Abnormality of the pericardium 7.5% Abnormality of the pleura 7.5% Aplasia/Hypoplasia of the abdominal wall musculature 7.5% Behavioral abnormality 7.5% Constipation 7.5% Epistaxis 7.5% Gait disturbance 7.5% Hemiballismus 7.5% Migraine 7.5% Nephrotic syndrome 7.5% Neurological speech impairment 7.5% Respiratory insufficiency 7.5% Abnormality of the immune system - Fever - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by Canavan disease ?"}, {"role": "assistant", "content": "While this condition occurs in people of all ethnic backgrounds, it is most common in people of Ashkenazi (eastern and central European) Jewish heritage. Studies suggest that this disorder affects 1 in 6,400 to 13,500 people in the Ashkenazi Jewish population. The incidence in other populations is unknown.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Extragonadal Germ Cell Tumors ?"}, {"role": "assistant", "content": "Imaging and blood tests are used to detect (find) and diagnose extragonadal germ cell tumors. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. The testicles may be checked for lumps, swelling, or pain. A history of the patient's health habits and past illnesses and treatments will also be taken. - Chest x-ray : An x-ray of the organs and bones inside the chest. An x-ray is a type of energy beam that can go through the body and onto film, making a picture of areas inside the body. - Serum tumor marker test : A procedure in which a sample of blood is examined to measure the amounts of certain substances released into the blood by organs, tissues, or tumor cells in the body. Certain substances are linked to specific types of cancer when found in increased levels in the blood. These are called tumor markers. The following three tumor markers are used to detect extragonadal germ cell tumor: - Alpha-fetoprotein (AFP). - Beta-human chorionic gonadotropin (-hCG). - Lactate dehydrogenase (LDH). Blood levels of the tumor markers help determine if the tumor is a seminoma or nonseminoma. - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. Sometimes a CT scan and a PET scan are done at the same time. A PET scan is a procedure to find malignant tumor cells in the body. A small amount of radioactive glucose (sugar) is injected into a vein. The PET scanner rotates around the body and makes a picture of where glucose is being used in the body. Malignant tumor cells show up brighter in the picture because they are more active and take up more glucose than normal cells do. When a PET scan and CT scan are done at the same time, it is called a PET-CT. - Biopsy : The removal of cells or tissues so they can be viewed under a microscope by a pathologist to check for signs of cancer. The type of biopsy used depends on where the extragonadal germ cell tumor is found. - Excisional biopsy : The removal of an entire lump of tissue. - Incisional biopsy : The removal of part of a lump or sample of tissue. - Core biopsy : The removal of tissue using a wide needle. - Fine-needle aspiration (FNA) biopsy : The removal of tissue or fluid using a thin needle.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is ovarian cancer inherited ?"}, {"role": "assistant", "content": "Most cases of ovarian cancer are not caused by inherited genetic factors. These cancers are associated with somatic mutations that are acquired during a person's lifetime, and they do not cluster in families. A predisposition to cancer caused by a germline mutation is usually inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to increase a person's chance of developing cancer. Although ovarian cancer occurs only in women, the mutated gene can be inherited from either the mother or the father. It is important to note that people inherit an increased likelihood of developing cancer, not the disease itself. Not all people who inherit mutations in these genes will ultimately develop cancer. In many cases of ovarian cancer that clusters in families, the genetic basis for the disease and the mechanism of inheritance are unclear.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Angelman syndrome inherited ?"}, {"role": "assistant", "content": "Most cases of Angelman syndrome are not inherited, particularly those caused by a deletion in the maternal chromosome 15 or by paternal uniparental disomy. These genetic changes occur as random events during the formation of reproductive cells (eggs and sperm) or in early embryonic development. Affected people typically have no history of the disorder in their family. Rarely, a genetic change responsible for Angelman syndrome can be inherited. For example, it is possible for a mutation in the UBE3A gene or in the nearby region of DNA that controls gene activation to be passed from one generation to the next.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Pendred syndrome ?"}, {"role": "assistant", "content": "Pendred syndrome is a condition usually characterized by sensorineural hearing loss in both ears (bilateral) and euthyroid goiter (enlargement of the thyroid gland with normal thyroid gland function). The amount of hearing loss varies among affected people. In many cases, significant hearing loss is present at birth. In other cases, hearing loss does not develop until later in infancy or childhood. Some people have problems with balance caused by dysfunction of the part of the inner ear that helps with balance and orientation (the vestibular system). Pendred syndrome is inherited in an autosomal recessive manner. Mutations in 3 genes are currently known to cause the condition (SLC26A4, FOXI1, and KCNJ10) and are found in about half of affected people. Other genes responsible for the condition have not yet been identified.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for SYNGAP1-related intellectual disability ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of SYNGAP1-related intellectual disability: - Eunice Kennedy Shriver National Institute of Child Health and Human Development: What Are Treatments for Intellectual and Developmental Disabilities? - Genetic Testing Registry: Mental retardation, autosomal dominant 5 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "what research (or clinical trials) is being done for Learning Disabilities ?"}, {"role": "assistant", "content": "The National Institute of Neurological Disorders and Stroke (NINDS) and other Institutes of the National Institutes of Health (NIH) support research learning disabilities through grants to major research institutions across the country. Current research avenues focus on developing techniques to diagnose and treat learning disabilities and increase understanding of their biological basis.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the stages of Chronic Myeloproliferative Neoplasms ?"}, {"role": "assistant", "content": "Key Points\n - There is no standard staging system for chronic myeloproliferative neoplasms.\n \n \n There is no standard staging system for chronic myeloproliferative neoplasms.\n Staging is the process used to find out how far the cancer has spread. There is no standard staging system for chronic myeloproliferative neoplasms. Treatment is based on the type of myeloproliferative neoplasm the patient has. It is important to know the type in order to plan treatment.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "what research (or clinical trials) is being done for Childhood Brain and Spinal Cord Tumors ?"}, {"role": "assistant", "content": "New types of treatment are being tested in clinical trials.\n This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. High-dose chemotherapy with stem cell transplant High-dose chemotherapy with stem cell transplant is a way of giving high doses of chemotherapy and replacing blood -forming cells destroyed by the cancer treatment. Stem cells (immature blood cells) are removed from the blood or bone marrow of the patient or a donor and are frozen and stored. After the chemotherapy is completed, the stored stem cells are thawed and given back to the patient through an infusion. These reinfused stem cells grow into (and restore) the bodys blood cells.\n \n \n Patients may want to think about taking part in a clinical trial.\n For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward.\n \n \n Patients can enter clinical trials before, during, or after starting their cancer treatment.\n Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. Information about clinical trials is available from the NCI website.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Nestor-guillermo progeria syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Nestor-guillermo progeria syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Nestor-guillermo progeria syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the forearm - Abnormality of the ribs - Atherosclerosis - Autosomal recessive inheritance - Convex nasal ridge - Delayed closure of the anterior fontanelle - Dental crowding - Failure to thrive - Flexion contracture - Hypoplasia of midface - Joint stiffness - Lipoatrophy - Malar flattening - Osteolytic defects of the distal phalanges of the hand - Osteoporosis - Progressive clavicular acroosteolysis - Proptosis - Pulmonary hypertension - Scoliosis - Short stature - Sinus tachycardia - Sparse eyebrow - Sparse eyelashes - Spotty hyperpigmentation - Wide cranial sutures - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) methylmalonic acidemia with homocystinuria ?"}, {"role": "assistant", "content": "Methylmalonic acidemia with homocystinuria is an inherited disorder in which the body is unable to properly process protein building blocks (amino acids), certain fats (lipids), and a waxy fat-like substance called cholesterol. Individuals with this disorder have a combination of features from two separate conditions, methylmalonic acidemia and homocystinuria. The signs and symptoms of the combined condition, methylmalonic acidemia with homocystinuria, usually develop in infancy, although they can begin at any age. When the condition begins early in life, affected individuals typically have an inability to grow and gain weight at the expected rate (failure to thrive), which is sometimes recognized before birth (intrauterine growth retardation). These infants can also have difficulty feeding and an abnormally pale appearance (pallor). Neurological problems are also common in methylmalonic acidemia with homocystinuria, including weak muscle tone (hypotonia) and seizures. Most infants and children with this condition have an unusually small head size (microcephaly), delayed development, and intellectual disability. Less common features of the condition include eye problems and a blood disorder called megaloblastic anemia. Megaloblastic anemia occurs when a person has a low number of red blood cells (anemia), and the remaining red blood cells are larger than normal (megaloblastic). The signs and symptoms of methylmalonic acidemia with homocystinuria worsen over time, and the condition can be life-threatening if not treated. When methylmalonic acidemia with homocystinuria begins in adolescence or adulthood, the signs and symptoms usually include psychiatric changes and cognitive problems. Affected individuals can exhibit changes in their behavior and personality; they may become less social and may experience hallucinations, delirium, and psychosis. In addition, these individuals can begin to lose previously acquired mental and movement abilities, resulting in a decline in school or work performance, difficulty controlling movements, memory problems, speech difficulties, a decline in intellectual function (dementia), or an extreme lack of energy (lethargy). Some people with methylmalonic acidemia with homocystinuria whose signs and symptoms begin later in life develop a condition called subacute combined degeneration of the spinal cord, which leads to numbness and weakness in the lower limbs, difficulty walking, and frequent falls.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Who is at risk for Nocardiosis? ?"}, {"role": "assistant", "content": "The bacteria that cause nocardiosis are commonly found in soil and water.\n \nYou could become sick with nocardiosis if:\n \n - You inhale (breathe in) the bacteria\n - Bacteria gets into an open wound or cut\n \n \nIn rare cases, infection can occur during surgical procedures.\n \nFortunately, nocardiosis is not spread person to person, so being around someone who has the disease will not make you sick.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by Klippel-Trenaunay syndrome ?"}, {"role": "assistant", "content": "Klippel-Trenaunay syndrome is estimated to affect at least 1 in 100,000 people worldwide.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Nasopharyngeal Cancer ?"}, {"role": "assistant", "content": "Key Points\n - There are different types of treatment for patients with nasopharyngeal cancer. - Three types of standard treatment are used: - Radiation therapy - Chemotherapy - Surgery - New types of treatment are being tested in clinical trials. - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed.\n \n \n There are different types of treatment for patients with nasopharyngeal cancer.\n Different types of treatment are available for patients with nasopharyngeal cancer. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Patients may want to think about taking part in a clinical trial. Some clinical trials are open only to patients who have not started treatment.\n \n \n Three types of standard treatment are used:\n Radiation therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy: - External radiation therapy uses a machine outside the body to send radiation toward the cancer. Certain ways of giving radiation therapy can help keep radiation from damaging nearby healthy tissue. These types of radiation therapy include the following: - Intensity-modulated radiation therapy (IMRT): IMRT is a type of 3-dimensional (3-D) radiation therapy that uses a computer to make pictures of the size and shape of the tumor. Thin beams of radiation of different intensities (strengths) are aimed at the tumor from many angles. Compared to standard radiation therapy, intensity-modulated radiation therapy may be less likely to cause dry mouth. - Stereotactic radiation therapy: A rigid head frame is attached to the skull to keep the head still during the radiation treatment. A machine aims radiation directly at the tumor. The total dose of radiation is divided into several smaller doses given over several days. This procedure is also called stereotactic external-beam radiation therapy and stereotaxic radiation therapy. - Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. The way the radiation therapy is given depends on the type and stage of the cancer being treated. External and internal radiation therapy are used to treat nasopharyngeal cancer. External radiation therapy to the thyroid or the pituitary gland may change the way the thyroid gland works. A blood test to check the thyroid hormone level in the blood is done before and after therapy to make sure the thyroid gland is working properly. It is also important that a dentist check the patients teeth, gums, and mouth, and fix any existing problems before radiation therapy begins. Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). The way the chemotherapy is given depends on the type and stage of the cancer being treated. Chemotherapy may be given after radiation therapy to kill any cancer cells that are left. Treatment given after radiation therapy, to lower the risk that the cancer will come back, is called adjuvant therapy. See Drugs Approved for Head and Neck Cancer for more information. (Nasopharyngeal cancer is a type of head and neck cancer.) Surgery Surgery is a procedure to find out whether cancer is present, to remove cancer from the body, or to repair a body part. Also called an operation. Surgery is sometimes used for nasopharyngeal cancer that does not respond to radiation therapy. If cancer has spread to the lymph nodes, the doctor may remove lymph nodes and other tissues in the neck.\n \n \n New types of treatment are being tested in clinical trials.\n Information about clinical trials is available from the NCI website.\n \n \n Patients may want to think about taking part in a clinical trial.\n For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward.\n \n \n Patients can enter clinical trials before, during, or after starting their cancer treatment.\n Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.\n \n \n Follow-up tests may be needed.\n Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups.\n \n\t\t \n\t\t Treatment Options by Stage\n\t\t \n\t\t \n\t\t Stage I Nasopharyngeal Cancer\n\t\t Treatment of stage I nasopharyngeal cancer is usually radiation therapy to the tumor and lymph nodes in the neck. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage I nasopharyngeal cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.\n\t\t \n\t\t \n\t\t Stage II Nasopharyngeal Cancer\n\t\t Treatment of stage II nasopharyngeal cancer may include the following: - Chemotherapy given with radiation therapy, followed by more chemotherapy. - Radiation therapy to the tumor and lymph nodes in the neck. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage II nasopharyngeal cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.\n\t\t \n\t\t \n\t\t Stage III Nasopharyngeal Cancer\n\t\t Treatment of stage III nasopharyngeal cancer may include the following: - Chemotherapy given with radiation therapy, which may be followed by more chemotherapy. - Radiation therapy. - Radiation therapy followed by surgery to remove cancer -containing lymph nodes in the neck that remain or come back after radiation therapy. - A clinical trial of chemotherapy given before, with, or after radiation therapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage III nasopharyngeal cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.\n\t\t \n\t\t \n\t\t Stage IV Nasopharyngeal Cancer\n\t\t Treatment of stage IV nasopharyngeal cancer may include the following: - Chemotherapy given with radiation therapy, followed by more chemotherapy. - Radiation therapy. - Radiation therapy followed by surgery to remove cancer -containing lymph nodes in the neck that remain or come back after radiation therapy. - Chemotherapy for cancer that has metastasized (spread) to other parts of the body. - A clinical trial of chemotherapy given before, with, or after radiation therapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage IV nasopharyngeal cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to primary hyperoxaluria ?"}, {"role": "assistant", "content": "Mutations in the AGXT, GRHPR, and HOGA1 genes cause primary hyperoxaluria types 1, 2, and 3, respectively. These genes provide instructions for making enzymes that are involved in the breakdown and processing of protein building blocks (amino acids) and other compounds. The enzyme produced from the HOGA1 gene is involved in the breakdown of an amino acid, which results in the formation of a compound called glyoxylate. This compound is further broken down by the enzymes produced from the AGXT and GRHPR genes. Mutations in the AGXT, GRHPR, or HOGA1 gene lead to a decrease in production or activity of the respective proteins, which prevents the normal breakdown of glyoxylate. AGXT and GRHPR gene mutations result in an accumulation of glyoxylate, which is then converted to oxalate for removal from the body as a waste product. HOGA1 gene mutations also result in excess oxalate, although researchers are unsure as to how this occurs. Oxalate that is not excreted from the body combines with calcium to form calcium oxalate deposits, which can damage the kidneys and other organs.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Agnosia ?"}, {"role": "assistant", "content": "Treatment is generally symptomatic and supportive. The primary cause of the disorder should be determined in order to treat other problems that may contribute to or result in agnosia.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Autosomal recessive pseudohypoaldosteronism type 1 ?"}, {"role": "assistant", "content": "Autosomal recessive pseudohypoaldosteronism type 1 is a disorder of electrolyte metabolism characterized by excess loss of salt in the urine and high concentrations of sodium in sweat, stool, and saliva. The disorder involves multiple organ systems and is especially dangerous in the newborn period. Laboratory tests may show hyponatremia, hyperkalemia, and increased plasma renin activity with high levels of aldosterone in the blood. Respiratory tract infections are common in affected children. Treatment involves aggressive salt replacement and control of hyperkalemia. The disorder may become less severe with age. Autosomal recessive pseudohypoaldosteronism type 1 (PHA1B) is transmitted in an autosomal recessive manner and is caused by mutations in the genes coding for the subunits of the amiloride-sensitive sodium channel (SCNN1A, SCNN1B and SCNN1G).", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Who is at risk for Parasites - Lice - Body Lice? ?"}, {"role": "assistant", "content": "Body lice infestation is found worldwide but generally is limited to persons who live under conditions of crowding and poor hygiene who do not have access to regular bathing and changes of clean clothes, such as:\n \n - the homeless,\n - refugees,\n - survivors of war or natural disasters.\n \n \nInfestations can spread rapidly under such conditions. Body lice infestation can occur in people of all races.\n \nBody lice are spread through direct contact with a person who has body lice or through contact with articles such as clothing, beds, bed linens, or towels that have been in contact with an infested person. However, in the United States, actual infestation with body lice tends to be occur only in homeless, transient persons who do not have access to regular bathing and changes of clean clothes.\n \nBody lice can transmit disease. Epidemics of typhus and louse-borne relapsing fever have been caused by body lice (typically in areas where climate, poverty, and social customs or war and social upheaval prevent regular changes and laundering of clothing).", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to type A insulin resistance syndrome ?"}, {"role": "assistant", "content": "Type A insulin resistance syndrome results from mutations in the INSR gene. This gene provides instructions for making a protein called an insulin receptor, which is found in many types of cells. Insulin receptors are embedded in the outer membrane surrounding the cell, where they attach (bind) to insulin circulating in the bloodstream. This binding triggers signaling pathways that influence many cell functions. Most of the INSR gene mutations that cause type A insulin resistance syndrome lead to the production of a faulty insulin receptor that cannot transmit signals properly. Although insulin is present in the bloodstream, the defective receptors make it less able to exert its effects on cells and tissues. This severe resistance to the effects of insulin impairs blood sugar regulation and leads to diabetes mellitus. In females with type A insulin resistance syndrome, excess insulin in the bloodstream interacts with hormonal factors during adolescence to cause abnormalities of the menstrual cycle, ovarian cysts, and other features of the disorder. This condition is designated as type A to distinguish it from type B insulin resistance syndrome. Although the two disorders have similar signs and symptoms, type B is not caused by INSR gene mutations; instead, it results from an abnormality of the immune system that blocks insulin receptor function.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Progressive external ophthalmoplegia, autosomal recessive 1 ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Progressive external ophthalmoplegia, autosomal recessive 1 ? The Human Phenotype Ontology provides the following list of signs and symptoms for Progressive external ophthalmoplegia, autosomal recessive 1 . If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Adult onset 75% Cardiomyopathy 7.5% Dyschromatopsia 5% Optic atrophy 5% Visual impairment 5% Areflexia - Autosomal recessive inheritance - Bradykinesia - Decreased activity of cytochrome C oxidase in muscle tissue - Depression - Distal muscle weakness - Dysarthria - Dysphagia - Dysphonia - Elevated serum creatine phosphokinase - EMG: myopathic abnormalities - Emotional lability - Exercise intolerance - Facial palsy - Gait ataxia - Generalized amyotrophy - Hyporeflexia - Impaired distal proprioception - Impaired distal vibration sensation - Increased CSF protein - Increased variability in muscle fiber diameter - Limb ataxia - Mildly elevated creatine phosphokinase - Mitochondrial myopathy - Mitral regurgitation - Mitral valve prolapse - Multiple mitochondrial DNA deletions - Muscle fiber necrosis - Parkinsonism - Pes cavus - Phenotypic variability - Positive Romberg sign - Progressive external ophthalmoplegia - Proximal muscle weakness - Ptosis - Ragged-red muscle fibers - Respiratory insufficiency due to muscle weakness - Rigidity - Sensory ataxic neuropathy - Sensory axonal neuropathy - Steppage gait - Subsarcolemmal accumulations of abnormally shaped mitochondria - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Apert syndrome ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of Apert syndrome: - Gene Review: Gene Review: FGFR-Related Craniosynostosis Syndromes - Genetic Testing Registry: Acrocephalosyndactyly type I - MedlinePlus Encyclopedia: Apert syndrome - MedlinePlus Encyclopedia: Webbing of the fingers or toes These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is isovaleric acidemia inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by Irritable Bowel Syndrome in Children ?"}, {"role": "assistant", "content": "Limited information is available about the number of children with IBS. Older studies have reported prevalence rates for recurrent abdominal pain in children of 10 to 20 percent.1 However, these studies did not differentiate IBS from functional abdominal pain, indigestion, and abdominal migraine. One study of children in North America found that 14 percent of high school students and 6 percent of middle school students have IBS. The study also found that IBS affects boys and girls equally.2", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is juvenile polyposis syndrome inherited ?"}, {"role": "assistant", "content": "Juvenile polyposis syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In approximately 75 percent of cases, an affected person inherits the mutation from one affected parent. The remaining 25 percent of cases result from new mutations in the gene and occur in people with no history of the disorder in their family.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Pfeiffer syndrome ?"}, {"role": "assistant", "content": "Pfeiffer syndrome is a genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. Pfeiffer syndrome also affects bones in the hands and feet. Many of the characteristic facial features of Pfeiffer syndrome result from premature fusion of the skull bones. Abnormal growth of these bones leads to bulging and wide-set eyes, a high forehead, an underdeveloped upper jaw, and a beaked nose. More than half of all children with Pfeiffer syndrome have hearing loss; dental problems are also common. In people with Pfeiffer syndrome, the thumbs and first (big) toes are wide and bend away from the other digits. Unusually short fingers and toes (brachydactyly) are also common, and there may be some webbing or fusion between the digits (syndactyly). Pfeiffer syndrome is divided into three subtypes. Type 1, also known as classic Pfeiffer syndrome, has symptoms as described above. Most individuals with type 1 Pfeiffer syndrome have normal intelligence and a normal life span. Types 2 and 3 are more severe forms of Pfeiffer syndrome that often involve problems with the nervous system. The premature fusion of skull bones can limit brain growth, leading to delayed development and other neurological problems. Type 2 is distinguished from type 3 by the presence of a cloverleaf-shaped head, which is caused by more extensive fusion of bones in the skull.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What to do for What I need to know about Diarrhea ?"}, {"role": "assistant", "content": "- Diarrhea is frequent, loose, and watery bowel movements. - Acute diarrhea is a common problem. It usually lasts only 1 or 2 days, but it may last longer. - Being dehydrated means your body does not have enough fluid to work properly. Dehydration can be serious, especially for children, older adults, and people with weakened immune systems. - Diarrhea is treated by replacing lost fluids, salts, and minerals. - See your health care provider if you have signs of dehydration, diarrhea for more than 2 days, severe pain in your abdomen or rectum, a fever of 102 degrees or higher, stools containing blood or pus, or stools that are black and tarry. - Take your child to a health care provider right away if your child has signs of dehydration, diarrhea for more than 24 hours, a fever of 102 degrees or higher, stools containing blood or pus, or stools that are black and tarry. - Two types of diarrhea can be prevented rotavirus diarrhea and travelers diarrhea.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is benign recurrent intrahepatic cholestasis inherited ?"}, {"role": "assistant", "content": "Both types of BRIC are inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Some people with BRIC have no family history of the disorder. These cases arise from mutations in the ATP8B1 or ABCB11 gene that occur in the body's cells after conception and are not inherited.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Dystonia 11 ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Dystonia 11? The Human Phenotype Ontology provides the following list of signs and symptoms for Dystonia 11. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Muscular hypotonia 5% Agoraphobia - Anxiety - Autosomal dominant inheritance - Depression - Incomplete penetrance - Juvenile onset - Myoclonus - Obsessive-compulsive behavior - Torticollis - Tremor - Writer's cramp - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is the outlook for Spina Bifida ?"}, {"role": "assistant", "content": "The prognosis for individuals with SB depends on the number and severity of abnormalities. Prognosis is poorest for those with complete paralysis, hydrocephalus, and other congenital defects. With proper care, most children with SB live well into adulthood.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Kleefstra syndrome ?"}, {"role": "assistant", "content": "Kleefstra syndrome is a disorder that involves many parts of the body. Characteristic features of Kleefstra syndrome include developmental delay and intellectual disability, severely limited or absent speech, and weak muscle tone (hypotonia). Affected individuals also have an unusually small head size (microcephaly) and a wide, short skull (brachycephaly). Distinctive facial features include eyebrows that grow together in the middle (synophrys), widely spaced eyes (hypertelorism), a sunken appearance of the middle of the face (midface hypoplasia), nostrils that open to the front rather than downward (anteverted nares), a protruding jaw (prognathism), rolled out (everted) lips, and a large tongue (macroglossia). Affected individuals may have a high birth weight and childhood obesity. People with Kleefstra syndrome may also have structural brain abnormalities, congenital heart defects, genitourinary abnormalities, seizures, and a tendency to develop severe respiratory infections. During childhood they may exhibit features of autism or related developmental disorders affecting communication and social interaction. In adolescence, they may develop a general loss of interest and enthusiasm (apathy) or unresponsiveness (catatonia).", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to prevent Parasites - Trichuriasis (also known as Whipworm Infection) ?"}, {"role": "assistant", "content": "The best way to prevent whipworm infection is to always:\n \n - Avoid ingesting soil that may be contaminated with human feces, including where human fecal matter (\"night soil\") or wastewater is used to fertilize crops.\n - Wash your hands with soap and warm water before handling food.\n - Teach children the importance of washing hands to prevent infection.\n - Wash, peel, or cook all raw vegetables and fruits before eating, particularly those that have been grown in soil that has been fertilized with manure.\n \n \nMore on: Handwashing\n \nTransmission of infection to others can be prevented by\n \n - Not defecating outdoors.\n - Effective sewage disposal systems.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is malignant hyperthermia inherited ?"}, {"role": "assistant", "content": "Malignant hyperthermia susceptibility is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to increase the risk of a severe reaction to certain drugs used during surgery. In most cases, an affected person inherits the altered gene from a parent who is also at risk for the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Porphyria ?"}, {"role": "assistant", "content": "Porphyrias are a group of genetic disorders caused by problems with how your body makes a substance called heme. Heme is found throughout the body, especially in your blood and bone marrow, where it carries oxygen. There are two main types of porphyrias. One affects the skin and the other affects the nervous system. People with the skin type develop blisters, itching, and swelling of their skin when it is exposed to sunlight. The nervous system type is called acute porphyria. Symptoms include pain in the chest, abdomen, limbs, or back; muscle numbness, tingling, paralysis, or cramping; vomiting; constipation; and personality changes or mental disorders. These symptoms come and go. Certain triggers can cause an attack, including some medicines, smoking, drinking alcohol, infections, stress, and sun exposure. Attacks develop over hours or days. They can last for days or weeks. Porphyria can be hard to diagnose. It requires blood, urine, and stool tests. Each type of porphyria is treated differently. Treatment may involve avoiding triggers, receiving heme through a vein, taking medicines to relieve symptoms, or having blood drawn to reduce iron in the body. People who have severe attacks may need to be hospitalized. NIH: National Institute of Diabetes and Digestive and Kidney Diseases", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to Greig cephalopolysyndactyly syndrome ?"}, {"role": "assistant", "content": "Mutations in the GLI3 gene cause Greig cephalopolysyndactyly syndrome. The GLI3 gene provides instructions for making a protein that controls gene expression, which is a process that regulates whether genes are turned on or off in particular cells. By interacting with certain genes at specific times during development, the GLI3 protein plays a role in the normal shaping (patterning) of many organs and tissues before birth. Different genetic changes involving the GLI3 gene can cause Greig cephalopolysyndactyly syndrome. In some cases, the condition results from a chromosomal abnormalitysuch as a large deletion or rearrangement of genetic materialin the region of chromosome 7 that contains the GLI3 gene. In other cases, a mutation in the GLI3 gene itself is responsible for the disorder. Each of these genetic changes prevents one copy of the gene in each cell from producing any functional protein. It remains unclear how a reduced amount of this protein disrupts early development and causes the characteristic features of Greig cephalopolysyndactyly syndrome.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Chiari malformation type 3 ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Chiari malformation type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Chiari malformation type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Areflexia of upper limbs - Arnold-Chiari type I malformation - Autosomal dominant inheritance - Babinski sign - Basilar impression - Diplopia - Dysarthria - Dysphagia - Gait ataxia - Headache - Hearing impairment - Hyperacusis - Limb muscle weakness - Lower limb hyperreflexia - Lower limb spasticity - Nystagmus - Paresthesia - Photophobia - Scoliosis - Small flat posterior fossa - Syringomyelia - Tinnitus - Unsteady gait - Urinary incontinence - Vertigo - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose 47 XXX syndrome ?"}, {"role": "assistant", "content": "How is 47 XXX syndrome diagnosed? 47 XXX syndrome may first be suspected based on the presence of certain developmental, behavioral or learning disabilities in an individual. The diagnosis can be confirmed with chromosomal analysis (karyotyping), which can be performed on a blood sample. This test would reveal the presence of an extra X chromosome in body cells. 47 XXX syndrome may also be identified before birth (prenatally), based on chromosomal analysis performed on a sample taken during an amniocentesis or chorionic villus sampling (CVS) procedure. However, in these cases, confirmation testing with a test called FISH is recommended in order to evaluate the fetus for mosaicism (when only a percentage of the cells have the extra X chromosome).", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) tetra-amelia syndrome ?"}, {"role": "assistant", "content": "Tetra-amelia syndrome is a very rare disorder characterized by the absence of all four limbs. (\"Tetra\" is the Greek word for \"four,\" and \"amelia\" refers to the failure of an arm or leg to develop before birth.) This syndrome can also cause severe malformations of other parts of the body, including the face and head, heart, nervous system, skeleton, and genitalia. The lungs are underdeveloped in many cases, which makes breathing difficult or impossible. Because children with tetra-amelia syndrome have such serious medical problems, most are stillborn or die shortly after birth.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Platelet storage pool deficiency inherited ?"}, {"role": "assistant", "content": "Is platelet storage pool deficiency inherited? Platelet storage pool deficiency refers to a group of conditions that can be acquired (non-inherited) or inherited. Hereditary forms of the condition may be inherited in an autosomal dominant, autosomal recessive, or X-linked manner. In autosomal dominant conditions, one changed (mutated) copy of the responsible gene in each cell is enough to cause signs or symptoms of the condition. When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) risk to inherit the mutated copy of the gene from the affected parent. When a condition is inherited in an autosomal recessive manner, a person must have a change in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier. A condition is considered X-linked if the mutated gene that causes the condition is located on the X chromosome, one of the two sex chromosomes (the Y chromosome is the other sex chromosome). Women have two X chromosomes and men have an X and a Y chromosome. X-linked conditions can be X-linked dominant or X-linked recessive. The inheritance is X-linked dominant if one copy of the altered gene in each cell is sufficient to cause the condition. Women with an X-linked dominant condition have a 50% chance of passing the condition on to a son or a daughter with each pregnancy. Men with an X-linked dominant condition will pass the condition on to all of their daughters and none of their sons. The inheritance is X-linked recessive if a gene on the X chromosome causes the condition in men with one gene mutation (they have only one X chromosome) and in females with two gene mutations (they have two X chromosomes). A woman with an X-linked condition will pass the mutation on to all of her sons and daughters. This means that all of her sons will have the condition and all of her daughters will be carriers. A man with an X-linked recessive condition will pass the mutation to all of his daughters (carriers) and none of his sons.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Chromosome 8q24.3 deletion syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Chromosome 8q24.3 deletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Chromosome 8q24.3 deletion syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the cardiac septa - Autosomal dominant inheritance - Cerebral atrophy - Clinodactyly - Coloboma - Congenital onset - Feeding difficulties - Hemivertebrae - Hip dislocation - Long philtrum - Microcephaly - Narrow forehead - Phenotypic variability - Renal agenesis - Renal cyst - Renal hypoplasia - Scoliosis - Short 5th finger - Short neck - Short nose - Short stature - Vertebral fusion - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Who is at risk for Diabetes? ?"}, {"role": "assistant", "content": "Diabetes is a serious, life-long disease. It can lead to problems such as heart disease, stroke, vision loss, kidney disease, and nerve damage. More than 8 million people in the United States have type 2 diabetes and dont know it. Many people dont find out they have diabetes until they are faced with problems such as blurry vision or heart trouble. Certain factors can increase your risk for diabetes, and its important to know what they are. Type 1 Diabetes Type 1 diabetes is an autoimmune disease. In an autoimmune reaction, antibodies, or immune cells, attach to the bodys own healthy tissues by mistake, signaling the body to attack them. At present, scientists do not know exactly what causes the body's immune system to attack the cells, but many believe that both genetic factors and environmental factors, such as viruses, are involved. Studies are now underway to identify these factors and prevent type 1 diabetes in people at risk. Learn more about the causes of type 1 diabetes. Type 2 Diabetes Type 2 diabetes -- the most common form -- is linked closely to overweight and obesity, high blood pressure, and abnormal cholesterol levels. Many people with type 2 diabetes are overweight. Being overweight can keep your body from using insulin properly. Genes also play an important role in a person's risk for type 2 diabetes. Having certain genes or combinations of genes may increase or decrease a persons risk for developing the disease. Here are the risk factors for type 2 diabetes. - being over 45 years of age - being overweight or obese - having a first-degree relative -- a parent, brother, or sister -- with diabetes - being African American, American Indian or Alaska Native, Asian American or Pacific Islander, or Hispanic American/Latino. (Watch the video to learn more about native Americans and diabetes risk. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.) being over 45 years of age being overweight or obese having a first-degree relative -- a parent, brother, or sister -- with diabetes being African American, American Indian or Alaska Native, Asian American or Pacific Islander, or Hispanic American/Latino. (Watch the video to learn more about native Americans and diabetes risk. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.) - having gestational diabetes, or giving birth to at least one baby weighing more than 9 pounds - having blood pressure of 140/90 or higher, or having been told that you have high blood pressure. - having abnormal cholesterol levels -- an HDL cholesterol level of 35 or lower, or a triglyceride level of 250 or higher - being inactive or exercising fewer than three times a week. - having polycystic ovary syndrome, also called PCOS (women only) - on previous testing, having prediabetes (an A1C level of 5.7 to 6.4 percent), impaired glucose tolerance (IGT) or impaired fasting glucose (IFG) - history of cardiovascular disease (disease affecting the heart and blood vessels). having gestational diabetes, or giving birth to at least one baby weighing more than 9 pounds having blood pressure of 140/90 or higher, or having been told that you have high blood pressure. having abnormal cholesterol levels -- an HDL cholesterol level of 35 or lower, or a triglyceride level of 250 or higher being inactive or exercising fewer than three times a week. having polycystic ovary syndrome, also called PCOS (women only) on previous testing, having prediabetes (an A1C level of 5.7 to 6.4 percent), impaired glucose tolerance (IGT) or impaired fasting glucose (IFG) history of cardiovascular disease (disease affecting the heart and blood vessels). Learn more about the causes of type 2 diabetes. Prediabetes and Type 2 Diabetes Before people develop type 2 diabetes, they usually have prediabetes -- a condition in which blood glucose levels are higher than normal, but not high enough for a diagnosis of diabetes. People with prediabetes are more likely to develop diabetes within 10 years and also are more likely to have a heart attack or stroke. Prediabetes is increasingly common in the U.S. adult population. In 2012, about 86 million people in the U.S. had pre-diabetes, and 51% of those 65 or older had prediabetes. Learn more about prediabetes. Gestational Diabetes Some women develop diabetes during the late stages of pregnancy. This is called gestational diabetes. Although this form of diabetes usually goes away after the baby is born, a woman who has had it has a lifelong risk for developing diabetes, mostly type 2.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Williams syndrome inherited ?"}, {"role": "assistant", "content": "Is Williams syndrome inherited?", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Transposition of the great arteries ?"}, {"role": "assistant", "content": "What causes transposition of the great arteries (TGA)? The exact cause of TGA remains unknown. Some possible associated risk factors that have been proposed include gestational diabetes mellitus, maternal exposure to rodenticides and herbicides, and maternal use of anti-epileptic drugs. Changes (mutations) in specific genes including the GDF1, CFC1 and MED13L (also called THRAP2) genes have been implicated in only a small minority of TGA cases.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Skin Cancer ?"}, {"role": "assistant", "content": "Once cancer has been found, the doctor will need to determine the extent, or stage, of the cancer. Through staging, the doctor can tell if the cancer has spread and, if so, to what parts of the body. More tests may be performed to help determine the stage. Knowing the stage of the disease helps you and the doctor plan treatment. Staging will let the doctor know - the size of the tumor and exactly where it is - if the cancer has spread from the original tumor site - if cancer is present in nearby lymph nodes - if cancer is present in other parts of the body. the size of the tumor and exactly where it is if the cancer has spread from the original tumor site if cancer is present in nearby lymph nodes if cancer is present in other parts of the body. The choice of treatment is based on many factors, including the size of the tumor, its location in the layers of the skin, and whether it has spread to other parts of the body. For stage 0, I, II or III cancers, the main goals are to treat the cancer and reduce the risk of it returning. For stage IV cancer, the goal is to improve symptoms and prolong survival.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Transient neonatal diabetes mellitus ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Transient neonatal diabetes mellitus? The Human Phenotype Ontology provides the following list of signs and symptoms for Transient neonatal diabetes mellitus. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Type II diabetes mellitus 2/7 Autosomal dominant inheritance - Dehydration - Hyperglycemia - Intrauterine growth retardation - Severe failure to thrive - Transient neonatal diabetes mellitus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to bradyopsia ?"}, {"role": "assistant", "content": "Bradyopsia can be caused by mutations in the RGS9 gene or in the RGS9BP gene (which is also known as R9AP). These genes provide instructions for making proteins that are necessary for normal vision. The proteins are found in light-detecting cells in the eye called photoreceptors. When light enters the eye, it stimulates specialized pigments in these cells. This stimulation triggers a series of chemical reactions that produce an electrical signal, which is interpreted by the brain as vision. Once photoreceptors have been stimulated by light, they must return to their resting state before they can be stimulated again. The RGS9 and RGS9BP proteins play an essential role in returning photoreceptors to their resting state quickly after light exposure. Mutations in either the RGS9 or RGS9BP gene prevent photoreceptors from recovering quickly after responding to light. Normally they return to their resting state in a fraction of a second, but in people with mutations in one of these genes, it can take ten seconds or longer. During that time, the photoreceptors cannot respond to light. This delay causes temporary blindness in response to changing light conditions and interferes with seeing small objects when they are in motion. In some people with bradyopsia, no mutations in the RGS9 or RGS9BP gene have been found. The cause of the condition in these individuals is unknown.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Hypolipoproteinemia ?"}, {"role": "assistant", "content": "Hypolipoproteinemia refers to unusually low levels of fats (lipids) in the blood. Low lipid levels may be caused by rare genetic conditions, or be a sign of another disorder such as overactive thyroid, anemia, undernutrition, cancer, chronic infection, or impaired absorption of foods from the digestive tract. Associated genetic disorders includes abetalipoproteinemia, hypobetalipoproteinemia, and chylomicron retention disease. Symptoms of the genetic or familial form of hypolipoproteinemia varies. In hypobetalipoproteinemia the low density lipoprotein (LDL) cholesterol levels are very low, yet people with this syndrome typically have no symptoms nor require treatment. Other forms result in absent or near absent LDL levels and can cause serious symptoms in infancy and early childhood.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to fibrodysplasia ossificans progressiva ?"}, {"role": "assistant", "content": "Mutations in the ACVR1 gene cause fibrodysplasia ossificans progressiva. The ACVR1 gene provides instructions for producing a member of a protein family called bone morphogenetic protein (BMP) type I receptors. The ACVR1 protein is found in many tissues of the body including skeletal muscle and cartilage. It helps to control the growth and development of the bones and muscles, including the gradual replacement of cartilage by bone (ossification) that occurs in normal skeletal maturation from birth to young adulthood. Researchers believe that a mutation in the ACVR1 gene may change the shape of the receptor under certain conditions and disrupt mechanisms that control the receptor's activity. As a result, the receptor may be constantly turned on (constitutive activation). Constitutive activation of the receptor causes overgrowth of bone and cartilage and fusion of joints, resulting in the signs and symptoms of fibrodysplasia ossificans progressiva.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for familial porencephaly ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of familial porencephaly: - Gene Review: Gene Review: COL4A1-Related Disorders - Genetic Testing Registry: Familial porencephaly These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is 3-hydroxyacyl-CoA dehydrogenase deficiency inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) 7q11.23 duplication syndrome ?"}, {"role": "assistant", "content": "7q11.23 duplication syndrome is a condition that can cause a variety of neurological and behavioral problems as well as other abnormalities. People with 7q11.23 duplication syndrome typically have delayed development of speech and delayed motor skills such as crawling and walking. Speech problems and abnormalities in the way affected individuals walk and stand may persist throughout life. Affected individuals may also have weak muscle tone (hypotonia) and abnormal movements, such as involuntary movements of one side of the body that mirror intentional movements of the other side. Behavioral problems associated with this condition include anxiety disorders (such as social phobias and selective mutism, which is an inability to speak in certain circumstances), attention deficit hyperactivity disorder (ADHD), physical aggression, excessively defiant behavior (oppositional disorder), and autistic behaviors that affect communication and social interaction. While the majority of people with 7q11.23 duplication syndrome have low-average to average intelligence, intellectual development varies widely in this condition, from intellectual disability to, rarely, above-average intelligence. About one-fifth of people with 7q11.23 duplication syndrome experience seizures. About half of individuals with 7q11.23 duplication syndrome have enlargement (dilatation) of the blood vessel that carries blood from the heart to the rest of the body (the aorta); this enlargement can get worse over time. Aortic dilatation can lead to life-threatening complications if the wall of the aorta separates into layers (aortic dissection) or breaks open (ruptures). The characteristic appearance of people with 7q11.23 duplication syndrome can include a large head (macrocephaly) that is flattened in the back (brachycephaly), a broad forehead, straight eyebrows, and deep-set eyes with long eyelashes. The nose may be broad at the tip with the area separating the nostrils attaching lower than usual on the face (low insertion of the columella), resulting in a shortened area between the nose and the upper lip (philtrum). A high arch in the roof of the mouth (high-arched palate) and ear abnormalities may also occur in affected individuals.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to hereditary leiomyomatosis and renal cell cancer ?"}, {"role": "assistant", "content": "Mutations in the FH gene cause hereditary leiomyomatosis and renal cell cancer. The FH gene provides instructions for making an enzyme called fumarase (also known as fumarate hydratase). This enzyme participates in an important series of reactions known as the citric acid cycle or Krebs cycle, which allows cells to use oxygen and generate energy. Specifically, fumarase helps convert a molecule called fumarate to a molecule called malate. People with HLRCC are born with one mutated copy of the FH gene in each cell. The second copy of the FH gene in certain cells may also acquire mutations as a result of environmental factors such as ultraviolet radiation from the sun or a mistake that occurs as DNA copies itself during cell division. FH gene mutations may interfere with the enzyme's role in the citric acid cycle, resulting in a buildup of fumarate. Researchers believe that the excess fumarate may interfere with the regulation of oxygen levels in the cell. Chronic oxygen deficiency (hypoxia) in cells with two mutated copies of the FH gene may encourage tumor formation and result in the tendency to develop leiomyomas and renal cell cancer.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to Bowen-Conradi syndrome ?"}, {"role": "assistant", "content": "Bowen-Conradi syndrome is caused by a mutation in the EMG1 gene. This gene provides instructions for making a protein that is involved in the production of cellular structures called ribosomes, which process the cell's genetic instructions to create new proteins. Ribosomes are assembled in a cell compartment called the nucleolus. The particular EMG1 gene mutation known to cause Bowen-Conradi syndrome is thought to make the protein unstable, resulting in a decrease in the amount of EMG1 protein that is available in the nucleolus. A shortage of this protein in the nucleolus would impair ribosome production, which may reduce cell growth and division (proliferation); however, it is unknown how EMG1 gene mutations lead to the particular signs and symptoms of Bowen-Conradi syndrome.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of 5q- syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of 5q- syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for 5q- syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of cells of the megakaryocyte lineage - Autosomal dominant contiguous gene syndrome - Erythroid hypoplasia - Myelodysplasia - Refractory macrocytic anemia - Somatic mutation - Sporadic - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Pontocerebellar hypoplasia type 6 ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Pontocerebellar hypoplasia type 6? The Human Phenotype Ontology provides the following list of signs and symptoms for Pontocerebellar hypoplasia type 6. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Apnea - Autosomal recessive inheritance - Cerebellar atrophy - Cerebellar hypoplasia - Cerebral atrophy - Congenital onset - Death in childhood - Deeply set eye - Failure to thrive - Hyperreflexia - Increased CSF lactate - Increased serum lactate - Lower limb spasticity - Muscular hypotonia - Narrow forehead - Narrow palate - Poor head control - Poor suck - Progressive - Progressive microcephaly - Prominent nasal bridge - Seizures - Upper limb spasticity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Kufs disease inherited ?"}, {"role": "assistant", "content": "Kufs disease type A, caused by mutations in the CLN6 or PPT1 gene, has an autosomal recessive pattern of inheritance. Autosomal recessive inheritance means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Kufs disease type B, caused by mutations in the DNAJC5 or CTSF gene, has an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases of Kufs disease type B occur in people with no history of the disorder in their family.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Postural orthostatic tachycardia syndrome ?"}, {"role": "assistant", "content": "What causes postural orthostatic tachycardia syndrome? The underlying cause of postural orthostatic tachycardia syndrome (POTS) is poorly understood. However, episodes often begin after a pregnancy, major surgery, trauma, or a viral illness and may increase right before a menstrual period. Many researchers suspect that there may be more than one cause for the condition. The following abnormalities can be associated with POTS and may play a role in the development of the condition: Peripheral denervation - reduced nerve stimulation to certain muscles. The lower extremities are generally most affected in people with POTS. Hypovolemia - an abnormal decrease or redistribution of blood in the body Changes in venous function - more specifically, a reduction in the volume of blood that returns to the heart (venous return) when moving from a lying down to a standing position Cardiovascular deconditioning - changes in cardiovascular function Baroreflex abnormalities - the baroreflexes play an important role in blood pressure regulation. When they sense a change in blood pressure, the heart rate is adjusted and the sympathetic nerve system fibers are activated to cause the blood vessels to narrow. Increased activity of the sympathetic nervous system Although most cases of POTS appear to occur sporadically in people with no family history of the condition, some affected people report a family history of orthostatic intolerance (an excessively reduced volume of blood returns to the heart when moving from a lying down to a standing position). This suggests that genetic factors may play a role in the development of POTS in some cases. Some studies also suggest that polymorphisms in certain genes (NOS3, ADRB2) may be associated with an increased risk of developing the condition and a change (mutation) in the norepinephrine transporter gene (SLC6A2) has been identified in one family with POTS.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Vesicoureteral Reflux ?"}, {"role": "assistant", "content": "The standard treatment for primary VUR has included prompt treatment of UTIs and long-term use of antibiotics to prevent UTIs, also called antimicrobial prophylaxis, until VUR goes away on its own. Antibiotics are bacteria-fighting medications. Surgery has also been used in certain cases.\n \nSeveral studies have raised questions about long-term use of antibiotics for prevention of UTIs. The studies found little or no effect on prevention of kidney damage. Long-term use may also make the child resistant to the antibiotic, meaning the medication does not work as well, and the child may be sicker longer and may need to take medications that are even stronger.\n \n- children younger than 1 year of age continuous antibiotics should be used if a child has a history of febrile UTI or VUR grade III through V that was identified through screening - children older than 1 year of age with BBDcontinuous antibiotics should be used while BBD is being treated - children older than 1 year of age without BBDcontinuous antibiotics can be used at the discretion of the health care provider but is not automatically recommended; however, UTIs should be promptly treated\n \nDeflux, a gellike liquid containing complex sugars, is an alternative to surgery for treatment of VUR. A small amount of Deflux is injected into the bladder wall near the opening of the ureter. This injection creates a bulge in the tissue that makes it harder for urine to flow back up the ureter. The health care provider uses a special tube to see inside the bladder during the procedure. Deflux injection is an outpatient procedure done under general anesthesia, so the child can go home the same day.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "what research (or clinical trials) is being done for Leukemia ?"}, {"role": "assistant", "content": "Clinical trials are research studies in which new treatments -- drugs, diagnostics, procedures, vaccines, and other therapies -- are tested in people to see if they are safe, effective, and better than the current standard of care. Clinical trials often compare a new treatment with a standard treatment to determine which one gives better results. People with leukemia who are interested in taking part in a clinical trial should contact their doctor or go to www.clinical trials.gov and search \"leukemia.\"", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Heart Failure ?"}, {"role": "assistant", "content": "Lifestyle changes to treat heart failure may include - reducing salt and fluid intake - following a heart healthy diet - adopting a plan to lose weight - quitting smoking - engaging in physical activity. reducing salt and fluid intake following a heart healthy diet adopting a plan to lose weight quitting smoking engaging in physical activity.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Trigeminal Trophic Syndrome ?"}, {"role": "assistant", "content": "Trigeminal trophic syndrome is a rare disease that affects the skin on the side of the nose, supplied by the trigeminal nerve. People with trigeminal trophic syndrome have a loss of sensation in the nose or abnormal sensations like tingling, numbness, or burning and they rub or scratch the skin causing cuts or ulcers in the area. When the cuts heal, they can cause scars that pull up the lip. Similar cuts may also occur in the corners of the eyes, scalp or inside the mouth. The tip of the nose is spared because its sensation comes from a different nerve. Trigeminal trophic syndrome may occur in people who were treated for trigeminal neuralgia or after leprosy (Hansen's disease) or shingles infection. Treatment options include medications, radiotherapy, and covering the wounds until they have fully healed. Another treatment option is a technique called transcutaneous electrical stimulation that uses a small electronic device to direct mild electric pulses to nerve endings that lie beneath the skin.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Proctitis ?"}, {"role": "assistant", "content": "Tenesmusan uncomfortable and frequent urge to have a bowel movementis one of the most common symptoms of proctitis. Other symptoms may include\n \n- bloody bowel movements - rectal bleeding - a feeling of rectal fullness - anal or rectal pain - crampy abdominal pain - rectal discharge of mucus or pus - diarrhea or frequent passage of loose or liquid stools", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Monoclonal gammopathy of undetermined significance ?"}, {"role": "assistant", "content": "Monoclonal gammopathy of undetermined significance (MGUS) is a condition in which an abnormal protein called monoclonal protein is detected in the blood. MGUS typically does not cause any problems, although some affected people may experience numbness, tingling or weakness. In some cases, MGUS may progress over time to certain forms of blood cancer (such as multiple myeloma, macroglobulinemia, or B-cell lymphoma). MGUS is thought to be a multifactorial condition that is likely associated with the effects of multiple genes in combination with lifestyle and environmental factors. People with MGUS are usually monitored closely to ensure that the levels of monoclonal protein do not rise and other problems do not develop. Those with stable levels of monoclonal protein typically do not require treatment.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for ankylosing spondylitis ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of ankylosing spondylitis: - Genetic Testing Registry: Ankylosing spondylitis - MedlinePlus Encyclopedia: Ankylosing Spondylitis - MedlinePlus Encyclopedia: HLA-B27 Antigen These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Achalasia ?"}, {"role": "assistant", "content": "What are the signs and symptoms of achalasia? Most people with achalasia experience difficulty swallowing, also known as dysphagia and heartburn. Other symptoms might include: regurgitation or vomiting, noncardiac chest pain, odynophagia (painful swallowing), and pain in the upper central region of the abdomen. Non esophageal symptoms might include: coughing or asthma, chronic aspiration (breathing a foreign object such as food into the airway), hoarseness or sore throat, and unintentional weight loss.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to alpha thalassemia ?"}, {"role": "assistant", "content": "Alpha thalassemia typically results from deletions involving the HBA1 and HBA2 genes. Both of these genes provide instructions for making a protein called alpha-globin, which is a component (subunit) of hemoglobin. People have two copies of the HBA1 gene and two copies of the HBA2 gene in each cell. Each copy is called an allele. For each gene, one allele is inherited from a person's father, and the other is inherited from a person's mother. As a result, there are four alleles that produce alpha-globin. The different types of alpha thalassemia result from the loss of some or all of these alleles. Hb Bart syndrome, the most severe form of alpha thalassemia, results from the loss of all four alpha-globin alleles. HbH disease is caused by a loss of three of the four alpha-globin alleles. In these two conditions, a shortage of alpha-globin prevents cells from making normal hemoglobin. Instead, cells produce abnormal forms of hemoglobin called hemoglobin Bart (Hb Bart) or hemoglobin H (HbH). These abnormal hemoglobin molecules cannot effectively carry oxygen to the body's tissues. The substitution of Hb Bart or HbH for normal hemoglobin causes anemia and the other serious health problems associated with alpha thalassemia. Two additional variants of alpha thalassemia are related to a reduced amount of alpha-globin. Because cells still produce some normal hemoglobin, these variants tend to cause few or no health problems. A loss of two of the four alpha-globin alleles results in alpha thalassemia trait. People with alpha thalassemia trait may have unusually small, pale red blood cells and mild anemia. A loss of one alpha-globin allele is found in alpha thalassemia silent carriers. These individuals typically have no thalassemia-related signs or symptoms.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Am I at Risk for Type 2 Diabetes? Taking Steps to Lower Your Risk of Getting Diabetes ?"}, {"role": "assistant", "content": "Type 2 diabetes, formerly called adult-onset diabetes, is the most common type of diabetes. About 95 percent of people with diabetes have type 2. People can develop type 2 diabetes at any age, even during childhood. However, this type of diabetes develops most often in middle-aged and older people. People who are overweight and inactive are also more likely to develop type 2 diabetes.\n \nIn type 2 and other types of diabetes, you have too much glucose, also called sugar, in your blood. People with diabetes have problems converting food to energy. After a meal, food is broken down into glucose, which is carried by your blood to cells throughout your body. With the help of the hormone insulin, cells absorb glucose from your blood and use it for energy. Insulin is made in the pancreas, an organ located behind the stomach.\n \nType 2 diabetes usually begins with insulin resistance, a condition linked to excess weight in which your bodys cells do not use insulin properly. As a result, your body needs more insulin to help glucose enter cells. At first, your pancreas keeps up with the added demand by producing more insulin. But in time, your pancreas loses its ability to produce enough insulin, and blood glucose levels rise.\n \nOver time, high blood glucose damages nerves and blood vessels, leading to problems such as heart disease, stroke, kidney disease, blindness, dental disease, and amputations. Other problems of diabetes may include increased risk of getting other diseases, loss of mobility with aging, depression, and pregnancy problems.\n \nTreatment includes taking diabetes medicines, making wise food choices, being physically active on a regular basis, controlling blood pressure and cholesterol, and for some, taking aspirin daily.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Psoriasis ?"}, {"role": "assistant", "content": "Psoriasis is a chronic skin disease. Chronic means that it lasts a long time, often a lifetime. Psoriasis affects more than 5 million adults in the United States. It appears about equally in males and females. Psoriasis occurs when the skin cells grow too quickly. The body does not shed these excess cells and they build up on the surface of the skin, forming thick, scaly patches.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) MYH7-related scapuloperoneal myopathy ?"}, {"role": "assistant", "content": "MYH7-related scapuloperoneal myopathy is an inherited muscular dystrophy characterized by weakness and wasting of the muscles in the lower legs and the area of the shoulder blades. In some individuals, facial muscles may also be affected. While the progression varies from case to case, it tends to be relatively slow. Some cases of scapuloperoneal myopathy are caused by mutations in the MYH7 gene. Autosomal dominant inheritance is suggested in these cases. Treatment is symptomatic and supportive.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Proud syndrome ?"}, {"role": "assistant", "content": "How might Proud syndrome be treated? The treatment of Proud syndrome is based on the signs and symptoms present in each person. For example, spasticity may be treated with a variety of therapies including medications and/or physical therapy. Medications may be prescribed to help prevent and/or control recurrent seizures. Surgery may be required to treat certain physical abnormalities such as kidney or genital issues. Children with severe intellectual disability may benefit from special education services. For personalized information about the treatment and management of Partington syndrome, please speak to a healthcare provider.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Langerhans cell histiocytosis ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of Langerhans cell histiocytosis: - Cincinnati Children's Hospital Medical Center - Cleveland Clinic - Genetic Testing Registry: Langerhans cell histiocytosis, multifocal - National Cancer Institute: Langerhans Cell Histiocytosis Treatment - Seattle Children's Hospital - St. Jude Children's Research Hospital - Sydney Children's Hospital These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Gum (Periodontal) Disease ?"}, {"role": "assistant", "content": "If your hands have become stiff because of arthritis or if you have a physical disability, you may find it difficult to use your toothbrush or dental floss. The following tips might make it easier for you to clean your teeth and gums. Make the toothbrush easier to hold. The same kind of Velcro strap used to hold food utensils is helpful for some people. Make the toothbrush handle bigger. You can cut a small slit in the side of a tennis ball and slide it onto the handle of the toothbrush. You can also buy a toothbrush with a large handle, or you can slide a bicycle grip onto the handle. Attaching foam tubing, available from home health care catalogs, is also helpful. Try other toothbrush options. A power toothbrush might make brushing easier. Some people may find that it takes time to get used to a power toothbrush. A floss holder can make it easier to hold the dental floss. Also, talk with your dentist about whether an oral irrigation system, special small brushes, or other instruments that clean between teeth are right for you. Be sure to check with your dentist, though, before using any of these methods since they may injure the gums if used improperly.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Preaxial deficiency, postaxial polydactyly and hypospadias ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Preaxial deficiency, postaxial polydactyly and hypospadias? The Human Phenotype Ontology provides the following list of signs and symptoms for Preaxial deficiency, postaxial polydactyly and hypospadias. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia of the thumb 90% Brachydactyly syndrome 90% Displacement of the external urethral meatus 90% Postaxial hand polydactyly 90% Short distal phalanx of finger 90% Short hallux 90% Aplastic/hypoplastic toenail 50% Clinodactyly of the 5th finger 50% Autosomal dominant inheritance - Glandular hypospadias - Short 2nd toe - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is aniridia inherited ?"}, {"role": "assistant", "content": "Aniridia is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In approximately two-thirds of cases, an affected person inherits the mutation from one affected parent. The remaining one-third of cases result from new mutations in the gene and occur in people with no history of the disorder in their family.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Charcot-Marie-Tooth disease type 1E ?"}, {"role": "assistant", "content": "Charcot-Marie-Tooth disease type 1E (CMT1E) is a form of Charcot-Marie-Tooth disease, which is a group of rare conditions that affect the peripheral nerves. Signs and symptoms of CMT1E generally become apparent between age 5 and 25 years, although the age of onset and disease severity can vary significantly from person to person. In general, CMT1E is associated with the typical features of Charcot-Marie-Tooth disease type 1 (progressive weakness of the feet and/or ankles; foot drop; atrophy of muscles below the knee; absent tendon reflexes of upper and lower extremities; and a decreased sensitivity to touch, heat, and cold in the feet and/or lower legs) in addition to hearing loss. CMT1E is caused by certain changes (mutations) in the PMP22 gene and is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is essential tremor inherited ?"}, {"role": "assistant", "content": "Essential tremor can be passed through generations in families, but the inheritance pattern varies. In most affected families, essential tremor appears to be inherited in an autosomal dominant pattern, which means one copy of an altered gene in each cell is sufficient to cause the disorder, although no genes that cause essential tremor have been identified. In other families, the inheritance pattern is unclear. Essential tremor may also appear in people with no history of the disorder in their family. In some families, some individuals have essential tremor while others have other movement disorders, such as involuntary muscle tensing (dystonia). The potential genetic connection between essential tremor and other movement disorders is an active area of research.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Who is at risk for High Blood Pressure? ?"}, {"role": "assistant", "content": "Not a Normal Part of Aging Nearly 1 in 3 American adults have high blood pressure. Many people get high blood pressure as they get older. However, getting high blood pressure is not a normal part of aging. There are things you can do to help keep your blood pressure normal, such as eating a healthy diet and getting more exercise. Risk Factors Anyone can develop high blood pressure. However, these factors can increase your risk for developing high blood pressure. - age - race or ethnicity - being overweight - gender - lifestyle habits - a family history of high blood pressure. age race or ethnicity being overweight gender lifestyle habits a family history of high blood pressure. Age Blood pressure tends to rise with age. In fact, about 65 percent of Americans age 60 or older have high blood pressure. Race/Ethnicity High blood pressure is more common in African American adults than in Caucasian or Hispanic American adults. Compared with these ethnic groups, African Americans - tend to get high blood pressure earlier in life - often have higher blood pressure numbers - are less likely to achieve target blood pressure goals with treatment. tend to get high blood pressure earlier in life often have higher blood pressure numbers are less likely to achieve target blood pressure goals with treatment. Overweight You are more likely to develop prehypertension or high blood pressure if youre overweight or obese. The terms overweight and obese refer to body weight thats greater than what is considered healthy for a certain height. Gender Before age 55, men are more likely than women to develop high blood pressure. After age 55, women are more likely than men to develop high blood pressure. Lifestyle Habits Unhealthy lifestyle habits can raise your risk for high blood pressure, and they include - eating too much sodium or too little potassium - lack of physical activity - drinking too much alcohol - smoking - stress. eating too much sodium or too little potassium lack of physical activity drinking too much alcohol smoking stress. Family History A family history of high blood pressure raises the risk of developing prehypertension or high blood pressure. Some people have a high sensitivity to sodium and salt, which may increase their risk for high blood pressure and may run in families. Genetic causes of this condition are why family history is a risk factor for this condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to nephronophthisis ?"}, {"role": "assistant", "content": "Nephronophthisis has several genetic causes, which are used to split the condition into distinct types. Nephronophthisis type 1, which is the most common type of the disorder and one cause of juvenile nephronophthisis, results from changes affecting the NPHP1 gene. The proteins produced from NPHP1 and the other genes involved in nephronophthisis are known or suspected to play roles in cell structures called cilia. Cilia are microscopic, finger-like projections that stick out from the surface of cells and are involved in chemical signaling. Cilia are important for the structure and function of many types of cells and tissues, including cells in the kidneys, liver, and brain and the light-sensitive tissue at the back of the eye (the retina). The genetic mutations involved in nephronophthisis are thought to impair the structure or function of cilia in some way, which likely disrupts important chemical signaling pathways during development. Although researchers believe that defective cilia lead to the features of nephronophthisis, the mechanism remains unclear. It is unknown why some people with mutations in nephronophthisis-associated genes have only kidney problems, while others develop additional signs and symptoms.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Maple syrup urine disease type 1A ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Maple syrup urine disease type 1A? The Human Phenotype Ontology provides the following list of signs and symptoms for Maple syrup urine disease type 1A. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Ataxia - Autosomal recessive inheritance - Cerebral edema - Coma - Elevated plasma branched chain amino acids - Feeding difficulties in infancy - Growth abnormality - Hypertonia - Hypoglycemia - Intellectual disability - Ketosis - Lactic acidosis - Lethargy - Vomiting - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Rabson-Mendenhall syndrome ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of Rabson-Mendenhall syndrome: - Genetic Testing Registry: Pineal hyperplasia AND diabetes mellitus syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Hearing Loss ?"}, {"role": "assistant", "content": "Hearing loss can result from taking certain medications. \"Ototoxic\" medications damage the inner ear, sometimes permanently. Check with your doctor if you notice a problem while taking a medication.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Urinary Incontinence in Children ?"}, {"role": "assistant", "content": "Most UI fades away naturally as a child grows and develops and does not require treatment. When treatment is needed, options include bladder training and related strategies, moisture alarms, and medications.\n \nGrowth and Development\n \nAs children mature\n \n- bladder capacity increases - natural body alarms become activated - an overactive bladder settles down - production of ADH becomes normal - response to the bodys signal that it is time to void improves\n \nBladder Training and Related Strategies\n \nBladder training consists of exercises to strengthen the bladder muscles to better control urination. Gradually lengthening the time between trips to the bathroom can also help by stretching the bladder so it can hold more urine. Additional techniques that may help control daytime UI include\n \n- urinating on a scheduletimed voidingsuch as every 2 hours - avoiding food or drinks with caffeine - following suggestions for healthy urination, such as relaxing muscles and taking enough time to allow the bladder to empty completely\n \nWaking children up to urinate can help decrease nighttime UI. Ensuring children drink enough fluids throughout the day so they do not drink a lot of fluids close to bedtime may also help. A health care provider can give guidance about how much a child needs to drink each day, as the amount depends on a childs age, physical activity, and other factors.\n \nMoisture Alarms\n \nAt night, moisture alarms can wake children when they begin to urinate. These devices use a water-sensitive pad connected to an alarm that sounds when moisture is first detected. A small pad can clip to the pajamas, or a larger pad can be placed on the bed. For the alarm to be effective, children must awaken as soon as the alarm goes off, stop the urine stream, and go to the bathroom. Children using moisture alarms may need to have someone sleep in the same room to help wake them up.\n \nMedications\n \nNighttime UI may be treated by increasing ADH levels. The hormone can be boosted by a synthetic version known as desmopressin (DDAVP), which is available in pill form, nasal spray, and nose drops. DDAVP is approved for use in children. Another medication, called imipramine (Tofranil), is also used to treat nighttime UI, though the way this medication prevents bedwetting is not known. Although both of these medications may help children achieve short-term success, relapse is common once the medication is withdrawn.\n \nUI resulting from an overactive bladder may be treated with oxybutynin (Ditropan), a medication that helps calm the bladder muscle and control muscle spasms.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Anxiety Disorders ?"}, {"role": "assistant", "content": "Most insurance plans, including health maintenance organizations (HMOs), will cover treatment for anxiety disorders. Check with your insurance company and find out. If you dont have insurance, the Health and Human Services division of your county government may offer mental health care at a public mental health center that charges people according to how much they are able to pay. If you are on public assistance, you may be able to get care through your state Medicaid plan. To learn about more mental health resources, see Help for Mental Illness, from the National Institute of Mental Health at NIH.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) inclusion body myopathy 2 ?"}, {"role": "assistant", "content": "Inclusion body myopathy 2 is a condition that primarily affects skeletal muscles, which are muscles that the body uses for movement. This disorder causes muscle weakness that appears in late adolescence or early adulthood and worsens over time. The first sign of inclusion body myopathy 2 is weakness of a muscle in the lower leg called the tibialis anterior. This muscle helps control up-and-down movement of the foot. Weakness in the tibialis anterior alters the way a person walks and makes it difficult to run and climb stairs. As the disorder progresses, weakness also develops in muscles of the upper legs, hips, shoulders, and hands. Unlike most forms of myopathy, inclusion body myopathy 2 usually does not affect the quadriceps, which are a group of large muscles at the front of the thigh. This condition also does not affect muscles of the eye or heart, and it does not cause neurological problems. Weakness in leg muscles makes walking increasingly difficult, and most people with inclusion body myopathy 2 require wheelchair assistance within 20 years after signs and symptoms appear. People with the characteristic features of inclusion body myopathy 2 have been described in several different populations. When the condition was first reported in Japanese families, researchers called it distal myopathy with rimmed vacuoles (DMRV) or Nonaka myopathy. When a similar disorder was discovered in Iranian Jewish families, researchers called it rimmed vacuole myopathy or hereditary inclusion body myopathy (HIBM). It has since become clear that these conditions are variations of a single disorder caused by mutations in the same gene.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Brown syndrome ?"}, {"role": "assistant", "content": "Brown syndrome is an eye disorder characterized by abnormalities in the eye's ability to move. Specifically, the ability to look up and in is affected by a problem in the superior oblique muscle/tendon. The condition may be present at birth (congenital) or it may develop following surgery or as a result of inflammation or a problem with development. Some cases are constant while other are intermittent. Treatment depends upon the cause and severity of the movement disorder. Options include close observation, nonsteroidal anti-inflammatory agents like Ibuprofen, corticosteroids, and surgery.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "how can botulism be treated?"}, {"role": "assistant", "content": "The respiratory failure and paralysis that occur with severe botulism may require a patient to be on a breathing machine (ventilator) for weeks or months, plus intensive medical and nursing care. The paralysis slowly improves. Botulism can be treated with an antitoxin which blocks the action of toxin circulating in the blood. Antitoxin for infants is available from the California Department of Public Health, and antitoxin for older children and adults is available through CDC.If given before paralysis is complete, antitoxin can prevent worsening and shorten recovery time. Physicians may try to remove contaminated food still in the gut by inducing vomiting or by using enemas. Wounds should be treated, usually surgically, to remove the source of the toxin-producing bacteria followed by administration of appropriate antibiotics. Good supportive care in a hospital is the mainstay of therapy for all forms of botulism.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Do you have information about Colonoscopy"}, {"role": "assistant", "content": "Summary : Colonoscopy and sigmoidoscopy are procedures that let your doctor look inside your large intestine. They use instruments called scopes. Scopes have a tiny camera attached to a long, thin tube. The procedures let your doctor see things such as inflamed tissue, abnormal growths, and ulcers. Colonoscopy checks your entire colon and rectum. Sigmoidoscopy checks the rectum and the lower colon only. Your doctor may recommend one of these procedures - To look for early signs of cancer in the colon and rectum. It may be part of a routine screening, which usually starts at age 50. - To look for causes of unexplained changes in bowel habits - To evaluate symptoms like abdominal pain, rectal bleeding, and weight loss Your doctor can also remove polyps from your colon during these procedures. You will get written bowel prep instructions to follow at home before the procedure. The bowel prep cleans out the intestine so your doctor can see everything clearly. During a colonoscopy, you get medicines to keep you relaxed. You usually do not need them for a sigmoidoscopy. NIH: National Institute of Diabetes and Digestive and Kidney Diseases", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is the outlook for Meningitis and Encephalitis ?"}, {"role": "assistant", "content": "The prognosis for for people with encephalitis or meningitis varies. Some cases are mild, short and relatively benign and individuals have full recovery, although the process may be slow. Individuals who experience mild symptoms may recover in 2-4 weeks. Other cases are severe, and permanent impairment or death is possible. The acute phase of encephalitis may last for 1 to 2 weeks, with gradual or sudden resolution of fever and neurological symptoms. Individuals treated for bacterial meningitis typically show some relief within 48-72 hours. Neurological symptoms may require many months before full recovery. With early diagnosis and prompt treatment, most individuals recover from meningitis. However, in some cases, the disease progresses so rapidly that death occurs during the first 48 hours, despite early treatment.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Diabetic Heart Disease ?"}, {"role": "assistant", "content": "If you have diabetes or pre-diabetes you have an increased risk for heart disease. Diabetic heart disease can be coronary heart disease (CHD), heart failure, and diabetic cardiomyopathy. Diabetes by itself puts you at risk for heart disease. Other risk factors include - Family history of heart disease - Carrying extra weight around the waist - Abnormal cholesterol levels - High blood pressure - Smoking Some people who have diabetic heart disease have no signs or symptoms of heart disease. Others have some or all of the symptoms of heart disease. Treatments include medications to treat heart damage or to lower your blood glucose (blood sugar), blood pressure, and cholesterol. If you are not already taking a low dose of aspirin every day, your doctor may suggest it. You also may need surgery or some other medical procedure. Lifestyle changes also help. These include a healthy diet, maintaining a healthy weight, being physically active, and quitting smoking. NIH: National Institute of Diabetes and Digestive and Kidney Diseases", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is the outlook for Non-Small Cell Lung Cancer ?"}, {"role": "assistant", "content": "Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - The stage of the cancer (the size of the tumor and whether it is in the lung only or has spread to other places in the body). - The type of lung cancer. - Whether the cancer has mutations (changes) in certain genes, such as the epidermal growth factor receptor (EGFR) gene or the anaplastic lymphoma kinase (ALK) gene. - Whether there are signs and symptoms such as coughing or trouble breathing. - The patients general health.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Adult Hodgkin Lymphoma ?"}, {"role": "assistant", "content": "Signs of adult Hodgkin lymphoma include swollen lymph nodes, fever, night sweats, and weight loss. These and other signs and symptoms may be caused by adult Hodgkin lymphoma or by other conditions. Check with your doctor if any of the following do not go away: - Painless, swollen lymph nodes in the neck, underarm, or groin. - Fever for no known reason. - Drenching night sweats. - Weight loss for no known reason. - Itchy skin. - Feeling very tired.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Pregnancy and Thyroid Disease ?"}, {"role": "assistant", "content": "The thyroid is a 2-inch-long, butterfly-shaped gland weighing less than 1 ounce. Located in the front of the neck below the larynx, or voice box, it has two lobes, one on either side of the windpipe. The thyroid is one of the glands that make up the endocrine system. The glands of the endocrine system produce, store, and release hormones into the bloodstream. The hormones then travel through the body and direct the activity of the bodys cells.\n \nThe thyroid gland makes two thyroid hormones, triiodothyronine (T3) and thyroxine (T4). T3 is the active hormone and is made from T4. Thyroid hormones affect metabolism, brain development, breathing, heart and nervous system functions, body temperature, muscle strength, skin dryness, menstrual cycles, weight, and cholesterol levels.\n \nThyroid hormone production is regulated by thyroid-stimulating hormone (TSH), which is made by the pituitary gland in the brain. When thyroid hormone levels in the blood are low, the pituitary releases more TSH. When thyroid hormone levels are high, the pituitary responds by decreasing TSH production.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Age-related Macular Degeneration ?"}, {"role": "assistant", "content": "The AREDS formulation is a combination of antioxidants and zinc that is named for a study conducted by The National Eye Institute called the Age-Related Eye Disease Study, or AREDS. This study found that taking a specific high-dose formulation of antioxidants and zinc significantly reduced the risk of advanced AMD and its associated vision loss. Slowing AMD's progression from the intermediate stage to the advanced stage will save many people's vision.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Temporomandibular Joint Dysfunction ?"}, {"role": "assistant", "content": "The temporomandibular joint (TMJ) connects your jaw to the side of your head. When it works well, it enables you to talk, chew, and yawn. For people with TMJ dysfunction, problems with the joint and muscles around it may cause - Pain that travels through the face, jaw, or neck - Stiff jaw muscles - Limited movement or locking of the jaw - Painful clicking or popping in the jaw - A change in the way the upper and lower teeth fit together Jaw pain may go away with little or no treatment. Treatment may include simple things you can do yourself, such as eating soft foods or applying ice packs. It may also include pain medicines or devices to insert in your mouth. In rare cases, you might need surgery. NIH: National Institute of Dental and Craniofacial Research", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Klver-Bucy Syndrome ?"}, {"role": "assistant", "content": "Klver-Bucy syndrome is a rare behavioral impairment that is associated with damage to both of the anterior temporal lobes of the brain. It causes individuals to put objects in their mouths and engage in inappropriate sexual behavior. Other symptoms may include visual agnosia (inability to visually recognize objects), loss of normal fear and anger responses, memory loss, distractibility, seizures, and dementia. The disorder may be associated with herpes encephalitis and trauma, which can result in brain damage.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Breast Cancer ?"}, {"role": "assistant", "content": "Hormonal therapy keeps cancer cells from getting the hormones they need to grow. This treatment may include the use of drugs that change the way hormones work. Sometimes it includes surgery to remove the ovaries, which make female hormones. Like chemotherapy, hormonal therapy can affect cancer cells throughout the body. Often, women with early-stage breast cancer and those with metastatic breast cancer -- meaning cancer that has spread to other parts of the body -- receive hormone therapy in the form of tamoxifen. Hormone therapy with tamoxifen or estrogens can act on cells all over the body. However, it may increase the chance of developing endometrial cancer. If you take tamoxifen, you should have a pelvic examination every year to look for any signs of cancer. A woman should report any vaginal bleeding, other than menstrual bleeding, to her doctor as soon as possible.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is the outlook for Parathyroid Cancer ?"}, {"role": "assistant", "content": "Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - Whether the calcium level in the blood can be controlled. - The stage of the cancer. - Whether the tumor and the capsule around the tumor can be completely removed by surgery. - The patient's general health.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Wagner syndrome ?"}, {"role": "assistant", "content": "Wagner syndrome is a hereditary disorder that causes progressive vision loss. The eye problems that lead to vision loss typically begin in childhood, although the vision impairment might not be immediately apparent. In people with Wagner syndrome, the light-sensitive tissue that lines the back of the eye (the retina) becomes thin and may separate from the back of the eye (retinal detachment). The blood vessels within the retina (known as the choroid) may also be abnormal. The retina and the choroid progressively break down (degenerate). Some people with Wagner syndrome have blurred vision because of ectopic fovea, an abnormality in which the part of the retina responsible for sharp central vision is out of place. Additionally, the thick, clear gel that fills the eyeball (the vitreous) becomes watery and thin. People with Wagner syndrome develop a clouding of the lens of the eye (cataract). Affected individuals may also experience nearsightedness (myopia), progressive night blindness, or a narrowing of their field of vision. Vision impairment in people with Wagner syndrome can vary from near normal vision to complete loss of vision in both eyes.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Familial avascular necrosis of the femoral head ?"}, {"role": "assistant", "content": "Avascular necrosis of the femoral head (ANFH) is a degenerative condition which causes the upper ends of the thigh bones (femurs) to break down due to an inadequate blood supply and deficient bone repair. It can lead to pain and limping and cause the legs to be of unequal length. The prevalence of ANFH is unknown but around 15,000 cases are reported each year in the United States, with most cases being associated with mechanical disruption (hip trauma or surgery), hypofibrinolysis (a reduced ability to dissolve clots), steroid use, smoking, alcohol intake, hemoglobinopathies and hyperlipidemia (an increase in the amount of fat - such as cholesterol and triglycerides - in the blood). Familial forms of ANFH appear to be very rare, with only a few families reported in the medical literature. Age of onset in these familial cases ranges from 15-48 years (as opposed to between 3rd to 5th decade of life for other forms of ANFH). Transmission in familial cases is autosomal dominant and mutations in the type II collagen gene (COL2A1) have been detected in affected family members.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for spinocerebellar ataxia type 36 ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of spinocerebellar ataxia type 36: - Ataxia Center at the University of Minnesota: Dominant Spinocerebellar Ataxias - Baylor College of Medicine: Parkinson's Disease Center and Movement Disorders Clinic: Ataxia - Gene Review: Gene Review: Spinocerebellar Ataxia Type 36 - Genetic Testing Registry: Spinocerebellar ataxia 36 - Johns Hopkins Medicine: Ataxia - The Ataxia Center at the University of Chicago: Autosomal Dominant Spinocerebellar Ataxia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Michelin tire baby syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Michelin tire baby syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Michelin tire baby syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cutis laxa 90% Edema 90% Sacrococcygeal pilonidal abnormality 90% Thickened skin 90% Cleft palate 50% Irregular hyperpigmentation 50% Abnormality of the musculature 7.5% Abnormality of the scrotum 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Cognitive impairment 7.5% Congestive heart failure 7.5% Cryptorchidism 7.5% Displacement of the external urethral meatus 7.5% Epicanthus 7.5% External ear malformation 7.5% Hypertrichosis 7.5% Long philtrum 7.5% Lower limb asymmetry 7.5% Low-set, posteriorly rotated ears 7.5% Microcephaly 7.5% Microcornea 7.5% Neoplasm of the nervous system 7.5% Retinopathy 7.5% Short stature 7.5% Umbilical hernia 7.5% Abnormality of cardiovascular system morphology - Abnormality of the skin - Autosomal dominant inheritance - Localized neuroblastoma - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for abetalipoproteinemia ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of abetalipoproteinemia: - Genetic Testing Registry: Abetalipoproteinaemia - MedlinePlus Encyclopedia: Bassen-Kornzweig syndrome - MedlinePlus Encyclopedia: Malabsorption - MedlinePlus Encyclopedia: Retinitis pigmentosa - MedlinePlus Encyclopedia: Stools - floating These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Androgen insensitivity syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Androgen insensitivity syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Androgen insensitivity syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair quantity 90% Abnormality of female internal genitalia 90% Cryptorchidism 90% Decreased fertility 90% Male pseudohermaphroditism 90% Hernia of the abdominal wall 50% Testicular neoplasm 7.5% Absent facial hair - Elevated follicle stimulating hormone - Elevated luteinizing hormone - Female external genitalia in individual with 46,XY karyotype - Growth abnormality - Gynecomastia - Inguinal hernia - Neoplasm - Primary amenorrhea - Sparse axillary hair - Sparse pubic hair - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Frontofacionasal dysplasia ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Frontofacionasal dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Frontofacionasal dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia involving the nose 90% Blepharophimosis 90% Broad forehead 90% Cleft eyelid 90% Depressed nasal bridge 90% Depressed nasal ridge 90% Facial cleft 90% Hypertelorism 90% Malar flattening 90% Non-midline cleft lip 90% Ptosis 90% Short nose 90% Short stature 90% Telecanthus 90% Abnormality of calvarial morphology 50% Abnormality of the eyelashes 50% Abnormality of the sense of smell 50% Aplasia/Hypoplasia of the eyebrow 50% Cleft palate 50% Encephalocele 50% Epibulbar dermoid 50% Facial asymmetry 50% Iris coloboma 50% Midline defect of the nose 50% Preauricular skin tag 50% Aplasia/Hypoplasia affecting the eye 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Cataract 7.5% Choanal atresia 7.5% Microcornea 7.5% Sacrococcygeal pilonidal abnormality 7.5% Absent inner eyelashes - Ankyloblepharon - Autosomal recessive inheritance - Bifid nose - Bifid uvula - Brachycephaly - Cranium bifidum occultum - Frontal cutaneous lipoma - Hypoplasia of midface - Hypoplasia of the frontal bone - Microphthalmia - Oral cleft - S-shaped palpebral fissures - Underdeveloped nasal alae - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Chiari Malformation ?"}, {"role": "assistant", "content": "Chiari malformations (CMs) are structural defects in the cerebellum. The cerebellum is the part of the brain that controls balance. With CM, brain tissue extends into the spinal canal. It can happen when part of the skull is too small, which pushes the brain tissue down. There are several types of CM. One type often happens in children who have neural tube defects. Some types cause no symptoms and don't need treatment. If you have symptoms, they may include - Neck pain - Balance problems - Numbness or other abnormal feelings in the arms or legs - Dizziness - Vision problems - Difficulty swallowing - Poor hand coordination Doctors diagnose CM using imaging tests. Medicines may ease some symptoms, such as pain. Surgery is the only treatment available to correct or stop the progression of nerve damage. NIH: National Institute of Neurological Disorders and Stroke", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Porphyria ?"}, {"role": "assistant", "content": "Heme is a red pigment composed of iron linked to a chemical called protoporphyrin. Heme has important functions in the body. The largest amounts of heme are in the form of hemoglobin, found in red blood cells and bone marrow. Hemoglobin carries oxygen from the lungs to all parts of the body. In the liver, heme is a component of proteins that break down hormones, medications, and other chemicals and keep liver cells functioning normally. Heme is an important part of nearly every cell in the body.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by adenylosuccinate lyase deficiency ?"}, {"role": "assistant", "content": "Adenylosuccinate lyase deficiency is a rare disorder; fewer than 100 cases have been reported. The condition is most common in the Netherlands and Belgium, but it has been found worldwide.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Creating a Family Health History ?"}, {"role": "assistant", "content": "In a genetic test, a small sample of blood, saliva, or tissue is taken to examine a person's genes. Sometimes, genetic testing can detect diseases that may be preventable or treatable. This type of testing is available for thousands of conditions.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Postural orthostatic tachycardia syndrome ?"}, {"role": "assistant", "content": "How is postural orthostatic tachycardia syndrome treated? Because postural orthostatic tachycardia syndrome (POTS) is thought to have a variety of causes, there is no single treatment that is effective for all people with the condition. In general, management of POTS aims to relieve low blood volume and/or regulate circulatory problems that could be causing the condition. In some affected people, simple life style interventions such as adding extra salt to the diet, ensuring adequate fluid intake, participating in a specialized exercise program, and avoiding factors that exacerbate the condition appear to improve symptoms. Certain medications have also been used to treat POTS with some success.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Miller Fisher Syndrome ?"}, {"role": "assistant", "content": "Treatment for Miller Fisher syndrome is identical to treatment for Guillain-Barr syndrome: intravenous immunoglobulin (IVIg) or plasmapheresis (a procedure in which antibodies are removed from the blood) and supportive care.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Vein of Galen aneurysm ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Vein of Galen aneurysm? The Human Phenotype Ontology provides the following list of signs and symptoms for Vein of Galen aneurysm. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the cerebral vasculature 90% Aneurysm 50% Peripheral arteriovenous fistula 50% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Hemochromatosis ?"}, {"role": "assistant", "content": "Health care providers treat hemochromatosis by drawing blood. This process is called phlebotomy. Phlebotomy rids the body of extra iron. This treatment is simple, inexpensive, and safe.\n \nBased on the severity of the iron overload, a patient will have phlebotomy to remove a pint of blood once or twice a week for several months to a year, and occasionally longer. Health care providers will test serum ferritin levels periodically to monitor iron levels. The goal is to bring serum ferritin levels to the low end of the average range and keep them there. Depending on the lab, the level is 25 to 50 g/L.\n \nAfter phlebotomy reduces serum ferritin levels to the desired level, patients may need maintenance phlebotomy treatment every few months. Some patients may need phlebotomies more often. Serum ferritin tests every 6 months or once a year will help determine how often a patient should have blood drawn. Many blood donation centers provide free phlebotomy treatment for people with hemochromatosis.\n \nTreating hemochromatosis before organs are damaged can prevent complications such as cirrhosis, heart problems, arthritis, and diabetes. Treatment cannot cure these conditions in patients who already have them at diagnosis. However, treatment will help most of these conditions improve. The treatments effectiveness depends on the degree of organ damage. For example, treating hemochromatosis can stop the progression of liver damage in its early stages and lead to a normal life expectancy. However, if a patient develops cirrhosis, his or her chance of developing liver cancer increases, even with phlebotomy treatment. Arthritis usually does not improve even after phlebotomy removes extra iron.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Hemangiopericytoma ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Hemangiopericytoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Hemangiopericytoma. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the cardiovascular system - Autosomal recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Thanatophoric dysplasia ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Thanatophoric dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Thanatophoric dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the femur 90% Abnormality of the metaphyses 90% Abnormality of the sacroiliac joint 90% Aplasia/Hypoplasia of the lungs 90% Bowing of the long bones 90% Brachydactyly syndrome 90% Cognitive impairment 90% Cutis laxa 90% Depressed nasal bridge 90% Increased nuchal translucency 90% Macrocephaly 90% Malar flattening 90% Micromelia 90% Muscular hypotonia 90% Narrow chest 90% Platyspondyly 90% Respiratory insufficiency 90% Short stature 90% Short thorax 90% Skeletal dysplasia 90% Small face 90% Split hand 90% Abnormality of neuronal migration 50% Frontal bossing 50% Hearing impairment 50% Intrauterine growth retardation 50% Kyphosis 50% Polyhydramnios 50% Proptosis 50% Ventriculomegaly 50% Abnormality of the kidney 7.5% Acanthosis nigricans 7.5% Atria septal defect 7.5% Cloverleaf skull 7.5% Hydrocephalus 7.5% Joint hypermobility 7.5% Limitation of joint mobility 7.5% Low-set, posteriorly rotated ears 7.5% Patent ductus arteriosus 7.5% Seizures 7.5% Autosomal dominant inheritance - Decreased fetal movement - Flared metaphysis - Heterotopia - Hypoplastic ilia - Intellectual disability, profound - Lethal short-limbed short stature - Metaphyseal irregularity - Neonatal death - Severe platyspondyly - Severe short stature - Short long bone - Short ribs - Short sacroiliac notch - Small abnormally formed scapulae - Small foramen magnum - Wide-cupped costochondral junctions - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Clouston syndrome ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of Clouston syndrome: - Gene Review: Gene Review: Hidrotic Ectodermal Dysplasia 2 - Genetic Testing Registry: Hidrotic ectodermal dysplasia syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for What I need to know about Hepatitis B ?"}, {"role": "assistant", "content": "Hepatitis B is not usually treated unless it becomes chronic. Chronic hepatitis B is treated with medicines that slow or stop the virus from damaging the liver.\n \nMedicines for Chronic Hepatitis B\n \nYour doctor will choose medicines or a combination of medicines that are likely to work for you. The doctor will closely watch your symptoms and schedule regular blood tests to make sure treatment is working.\n \nMedicines given by shots include\n \n- interferon - peginterferon\n \nMedicines taken by mouth include\n \n- adefovir - entecavir - lamivudine - telbivudine - tenofovir\n \nThe length of treatment varies. Talk with your doctor before taking other prescription medicines and over-the-counter medicines.\n \nLiver Transplant\n \nA liver transplant may be necessary if chronic hepatitis B causes severe liver damage that leads to liver failure. Symptoms of severe liver damage include the symptoms of hepatitis B and\n \n- generalized itching - a longer than usual amount of time for bleeding to stop - easy bruising - swollen stomach or ankles - spiderlike blood vessels, called spider angiomas, that develop on the skin\n \nLiver transplant is surgery to remove a diseased or injured liver and replace it with a healthy one from another person, called a donor. If your doctors tell you that you need a transplant, you should talk with them about the long-term demands of living with a liver transplant.\n \nA team of surgeonsdoctors who specialize in surgeryperforms a liver transplant in a hospital. You will learn how to take care of yourself after you go home and about the medicines youll need to take to protect your new liver. Medicines taken after liver transplant surgery can prevent hepatitis B from coming back.\n \nTesting for Liver Cancer\n \nHaving hepatitis B increases your risk for getting liver cancer, so your doctor may suggest an ultrasound test of the liver every 6 to 12 months. Finding cancer early makes it more treatable. Ultrasound is a machine that uses sound waves to create a picture of your liver. Ultrasound is performed at a hospital or radiology center by a specially trained technician. The image, called a sonogram, can show the livers size and the presence of cancerous tumors.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes National Hormone and Pituitary Program (NHPP): Information for People Treated with Pituitary Human Growth Hormone (Comprehensive Report) ?"}, {"role": "assistant", "content": "We have not found any particular preparation of pituitary hGH that is especially likely to carry CJD. We believe that CJD did not come from a single infected pituitary gland or preparation. Prior to 1977, in an effort to extract as much hormone as possible from the pituitary glands, the glands were often processed repeatedly. Hormone extracted from the same pituitaries was often included in many hormone preparations. Also, patients who got CJD were treated on average for 8.4 years and received many different hormone preparations. This makes it very difficult to identify any preparation associated with transmitting CJD.\n \nDoctors wanted to see if a specific preparation of pituitary hGH could transmit CJD. To try to find the pituitary hGH that could have caused CJD, HHS researchers did two things:\n \n1. They set up a test in animals, injecting samples of all available preparations of pituitary hGH directly into the brains of monkeys. CJD develops more rapidly if injected into the brain than under the skin, as hGH was used in people. The animals were watched for 10 years. The brains of all animals were examined for signs of CJD. If an animal got sick with CJD, it would help researchers to understand which vials of pituitary hGH were contaminated with the agent that causes CJD.\n \n2. They studied people treated with pituitary hGH to see who got CJD and which hormone preparation they might have received based on which preparations were sent to their doctor.\n \nResults:\n \n- The animal tests did not help find the pituitary hGH that might have caused CJD. One animal developed the disease 5 years after injection of pituitary hGH. Two other animals that received injections from different vials of the same pituitary hGH preparation did not develop CJD. - None of the people who developed CJD are known to have received the hormone preparation that made the animal sick. At most, two patients (whose records are incomplete) may have received this pituitary hGH preparation. Because of this, we do not believe that the patients who received the hormone preparation that transmitted CJD to the animal have a greater risk of developing CJD than others treated with pituitary hGH. Because each preparation of pituitary hGH was used to fill multiple vials, it is not known if CJD contamination was spread evenly among all vials of pituitary hGH that came from a particular preparation. It's possible that one vial got more contamination and another got little or none from the same preparation of pituitary hGH. It is believed that multiple preparations of pituitary hGH probably had very low levels of the CJD infectious agent. With such low levels of contamination, some vials of a preparation might carry CJD while other vials would not. Further, most of the people who got CJD received pituitary hGH for long periods of time and received many different preparations.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What to do for Irritable Bowel Syndrome in Children ?"}, {"role": "assistant", "content": "Large meals can cause cramping and diarrhea, so eating smaller meals more often, or eating smaller portions, may help IBS symptoms. Eating meals that are low in fat and high in carbohydrates, such as pasta, rice, whole-grain breads and cereals, fruits, and vegetables may help.\n \nCertain foods and drinks may cause IBS symptoms in some children, such as\n \n- foods high in fat - milk products - drinks with caffeine - drinks with large amounts of artificial sweeteners, which are substances used in place of sugar - foods that may cause gas, such as beans and cabbage\n \nChildren with IBS may want to limit or avoid these foods. Keeping a food diary is a good way to track which foods cause symptoms so they can be excluded from or reduced in the diet.\n \nDietary fiber may lessen constipation in children with IBS, but it may not help with lowering pain. Fiber helps keep stool soft so it moves smoothly through the colon. The Academy of Nutrition and Dietetics recommends children consume age plus 5 grams of fiber daily. A 7-year-old child, for example, should get 7 plus 5, or 12 grams, of fiber a day.3 Fiber may cause gas and trigger symptoms in some children with IBS. Increasing fiber intake by 2 to 3 grams per day may help reduce the risk of increased gas and bloating.\n \nMedications\n \nThe health care provider will select medications based on the childs symptoms. Caregivers should not give children any medications unless told to do so by a health care provider.\n \n- Fiber supplements. Fiber supplements may be recommended to relieve constipation when increasing dietary fiber is ineffective. - Laxatives. Constipation can be treated with laxative medications. Laxatives work in different ways, and a health care provider can provide information about which type is best. Caregivers should not give children laxatives unless told to do so by a health care provider. More information about different types of laxatives is provided in the NIDDK health topic, Constipation. - Antidiarrheals. Loperamide has been found to reduce diarrhea in children with IBS, though it does not reduce pain, bloating, or other symptoms. Loperamide reduces stool frequency and improves stool consistency by slowing the movement of stool through the colon. Medications to treat diarrhea in adults can be dangerous for infants and children and should only be given if told to do so by a health care provider. - Antispasmodics. Antispasmodics, such as hyoscine, cimetropium, and pinaverium, help to control colon muscle spasms and reduce abdominal pain. - Antidepressants. Tricyclic antidepressants and selective serotonin reuptake inhibitors in low doses can help relieve IBS symptoms including abdominal pain. These medications are thought to reduce the perception of pain, improve mood and sleep patterns, and adjust the activity of the GI tract.\n \nProbiotics\n \nProbiotics are live microorganisms, usually bacteria, that are similar to microorganisms normally found in the GI tract. Studies have found that probiotics, specifically Bifidobacteria and certain probiotic combinations, improve symptoms of IBS when taken in large enough amounts. But more research is needed. Probiotics can be found in dietary supplements, such as capsules, tablets, and powders, and in some foods, such as yogurt. A health care provider can give information about the right kind and right amount of probiotics to take to improve IBS symptoms. More information about probiotics can be found in the National Center for Complementary and Alternative Medicine fact sheet An Introduction to Probiotics.\n \nTherapies for Mental Health Problems\n \nThe following therapies can help improve IBS symptoms due to mental health problems:\n \n- Talk therapy. Talking with a therapist may reduce stress and improve IBS symptoms. Two types of talk therapy used to treat IBS are cognitive behavioral therapy and psychodynamic, or interpersonal, therapy. Cognitive behavioral therapy focuses on the childs thoughts and actions. Psychodynamic therapy focuses on how emotions affect IBS symptoms. This type of therapy often involves relaxation and stress management techniques. - Hypnotherapy. In hypnotherapy, the therapist uses hypnosis to help the child relax into a trancelike state. This type of therapy may help the child relax the muscles in the colon.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to cystic fibrosis ?"}, {"role": "assistant", "content": "Mutations in the CFTR gene cause cystic fibrosis. The CFTR gene provides instructions for making a channel that transports negatively charged particles called chloride ions into and out of cells. Chloride is a component of sodium chloride, a common salt found in sweat. Chloride also has important functions in cells; for example, the flow of chloride ions helps control the movement of water in tissues, which is necessary for the production of thin, freely flowing mucus. Mutations in the CFTR gene disrupt the function of the chloride channels, preventing them from regulating the flow of chloride ions and water across cell membranes. As a result, cells that line the passageways of the lungs, pancreas, and other organs produce mucus that is unusually thick and sticky. This mucus clogs the airways and various ducts, causing the characteristic signs and symptoms of cystic fibrosis. Other genetic and environmental factors likely influence the severity of the condition. For example, mutations in genes other than CFTR might help explain why some people with cystic fibrosis are more severely affected than others. Most of these genetic changes have not been identified, however.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Polyneuropathy mental retardation acromicria premature menopause ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Polyneuropathy mental retardation acromicria premature menopause? The Human Phenotype Ontology provides the following list of signs and symptoms for Polyneuropathy mental retardation acromicria premature menopause. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Brachydactyly syndrome 90% Cognitive impairment 90% Decreased nerve conduction velocity 90% EMG abnormality 90% Gait disturbance 90% Micromelia 90% Secondary amenorrhea 90% Short stature 90% Skeletal muscle atrophy 90% Camptodactyly of finger 50% Truncal obesity 50% Ulnar deviation of finger 50% Abnormality of pelvic girdle bone morphology 7.5% Arrhythmia 7.5% Furrowed tongue 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Apert syndrome inherited ?"}, {"role": "assistant", "content": "Apert syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Almost all cases of Apert syndrome result from new mutations in the gene, and occur in people with no history of the disorder in their family. Individuals with Apert syndrome, however, can pass along the condition to the next generation.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What to do for Hemochromatosis ?"}, {"role": "assistant", "content": "Iron is an essential nutrient found in many foods. Healthy people usually absorb less than 10 percent of iron in the food they eat.6 People with hemochromatosis absorb up to 30 percent of that iron.6 People with hemochromatosis can help prevent iron overload by\n \n- eating only moderate amounts of iron-rich foods, such as red meat and organ meat - avoiding supplements that contain iron - avoiding supplements that contain vitamin C, which increases iron absorption\n \nPeople with hemochromatosis can take steps to help prevent liver damage, including\n \n- limiting the amount of alcoholic beverages they drink because alcohol increases their chance of cirrhosis and liver cancer - avoiding alcoholic beverages entirely if they already have cirrhosis", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to adenylosuccinate lyase deficiency ?"}, {"role": "assistant", "content": "All forms of adenylosuccinate lyase deficiency are caused by mutations in the ADSL gene. This gene provides instructions for making an enzyme called adenylosuccinate lyase, which performs two steps in the process that produces purine nucleotides. These nucleotides are building blocks of DNA, its chemical cousin RNA, and molecules such as ATP that serve as energy sources in the cell. Adenylosuccinate lyase converts a molecule called succinylaminoimidazole carboxamide ribotide (SAICAR) to aminoimidazole carboxamide ribotide (AICAR) and converts succinyladenosine monophosphate (SAMP) to adenosine monophosphate (AMP). Most of the mutations involved in adenylosuccinate lyase deficiency change single protein building blocks (amino acids) in the adenylosuccinate lyase enzyme, which impairs its function. Reduced function of this enzyme leads to buildup of SAICAR and SAMP, which are converted through a different reaction to succinylaminoimidazole carboxamide riboside (SAICAr) and succinyladenosine (S-Ado). Researchers believe that SAICAr and S-Ado are toxic; damage to brain tissue caused by one or both of these substances likely underlies the neurological problems that occur in adenylosuccinate lyase deficiency. Studies suggest that the amount of SAICAr relative to S-Ado reflects the severity of adenylosuccinate lyase deficiency. Individuals with more SAICAr than S-Ado have more severe encephalopathy and psychomotor delay.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Primary gastrointestinal melanoma ?"}, {"role": "assistant", "content": "Primary melanoma of the gastrointestinal (GI) tract refers to a melanoma starting in the stomach, intestines, salivary glands, mouth, esophagus, liver, pancreas, gallbladder, or rectum. Melanoma is a disease in which malignant (cancer) cells form in the melanocytes. Melanocytes are commonly found in the skin and are the cells that give the skin color. While it is not uncommon for melanomas to start in the skin and later spread to other parts of the body, melanomas originating in the gastrointestinal tract are rare. The most frequently reported site is in the esophagus and anorectum.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Atrial Fibrillation ?"}, {"role": "assistant", "content": "Atrial fibrillation (AF) usually causes the heart's lower chambers, the ventricles, to contract faster than normal.\n \nWhen this happens, the ventricles can't completely fill with blood. Thus, they may not be able to pump enough blood to the lungs and body. This can lead to signs and symptoms, such as:\n \nPalpitations (feelings that your heart is skipping a beat, fluttering, or beating too hard or fast)\n \nShortness of breath\n \nWeakness or problems exercising\n \nChest pain\n \nDizziness or fainting\n \nFatigue (tiredness)\n \nConfusion\n \nAtrial Fibrillation Complications\n \nAF has two major complicationsstroke and heart failure.\n \nStroke\n \nDuring AF, the heart's upper chambers, the atria, don't pump all of their blood to the ventricles. Some blood pools in the atria. When this happens, a blood clot (also called a thrombus) can form.\n \nIf the clot breaks off and travels to the brain, it can cause a stroke. (A clot that forms in one part of the body and travels in the bloodstream to another part of the body is called an embolus.)\n \nBlood-thinning medicines that reduce the risk of stroke are an important part of treatment for people who have AF.\n \nAtrial Fibrillation and Stroke\n \n\n \nHeart Failure\n \nHeart failure occurs if the heart can't pump enough blood to meet the body's needs. AF can lead to heart failure because the ventricles are beating very fast and can't completely fill with blood. Thus, they may not be able to pump enough blood to the lungs and body.\n \nFatigue and shortness of breath are common symptoms of heart failure. A buildup of fluid in the lungs causes these symptoms. Fluid also can build up in the feet, ankles, and legs, causing weight gain.\n \nLifestyle changes, medicines, and procedures or surgery (rarely, a mechanical heart pump or heart transplant) are the main treatments for heart failure.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Human T-cell leukemia virus type 1 ?"}, {"role": "assistant", "content": "Human T-cell leukemia virus, type 1 (HTLV-1) is a retroviral infection that affect the T cells (a type of white blood cell). Although this virus generally causes no signs or symptoms, some affected people may later develop adult T-cell leukemia (ATL), HTLV-1 associated myelopathy/tropical spastic paraparesis (HAM/TSP) or other medical conditions. HTLV-1 is spread by blood transfusions, sexual contact and sharing needles. It can also be spread from mother to child during birth or breast-feeding. There is no cure or treatment for HTLV-1 and it is considered a lifelong condition; however, most (95%) infected people remain asymptomatic (show no symptoms) throughout life.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to prevent Problems with Smell ?"}, {"role": "assistant", "content": "Problems with smell that occur with aging are not preventable. However, you can protect yourself against other causes of smell loss with these steps. - Treat Sinus and Nasal Conditions. Swollen sinuses and nasal passages may cause total or partial loss of smell. Your doctor may prescribe an antibiotic or anti-inflammatory drug to reduce nasal swelling from chronic sinus infections, a major cause of smell loss. Treat Sinus and Nasal Conditions. Swollen sinuses and nasal passages may cause total or partial loss of smell. Your doctor may prescribe an antibiotic or anti-inflammatory drug to reduce nasal swelling from chronic sinus infections, a major cause of smell loss. - Prevent Upper Respiratory Infections. Colds and respiratory infections such as the flu can lead to smell disorders. Wash your hands frequently, especially during the winter months, and get a flu shot every year. For more information about the flu vaccine, visit Key Facts About Seasonal Flu Vaccine Prevent Upper Respiratory Infections. Colds and respiratory infections such as the flu can lead to smell disorders. Wash your hands frequently, especially during the winter months, and get a flu shot every year. For more information about the flu vaccine, visit Key Facts About Seasonal Flu Vaccine - Avoid Allergens. Keep away from allergens such as ragweed, grasses, and pet dander that can cause seasonal allergies or nasal congestion. Avoid Allergens. Keep away from allergens such as ragweed, grasses, and pet dander that can cause seasonal allergies or nasal congestion. - Avoid Head Injuries. Previous surgery or trauma to the head can impair your sense of smell because the olfactory nerves may be cut, blocked, or physically damaged. Always wear seatbelts when riding in a car and a helmet when bicycling. Avoid Head Injuries. Previous surgery or trauma to the head can impair your sense of smell because the olfactory nerves may be cut, blocked, or physically damaged. Always wear seatbelts when riding in a car and a helmet when bicycling. - Avoid Exposure to Toxic Chemicals. Avoid contact with chemicals that might cause smell problems such as paints, insecticides, and solvents, or wear a respirator if you cannot avoid contact. Avoid Exposure to Toxic Chemicals. Avoid contact with chemicals that might cause smell problems such as paints, insecticides, and solvents, or wear a respirator if you cannot avoid contact. - Review Your Medications. If you are taking medications such as antibiotics or antihistamines and notice a change in your sense of smell, talk to your doctor. You may be able to adjust or change your medicine to one that will not cause a problem with smell. Review Your Medications. If you are taking medications such as antibiotics or antihistamines and notice a change in your sense of smell, talk to your doctor. You may be able to adjust or change your medicine to one that will not cause a problem with smell. - Dont Smoke. It impairs the ability to identify and enjoy odors. For free help to quit smoking, visit www.Smokefree.gov Dont Smoke. It impairs the ability to identify and enjoy odors. For free help to quit smoking, visit www.Smokefree.gov - Treat Nasal Polyps If Necessary. If you have nasal polyps, having them removed may restore smell. Treat Nasal Polyps If Necessary. If you have nasal polyps, having them removed may restore smell. - Treat Other Conditions. If you have diabetes, thyroid abnormalities, certain vitamin deficiencies, or are malnourished and you experience a loss of smell or taste, tell your doctor. In some cases, when the condition that is causing the problem with smell is treated, the sense of smell returns. Treat Other Conditions. If you have diabetes, thyroid abnormalities, certain vitamin deficiencies, or are malnourished and you experience a loss of smell or taste, tell your doctor. In some cases, when the condition that is causing the problem with smell is treated, the sense of smell returns.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Dermal eccrine cylindroma ?"}, {"role": "assistant", "content": "Cylindromas are non-cancerous (benign) tumors that develop from the skin. They most commonly occur on the head and neck and rarely become cancerous (malignant). An individual can develop one or many cylindromas; if a person develops only one, the cylindroma likely occurred by chance and typically is not inherited. They usually begin to form during mid-adulthood as a slow-growing, rubbery nodule that causes no symptoms. The development of multiple cylindromas can be hereditary and is inherited in an autosomal dominant manner; this condition is called familial cylindromatosis. Individuals with the inherited form begin to develop many, rounded nodules of various size shortly after puberty. The tumors grow very slowly and increase in number over time.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Keratosis follicularis dwarfism and cerebral atrophy ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Keratosis follicularis dwarfism and cerebral atrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Keratosis follicularis dwarfism and cerebral atrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Alopecia 90% Cerebral cortical atrophy 90% Hyperkeratosis 90% Microcephaly 90% Short stature 90% Abnormality of the eyelashes 50% Aplasia/Hypoplasia of the eyebrow 50% Absent eyebrow - Absent eyelashes - Cerebral atrophy - Death in childhood - Generalized keratosis follicularis - Severe short stature - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to neurofibromatosis type 2 ?"}, {"role": "assistant", "content": "Mutations in the NF2 gene cause neurofibromatosis type 2. The NF2 gene provides instructions for making a protein called merlin (also known as schwannomin). This protein is produced in the nervous system, particularly in Schwann cells, which surround and insulate nerve cells (neurons) in the brain and spinal cord. Merlin acts as a tumor suppressor, which means that it keeps cells from growing and dividing too rapidly or in an uncontrolled way. Although its exact function is unknown, this protein is likely also involved in controlling cell movement, cell shape, and communication between cells. Mutations in the NF2 gene lead to the production of a nonfunctional version of the merlin protein that cannot regulate the growth and division of cells. Research suggests that the loss of merlin allows cells, especially Schwann cells, to multiply too frequently and form the tumors characteristic of neurofibromatosis type 2.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Benign schwannoma ?"}, {"role": "assistant", "content": "What causes schwannomas? The cause of schwannomas is unknown. They sometimes occur in people with certain disorders including some types of neurofibromatosis (neurofibromatosis type 2 and schwannomatosis). In these cases, affected people have multiple tumors that are due to changes (mutations) in a gene. For example, neurofibromatosis type 2 is caused by mutations in the NF2 gene and schwannomatosis is caused by mutations in the SMARCB1 gene and the LZTR1 gene.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Neurogenic diabetes insipidus ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Neurogenic diabetes insipidus? The Human Phenotype Ontology provides the following list of signs and symptoms for Neurogenic diabetes insipidus. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal renal physiology 90% Dehydration 90% Diabetes insipidus 90% Weight loss 90% Abnormality of temperature regulation 50% Behavioral abnormality 50% Migraine 50% Reduced consciousness/confusion 50% Diarrhea 7.5% Hypernatremia 7.5% Hyponatremia 7.5% Nausea and vomiting 7.5% Seizures 7.5% Abnormality of metabolism/homeostasis - Autosomal dominant inheritance - Gliosis - Hypertelorism - Long philtrum - Osteopenia - Short nose - Wide nose - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Peutz-Jeghers syndrome ?"}, {"role": "assistant", "content": "What causes Peutz-Jeghers syndrome? Peutz-Jeghers syndrome (PJS) is caused by changes (mutations) in the STK11 gene. STK11 is a tumor suppressor gene which means that it encodes a protein that helps keep cells from growing and dividing too rapidly or in an uncontrolled way. Mutations in STK11 result in a defective protein that is unable to carry out its normal role. This leads to the development of the polyps and tumors found in PJS. Some people with PJS do not have mutations in the STK11 gene. In these cases, the cause is unknown.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by juvenile primary osteoporosis ?"}, {"role": "assistant", "content": "The prevalence of juvenile primary osteoporosis is unknown. Nearly 1 in 10 adults over age 50 have osteoporosis, but the condition is uncommon in children. Osteoporosis can occur at a young age as a feature of other conditions but rarely occurs without other signs and symptoms (primary osteoporosis).", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Wilson disease ?"}, {"role": "assistant", "content": "How might Wilson disease be treated? There is currently no cure for Wilson disease; however, therapies exist that aim to reduce or control the amount of copper that accumulates in the body. Affected people require lifelong treatment, which may include certain medications and/or dietary modifications. If treatment is not effective or if liver failure develops, a liver transplant may be necessary. For more specific information on the treatment and management of Wilson disease, please visit the National Institute of Diabetes and Digestive and Kidney Disease's (NIDDK) website and/or GeneReviews. Click the link to view these resources.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Prevent diabetes problems: Keep your eyes healthy ?"}, {"role": "assistant", "content": "Often, no symptoms appear during the early stages of diabetes retina problems. As retina problems worsen, your symptoms might include\n \n- blurry or double vision - rings, flashing lights, or blank spots in your vision - dark or floating spots in your vision - pain or pressure in one or both of your eyes - trouble seeing things out of the corners of your eyes", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Ulcerative Colitis ?"}, {"role": "assistant", "content": "The large intestine is part of the GI tract, a series of hollow organs joined in a long, twisting tube from the mouth to the anusan opening through which stool leaves the body. The last part of the GI tract, called the lower GI tract, consists of the large intestinewhich includes the appendix, cecum, colon, and rectumand anus. The intestines are sometimes called the bowel.\n \nThe large intestine is about 5 feet long in adults and absorbs water and any remaining nutrients from partially digested food passed from the small intestine. The large intestine changes waste from liquid to a solid matter called stool. Stool passes from the colon to the rectum. The rectum is located between the lower, or sigmoid, colon and the anus. The rectum stores stool prior to a bowel movement, when stool moves from the rectum to the anus and out of a person's body.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by megalencephalic leukoencephalopathy with subcortical cysts ?"}, {"role": "assistant", "content": "Megalencephalic leukoencephalopathy with subcortical cysts is a rare condition; its exact prevalence is unknown. More than 150 cases have been reported in the scientific literature.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to prevent Parasites - Paragonimiasis (also known as Paragonimus Infection) ?"}, {"role": "assistant", "content": "Never eat raw freshwater crabs or crayfish. Cook crabs and crayfish for to at least 145\u00b0F (~63\u00b0C). Travelers should be advised to avoid traditional meals containing undercooked freshwater crustaceans.\n \nMore on: Fight BAC: Safe Food Handling", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Do you have information about Pregnancy"}, {"role": "assistant", "content": "Summary : So you're going to have a baby! Whether you are pregnant or are planning to get pregnant, you will want to give your baby a healthy start. You need to have regular visits with your healthcare provider. These prenatal care visits are very important for your baby and yourself. Some things you might do when you are pregnant could hurt your baby, such as smoking or drinking. Some medicines can also be a problem, even ones that a doctor prescribed. You will need to drink plenty of fluids and eat a healthy diet. You may also be tired and need more rest. Your body will change as your baby grows during the nine months of your pregnancy. Don't hesitate to call your health care provider if you think you have a problem or something is bothering or worrying you.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Dry Eye ?"}, {"role": "assistant", "content": "There are two types of dry eye: aqueous tear-deficient dry eye and evaporative dry eye. Aqueous tear-deficient dry eye is a disorder in which the tear glands do not produce enough of the watery component of tears to maintain a healthy eye surface, called the cornea. Evaporative dry eye may result from inflammation of the meibomian glands, located in the eyelids. These glands make the oily part of tears that slows evaporation and keeps the tears stable. Dry eye can be associated with - inflammation of the surface of the eye (cornea), the lacrimal gland, or the conjunctiva (the surface layer of tissue that lines the eyelids and covers the front part of the eye) - any disease process that alters the components of the tears - an increase in the surface of the eye, as in thyroid disease when the eye bulges forward - cosmetic surgery, if the eyelids are opened too widely. inflammation of the surface of the eye (cornea), the lacrimal gland, or the conjunctiva (the surface layer of tissue that lines the eyelids and covers the front part of the eye) any disease process that alters the components of the tears an increase in the surface of the eye, as in thyroid disease when the eye bulges forward cosmetic surgery, if the eyelids are opened too widely.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Emery-Dreifuss muscular dystrophy ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of Emery-Dreifuss muscular dystrophy: - Gene Review: Gene Review: Emery-Dreifuss Muscular Dystrophy - Genetic Testing Registry: Emery-Dreifuss muscular dystrophy - Genetic Testing Registry: Emery-Dreifuss muscular dystrophy 1, X-linked - MedlinePlus Encyclopedia: Arrhythmias - MedlinePlus Encyclopedia: Contracture deformity - MedlinePlus Encyclopedia: Muscular dystrophy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for familial isolated hyperparathyroidism ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of familial isolated hyperparathyroidism: - Cleveland Clinic: Hyperparathyroidism - Gene Review: Gene Review: CDC73-Related Disorders - Genetic Testing Registry: Hyperparathyroidism 1 - MedlinePlus Encyclopedia: Hyperparathyroidism These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) VLCAD deficiency ?"}, {"role": "assistant", "content": "VLCAD deficiency is a condition in which the body is unable to properly breakdown certain fats (called very long-chain fatty acids) into energy, particularly during periods without food (fasting). Signs and symptoms can occur during infancy, childhood or adulthood depending on the form of the condition and may include low blood sugar (hypoglycemia), lack of energy, and muscle weakness. Children affected by the most severe forms of the condition are also at risk of serious complications such as liver abnormalities and life-threatening heart problems. VLCAD deficiency is caused by changes (mutations) in the ACADVL gene and is inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Health Checkup ?"}, {"role": "assistant", "content": "Regular health exams and tests can help find problems before they start. They also can help find problems early, when your chances for treatment and cure are better. Which exams and screenings you need depends on your age, health and family history, and lifestyle choices such as what you eat, how active you are, and whether you smoke. To make the most of your next check-up, here are some things to do before you go: - Review your family health history - Find out if you are due for any general screenings or vaccinations - Write down a list of issues and questions to take with you Centers for Disease Control and Prevention", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the stages of Ovarian Epithelial, Fallopian Tube, and Primary Peritoneal Cancer ?"}, {"role": "assistant", "content": "Key Points\n - After ovarian, fallopian tube, or peritoneal cancer has been diagnosed, tests are done to find out if cancer cells have spread within the ovaries or to other parts of the body. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. - The following stages are used for ovarian epithelial, fallopian tube, and primary peritoneal cancer: - Stage I - Stage II - Stage III - Stage IV - Ovarian epithelial, fallopian tube, and primary peritoneal cancers are grouped for treatment as early or advanced cancer.\n \n \n After ovarian, fallopian tube, or peritoneal cancer has been diagnosed, tests are done to find out if cancer cells have spread within the ovaries or to other parts of the body.\n The process used to find out whether cancer has spread within the organ or to other parts of the body is called staging. The information gathered from the staging process determines the stage of the disease. It is important to know the stage in order to plan treatment. The results of the tests used to diagnose cancer are often also used to stage the disease. (See the General Information section.)\n \n \n There are three ways that cancer spreads in the body.\n Cancer can spread through tissue, the lymph system, and the blood: - Tissue. The cancer spreads from where it began by growing into nearby areas. - Lymph system. The cancer spreads from where it began by getting into the lymph system. The cancer travels through the lymph vessels to other parts of the body. - Blood. The cancer spreads from where it began by getting into the blood. The cancer travels through the blood vessels to other parts of the body.\n \n \n Cancer may spread from where it began to other parts of the body.\n When cancer spreads to another part of the body, it is called metastasis. Cancer cells break away from where they began (the primary tumor) and travel through the lymph system or blood. - Lymph system. The cancer gets into the lymph system, travels through the lymph vessels, and forms a tumor (metastatic tumor) in another part of the body. - Blood. The cancer gets into the blood, travels through the blood vessels, and forms a tumor (metastatic tumor) in another part of the body. The metastatic tumor is the same type of cancer as the primary tumor. For example, if ovarian epithelial cancer spreads to the lung, the cancer cells in the lung are actually ovarian epithelial cancer cells. The disease is metastatic ovarian epithelial cancer, not lung cancer.\n \n \n The following stages are used for ovarian epithelial, fallopian tube, and primary peritoneal cancer:\n Stage I In stage I, cancer is found in one or both ovaries or fallopian tubes. Stage I is divided into stage IA, stage IB, and stage IC. - Stage IA: Cancer is found inside a single ovary or fallopian tube. - Stage IB: Cancer is found inside both ovaries or fallopian tubes. - Stage IC: Cancer is found inside one or both ovaries or fallopian tubes and one of the following is true: - cancer is also found on the outside surface of one or both ovaries or fallopian tubes; or - the capsule (outer covering) of the ovary ruptured (broke open) before or during surgery; or - cancer cells are found in the fluid of the peritoneal cavity (the body cavity that contains most of the organs in the abdomen) or in washings of the peritoneum (tissue lining the peritoneal cavity). Stage II In stage II, cancer is found in one or both ovaries or fallopian tubes and has spread into other areas of the pelvis, or primary peritoneal cancer is found within the pelvis. Stage II ovarian epithelial and fallopian tube cancers are divided into stage IIA and stage IIB. - Stage IIA: Cancer has spread from where it first formed to the uterus and/or the fallopian tubes and/or the ovaries. - Stage IIB: Cancer has spread from the ovary or fallopian tube to organs in the peritoneal cavity (the space that contains the abdominal organs). Stage III In stage III, cancer is found in one or both ovaries or fallopian tubes, or is primary peritoneal cancer, and has spread outside the pelvis to other parts of the abdomen and/or to nearby lymph nodes. Stage III is divided into stage IIIA, stage IIIB, and stage IIIC. - In stage IIIA, one of the following is true: - Cancer has spread to lymph nodes in the area outside or behind the peritoneum only; or - Cancer cells that can be seen only with a microscope have spread to the surface of the peritoneum outside the pelvis. Cancer may have spread to nearby lymph nodes. - Stage IIIB: Cancer has spread to the peritoneum outside the pelvis and the cancer in the peritoneum is 2 centimeters or smaller. Cancer may have spread to lymph nodes behind the peritoneum. - Stage IIIC: Cancer has spread to the peritoneum outside the pelvis and the cancer in the peritoneum is larger than 2 centimeters. Cancer may have spread to lymph nodes behind the peritoneum or to the surface of the liver or spleen. Stage IV In stage IV, cancer has spread beyond the abdomen to other parts of the body. Stage IV is divided into stage IVA and stage IVB. - Stage IVA: Cancer cells are found in extra fluid that builds up around the lungs. - Stage IVB: Cancer has spread to organs and tissues outside the abdomen, including lymph nodes in the groin.\n \n \n Ovarian epithelial, fallopian tube, and primary peritoneal cancers are grouped for treatment as early or advanced cancer.\n Stage I ovarian epithelial and fallopian tube cancers are treated as early cancers. Stages II, III, and IV ovarian epithelial, fallopian tube, and primary peritoneal cancers are treated as advanced cancers.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Pulmonary Hypertension ?"}, {"role": "assistant", "content": "Pulmonary hypertension (PH) is high blood pressure in the arteries to your lungs. It is a serious condition. If you have it, the blood vessels that carry blood from your heart to your lungs become hard and narrow. Your heart has to work harder to pump the blood through. Over time, your heart weakens and cannot do its job and you can develop heart failure. Symptoms of PH include - Shortness of breath during routine activity, such as climbing two flights of stairs - Tiredness - Chest pain - A racing heartbeat - Pain on the upper right side of the abdomen - Decreased appetite As PH worsens, you may find it hard to do any physical activities. There are two main kinds of PH. One runs in families or appears for no known reason. The other kind is related to another condition, usually heart or lung disease. There is no cure for PH. Treatments can control symptoms. They involve treating the heart or lung disease, medicines, oxygen, and sometimes lung transplantation. NIH: National Heart, Lung, and Blood Institute", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for aniridia ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of aniridia: - Gene Review: Gene Review: Aniridia - Genetic Testing Registry: Congenital aniridia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Hyperparathyroidism-jaw tumor syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Hyperparathyroidism-jaw tumor syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hyperparathyroidism-jaw tumor syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the head - Autosomal dominant inheritance - Hamartoma - Hurthle cell thyroid adenoma - Hypercalcemia - Hyperparathyroidism - Nephroblastoma (Wilms tumor) - Nephrolithiasis - Pancreatic adenocarcinoma - Papillary renal cell carcinoma - Parathyroid adenoma - Parathyroid carcinoma - Polycystic kidney dysplasia - Recurrent pancreatitis - Renal cortical adenoma - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for nonsyndromic holoprosencephaly ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of nonsyndromic holoprosencephaly: - Gene Review: Gene Review: Holoprosencephaly Overview - Genetic Testing Registry: Holoprosencephaly 1 - Genetic Testing Registry: Holoprosencephaly 10 - Genetic Testing Registry: Holoprosencephaly 2 - Genetic Testing Registry: Holoprosencephaly 3 - Genetic Testing Registry: Holoprosencephaly 4 - Genetic Testing Registry: Holoprosencephaly 5 - Genetic Testing Registry: Holoprosencephaly 6 - Genetic Testing Registry: Holoprosencephaly 7 - Genetic Testing Registry: Holoprosencephaly 8 - Genetic Testing Registry: Holoprosencephaly 9 - Genetic Testing Registry: Holoprosencephaly sequence - Genetic Testing Registry: NODAL-Related Holoprosencephaly These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) congenital deafness with labyrinthine aplasia, microtia, and microdontia ?"}, {"role": "assistant", "content": "Congenital deafness with labyrinthine aplasia, microtia, and microdontia (also called LAMM syndrome) is a condition that affects development of the ears and teeth. In people with this condition, the structures that form the inner ear are usually completely absent (labyrinthine aplasia). Rarely, affected individuals have some underdeveloped inner ear structures in one or both ears. The abnormalities of the inner ear cause a form of hearing loss called sensorineural deafness that is present from birth (congenital). Because the inner ear is important for balance as well as hearing, development of motor skills, such as sitting and crawling, may be delayed in affected infants. In addition, people with LAMM syndrome often have abnormally small outer ears (microtia) with narrow ear canals. They can also have unusually small, widely spaced teeth (microdontia).", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Gastritis ?"}, {"role": "assistant", "content": "Health care providers treat gastritis with medications to\n \n- reduce the amount of acid in the stomach - treat the underlying cause\n \nReduce the Amount of Acid in the Stomach\n \nThe stomach lining of a person with gastritis may have less protection from acidic digestive juice. Reducing acid can promote healing of the stomach lining. Medications that reduce acid include\n \n- antacids, such as Alka-Seltzer, Maalox, Mylanta, Rolaids, and Riopan. Many brands use different combinations of three basic saltsmagnesium, aluminum, and calciumalong with hydroxide or bicarbonate ions to neutralize stomach acid. Antacids, however, can have side effects. Magnesium salt can lead to diarrhea, and aluminum salt can cause constipation. Magnesium and aluminum salts are often combined in a single product to balance these effects. Calcium carbonate antacids, such as Tums, Titralac, and Alka-2, can cause constipation. - H2 blockers, such as cimetidine (Tagamet HB), famotidine (Pepcid AC), nizatidine (Axid AR), and ranitidine (Zantac 75). H2 blockers decrease acid production. They are available in both over-the-counter and prescription strengths. - proton pump inhibitors (PPIs) include omeprazole (Prilosec, Zegerid), lansoprazole (Prevacid), dexlansoprazole (Dexilant), pantoprazole (Protonix), rabeprazole (AcipHex), and esomeprazole (Nexium). PPIs decrease acid production more effectively than H2 blockers. All of these medications are available by prescription. Omeprazole and lansoprazole are also available in over-the-counter strength.\n \nTreat the Underlying Cause\n \nDepending on the cause of gastritis, a health care provider may recommend additional treatments.\n \n- Treating H. pylori infection with antibiotics is important, even if a person does not have symptoms from the infection. Curing the infection often cures the gastritis and decreases the chance of developing complications, such as peptic ulcer disease, MALT lymphoma, and gastric cancer. - Avoiding the cause of reactive gastritis can provide some people with a cure. For example, if prolonged NSAID use is the cause of the gastritis, a health care provider may advise the patient to stop taking the NSAIDs, reduce the dose, or change pain medications. - Health care providers may prescribe medications to prevent or treat stress gastritis in a patient who is critically ill or injured. Medications to protect the stomach lining include sucralfate (Carafate), H2 blockers, and PPIs. Treating the underlying illness or injury most often cures stress gastritis. - Health care providers may treat people with pernicious anemia due to autoimmune atrophic gastritis with vitamin B12 injections.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Esthesioneuroblastoma ?"}, {"role": "assistant", "content": "How is esthesioneuroblastoma diagnosed? Diagnosis is typically obtained through clinical examination, biopsy, and MRI and CT scans.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by boomerang dysplasia ?"}, {"role": "assistant", "content": "Boomerang dysplasia is a rare disorder; its exact prevalence is unknown. Approximately 10 affected individuals have been identified.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Do you have information about Folic Acid"}, {"role": "assistant", "content": "Summary : Folic acid is a B vitamin. It helps the body make healthy new cells. Everyone needs folic acid. For women who may get pregnant, it is really important. Getting enough folic acid before and during pregnancy can prevent major birth defects of her baby's brain or spine. Foods with folic acid in them include - Leafy green vegetables - Fruits - Dried beans, peas, and nuts - Enriched breads, cereals and other grain products If you don't get enough folic acid from the foods you eat, you can also take it as a dietary supplement. NIH: National Institutes of Health Office of Dietary Supplements", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Book syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Book syndrome? To our knowledge, Book syndrome has only been reported in one, large Swedish family (25 cases in 4 generations) and in one other isolated case. The signs and symptoms reported in the Swedish family included premolar aplasia (when the premolars fail to develop); excessive sweating (hyperhidrosis); and early whitening of the hair. Early whitening of the hair was the most constant symptom, being found in every affected family member. The age of onset of this symptom ranged from age 6 to age 23. In some cases, there was whitening of hair on other parts of the body such as the armipits, genital hair, and eyebrows. Two-thirds of the affected people had an abnormality of the sweat glands. In the isolated case, additional features that were reported include a narrow palate (roof of the mouth); hypoplastic (underdeveloped) nails; eyebrow anomalies; a unilateral simian crease; and poorly formed dermatoglyphics (skin patterns on the hands and feet). The Human Phenotype Ontology provides the following list of signs and symptoms for Book syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Premature graying of hair 90% Short palm 90% Abnormality of the eyebrow 50% Abnormality of the fingernails 50% Abnormality of the palate 50% Single transverse palmar crease 50% Autosomal dominant inheritance - Hypodontia - Palmoplantar hyperhidrosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is the outlook for Penile Cancer ?"}, {"role": "assistant", "content": "Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - The stage of the cancer. - The location and size of the tumor. - Whether the cancer has just been diagnosed or has recurred (come back).", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is congenital hyperinsulinism inherited ?"}, {"role": "assistant", "content": "Congenital hyperinsulinism can have different inheritance patterns, usually depending on the form of the condition. At least two forms of the condition have been identified. The most common form is the diffuse form, which occurs when all of the beta cells in the pancreas secrete too much insulin. The focal form of congenital hyperinsulinism occurs when only some of the beta cells over-secrete insulin. Most often, the diffuse form of congenital hyperinsulinism is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Less frequently, the diffuse form is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. The inheritance of the focal form of congenital hyperinsulinism is more complex. For most genes, both copies are turned on (active) in all cells, but for a small subset of genes, one of the two copies is turned off (inactive). Most people with the focal form of this condition inherit one copy of the mutated, inactive gene from their unaffected father. During embryonic development, a mutation occurs in the other, active copy of the gene. This second mutation is found within only some cells in the pancreas. As a result, some pancreatic beta cells have abnormal insulin secretion, while other beta cells function normally.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for arginine:glycine amidinotransferase deficiency ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of arginine:glycine amidinotransferase deficiency: - Gene Review: Gene Review: Creatine Deficiency Syndromes - Genetic Testing Registry: Arginine:glycine amidinotransferase deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is the outlook for Back Pain ?"}, {"role": "assistant", "content": "Most patients with back pain recover without residual functional loss, but individuals should contact a doctor if there is not a noticeable reduction in pain and inflammation after 72 hours of self-care. Recurring back pain resulting from improper body mechanics or other nontraumatic causes is often preventable. Engaging in exercises that don't jolt or strain the back, maintaining correct posture, and lifting objects properly can help prevent injuries. Many work-related injuries are caused or aggravated by stressors such as heavy lifting, vibration, repetitive motion, and awkward posture. Applying ergonomic principles designing furniture and tools to protect the body from injury at home and in the workplace can greatly reduce the risk of back injury and help maintain a healthy back.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Galactosialidosis ?"}, {"role": "assistant", "content": "Galactosialidosis is an autosomal recessive lysosomal storage disorder caused by mutations in the CTSA gene. It is characterized by coarse facial features, macular cherry-red spots, angiokeratoma (dark red spots on the skin), vertebral deformities, epilepsy, action myoclonus, and ataxia. There are three different types of galactosialidosis: early infantile, late infantile and juvenile/adult. The three forms of galactosialidosis are distinguished by the age at which symptoms develop and the pattern of features.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Monogenic Forms of Diabetes: Neonatal Diabetes Mellitus and Maturity-onset Diabetes of the Young ?"}, {"role": "assistant", "content": "MODY is a monogenic form of diabetes that usually first occurs during adolescence or early adulthood. However, MODY sometimes remains undiagnosed until later in life. A number of different gene mutations have been shown to cause MODY, all of which limit the ability of the pancreas to produce insulin. This process leads to the high blood glucose levels characteristic of diabetes and, in time, may damage body tissues, particularly the eyes, kidneys, nerves, and blood vessels. MODY accounts for about 1 to 5 percent of all cases of diabetes in the United States. Family members of people with MODY are at greatly increased risk for the condition.\n \nPeople with MODY may have only mild or no symptoms of diabetes and their hyperglycemia may only be discovered during routine blood tests. MODY may be confused with type 1 or type 2 diabetes. People with MODY are generally not overweight and do not have other risk factors for type 2 diabetes, such as high blood pressure or abnormal blood fat levels. While both type 2 diabetes and MODY can run in families, people with MODY typically have a family history of diabetes in multiple successive generations, meaning that MODY is present in a grandparent, a parent, and a child. Unlike people with type 1 diabetes who always require insulin, people with MODY can often be treated with oral diabetes medications. Treatment varies depending on the genetic mutation that has caused the MODY. More information about each type of MODY is provided in the appendix.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to hypochondrogenesis ?"}, {"role": "assistant", "content": "Hypochondrogenesis is one of the most severe conditions in a spectrum of disorders caused by mutations in the COL2A1 gene. This gene provides instructions for making a protein that forms type II collagen. This type of collagen is found mostly in the clear gel that fills the eyeball (the vitreous) and in cartilage. Cartilage is a tough, flexible tissue that makes up much of the skeleton during early development. Most cartilage is later converted to bone, except for the cartilage that continues to cover and protect the ends of bones and is present in the nose and external ears. Type II collagen is essential for the normal development of bones and other connective tissues that form the body's supportive framework. Mutations in the COL2A1 gene interfere with the assembly of type II collagen molecules, which prevents bones and other connective tissues from developing properly.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Hypopharyngeal Cancer ?"}, {"role": "assistant", "content": "Key Points\n - Hypopharyngeal cancer is a disease in which malignant (cancer) cells form in the tissues of the hypopharynx. - Use of tobacco products and heavy drinking can affect the risk of developing hypopharyngeal cancer. - Signs and symptoms of hypopharyngeal cancer include a sore throat and ear pain. - Tests that examine the throat and neck are used to help detect (find) and diagnose hypopharyngeal cancer. - Certain factors affect prognosis (chance of recovery) and treatment options.\n \n \n Hypopharyngeal cancer is a disease in which malignant (cancer) cells form in the tissues of the hypopharynx.\n The hypopharynx is the bottom part of the pharynx (throat). The pharynx is a hollow tube about 5 inches long that starts behind the nose, goes down the neck, and ends at the top of the trachea (windpipe) and esophagus (the tube that goes from the throat to the stomach). Air and food pass through the pharynx on the way to the trachea or the esophagus. Most hypopharyngeal cancers form in squamous cells, the thin, flat cells lining the inside of the hypopharynx. The hypopharynx has 3 different areas. Cancer may be found in 1 or more of these areas. Hypopharyngeal cancer is a type of head and neck cancer.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Familial prostate cancer ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Familial prostate cancer? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial prostate cancer. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Neoplasm - Prostate cancer - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Parasites - Loiasis ?"}, {"role": "assistant", "content": "In people who have been bitten by the flies that carry Loa loa in areas where Loa loa is known to exist, the diagnosis can be made in the following ways:\n \n - Identification of the adult worm by a microbiologist or pathologist after its removal from under the skin or eye\n - Identification of an adult worm in the eye by a health care provider\n - Identification of the microfilariae on a blood smear made from blood taken from the patient between 10AM and 2PM\n - Identification of antibodies against L. loa on specialized blood test\n \n \nDiagnosis of loiasis can be difficult, especially in light infections where there are very few microfilariae in the blood. The specialized blood test is not widely available in the United States. A positive antibody blood test in someone with no symptoms means only that the person was infected sometime in his/her life. It does not mean that the person still has living parasites in his/her body.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome ?"}, {"role": "assistant", "content": "What causes megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome? The cause of MPPH syndrome is unknown. Infection during pregnancy or fetal accident is thought to be unlikely.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) glycogen storage disease type IV ?"}, {"role": "assistant", "content": "Glycogen storage disease type IV (GSD IV) is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulated glycogen is structurally abnormal and impairs the function of certain organs and tissues, especially the liver and muscles. There are five types of GSD IV, which are distinguished by their severity, signs, and symptoms. The fatal perinatal neuromuscular type is the most severe form of GSD IV, with signs developing before birth. Excess fluid may build up around the fetus (polyhydramnios) and in the fetus' body. Affected fetuses have a condition called fetal akinesia deformation sequence, which causes a decrease in fetal movement and can lead to joint stiffness (arthrogryposis) after birth. Infants with the fatal perinatal neuromuscular type of GSD IV have very low muscle tone (severe hypotonia) and muscle wasting (atrophy). These infants usually do not survive past the newborn period due to weakened heart and breathing muscles. The congenital muscular type of GSD IV is usually not evident before birth but develops in early infancy. Affected infants have severe hypotonia, which affects the muscles needed for breathing. These babies often have dilated cardiomyopathy, which enlarges and weakens the heart (cardiac) muscle, preventing the heart from pumping blood efficiently. Infants with the congenital muscular type of GSD IV typically survive only a few months. The progressive hepatic type is the most common form of GSD IV. Within the first months of life, affected infants have difficulty gaining weight and growing at the expected rate (failure to thrive) and develop an enlarged liver (hepatomegaly). Children with this type develop a form of liver disease called cirrhosis that often is irreversible. High blood pressure in the vein that supplies blood to the liver (portal hypertension) and an abnormal buildup of fluid in the abdominal cavity (ascites) can also occur. By age 1 or 2, affected children develop hypotonia. Children with the progressive hepatic type of GSD IV often die of liver failure in early childhood. The non-progressive hepatic type of GSD IV has many of the same features as the progressive hepatic type, but the liver disease is not as severe. In the non-progressive hepatic type, hepatomegaly and liver disease are usually evident in early childhood, but affected individuals typically do not develop cirrhosis. People with this type of the disorder can also have hypotonia and muscle weakness (myopathy). Most individuals with this type survive into adulthood, although life expectancy varies depending on the severity of the signs and symptoms. The childhood neuromuscular type of GSD IV develops in late childhood and is characterized by myopathy and dilated cardiomyopathy. The severity of this type of GSD IV varies greatly; some people have only mild muscle weakness while others have severe cardiomyopathy and die in early adulthood.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to horizontal gaze palsy with progressive scoliosis ?"}, {"role": "assistant", "content": "HGPPS is caused by mutations in the ROBO3 gene. This gene provides instructions for making a protein that is important for the normal development of certain nerve pathways in the brain. These include motor nerve pathways, which transmit information about voluntary muscle movement, and sensory nerve pathways, which transmit information about sensory input (such as touch, pain, and temperature). For the brain and the body to communicate effectively, these nerve pathways must cross from one side of the body to the other in the brainstem, a region that connects the upper parts of the brain with the spinal cord. The ROBO3 protein plays a critical role in ensuring that motor and sensory nerve pathways cross over in the brainstem. In people with HGPPS, these pathways do not cross over, but stay on the same side of the body. Researchers believe that this miswiring in the brainstem is the underlying cause of the eye movement abnormalities associated with the disorder. The cause of progressive scoliosis in HGPPS is unclear. Researchers are working to determine why the effects of ROBO3 mutations appear to be limited to horizontal eye movement and scoliosis.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to succinate-CoA ligase deficiency ?"}, {"role": "assistant", "content": "Succinate-CoA ligase deficiency results from mutations in the SUCLA2 or SUCLG1 gene. SUCLG1 gene mutations can cause fatal infantile lactic acidosis, while mutations in either gene can cause the somewhat less severe form of the condition. The SUCLA2 and SUCLG1 genes each provide instructions for making one part (subunit) of an enzyme called succinate-CoA ligase. This enzyme plays a critical role in mitochondria, which are structures within cells that convert the energy from food into a form that cells can use. Mitochondria each contain a small amount of DNA, known as mitochondrial DNA or mtDNA, which is essential for the normal function of these structures. Succinate-CoA ligase is involved in producing and maintaining the building blocks of mitochondrial DNA. Mutations in either the SUCLA2 or SUCLG1 gene disrupt the normal function of succinate-CoA ligase. A shortage (deficiency) of this enzyme leads to problems with the production and maintenance of mitochondrial DNA. A reduction in the amount of mitochondrial DNA (known as mitochondrial DNA depletion) impairs mitochondrial function in many of the body's cells and tissues. These problems lead to hypotonia, muscle weakness, and the other characteristic features of succinate-CoA ligase deficiency.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Paget's Disease of Bone ?"}, {"role": "assistant", "content": "Paget's disease of bone is a disease that causes affected bones to become enlarged and misshapen. Our bones are living tissue, and our bodies are constantly breaking down old bone and replacing it with new bone. In Paget's disease, however, old bone is broken down and replaced at a faster rate than normal. The new bone is larger and weaker than normal bone.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Motor Neuron Diseases ?"}, {"role": "assistant", "content": "There is no cure or standard treatment for the MNDs. Symptomatic and supportive treatment can help patients be more comfortable while maintaining their quality of life. The drug riluzole (Rilutek), which as of this date is the only drug approved by the U.S. Food and Drug Administration to treat ALS, prolongs life by 2-3 months but does not relieve symptoms. Other medicines that may help reduce symptoms include muscle relaxants such as baclofen, tizanidine, and the benzodiazepines for spasticity; glycopyrrolate and atropine to treat excessive saliva; and anticonvulsants and nonsteroidal anti-inflammatory drugs to relieve pain. Panic attacks can be treated with benzodiazepines. Some patients may require stronger medicines such as morphine to cope with musculoskeletal abnormalities or pain in later stages of the disorders, and opiates are used to provide comfort care in terminal stages of the disease.\n \nPhysical and speech therapy, occupational therapy, and rehabilitation may help to improve posture, prevent joint immobility, slow muscle weakness and atrophy, and cope with swallowing difficulties. Applying heat may relieve muscle pain. Assistive devices such as supports or braces, orthotics, speech synthesizers, and wheelchairs help some patients retain independence. Proper nutrition and a balanced diet are essential to maintaining weight and strength.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to pantothenate kinase-associated neurodegeneration ?"}, {"role": "assistant", "content": "Mutations in the PANK2 gene cause pantothenate kinase-associated neurodegeneration. The PANK2 gene provides instructions for making an enzyme called pantothenate kinase 2. This enzyme is active in mitochondria, the energy-producing centers within cells, where it plays a critical role in the formation of a molecule called coenzyme A. Found in all living cells, coenzyme A is essential for the body's production of energy from carbohydrates, fats, and some protein building blocks (amino acids). Mutations in the PANK2 gene likely result in the production of an abnormal version of pantothenate kinase 2 or prevent cells from making any of this enzyme. A lack of functional pantothenate kinase 2 disrupts the production of coenzyme A and allows potentially harmful compounds to build up in the brain. This buildup leads to swelling and tissue damage, and allows iron to accumulate abnormally in certain parts of the brain. Researchers have not determined how these changes result in the specific features of pantothenate kinase-associated neurodegeneration. Because pantothenate kinase 2 functions in mitochondria, the signs and symptoms of this condition may be related to impaired energy production.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to Meier-Gorlin syndrome ?"}, {"role": "assistant", "content": "Meier-Gorlin syndrome can be caused by mutations in one of several genes. Each of these genes, ORC1, ORC4, ORC6, CDT1, and CDC6, provides instructions for making one of a group of proteins known as the pre-replication complex. This complex regulates initiation of the copying (replication) of DNA before cells divide. Specifically, the pre-replication complex attaches (binds) to certain regions of DNA known as origins of replication, allowing copying of the DNA to begin at that location. This tightly controlled process, called replication licensing, helps ensure that DNA replication occurs only once per cell division and is required for cells to divide. Mutations in any one of these genes impair formation of the pre-replication complex and disrupt replication licensing; however, it is not clear how a reduction in replication licensing leads to Meier-Gorlin syndrome. Researchers speculate that such a reduction delays the cell division process, which impairs growth of the bones and other tissues during development. Some research suggests that some of the pre-replication complex proteins have additional functions, impairment of which may contribute to features of Meier-Gorlin syndrome, such as delayed development of the kneecaps and ears.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Lung Cancer ?"}, {"role": "assistant", "content": "- Surgery is an operation to remove the cancer. Depending on the location of the tumor, the surgeon may remove a small part of the lung, a lobe of the lung, or the entire lung. Surgery is an operation to remove the cancer. Depending on the location of the tumor, the surgeon may remove a small part of the lung, a lobe of the lung, or the entire lung. - Conventional chemotherapy uses anti-cancer drugs to kill cancer cells throughout the body. Doctors use chemotherapy to control cancer growth and relieve symptoms. Anti-cancer drugs are given by injection; through a catheter, a long thin tube temporarily placed in a large vein; or in pill form. Conventional chemotherapy uses anti-cancer drugs to kill cancer cells throughout the body. Doctors use chemotherapy to control cancer growth and relieve symptoms. Anti-cancer drugs are given by injection; through a catheter, a long thin tube temporarily placed in a large vein; or in pill form. - Radiation therapy uses high-energy beams to kill cancer cells and shrink tumors. An external machine delivers radiation to a limited area, affecting cancer cells only in that area. Doctors may use radiation therapy before surgery to shrink a tumor or after surgery to destroy any cancer cells remaining in the treated area. Radiation therapy uses high-energy beams to kill cancer cells and shrink tumors. An external machine delivers radiation to a limited area, affecting cancer cells only in that area. Doctors may use radiation therapy before surgery to shrink a tumor or after surgery to destroy any cancer cells remaining in the treated area.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Congenital Myopathy ?"}, {"role": "assistant", "content": "Currently, only central core disease has an effective treatment (see above). There are no known cures for any of these disorders. Supportive treatment may involve orthopedic treatments, as well as physical, occupational or speech therapy.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Hemochromatosis ?"}, {"role": "assistant", "content": "Hemochromatosis is a condition in which too much iron builds up in the body (iron overload). Accumulation of iron in the organs is toxic and can result in organ failure. While many organs can be affected, it may especially affect the liver, heart, and pancreas. Symptoms of hemochromatosis tend to develop gradually and often don't appear until middle age or later. The condition may not be diagnosed until iron accumulation is excessive. Early symptoms may be vague, such as fatigue or weakness. Other symptoms or features may include joint pain, abdominal pain, loss of sex drive, arthritis, liver disease, diabetes, heart problems, and skin discoloration. Hemochromatosis may be hereditary or acquired (secondary) due to another condition such as anemia, chronic liver disease, or an infection. There is also a neonatal form. Hereditary hemochromatosis is classified by type based on age of onset, genetic cause and mode of inheritance: Hemochromotosis type 1 Hemochromatosis type 2 Hemochromatosis type 3 Hemochromatosis type 4 Treatment usually involves removing blood (phlebotomy), which prevents additional organ damage but does not reverse existing damage.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to activated PI3K-delta syndrome ?"}, {"role": "assistant", "content": "Activated PI3K-delta syndrome is caused by mutations in the PIK3CD gene, which provides instructions for making a protein called p110 delta (p110). This protein is one piece (subunit) of an enzyme called phosphatidylinositol 3-kinase (PI3K), which turns on signaling pathways within cells. The version of PI3K containing the p110 subunit, called PI3K-delta, is specifically found in white blood cells, including B cells and T cells. PI3K-delta signaling is involved in the growth and division (proliferation) of white blood cells, and it helps direct B cells and T cells to mature (differentiate) into different types, each of which has a distinct function in the immune system. PIK3CD gene mutations involved in activated PI3K-delta syndrome lead to production of an altered p110 protein. A PI3K-delta enzyme containing the altered subunit is abnormally turned on (activated). Studies indicate that overactive PI3K-delta signaling alters the differentiation of B cells and T cells, leading to production of cells that cannot respond to infections and that die earlier than usual. Lack of functioning B cells and T cells makes it difficult for people with this disorder to fight off bacterial and viral infections. Overactivation of PI3K-delta signaling can also stimulate abnormal proliferation of white blood cells, leading to lymphadenopathy and nodular lymphoid hyperplasia in some affected individuals. An increase in B cell proliferation in combination with reduced immune system function may contribute to development of B-cell lymphoma.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Wolfram syndrome ?"}, {"role": "assistant", "content": "How is Wolfram syndrome diagnosed? A diagnosis of Wolfram syndrome is based on the presence of characteristic signs and symptoms. The identification of a change (mutation) in the WFS1 gene or CISD2 gene confirms the diagnosis. Is genetic testing available for Wolfram syndrome? Yes. Clinical genetic testing is available for changes (mutations) in WFS1 and CISD2, the two genes known to cause Wolfram syndrome type 1 and Wolfram syndrome type 2, respectively. Carrier testing for at-risk relatives and prenatal testing are possible if the two disease-causing mutations in the family are known. The Genetic Testing Registry (GTR) is a centralized online resource for information about genetic tests. It offers information on genetic testing for Wolfram syndrome type 1 and Wolfram syndrome type 2. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by Ehlers-Danlos syndrome ?"}, {"role": "assistant", "content": "Although it is difficult to estimate the overall frequency of Ehlers-Danlos syndrome, the combined prevalence of all types of this condition may be about 1 in 5,000 individuals worldwide. The hypermobility and classical forms are most common; the hypermobility type may affect as many as 1 in 10,000 to 15,000 people, while the classical type probably occurs in 1 in 20,000 to 40,000 people. Other forms of Ehlers-Danlos syndrome are very rare. About 30 cases of the arthrochalasia type and about 60 cases of the kyphoscoliosis type have been reported worldwide. About a dozen infants and children with the dermatosparaxis type have been described. The vascular type is also rare; estimates vary widely, but the condition may affect about 1 in 250,000 people.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Anxiety Disorders ?"}, {"role": "assistant", "content": "Cognitive behavioral therapy (CBT) is a type of psychotherapy that is very useful in treating anxiety disorders. It can help people change the thinking patterns that support their fears and change the way they react to anxiety-provoking situations. For example, cognitive behavioral therapy can help people with panic disorder learn that their panic attacks are not really heart attacks and help people with social phobia learn how to overcome the belief that others are always watching and judging them. When people are ready to confront their fears, they are shown how to use exposure techniques to desensitize themselves to situations that trigger their anxieties.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by congenital afibrinogenemia ?"}, {"role": "assistant", "content": "Congenital afibrinogenemia is a rare condition that occurs in approximately 1 in 1 million newborns.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Graves' Disease ?"}, {"role": "assistant", "content": "People with Graves disease have three treatment options: radioiodine therapy, medications, and thyroid surgery. Radioiodine therapy is the most common treatment for Graves disease in the United States. Graves disease is often diagnosed and treated by an endocrinologista doctor who specializes in the bodys hormone- secreting glands.\n \nRadioiodine Therapy\n \nIn radioiodine therapy, patients take radioactive iodine-131 by mouth. Because the thyroid gland collects iodine to make thyroid hormone, it will collect the radioactive iodine from the bloodstream in the same way. Iodine-131stronger than the radioactive iodine used in diagnostic testsgradually destroys the cells that make up the thyroid gland but does not affect other body tissues.\n \nMany health care providers use a large enough dose of iodine-131 to shut down the thyroid completely, but some prefer smaller doses to try to bring hormone production into the normal range. More than one round of radioiodine therapy may be needed. Results take time and people undergoing this treatment may not notice improvement in symptoms for several weeks or months.\n \nPeople with GO should talk with a health care provider about any risks associated with radioactive iodine treatments. Several studies suggest radioiodine therapy can worsen GO in some people. Other treatments, such as prescription steroids, may prevent this complication.\n \nAlthough iodine-131 is not known to cause birth defects or infertility, radioiodine therapy is not used in pregnant women or women who are breastfeeding. Radioactive iodine can be harmful to the fetus thyroid and can be passed from mother to child in breast milk. Experts recommend that women wait a year after treatment before becoming pregnant.\n \nAlmost everyone who receives radioactive iodine treatment eventually develops hypothyroidism, which occurs when the thyroid does not make enough thyroid hormone. People with hypothyroidism must take synthetic thyroid hormone, a medication that replaces their natural thyroid hormone.\n \nMedications\n \nBeta blockers. Health care providers may prescribe a medication called a beta blocker to reduce many of the symptoms of hyperthyroidism, such as tremors, rapid heartbeat, and nervousness. But beta blockers do not stop thyroid hormone production.\n \nAnti-thyroid medications. Health care providers sometimes prescribe anti-thyroid medications as the only treatment for Graves disease. Anti-thyroid medications interfere with thyroid hormone production but dont usually have permanent results. Use of these medications requires frequent monitoring by a health care provider. More often, anti-thyroid medications are used to pretreat patients before surgery or radioiodine therapy, or they are used as supplemental treatment after radioiodine therapy.\n \nAnti-thyroid medications can cause side effects in some people, including\n \n- allergic reactions such as rashes and itching - a decrease in the number of white blood cells in the body, which can lower a persons resistance to infection - liver failure, in rare cases\n \nIn the United States, health care providers prescribe the anti-thyroid medication methimazole (Tapazole, Northyx) for most types of hyperthyroidism.\n \nAnti-thyroid medications and pregnancy. Because pregnant and breastfeeding women cannot receive radioiodine therapy, they are usually treated with an anti-thyroid medication instead. However, experts agree that women in their first trimester of pregnancy should probably not take methimazole due to the rare occurrence of damage to the fetus.\n \nAnother anti-thyroid medication, propylthiouracil (PTU), is available for women in this stage of pregnancy or for women who are allergic to or intolerant of methimazole and have no other treatment options. Health care providers may prescribe PTU for the first trimester of pregnancy and switch to methimazole for the second and third trimesters.\n \nSome women are able to stop taking anti-thyroid medications in the last 4 to 8 weeks of pregnancy due to the remission of hyperthyroidism that occurs during pregnancy. However, these women should continue to be monitored for recurrence of thyroid problems following delivery.\n \nStudies have shown that mothers taking anti-thyroid medications may safely breastfeed. However, they should take only moderate doses, less than 1020 milligrams daily, of the anti-thyroid medication methimazole. Doses should be divided and taken after feedings, and the infants should be monitored for side effects.2\n \nWomen requiring higher doses of the anti-thyroid medication to control hyperthyroidism should not breastfeed.\n \n2Ogunyemi DA. Autoimmune thyroid disease and pregnancy. emedicine website. emedicine.medscape.com/article/261913-overview. Updated March 12, 2012. Accessed April 10, 2012.\n \nStop your anti-thyroid medication and call your health care provider right away if you develop any of the following while taking anti-thyroid medications: - fatigue - weakness - vague abdominal pain - loss of appetite - skin rash or itching - easy bruising - yellowing of the skin or whites of the eyes, called jaundice - persistent sore throat - fever\n \nThyroid Surgery\n \nSurgery is the least-used option for treating Graves disease. Sometimes surgery may be used to treat\n \n- pregnant women who cannot tolerate anti-thyroid medications - people suspected of having thyroid cancer, though Graves disease does not cause cancer - people for whom other forms of treatment are not successful\n \nBefore surgery, the health care provider may prescribe anti-thyroid medications to temporarily bring a patients thyroid hormone levels into the normal range. This presurgical treatment prevents a condition called thyroid storma sudden, severe worsening of symptomsthat can occur when hyperthyroid patients have general anesthesia.\n \nWhen surgery is used, many health care providers recommend the entire thyroid be removed to eliminate the chance that hyperthyroidism will return. If the entire thyroid is removed, lifelong thyroid hormone medication is necessary.\n \nAlthough uncommon, certain problems can occur in thyroid surgery. The parathyroid glands can be damaged because they are located very close to the thyroid. These glands help control calcium and phosphorous levels in the body. Damage to the laryngeal nerve, also located close to the thyroid, can lead to voice changes or breathing problems.\n \nBut when surgery is performed by an experienced surgeon, less than 1 percent of patients have permanent complications.1 People who need help finding a surgeon can contact one of the organizations listed under For More Information.\n \nEye Care\n \nThe eye problems associated with Graves disease may not improve following thyroid treatment, so the two problems are often treated separately.\n \nEye drops can relieve dry, gritty, irritated eyesthe most common of the milder symptoms. If pain and swelling occur, health care providers may prescribe a steroid such as prednisone. Other medications that suppress the immune response may also provide relief.\n \nSpecial lenses for glasses can help with light sensitivity and double vision. People with eye symptoms may be advised to sleep with their head elevated to reduce eyelid swelling. If the eyelids do not fully close, taping them shut at night can help prevent dry eyes.\n \nIn more severe cases, external radiation may be applied to the eyes to reduce inflammation. Like other types of radiation treatment, the benefits are not immediate; most people feel relief from symptoms 1 to 2 months after treatment.\n \nSurgery may be used to improve bulging of the eyes and correct the vision changes caused by pressure on the optic nerve. A procedure called orbital decompression makes the eye socket bigger and gives the eye room to sink back to a more normal position. Eyelid surgery can return retracted eyelids to their normal position.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Sydenham Chorea ?"}, {"role": "assistant", "content": "There is no specific treatment for SD. For people with the mildest form, bed rest during the period of active movements is sufficient. When the severity of movements interferes with rest, sedative drugs, such as barbiturates or benzodiazepines, may be needed. Antiepileptic medications, such as valproic acid, are often prescribed. Doctors also recommend that children who have had SD take penicillin over the course of the next 10 years to prevent additional manifestations of rheumatic fever.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Usher syndrome, type 1C inherited ?"}, {"role": "assistant", "content": "How is Usher syndrome inherited? Usher syndrome is inherited in an autosomal recessive manner. This means that a person must have a change (mutation) in both copies of the disease-causing gene in each cell to have Usher syndrome. One mutated copy is typically inherited from each parent, who are each referred to as a carrier. Carriers of an autosomal recessive condition usually do not have any signs or symptoms. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) chance to have the condition, a 50% (1 in 2) chance to be an unaffected carrier like each parent, and a 25% chance to not be a carrier and not be affected.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Bell's palsy ?"}, {"role": "assistant", "content": "Bell's palsy is a form of temporary facial paralysis which results from damage or trauma to one of the facial nerves. This disorder is characterized by the sudden onset of facial paralysis that often affects just one side and can cause significant facial distortion. Symptoms vary, but may include twitching, weakness, drooping eyelid or corner of the mouth, drooling, dry eye or mouth, impairment of taste, and excessive tearing in the eye. While the exact cause is unknown, many researchers believe that a virus may lead to swelling of the 7th cranial nerve. Steroids, such as prednisone, may reduce the inflammation and swelling. Other medications used to treat Bell's palsy include acyclovir (to fight viral infections) and aspirin, acetaminophen, or ibuprofen (to relieve pain). Physical therapy, facial massage and acupuncture have also been used.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of McCune Albright syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of McCune Albright syndrome? People with McCune Albright syndrome (MAS) may have symptoms related to bones, the endocrine system, and/or skin. The symptoms can range from mild to severe. Bone symptoms may include: Polyostotic fibrous dysplasia: This is when normal bone is replaced by softer, fibrous tissue. Polyostotic means the abnormal areas may occur in many bones; often they are confined to one side of the body. Replacement of bone with fibrous tissue may lead to fractures, uneven growth, and deformity. When it occurs in skull and jaw it can result in uneven growth of the face. This may also occur in the long bones; uneven growth of leg bones may cause limping. Abnormal curvature of the spine (scoliosis) Cancer: Bone lesions may become cancerous, but this happens in less than 1% of people with MAS. Endocrine symptoms may include: Early puberty: Girls with MAS usually reach puberty early. They often have menstrual bleeding by age 2 (as early as 4-6 months in some), many years before characteristics such as breast enlargement and pubic hair growth are evident. This early onset of menstruation is believed to be caused by excess estrogen, a female sex hormone produced by cysts that develop in one of the ovaries. Less commonly, boys with MAS may also experience early puberty. Enlarged thyroid gland: The thyroid gland may become enlarged (a condition called a goiter) or develop masses called nodules. About half of affected individuals produce excessive amounts of thyroid hormone (hyperthyroidism), resulting in a fast heart rate, high blood pressure, weight loss, tremors, sweating, and other symptoms. Increased production of growth hormone: The pituitary gland may produce too much growth hormone. This can result in acromegaly, a condition characterized by large hands and feet, arthritis, and distinctive facial features that are often described as \"coarse.\" Cushings syndrome: Rarely, individuals with MAS produce too much of the hormone cortisol in the adrenal glands. Cushing's syndrome causes weight gain in the face and upper body, slowed growth in children, fragile skin, fatigue, and other health problems. Skin symptoms may include: Cafe-au-lait spots: Individuals with MAS usually have light brown patches of skin called cafe-au-lait spots. Like the bone lesions, these spots often appear on only one side of the body. Most children have these spots from birth and the spots rarely grow. There are usually not any medical problems caused by these skin changes. The Human Phenotype Ontology provides the following list of signs and symptoms for McCune Albright syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Bone pain 90% Cafe-au-lait spot 90% Generalized hyperpigmentation 90% Hypophosphatemia 90% Precocious puberty 90% Recurrent fractures 90% Reduced bone mineral density 90% Skeletal dysplasia 90% Abnormality of coagulation 7.5% Abnormality of dental enamel 7.5% Abnormality of the palate 7.5% Carious teeth 7.5% Dental malocclusion 7.5% Elevated hepatic transaminases 7.5% Goiter 7.5% Hearing abnormality 7.5% Hypercortisolism 7.5% Hyperparathyroidism 7.5% Hyperthyroidism 7.5% Kyphosis 7.5% Long penis 7.5% Macrocephaly 7.5% Macroorchidism 7.5% Mandibular prognathia 7.5% Neoplasm of the breast 7.5% Neoplasm of the thyroid gland 7.5% Optic atrophy 7.5% Polycystic ovaries 7.5% Sarcoma 7.5% Tall stature 7.5% Testicular neoplasm 7.5% Blindness - Craniofacial hyperostosis - Facial asymmetry - Growth hormone excess - Hearing impairment - Intestinal polyposis - Large cafe-au-lait macules with irregular margins - Pathologic fracture - Phenotypic variability - Pituitary adenoma - Polyostotic fibrous dysplasia - Prolactin excess - Somatic mosaicism - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Spina Bifida ?"}, {"role": "assistant", "content": "Spina bifida (SB) is a neural tube defect (a disorder involving incomplete development of the brain, spinal cord, and/or their protective coverings) caused by the failure of the fetus's spine to close properly during the first month of pregnancy. Infants born with SB sometimes have an open lesion on their spine where significant damage to the nerves and spinal cord has occurred. Although the spinal opening can be surgically repaired shortly after birth, the nerve damage is permanent, resulting in varying degrees of paralysis of the lower limbs. Even when there is no lesion present there may be improperly formed or missing vertebrae and accompanying nerve damage. In addition to physical and mobility difficulties, most individuals have some form of learning disability. The types of SB are: myelomeningocele, the severest form, in which the spinal cord and its protective covering (the meninges) protrude from an opening in the spine; meningocele in which the spinal cord develops normally but the meninges and spinal fluid) protrude from a spinal opening; closed neural tube defects, which consist of a group of defects in which development of the spinal cord is affected by malformations of the fat, bone, or meninges; and and occulta, the mildest form, in which one or more vertebrae are malformed and covered by a layer of skin. SB may also cause bowel and bladder complications, and many children with SB have hydrocephalus (excessive accumulation of cerebrospinal fluid in the brain).", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Who is at risk for Wilms Tumor and Other Childhood Kidney Tumors? ?"}, {"role": "assistant", "content": "Having certain genetic syndromes or other conditions can increase the risk of Wilms tumor.\n Anything that increases the risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. Talk to your child's doctor if you think your child may be at risk. Wilms tumor may be part of a genetic syndrome that affects growth or development. A genetic syndrome is a set of signs and symptoms or conditions that occur together and is caused by certain changes in the genes. Certain conditions can also increase a child's risk of developing Wilms tumor. These and other genetic syndromes and conditions have been linked to Wilms tumor: - WAGR syndrome (Wilms tumor, aniridia, abnormal genitourinary system, and mental retardation). - Denys-Drash syndrome (abnormal genitourinary system). - Frasier syndrome (abnormal genitourinary system). - Beckwith-Wiedemann syndrome (abnormally large growth of one side of the body or a body part, large tongue, umbilical hernia at birth, and abnormal genitourinary system). - A family history of Wilms tumor. - Aniridia (the iris, the colored part of the eye, is missing). - Isolated hemihyperplasia (abnormally large growth of one side of the body or a body part). - Urinary tract problems such as cryptorchidism or hypospadias.\n \n \n Having certain conditions may increase the risk of renal cell cancer.\n Renal cell cancer may be related to the following conditions: - Von Hippel-Lindau disease (an inherited condition that causes abnormal growth of blood vessels). Children with Von Hippel-Lindau disease should be checked yearly for renal cell cancer with an ultrasound of the abdomen or an MRI (magnetic resonance imaging) beginning at age 8 to 11 years. - Tuberous sclerosis (an inherited disease marked by noncancerous fatty cysts in the kidney). - Familial renal cell cancer (an inherited condition that occurs when certain changes in the genes that cause kidney cancer are passed down from the parent to the child). - Renal medullary cancer (a rare kidney cancer that grows and spreads quickly). - Hereditary leiomyomatosis (an inherited disorder that increases the risk of having cancer of the kidney, skin, and uterus). Prior chemotherapy or radiation therapy for a childhood cancer, such as neuroblastoma, soft tissue sarcoma, leukemia, or Wilms tumor may also increase the risk of renal cell cancer. See the Second Cancers section in the PDQ summary about Late Effects of Treatment for Childhood Cancer for more information.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Coats disease ?"}, {"role": "assistant", "content": "Is genetic testing available for Coats disease? Genetic testing is not available for most cases of Coats disease. Eighty to 90% of affected people have no evidence of a genetic predisposition to the condition and no affected family members. Rarely, Coats disease can be inherited as a feature of several different genetic syndromes. For example, Coats disease has been reported in Senior-Loken syndrome, which is caused by changes (mutations) in one of several different genes, and Coats plus syndrome, which is caused by mutations in CTC1. Genetic testing is often an option for people affected by one of these conditions. How is Coats disease diagnosed? A diagnosis of Coats disease is often suspected based on the presense of characteristic signs and symptoms on thorough eye examination. Retinal fluorescein angiography, an imaging technique that uses a special dye and camera to look at blood flow in the retina, may be necessary to confirm the diagnosis. Ultrasonography, computed tomography (CT scan) and/or magnetic resonance imaging (MRI scan) are often performed to distinguish Coats disease from other conditions that affect the retina.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Empty Sella Syndrome ?"}, {"role": "assistant", "content": "Empty Sella Syndrome (ESS) is a disorder that involves the sella turcica, a bony structure at the base of the brain that surrounds and protects the pituitary gland. ESS is often discovered during radiological imaging tests for pituitary disorders. ESS occurs n up to 25 percent of the population.An individual with ESS may have no symptoms or may have symptoms resulting from partial or complete loss of pituitary function (including headaches, low sex drive, and impotence).There are two types of ESS: primary and secondary. Primary ESS happens when a small anatomical defect above the pituitary gland allows spinal fluid to partially or completely fill the sella turcica. This causes the gland to flatten out along the interior walls of the sella turcica cavity. Individuals with primary ESS may have high levels of the hormone prolactin, which can interfere with the normal function of the testicles and ovaries. Primary ESS is most common in adults and women, and is often associated with obesity and high blood pressure. In some instances the pituitary gland may be smaller than usual; this may be due to a condition called pseudotumor cerebri (which means \"false brain tumor,\" brought on by high pressure within the skull), In rare instances this high fluid pressure can be associated with drainage of spinal fluid through the nose. Secondary ESS is the result of the pituitary gland regressing within the cavity after an injury, surgery, or radiation therapy. Individuals with secondary ESS can sometimes have symptoms that reflect the loss of pituitary functions, such as the ceasing of menstrual periods, infertility, fatigue, and intolerance to stress and infection. In children, ESS may be associated with early onset of puberty, growth hormone deficiency, pituitary tumors, or pituitary gland dysfunction. Magnetic resonance imaging (MRI) scans are useful in evaluating ESS and for identifying underlying disorders that may be the cause of high fluid pressure.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Nonalcoholic Steatohepatitis ?"}, {"role": "assistant", "content": "Although NASH has become more common, its underlying cause is still not clear. It most often occurs in persons who are middle-aged and overweight or obese. Many patients with NASH have elevated blood lipids, such as cholesterol and triglycerides, and many have diabetes or prediabetes, but not every obese person or every patient with diabetes has NASH. Furthermore, some patients with NASH are not obese, do not have diabetes, and have normal blood cholesterol and lipids. NASH can occur without any apparent risk factor and can even occur in children. Thus, NASH is not simply obesity that affects the liver.\n \nWhile the underlying reason for the liver injury that causes NASH is not known, several factors are possible candidates:\n \n- insulin resistance - release of toxic inflammatory proteins by fat cells (cytokines) - oxidative stress (deterioration of cells) inside liver cells", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) BRCA2 hereditary breast and ovarian cancer syndrome ?"}, {"role": "assistant", "content": "BRCA2 hereditary breast and ovarian cancer syndrome (BRCA2 HBOC) is an inherited condition that is characterized by an increased risk for a variety of different cancers. Women with this condition have a 49-55% risk of developing breast cancer, a 16-18% risk of developing ovarian cancer and a 62% risk of developing contralateral breast cancer by age 70. Men have a 6% lifetime risk of breast cancer and an increased risk for prostate cancer. Both men and women with BRCA2 HBOC have an elevated risk for pancreatic cancer. BRCA2 HBOC may also be associated with cancers of the stomach, gallbladder, bile duct, esophagus, stomach, fallopian tube, primary peritoneum, and skin; however, these risks are not well defined. This condition is caused by changes (mutations) in the BRCA2 gene and is inherited in an autosomal dominant manner. Management may include high risk cancer screening, chemopreventation and/or prophylactic surgeries.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for gastrointestinal stromal tumor ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of gastrointestinal stromal tumor: - American Cancer Society: Treating Gastrointestinal Stromal Tumor (GIST) - Cancer.Net: Gastrointestinal Stromal Tumor--Diagnosis - Genetic Testing Registry: Gastrointestinal stromal tumor These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to hidradenitis suppurativa ?"}, {"role": "assistant", "content": "In most cases, the cause of hidradenitis suppurativa is unknown. The condition probably results from a combination of genetic and environmental factors. Originally, researchers believed that the disorder was caused by the blockage of specialized sweat glands called apocrine glands. However, recent studies have shown that the condition actually begins with a blockage of hair follicles in areas of the body that also contain a high concentration of apocrine glands (such as the armpits and groin). The blocked hair follicles trap bacteria, leading to inflammation and rupture. It remains unclear what initially causes the follicles to become blocked and why the nodules tend to recur. Genetic factors clearly play a role in causing hidradenitis suppurativa. Some cases have been found to result from mutations in the NCSTN, PSEN1, or PSENEN gene. The proteins produced from these genes are all components of a complex called gamma- (-) secretase. This complex cuts apart (cleaves) many different proteins, which is an important step in several chemical signaling pathways. One of these pathways, known as Notch signaling, is essential for the normal maturation and division of hair follicle cells and other types of skin cells. Notch signaling is also involved in normal immune system function. Studies suggest that mutations in the NCSTN, PSEN1, or PSENEN gene impair Notch signaling in hair follicles. Although little is known about the mechanism, abnormal Notch signaling appears to promote the development of nodules and lead to inflammation in the skin. Researchers are working to determine whether additional genes, particularly those that provide instructions for making other -secretase components, are also associated with hidradenitis suppurativa. Researchers have studied many other possible risk factors for hidradenitis suppurativa. Obesity and smoking both appear to increase the risk of the disorder, and obesity is also associated with increased severity of signs and symptoms in affected individuals. Studies suggest that neither abnormal immune system function nor hormonal factors play a significant role in causing the disease. Other factors that were mistakenly thought to be associated with this condition include poor hygiene, the use of underarm deodorants and antiperspirants, and shaving or the use of depilatory products to remove hair.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Iniencephaly ?"}, {"role": "assistant", "content": "There is no standard treatment for iniencephaly since most infants rarely live longer than a few hours. Medicine is based more on prevention using supplementation with folic acid. Numerous studies have demonstrated that mothers can reduce the risk of neural tube birth defects such as iniencephaly by up to 70 percent with daily supplements of at least 4 mg of folic acid. Pregnant women should avoid taking antiepileptic drugs, diuretics, antihistamines, and sulfa drugs, which have been shown to be associated with an increased risk of neural tube defects. Maternal obesity and diabetes are also known to increase the risk for these disorders.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) inherited thyroxine-binding globulin deficiency ?"}, {"role": "assistant", "content": "Inherited thyroxine-binding globulin deficiency is a genetic condition that typically does not cause any health problems. Thyroxine-binding globulin is a protein that carries hormones made or used by the thyroid gland, which is a butterfly-shaped tissue in the lower neck. Thyroid hormones play an important role in regulating growth, brain development, and the rate of chemical reactions in the body (metabolism). Most of the time, these hormones circulate in the bloodstream attached to thyroxine-binding globulin and similar proteins. If there is a shortage (deficiency) of thyroxine-binding globulin, the amount of circulating thyroid hormones is reduced. Researchers have identified two forms of inherited thyroxine-binding globulin deficiency: the complete form (TBG-CD), which results in a total loss of thyroxine-binding globulin, and the partial form (TBG-PD), which reduces the amount of this protein or alters its structure. Neither of these conditions causes any problems with thyroid function. They are usually identified during routine blood tests that measure thyroid hormones. Although inherited thyroxine-binding globulin deficiency does not cause any health problems, it can be mistaken for more serious thyroid disorders (such as hypothyroidism). Therefore, it is important to diagnose inherited thyroxine-binding globulin deficiency to avoid unnecessary treatments.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by fumarase deficiency ?"}, {"role": "assistant", "content": "Fumarase deficiency is a very rare disorder. Approximately 100 affected individuals have been reported worldwide. Several were born in an isolated religious community in the southwestern United States.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Impetigo ?"}, {"role": "assistant", "content": "Impetigo is a skin infection caused by bacteria. It is usually caused by staphylococcal (staph) bacteria, but it can also be caused by streptococcal (strep) bacteria. It is most common in children between the ages of two and six. It usually starts when bacteria get into a break in the skin, such as a cut, scratch, or insect bite. Symptoms start with red or pimple-like sores surrounded by red skin. These sores can be anywhere, but usually they occur on your face, arms and legs. The sores fill with pus, then break open after a few days and form a thick crust. They are often itchy, but scratching them can spread the sores. Impetigo can spread by contact with sores or nasal discharge from an infected person. You can treat impetigo with antibiotics. NIH: National Institute of Allergy and Infectious Diseases", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for 17-beta hydroxysteroid dehydrogenase 3 deficiency ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of 17-beta hydroxysteroid dehydrogenase 3 deficiency: - Genetic Testing Registry: Testosterone 17-beta-dehydrogenase deficiency - MedlinePlus Encyclopedia: Ambiguous Genitalia - MedlinePlus Encyclopedia: Intersex These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Verloove Vanhorick Brubakk syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Verloove Vanhorick Brubakk syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Verloove Vanhorick Brubakk syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal form of the vertebral bodies 90% Abnormality of pelvic girdle bone morphology 90% Abnormality of the femur 90% Abnormality of the metacarpal bones 90% Abnormality of the parathyroid gland 90% Aplasia/Hypoplasia of the lungs 90% Aplasia/Hypoplasia of the sacrum 90% Atresia of the external auditory canal 90% Cleft palate 90% Cryptorchidism 90% Limb undergrowth 90% Low-set, posteriorly rotated ears 90% Non-midline cleft lip 90% Tarsal synostosis 90% Abnormal localization of kidney 50% Finger syndactyly 50% Growth abnormality - Syndactyly - Truncus arteriosus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Pterygium colli mental retardation digital anomalies ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Pterygium colli mental retardation digital anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Pterygium colli mental retardation digital anomalies. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of calvarial morphology 90% Abnormality of the distal phalanx of finger 90% Abnormality of the pinna 90% Aplasia/Hypoplasia of the thumb 90% Cognitive impairment 90% Epicanthus 90% Highly arched eyebrow 90% Hypertelorism 90% Joint hypermobility 90% Low-set, posteriorly rotated ears 90% Lymphedema 90% Muscular hypotonia 90% Narrow forehead 90% Proximal placement of thumb 90% Ptosis 90% Upslanted palpebral fissure 90% Webbed neck 90% Brachycephaly - Broad distal phalanx of finger - Edema of the dorsum of feet - Edema of the dorsum of hands - Epicanthus inversus - Intellectual disability - Low-set ears - Posteriorly rotated ears - Protruding ear - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of 20p12.3 microdeletion syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of 20p12.3 microdeletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for 20p12.3 microdeletion syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Hypertelorism 90% Arrhythmia 50% Epicanthus 50% Hypoplasia of the zygomatic bone 50% Macrocephaly 50% Narrow mouth 50% Short stature 50% Abnormality of thumb phalanx 7.5% Atria septal defect 7.5% Full cheeks 7.5% Long philtrum 7.5% Muscular hypotonia 7.5% Pectus carinatum 7.5% Preaxial foot polydactyly 7.5% Seizures 7.5% Thickened helices 7.5% Ventriculomegaly 7.5% Wide nasal bridge 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Infantile myofibromatosis ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Infantile myofibromatosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Infantile myofibromatosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the metaphyses 90% Abnormality of the musculature 90% Bone cyst 90% Neoplasm of the skeletal system 90% Sarcoma 90% Abnormality of the skull 50% Abnormality of the thorax 50% Chondrocalcinosis 50% Gingival overgrowth 50% Neoplasm of the lung 50% Abnormality of the eye 7.5% Abnormality of the kidney 7.5% Abnormality of the sacrum 7.5% Benign neoplasm of the central nervous system 7.5% Hemiplegia/hemiparesis 7.5% Hypercalcemia 7.5% Intestinal obstruction 7.5% Irregular hyperpigmentation 7.5% Limitation of joint mobility 7.5% Neoplasm of the pancreas 7.5% Osteolysis 7.5% Skin ulcer 7.5% Tracheoesophageal fistula 7.5% Abnormality of connective tissue - Autosomal dominant inheritance - Fibroma - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "what research (or clinical trials) is being done for Joubert Syndrome ?"}, {"role": "assistant", "content": "The NINDS supports research on the development of the nervous system and the cerebellum. This research is critical for increasing our understanding of Joubert syndrome, and for developing methods of treatment and prevention. NINDS, in conjunction with the NIH Office of Rare Disorders, sponsored a symposium on Joubert syndrome in 2002. Research priorities for the disorder were outlined at this meeting.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by primary sclerosing cholangitis ?"}, {"role": "assistant", "content": "An estimated 1 in 10,000 people have primary sclerosing cholangitis, and the condition is diagnosed in approximately 1 in 100,000 people per year worldwide.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Lung Cancer ?"}, {"role": "assistant", "content": "Tobacco Products and Cancer Using tobacco products has been shown to cause cancer. In fact, smoking tobacco, using smokeless tobacco, and being exposed regularly to secondhand tobacco smoke are responsible for a large number of cancer deaths in the U.S. each year. Cigarette Smoking Causes Lung Cancer Cigarette smoking is the number one cause of lung cancer. Scientists have reported widely on the link between cancer and smoking since the 1960s. Since then, study after study has provided more proof that cigarette smoking is the primary cause of lung cancer. Before cigarette smoking became popular after World War I, doctors rarely, if ever, saw patients with lung cancer. But today, lung cancer is the leading cause of death by cancer. Over 85 percent of people with lung cancer developed it because they smoked cigarettes. If You Smoke If you smoke cigarettes, you are at much higher risk for lung cancer than a person who has never smoked. The risk of dying from lung cancer is 23 times higher for men who smoke and 13 times higher for women who smoke than for people who have never smoked. Lung cancer can affect young and old alike. Stopping smoking greatly reduces your risk for developing lung cancer. After you stop, your risk levels off. Ten years after the last cigarette, the risk of dying from lung cancer drops by 50 percent -- which does not mean, however, that risk is eliminated. (Watch the videos on this page to learn more about lung cancer, smoking and older adults. To enlarge the videos, click the brackets in the lower right-hand corner of the video screen. To reduce the videos, press the Escape (Esc) button on your keyboard.) Smoking cigars and pipes also puts you at risk for lung cancer. Cigar and pipe smokers have a higher risk of lung cancer than nonsmokers. Even cigar and pipe smokers who do not inhale are at increased risk for lung, mouth, and other types of cancer. The likelihood that a smoker will develop lung cancer is related to the age smoking began; how long the person smoked; the number of cigarettes, pipes, or cigars smoked per day; and how deeply the smoker inhaled. Learn about lung cancer prevention. Other Factors That Increase Your Risk - Many studies suggest that non-smokers who are exposed to environmental tobacco smoke, also called secondhand smoke, are at increased risk of lung cancer. Secondhand smoke is the smoke that non-smokers are exposed to when they share air space with someone who is smoking. Tobacco smoke contains more than 7,000 chemicals, including hundreds that are toxic and about 70 that can cause cancer. Since 1964, approximately 2,500,000 nonsmokers have died from health problems caused by exposure to secondhand smoke. - Exposure to radon can put a person at risk for lung cancer, too. People who work in mines may be exposed to this invisible, odorless, and radioactive gas that occurs naturally in soil and rocks. It is also found in houses in some parts of the country. A kit available at most hardware stores allows homeowners to measure radon levels in their homes. - Another substance that can contribute to lung cancer is asbestos. Asbestos has been used in shipbuilding, asbestos mining and manufacturing, insulation work, and brake repair, although products with asbestos have been largely phased out over the past several decades. If inhaled, asbestos particles can lodge in the lungs, damaging cells and increasing the risk for lung cancer. Many studies suggest that non-smokers who are exposed to environmental tobacco smoke, also called secondhand smoke, are at increased risk of lung cancer. Secondhand smoke is the smoke that non-smokers are exposed to when they share air space with someone who is smoking. Tobacco smoke contains more than 7,000 chemicals, including hundreds that are toxic and about 70 that can cause cancer. Since 1964, approximately 2,500,000 nonsmokers have died from health problems caused by exposure to secondhand smoke. Exposure to radon can put a person at risk for lung cancer, too. People who work in mines may be exposed to this invisible, odorless, and radioactive gas that occurs naturally in soil and rocks. It is also found in houses in some parts of the country. A kit available at most hardware stores allows homeowners to measure radon levels in their homes. Another substance that can contribute to lung cancer is asbestos. Asbestos has been used in shipbuilding, asbestos mining and manufacturing, insulation work, and brake repair, although products with asbestos have been largely phased out over the past several decades. If inhaled, asbestos particles can lodge in the lungs, damaging cells and increasing the risk for lung cancer. It's Never Too Late To Quit Researchers continue to study the causes of lung cancer and to search for ways to prevent it. We already know that the best way to prevent lung cancer is to quit or never start smoking. The sooner a person quits smoking the better. Even if you have been smoking for many years, it's never too late to benefit from quitting. Get Free Help To Quit Smoking - Each U.S. state and territory has a free quit line to provide you with information and resources to help you quit smoking. To reach the quit line in your area, dial toll-free, 1-800-QUIT-NOW (1-800-784-8669). Each U.S. state and territory has a free quit line to provide you with information and resources to help you quit smoking. To reach the quit line in your area, dial toll-free, 1-800-QUIT-NOW (1-800-784-8669). - Talk with a smoking cessation counselor from the National Cancer Institute (NCI) for help quitting and for answers to smoking-related questions in English or Spanish. Call toll free within the United States, Monday through Friday 8:00 a.m. to 8:00 p.m. Eastern Time.1-877-44U-QUIT (1-877-448-7848) Talk with a smoking cessation counselor from the National Cancer Institute (NCI) for help quitting and for answers to smoking-related questions in English or Spanish. Call toll free within the United States, Monday through Friday 8:00 a.m. to 8:00 p.m. Eastern Time.1-877-44U-QUIT (1-877-448-7848) - Get free information and advice about quitting smoking through a confidential online text chat with an information specialist from the National Cancer Institute's Cancer Information Service. Visit LiveHelp, available Monday through Friday, 8:00 a.m. to 11:00 p.m. Eastern Time. Get free information and advice about quitting smoking through a confidential online text chat with an information specialist from the National Cancer Institute's Cancer Information Service. Visit LiveHelp, available Monday through Friday, 8:00 a.m. to 11:00 p.m. Eastern Time. You can also get help to quit smoking at these websites. - Smokefree.gov. - Smokefree Women Smokefree.gov. Smokefree Women For adults 50 and older, check out Quitting Smoking for Older Adults.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) West Nile Virus ?"}, {"role": "assistant", "content": "West Nile virus (WNV) is an infectious disease that first appeared in the United States in 1999. Infected mosquitoes spread the virus that causes it. People who get WNV usually have no symptoms or mild symptoms. The symptoms include a fever, headache, body aches, skin rash, and swollen lymph glands. They can last a few days to several weeks, and usually go away on their own. If West Nile virus enters the brain, however, it can be life-threatening. It may cause inflammation of the brain, called encephalitis, or inflammation of the tissue that surrounds the brain and spinal cord, called meningitis. A physical exam, health history and laboratory tests can diagnose it. Older people and those with weakened immune systems are most at risk. There are no specific vaccines or treatments for human WNV disease. The best way to avoid WNV is to prevent mosquito bites: - Use insect repellent - Get rid of mosquito breeding sites by emptying standing water from flower pots, buckets or barrels - Stay indoors between dusk and dawn, when mosquitoes are most active - Use screens on windows to keep mosquitoes out NIH: National Institute of Allergy and Infectious Diseases", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Crohn's Disease ?"}, {"role": "assistant", "content": "Crohn's disease is a chronic, or long lasting, disease that causes inflammationirritation or swellingin the gastrointestinal (GI) tract. Most commonly, Crohn's affects the small intestine and the beginning of the large intestine. However, the disease can affect any part of the GI tract, from the mouth to the anus.\n \nCrohn's disease is a chronic inflammatory disease of the GI tract, called inflammatory bowel disease (IBD). Ulcerative colitis and microscopic colitis are the other common IBDs. More information is provided in the NIDDK health topics, Ulcerative Colitis and Microscopic Colitis: Collagenous Colitis and Lymphocytic Colitis.\n \nCrohn's disease most often begins gradually and can become worse over time. Most people have periods of remissiontimes when symptoms disappearthat can last for weeks or years.\n \nSome people with Crohn's disease receive care from a gastroenterologist, a doctor who specializes in digestive diseases.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "what research (or clinical trials) is being done for Atrial Fibrillation and Stroke ?"}, {"role": "assistant", "content": "The National Institute of Neurological Disorders and Stroke (NINDS) is the leading Federal agency directing and funding research relevant to AF and stroke prevention. The NINDS conducts basic and clinical research in its laboratories and clinics at the National Institutes of Health (NIH), and also supports additional research through grants to major research institutions across the country. Much of this research focuses on finding better ways to prevent, treat, and ultimately cure disorders such as AF that can increase the risk of stroke.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) hereditary myopathy with early respiratory failure ?"}, {"role": "assistant", "content": "Hereditary myopathy with early respiratory failure (HMERF) is an inherited muscle disease that predominantly affects muscles close to the center of the body (proximal muscles) and muscles that are needed for breathing. The major signs and symptoms of HMERF usually appear in adulthood, on average around age 35. Among the earliest muscles affected in HMERF are the neck flexors, which are muscles at the front of the neck that help hold the head up. Other proximal muscles that become weak in people with HMERF include those of the hips, thighs, and upper arms. Some affected individuals have also reported weakness in muscles of the lower leg and foot called the dorsal foot extensors. HMERF also causes severe weakness in muscles of the chest that are involved in breathing, particularly the diaphragm. This weakness leads to breathing problems and life-threatening respiratory failure.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by L1 syndrome ?"}, {"role": "assistant", "content": "L1 syndrome is estimated to occur in 1 in 25,000 to 60,000 males. Females are rarely affected by this condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is 21-hydroxylase deficiency inherited ?"}, {"role": "assistant", "content": "How is 21-hydroxylase-deficient congenital adrenal hyperplasia passed through families? 21-hydroxylase-deficient congenital adrenal hyperplasia has an autosomal recessive pattern of inheritance. In autosomal recessive conditions, both parents carry one copy of a mutated gene for the disorder. They have a 25 percent chance with each pregnancy of having a child affected by the disorder. The chance with each pregnancy of having an unaffected child who is a carrier of the disorder is 50 percent, and the chance that a child will not have the disorder and will not be a carrier is 25 percent. See the illustration below.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) campomelic dysplasia ?"}, {"role": "assistant", "content": "Campomelic dysplasia is a severe disorder that affects development of the skeleton, reproductive system, and other parts of the body. This condition is often life-threatening in the newborn period. The term \"campomelic\" comes from the Greek words for \"bent limb.\" Affected individuals are typically born with bowing of the long bones in the legs, and occasionally, bowing in the arms. Bowing can cause characteristic skin dimples to form over the curved bone, especially on the lower legs. People with campomelic dysplasia usually have short legs, dislocated hips, underdeveloped shoulder blades, 11 pairs of ribs instead of 12, bone abnormalities in the neck, and inward- and upward-turning feet (clubfeet). These skeletal abnormalities begin developing before birth and can often be seen on ultrasound. When affected individuals have features of this disorder but do not have bowed limbs, they are said to have acampomelic campomelic dysplasia. Many people with campomelic dysplasia have external genitalia that do not look clearly male or clearly female (ambiguous genitalia). Approximately 75 percent of affected individuals with a typical male chromosome pattern (46,XY) have ambiguous genitalia or normal female genitalia. Internal reproductive organs may not correspond with the external genitalia; the internal organs can be male (testes), female (ovaries), or a combination of the two. For example, an individual with female external genitalia may have testes or a combination of testes and ovaries. Affected individuals have distinctive facial features, including a small chin, prominent eyes, and a flat face. They also have a large head compared to their body size. A particular group of physical features, called Pierre Robin sequence, is common in people with campomelic dysplasia. Pierre Robin sequence includes an opening in the roof of the mouth (a cleft palate), a tongue that is placed further back than normal (glossoptosis), and a small lower jaw (micrognathia). People with campomelic dysplasia are often born with weakened cartilage that forms the upper respiratory tract. This abnormality, called laryngotracheomalacia, partially blocks the airway and causes difficulty breathing. Laryngotracheomalacia contributes to the poor survival of infants with campomelic dysplasia. Only a few people with campomelic dysplasia survive past infancy. As these individuals age, they may develop an abnormal curvature of the spine (scoliosis) and other spine abnormalities that compress the spinal cord. People with campomelic dysplasia may also have short stature and hearing loss.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Stroke ?"}, {"role": "assistant", "content": "Brain plasticity is the brain's ability to learn and change, allowing it to adapt to deficits and injury and to take over the functions of damaged cells. When cells in an area of the brain responsible for a particular function die after a stroke, the patient becomes unable to perform that function. However, the brain's ability torewire the connections between its nerve cells allows it to compensate for lost functions.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Cerebral Arteriosclerosis ?"}, {"role": "assistant", "content": "Cerebral arteriosclerosis is the result of thickening and hardening of the walls of the arteries in the brain. Symptoms of cerebral arteriosclerosis include headache, facial pain, and impaired vision.\n \nCerebral arteriosclerosis can cause serious health problems. If the walls of an artery are too thick, or a blood clot becomes caught in the narrow passage, blood flow to the brain can become blocked and cause an ischemic stroke. When the thickening and hardening is uneven, arterial walls can develop bulges (called aneurysms). If a bulge ruptures, bleeding in the brain can cause a hemorrhagic stroke. Both types of stroke can be fatal.\n \nCerebral arteriosclerosis is also related to a condition known as vascular dementia, in which small, symptom-free strokes cause cumulative damage and death to neurons (nerve cells) in the brain. Personality changes in the elderly, such as apathy, weeping, transient befuddlement, or irritability, might indicate that cerebral arteriosclerosis is present in the brain. Computer tomography (CT) and magnetic resonance imaging (MRI) of the brain can help reveal the presence of cerebral arteriosclerosis before ischemic strokes, hemorrhagic strokes, or vascular dementia develop.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) 3-methylglutaconyl-CoA hydratase deficiency ?"}, {"role": "assistant", "content": "3-methylglutaconyl-CoA hydratase deficiency is an inherited condition that causes neurological problems. Beginning in infancy to early childhood, children with this condition often have delayed development of mental and motor skills (psychomotor delay), speech delay, involuntary muscle cramping (dystonia), and spasms and weakness of the arms and legs (spastic quadriparesis). Affected individuals can also have optic atrophy, which is the degeneration (atrophy) of nerve cells that carry visual information from the eyes to the brain. In some cases, signs and symptoms of 3-methylglutaconyl-CoA hydratase deficiency begin in adulthood, often in a person's twenties or thirties. These individuals have damage to a type of brain tissue called white matter (leukoencephalopathy), which likely contributes to progressive problems with speech (dysarthria), difficulty coordinating movements (ataxia), stiffness (spasticity), optic atrophy, and a decline in intellectual function (dementia). Affected individuals who show symptoms of 3-methylglutaconyl-CoA hydratase deficiency in childhood often go on to develop leukoencephalopathy and other neurological problems in adulthood. All people with 3-methylglutaconyl-CoA hydratase deficiency accumulate large amounts of a substance called 3-methylglutaconic acid in their body fluids. As a result, they have elevated levels of acid in their blood (metabolic acidosis) and excrete large amounts of acid in their urine (aciduria). 3-methylglutaconyl-CoA hydratase deficiency is one of a group of metabolic disorders that can be diagnosed by the presence of increased levels 3-methylglutaconic acid in urine (3-methylglutaconic aciduria). People with 3-methylglutaconyl-CoA hydratase deficiency also have high urine levels of another acid called 3-methylglutaric acid.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Sandhoff Disease ?"}, {"role": "assistant", "content": "There is no specific treatment for Sandhoff disease. Supportive treatment includes proper nutrition and hydration and keeping the airway open. Anticonvulsants may initially control seizures.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Mastocytosis cutaneous with short stature conductive hearing loss and microtia ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Mastocytosis cutaneous with short stature conductive hearing loss and microtia? The Human Phenotype Ontology provides the following list of signs and symptoms for Mastocytosis cutaneous with short stature conductive hearing loss and microtia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the fontanelles or cranial sutures 90% Abnormality of the outer ear 90% Abnormality of the palate 90% Camptodactyly of finger 90% Clinodactyly of the 5th finger 90% Conductive hearing impairment 90% Hypermelanotic macule 90% Mastocytosis 90% Microcephaly 90% Muscular hypotonia 90% Optic atrophy 90% Proptosis 90% Pruritus 90% Seizures 90% Short stature 90% Thick lower lip vermilion 90% Triangular face 90% Upslanted palpebral fissure 90% Urticaria 90% Abnormal nasal morphology 7.5% Lower limb asymmetry 7.5% Prominent supraorbital ridges 7.5% Scoliosis 7.5% Abnormality of metabolism/homeostasis - Abnormality of skin pigmentation - Autosomal recessive inheritance - Cutaneous mastocytosis - Feeding difficulties - High palate - Intellectual disability - Microtia - Underdeveloped nasal alae - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Lipedema ?"}, {"role": "assistant", "content": "Lipedema is a syndrome characterized by symmetric enlargement of the legs due to deposits of fat beneath the skin, which is often painful. It is a common condition affecting up to 11% of women The underlying cause is currently unknown; however many people with lipedema have a family history of similarly enlarged legs. Hormones are also thought to play a role.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Craniometaphyseal dysplasia, autosomal recessive type ?"}, {"role": "assistant", "content": "What causes autosomal recessive craniometaphyseal dysplasia? Autosomal recessive craniometaphyseal dysplasia is caused by mutations in the GJA1 gene. The GJA1 gene provides instructions for making a protein called connexin43, which is one of 21 connexin proteins in humans. Connexins lay a role in cell-to-cell communication by forming channels, or gap junctions, between cells. Gap junctions allow for the transport of nutrients, charged particles (ions), and other small molecules that carry necessary communication signals between cells. Connexin43 is found in many human tissues, including eyes, skin, bine, ears, heart, and brain. Mutations in the GJA1 gene that cause autosomal recessive craniometaphyseal dysplasia appear to disrupt bone remodeling. The exact mechanism involved is yet to be determined.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Familial juvenile hyperuricaemic nephropathy ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Familial juvenile hyperuricaemic nephropathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial juvenile hyperuricaemic nephropathy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Gout - Juvenile onset - Nephropathy - Progressive - Renal insufficiency - Tubular atrophy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Spina bifida occulta ?"}, {"role": "assistant", "content": "Spina bifida occulta (SBO) occurs when the bones of the spinal column do not completely close around the developing nerves of the spinal cord. In most cases SBO causes no symptoms, however cases associated with back and urogenital problems have been reported. SBO has an estimated prevalence of 12.4%.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is adult-onset leukoencephalopathy with axonal spheroids and pigmented glia inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Heart Failure ?"}, {"role": "assistant", "content": "Keeping your cholesterol levels healthy can help prevent coronary artery disease. Your goal for LDL, or \"bad,\" cholesterol depends on how many other risk factors you have. Here are recommended LDL cholesterol goals. - If you don't have coronary heart disease or diabetes and have one or no risk factors, your LDL goal is less than 160 mg/dL. - If you don't have coronary heart disease or diabetes and have two or more risk factors, your LDL goal is less than 130 mg/dL. - If you do have coronary heart disease or diabetes, your LDL goal is less than 100 mg/dL. If you don't have coronary heart disease or diabetes and have one or no risk factors, your LDL goal is less than 160 mg/dL. If you don't have coronary heart disease or diabetes and have two or more risk factors, your LDL goal is less than 130 mg/dL. If you do have coronary heart disease or diabetes, your LDL goal is less than 100 mg/dL. The goal for HDL, or \"good,\" cholesterol is above 40 in men and above 50 in women. The goal for triglycerides, another fat in the blood, is below 150.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Diabetic Foot ?"}, {"role": "assistant", "content": "If you have diabetes, your blood glucose, or blood sugar, levels are too high. Over time, this can damage your nerves or blood vessels. Nerve damage from diabetes can cause you to lose feeling in your feet. You may not feel a cut, a blister or a sore. Foot injuries such as these can cause ulcers and infections. Serious cases may even lead to amputation. Damage to the blood vessels can also mean that your feet do not get enough blood and oxygen. It is harder for your foot to heal, if you do get a sore or infection. You can help avoid foot problems. First, control your blood sugar levels. Good foot hygiene is also crucial: - Check your feet every day - Wash your feet every day - Keep the skin soft and smooth - Smooth corns and calluses gently - If you can see, reach, and feel your feet, trim your toenails regularly. If you cannot, ask a foot doctor (podiatrist) to trim them for you. - Wear shoes and socks at all times - Protect your feet from hot and cold - Keep the blood flowing to your feet NIH: National Institute of Diabetes and Digestive and Kidney Diseases", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Breast Cancer ?"}, {"role": "assistant", "content": "How Tumors Form The body is made up of many types of cells. Normally, cells grow, divide and produce more cells as needed to keep the body healthy. Sometimes, however, the process goes wrong. Cells become abnormal and form more cells in an uncontrolled way. These extra cells form a mass of tissue, called a growth or tumor. Tumors can be benign, which means not cancerous, or malignant, which means cancerous. Breast cancer occurs when malignant tumors form in the breast tissue. Who Gets Breast Cancer? Breast cancer is one of the most common cancers in American women. It is most common among women between the ages of 45-85. (Watch the video to learn more about breast cancer survival rates. To enlarge the videos appearing on this page, click the brackets in the lower right-hand corner of the video screen. To reduce the videos, press the Escape (Esc) button on your keyboard.) Men can get breast cancer too, although they account for only 1 percent of all reported cases. Read more about breast cancer in men. When Breast Cancer Spreads When cancer grows in breast tissue and spreads outside the breast, cancer cells are often found in the lymph nodes under the arm. If the cancer has reached these nodes, it means that cancer cells may have spread, or metastasized, to other parts of the body. When cancer spreads from its original location in the breast to another part of the body such as the brain, it is called metastatic breast cancer, not brain cancer. Doctors sometimes call this \"distant\" disease. Learn about different kinds of breast cancer. Breast Cancer is Not Contagious Breast cancer is not contagious. A woman cannot \"catch\" breast cancer from other women who have the disease. Also, breast cancer is not caused by an injury to the breast. Most women who develop breast cancer do not have any known risk factors or a history of the disease in their families. Treating and Surviving Breast Cancer Today, more women are surviving breast cancer than ever before. Nearly three million women are breast cancer survivors. (Watch the video to hear a woman discuss surviving breast cancer.) There are several ways to treat breast cancer, but all treatments work best when the disease is found early. As a matter of fact, when it is caught in its earliest stage, 98.5 percent of women with the disease are alive five years later. Every day researchers are working to find new and better ways to detect and treat cancer. Many studies of new approaches for women with breast cancer are under way. With early detection, and prompt and appropriate treatment, the outlook for women with breast cancer can be positive. To learn more about what happens after treatment, see Surviving Cancer.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Freeman-Sheldon syndrome ?"}, {"role": "assistant", "content": "Freeman-Sheldon syndrome is a condition that primarily affects the face, hands, and feet. People with this disorder have a distinctive facial appearance including a small mouth (microstomia) with pursed lips, giving the appearance of a \"whistling face.\" For this reason, the condition is sometimes called \"whistling face syndrome.\" People with Freeman-Sheldon syndrome may also have a prominent forehead and brow ridges, a sunken appearance of the middle of the face (midface hypoplasia), a short nose, a long area between the nose and mouth (philtrum), deep folds in the skin between the nose and lips (nasolabial folds), full cheeks, and a chin dimple shaped like an \"H\" or \"V\". Affected individuals may have a number of abnormalities that affect the eyes. These may include widely spaced eyes (hypertelorism), deep-set eyes, outside corners of the eyes that point downward (down-slanting palpebral fissures), a narrowing of the eye opening (blepharophimosis), droopy eyelids (ptosis), and eyes that do not look in the same direction (strabismus). Other facial features that may occur in Freeman-Sheldon syndrome include an unusually small tongue (microglossia) and jaw (micrognathia) and a high arch in the roof of the mouth (high-arched palate). People with this disorder may have difficulty swallowing (dysphagia), a failure to gain weight and grow at the expected rate (failure to thrive), and respiratory complications that may be life-threatening. Speech problems are also common in this disorder. Some affected individuals have hearing loss. Freeman-Sheldon syndrome is also characterized by joint deformities (contractures) that restrict movement. People with this disorder typically have multiple contractures in the hands and feet at birth (distal arthrogryposis). These contractures lead to permanently bent fingers and toes (camptodactyly), a hand deformity in which all of the fingers are angled outward toward the fifth finger (ulnar deviation, also called \"windmill vane hand\"), and inward- and downward-turning feet (clubfoot). Affected individuals may also have a spine that curves to the side (scoliosis). People with Freeman-Sheldon syndrome also have an increased risk of developing a severe reaction to certain drugs used during surgery and other invasive procedures. This reaction is called malignant hyperthermia. Malignant hyperthermia occurs in response to some anesthetic gases, which are used to block the sensation of pain. A particular type of muscle relaxant may also trigger the reaction. If given these drugs, people at risk for malignant hyperthermia may experience muscle rigidity, breakdown of muscle fibers (rhabdomyolysis), a high fever, increased acid levels in the blood and other tissues (acidosis), and a rapid heart rate. The complications of malignant hyperthermia can be life-threatening unless they are treated promptly. Intelligence is unaffected in most people with Freeman-Sheldon syndrome, but approximately one-third have some degree of intellectual disability.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Ceroid lipofuscinosis neuronal 1 ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Ceroid lipofuscinosis neuronal 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Ceroid lipofuscinosis neuronal 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis - Ataxia - Autosomal recessive inheritance - Blindness - Cerebral atrophy - Decreased light- and dark-adapted electroretinogram amplitude - Depression - EEG abnormality - Flexion contracture - Hallucinations - Increased neuronal autofluorescent lipopigment - Intellectual disability - Irritability - Loss of speech - Macular degeneration - Muscular hypotonia - Myoclonus - Onset - Optic atrophy - Postnatal microcephaly - Progressive microcephaly - Progressive visual loss - Psychomotor deterioration - Retinal degeneration - Seizures - Sleep disturbance - Spasticity - Undetectable electroretinogram - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Infectious Arthritis ?"}, {"role": "assistant", "content": "Most kinds of arthritis cause pain and swelling in your joints. Joints are places where two bones meet, such as your elbow or knee. Infectious arthritis is an infection in the joint. The infection comes from a bacterial, viral, or fungal infection that spreads from another part of the body. Symptoms of infectious arthritis include - Intense pain in the joint - Joint redness and swelling - Chills and fever - Inability to move the area with the infected joint One type of infectious arthritis is reactive arthritis. The reaction is to an infection somewhere else in your body. The joint is usually the knee, ankle, or toe. Sometimes, reactive arthritis is set off by an infection in the bladder, or in the urethra, which carries urine out of the body. In women, an infection in the vagina can cause the reaction. For both men and women, it can start with bacteria passed on during sex. Another form of reactive arthritis starts with eating food or handling something that has bacteria on it. To diagnose infectious arthritis, your health care provider may do tests of your blood, urine, and joint fluid. Treatment includes medicines and sometimes surgery.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Giant congenital nevus ?"}, {"role": "assistant", "content": "How might giant congenital nevus be treated? Treatment for giant congenital nevus depends on the age of the affected individual as well as the size, location, and thickness of the nevus. Surgery may be done to remove the nevus, particularly when there is a concern that it may develop into a melanoma. When small nevi are removed, the surrounding skin can often be pulled together with stitches. Larger nevi may need to be removed in several stages and full-thickness skin grafts may be needed to help the skin heal following surgery. Laser treatments may be used for superficial skin imperfections, including reducing pigment and hair, but cannot completely remove the nevus. Affected individuals should self-monitor and continue to have regular skin examinations to check for benign or malignant tumors. Early awareness will allow their physicians to adjust treatment protocols accordingly. Children are most likely to show neurological signs before primary school and can respond well to a range of symptomatic therapies.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Lafora progressive myoclonus epilepsy ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of Lafora progressive myoclonus epilepsy: - Gene Review: Gene Review: Progressive Myoclonus Epilepsy, Lafora Type - Genetic Testing Registry: Lafora disease - MedlinePlus Encyclopedia: Epilepsy - MedlinePlus Encyclopedia:Generalized Tonic-Clonic Seizure These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for protein S deficiency ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of protein S deficiency: - Genetic Testing Registry: Protein S deficiency - MedlinePlus Encyclopedia: Congenital Protein C or S Deficiency - MedlinePlus Encyclopedia: Necrosis - MedlinePlus Encyclopedia: Protein S - MedlinePlus Encyclopedia: Purpura These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What to do for Am I at Risk for Type 2 Diabetes? Taking Steps to Lower Your Risk of Getting Diabetes ?"}, {"role": "assistant", "content": "Your eating, diet, and nutrition choices play an important role in preventing or delaying diabetes. Follow the suggestions below to reach and maintain a reasonable weight and make wise food choices most of the time. Remember that it can take time to change your habits and be patient with yourself. You can also get help from a dietitian or join a weight-loss program to support you while you reach your goals.\n \n\n \nReach and Maintain a Reasonable Body Weight\n \nYour weight affects your health in many ways. Being overweight can keep your body from making and using insulin properly. Excess body weight can also cause high blood pressure. Every pound you lose lowers your risk of getting diabetes.\n \nIn addition to weight, the location of excess fat on the body can be important. A waist measurement of 40 inches or more for men and 35 inches or more for women is linked to insulin resistance and increases a persons risk for type 2 diabetes. This is true even if your BMI falls within the normal range.\n \n\n \nFind Your BMI\n \nThe BMI is a measure of body weight relative to height. The BMI can help you find out whether you are normal weight, overweight, or obese. Use the table on pages 24 and 25 to find your BMI.\n \n- Find your height in the left-hand column. - Move across in the same row to the number closest to your weight. - The number at the top of that column is your BMI. Check the word above your BMI to see whether you are normal weight, overweight, or obese.\n \nThe BMI has certain limitations. The BMI may overestimate body fat in athletes and others who have a muscular build and underestimate body fat in older adults and others who have lost muscle.\n \nThe BMI for children and teens must be determined based on age, height, weight, and sex. The Centers for Disease Control and Prevention (CDC) has information about BMI in children and teens, including a BMI calculator, at www.cdc.gov/nccdphp/dnpa/bmi. The CDC website also has a BMI calculator for adults. A BMI calculator from the NIH is available at www.nhlbi.nih.gov/health/educational/lose_wt/BMI/bmicalc.htm.\n \nThe NIH also has a free smartphone app for calculating BMI. You can search My BMI Calculator on your phone to find the app. The app also provides links to information about steps you can take to bring your BMI into a healthy range.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "what research (or clinical trials) is being done for Mucolipidoses ?"}, {"role": "assistant", "content": "The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge of the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. Investigators are conducting studies to determine the effects of ML genetic mutations in various animal models of the disease. Studying the disease mechanisms in these models may allow scientists to develop treatments for people with an ML disorder.Clinical trials include a natural history of individuals with ML IV, to better understand the disease and identify potential outcomes, and longitudinal studies to better understand disease progression, assess current therapies, and identify potential treatments.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Gastrointestinal Carcinoid Tumors ?"}, {"role": "assistant", "content": "Some gastrointestinal carcinoid tumors have no signs or symptoms in the early stages.Signs and symptoms may be caused by the growth of the tumor and/or the hormones the tumor makes. Some tumors, especially tumors of the stomach or appendix, may not cause signs or symptoms. Carcinoid tumors are often found during tests or treatments for other conditions. Carcinoid tumors in the small intestine (duodenum, jejunum, and ileum), colon, and rectum sometimes cause signs or symptoms as they grow or because of the hormones they make. Other conditions may cause the same signs or symptoms. Check with your doctor if you have any of the following: - Duodenum Signs and symptoms of GI carcinoid tumors in the duodenum (first part of the small intestine, that connects to the stomach) may include the following: - Abdominal pain. - Constipation. - Diarrhea. - Change in stool color. - Nausea. - Vomiting. - Jaundice (yellowing of the skin and whites of the eyes). - Heartburn. - Jejunum and ileum Signs and symptoms of GI carcinoid tumors in the jejunum (middle part of the small intestine) and ileum (last part of the small intestine, that connects to the colon) may include the following: - Abdominal pain. - Weight loss for no known reason. - Feeling very tired. - Feeling bloated - Diarrhea. - Nausea. - Vomiting. - Colon Signs and symptoms of GI carcinoid tumors in the colon may include the following: - Abdominal pain. - Weight loss for no known reason. - Rectum Signs and symptoms of GI carcinoid tumors in the rectum may include the following: - Blood in the stool. - Pain in the rectum. - Constipation.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by mitochondrial membrane protein-associated neurodegeneration ?"}, {"role": "assistant", "content": "MPAN is a rare condition that is estimated to affect less than 1 in 1 million people.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "what research (or clinical trials) is being done for Benign Essential Blepharospasm ?"}, {"role": "assistant", "content": "The NINDS supports a broad program of research on disorders of the nervous system, including BEB. Much of this research is aimed at increasing understanding of these disorders and finding ways to prevent, treat, and cure them.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Fatal familial insomnia inherited ?"}, {"role": "assistant", "content": "How is fatal familial insomnia inherited? Fatal familial insomnia (FFI) is inherited in an autosomal dominant manner. This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene. These cases occur in people with no history of the disorder in their family. A person with FFI has a 50% chance with each pregnancy of passing along the altered gene to his or her child.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is hereditary leiomyomatosis and renal cell cancer inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Pulmonary Embolism ?"}, {"role": "assistant", "content": "Major Signs and Symptoms\n \nSigns and symptoms of pulmonary embolism (PE) include unexplained shortness of breath, problems breathing, chest pain, coughing, or coughing up blood. An arrhythmia (irregular heartbeat) also may suggest that you have PE.\n \nSometimes the only signs and symptoms are related to deep vein thrombosis (DVT). These include swelling of the leg or along a vein in the leg, pain or tenderness in the leg, a feeling of increased warmth in the area of the leg that's swollen or tender, and red or discolored skin on the affected leg.\n \nSee your doctor right away if you have any signs or symptoms of PE or DVT. It's also possible to have PE and not have any signs or symptoms.\n \nOther Signs and Symptoms\n \nSome people who have PE have feelings of anxiety or dread, light-headedness or fainting, rapid breathing, sweating, or an increased heart rate.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Disseminated Intravascular Coagulation ?"}, {"role": "assistant", "content": "Some diseases and conditions can disrupt the body's normal blood clotting process and lead to disseminated intravascular coagulation (DIC). These diseases and conditions include:\n \nSepsis (an infection in the bloodstream)\n \nSurgery and trauma\n \nCancer\n \nSerious complications of pregnancy and childbirth\n \nExamples of less common causes of DIC are bites from poisonous snakes (such as rattlesnakes and other vipers), frostbite, and burns.\n \nThe two types of DIC are acute and chronic. Acute DIC begins with clotting in the small blood vessels and quickly leads to serious bleeding. Chronic DIC causes blood clotting, but it usually doesn't lead to bleeding. Cancer is the most common cause of chronic DIC.\n \nSimilar Clotting Conditions\n \nTwo other conditions cause blood clotting in the small blood vessels. However, their causes and treatments differ from those of DIC.\n \nThese conditions are thrombotic thrombocytopenic purpura (throm-BOT-ik throm-bo-cy-toe-PEE-nick PURR-purr-ah), or TTP, and hemolytic-uremic syndrome (HUS). HUS is more common in children than adults. It's also more likely to cause kidney damage than TTP.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Dizziness and Vertigo ?"}, {"role": "assistant", "content": "When you're dizzy, you may feel lightheaded or lose your balance. If you feel that the room is spinning, you have vertigo. A sudden drop in blood pressure or being dehydrated can make you dizzy. Many people feel lightheaded if they get up too quickly from sitting or lying down. Dizziness usually gets better by itself or is easily treated. However, it can be a symptom of other disorders. Medicines may cause dizziness, or problems with your ear. Motion sickness can also make you dizzy. There are many other causes. If you are dizzy often, you should see your health care provider to find the cause.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for supravalvular aortic stenosis ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of supravalvular aortic stenosis: - Children's Hospital of Philadelphia - Genetic Testing Registry: Supravalvar aortic stenosis - Monroe Carell Jr. Children's Hospital at Vanderbilt These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) craniofacial microsomia ?"}, {"role": "assistant", "content": "Craniofacial microsomia is a term used to describe a spectrum of abnormalities that primarily affect the development of the skull (cranium) and face before birth. Microsomia means abnormal smallness of body structures. Most people with craniofacial microsomia have differences in the size and shape of facial structures between the right and left sides of the face (facial asymmetry). In about two-thirds of cases, both sides of the face have abnormalities, which usually differ from one side to the other. Other individuals with craniofacial microsomia are affected on only one side of the face. The facial characteristics in craniofacial microsomia typically include underdevelopment of one side of the upper or lower jaw (maxillary or mandibular hypoplasia), which can cause dental problems and difficulties with feeding and speech. In cases of severe mandibular hypoplasia, breathing may also be affected. People with craniofacial microsomia usually have ear abnormalities affecting one or both ears, typically to different degrees. They may have growths of skin (skin tags) in front of the ear (preauricular tags), an underdeveloped or absent external ear (microtia or anotia), or a closed or absent ear canal; these abnormalities may lead to hearing loss. Eye problems are less common in craniofacial microsomia, but some affected individuals have an unusually small eyeball (microphthalmia) or other eye abnormalities that result in vision loss. Abnormalities in other parts of the body, such as malformed bones of the spine (vertebrae), abnormally shaped kidneys, and heart defects, may also occur in people with craniofacial microsomia. Many other terms have been used for craniofacial microsomia. These other names generally refer to forms of craniofacial microsomia with specific combinations of signs and symptoms, although sometimes they are used interchangeably. Hemifacial microsomia often refers to craniofacial microsomia with maxillary or mandibular hypoplasia. People with hemifacial microsomia and noncancerous (benign) growths in the eye called epibulbar dermoids may be said to have Goldenhar syndrome or oculoauricular dysplasia.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for dyserythropoietic anemia and thrombocytopenia ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of dyserythropoietic anemia and thrombocytopenia: - Gene Review: Gene Review: GATA1-Related X-Linked Cytopenia - Genetic Testing Registry: GATA-1-related thrombocytopenia with dyserythropoiesis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Skin Conditions ?"}, {"role": "assistant", "content": "Your skin is your body's largest organ. It covers and protects your body. Your skin - Holds body fluids in, preventing dehydration - Keeps harmful microbes out, preventing infections - Helps you feel things like heat, cold, and pain - Keeps your body temperature even - Makes vitamin D when the sun shines on it Anything that irritates, clogs, or inflames your skin can cause symptoms such as redness, swelling, burning, and itching. Allergies, irritants, your genetic makeup, and certain diseases and immune system problems can cause rashes, hives, and other skin conditions. Many skin problems, such as acne, also affect your appearance. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Hairy Cell Leukemia ?"}, {"role": "assistant", "content": "Key Points\n - There are different types of treatment for patients with hairy cell leukemia. - Five types of standard treatment are used: - Watchful waiting - Chemotherapy - Biologic therapy - Surgery - Targeted therapy - New types of treatment are being tested in clinical trials. - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed.\n \n \n There are different types of treatment for patients with hairy cell leukemia.\n Different types of treatment are available for patients with hairy cell leukemia. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Patients may want to think about taking part in a clinical trial. Some clinical trials are open only to patients who have not started treatment.\n \n \n Five types of standard treatment are used:\n Watchful waiting Watchful waiting is closely monitoring a patient's condition, without giving any treatment until signs or symptoms appear or change. Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). The way the chemotherapy is given depends on the type and stage of the cancer being treated. Cladribine and pentostatin are anticancer drugs commonly used to treat hairy cell leukemia. These drugs may increase the risk of other types of cancer, especially Hodgkin lymphoma and non-Hodgkin lymphoma. Long-term follow up for second cancers is very important. Biologic therapy Biologic therapy is a cancer treatment that uses the patients immune system to fight cancer. Substances made by the body or made in a laboratory are used to boost, direct, or restore the bodys natural defenses against cancer. This type of cancer treatment is also called biotherapy or immunotherapy. Interferon alfa is a biologic agent commonly used to treat hairy cell leukemia. See Drugs Approved for Hairy Cell Leukemia for more information. Surgery Splenectomy is a surgical procedure to remove the spleen. Targeted therapy Targeted therapy is a treatment that uses drugs or other substances to identify and attack specific cancer cells without harming normal cells. Monoclonal antibody therapy is a type of targeted therapy used to treat hairy cell leukemia. Monoclonal antibody therapy uses antibodies made in the laboratory from a single type of immune system cell. These antibodies can identify substances on cancer cells or normal substances that may help cancer cells grow. The antibodies attach to the substances and kill the cancer cells, block their growth, or keep them from spreading. Monoclonal antibodies are given by infusion. They may be used alone or to carry drugs, toxins, or radioactive material directly to cancer cells. A monoclonal antibody called rituximab may be used for certain patients with hairy cell leukemia. Other types of targeted therapies are being studied.\n \n \n New types of treatment are being tested in clinical trials.\n Information about clinical trials is available from the NCI website.\n \n \n Patients may want to think about taking part in a clinical trial.\n For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward.\n \n \n Patients can enter clinical trials before, during, or after starting their cancer treatment.\n Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.\n \n \n Follow-up tests may be needed.\n Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups.\n \n \n\t\t\t\t\t\t\t\t\t\t\t\t Treatment Options for Hairy Cell Leukemia\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t \n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t \n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t Untreated Hairy Cell Leukemia\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t If the patient's blood cell counts are not too low and there are no signs or symptoms, treatment may not be needed and the patient is carefully watched for changes in his or her condition. If blood cell counts become too low or if signs or symptoms appear, initial treatment may include the following: - Chemotherapy. - Splenectomy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with untreated hairy cell leukemia. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t \n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t \n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t Progressive Hairy Cell Leukemia\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t Treatment for progressive hairy cell leukemia may include the following: - Chemotherapy. - Biologic therapy. - Splenectomy. - A clinical trial of chemotherapy and targeted therapy with a monoclonal antibody (rituximab). Check the list of NCI-supported cancer clinical trials that are now accepting patients with progressive hairy cell leukemia, initial treatment. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t \n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t \n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t Relapsed or Refractory Hairy Cell Leukemia\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t Treatment of relapsed or refractory hairy cell leukemia may include the following: - Chemotherapy. - Biologic therapy. - Targeted therapy with a monoclonal antibody (rituximab). - High-dose chemotherapy. - A clinical trial of a new biologic therapy. - A clinical trial of a new targeted therapy. - A clinical trial of chemotherapy and targeted therapy with a monoclonal antibody (rituximab). Check the list of NCI-supported cancer clinical trials that are now accepting patients with refractory hairy cell leukemia. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Autoimmune autonomic ganglionopathy ?"}, {"role": "assistant", "content": "Autoimmune autonomic ganglionopathy (AAG) is rare autoimmune disorder in which the body's immune system mistakenly attacks and damages certain parts of the autonomic nervous system. Signs and symptoms of the condition vary but may include severe orthostatic hypotension (low blood pressure upon standing); fainting; constipation; fixed and dilated pupils; urinary retention; and/or dry mouth and eyes. The exact underlying cause of AAG is poorly understood. Treatment depends on many factors including the severity of the condition and the signs and symptoms present in each person. Due to the rarity of AAG, there are no standard treatment protocols; however, treatment with plasmapheresis, intravenous (IV) immunoglobulin, corticosteroids or immunosuppressive drugs has been reported with variable success. Approximately one third of affected people may improve spontaneously without treatment, but the recovery is often incomplete.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Achondrogenesis type 1A ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Achondrogenesis type 1A? The Human Phenotype Ontology provides the following list of signs and symptoms for Achondrogenesis type 1A. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of bone mineral density 90% Anteverted nares 90% Aplasia/Hypoplasia of the lungs 90% Frontal bossing 90% Hydrops fetalis 90% Long philtrum 90% Macrocephaly 90% Malar flattening 90% Micromelia 90% Narrow chest 90% Short neck 90% Short nose 90% Short thorax 90% Skeletal dysplasia 90% Thickened nuchal skin fold 90% Brachydactyly syndrome 50% Polyhydramnios 50% Recurrent fractures 50% Short toe 50% Umbilical hernia 50% Cystic hygroma 7.5% Abnormal foot bone ossification - Abnormal hand bone ossification - Abnormality of the femoral metaphysis - Autosomal recessive inheritance - Barrel-shaped chest - Beaded ribs - Broad clavicles - Decreased skull ossification - Depressed nasal bridge - Disproportionate short-trunk short stature - Hypoplasia of the radius - Hypoplastic ischia - Hypoplastic scapulae - Protuberant abdomen - Short clavicles - Short ribs - Stillbirth - Unossified vertebral bodies - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Gamma heavy chain disease ?"}, {"role": "assistant", "content": "How might gamma heavy chain disease be treated? People with symptoms may respond to chemotherapy drugs, corticosteroids, and radiation therapy. Commonly used chemotherapeutic agents include cyclophosphamide, prednisone, vincristine, chlorambucil and doxorubicin. Patients are most commonly treated and followed by oncologists and/or hematologists. Additional information about treatment of gamma heavy chain disease can be found through PubMed, a searchable database of biomedical journal articles. Although not all of the articles are available for free online, most articles listed in PubMed have a summary available. To obtain the full article, contact a medical/university library or your local library for interlibrary loan. You can also order articles online through the publisher's Web site. Using \"gamma heavy chain disease [ti] AND treatment\" as your search term should help you locate articles. Use the advanced search feature to narrow your results. Click here to view a search.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What to do for Foodborne Illnesses ?"}, {"role": "assistant", "content": "The following steps may help relieve the symptoms of foodborne illnesses and prevent dehydration in adults:\n \n- drinking plenty of liquids such as fruit juices, sports drinks, caffeine-free soft drinks, and broths to replace fluids and electrolytes - sipping small amounts of clear liquids or sucking on ice chips if vomiting is still a problem - gradually reintroducing food, starting with bland, easy-to-digest foods such as rice, potatoes, toast or bread, cereal, lean meat, applesauce, and bananas - avoiding fatty foods, sugary foods, dairy products, caffeine, and alcohol until recovery is complete\n \nInfants and children present special concerns. Infants and children are likely to become dehydrated more quickly from diarrhea and vomiting because of their smaller body size. The following steps may help relieve symptoms and prevent dehydration in infants and children:\n \n- giving oral rehydration solutions such as Pedialyte, Naturalyte, Infalyte, and CeraLyte to prevent dehydration - giving food as soon as the child is hungry - giving infants breast milk or fullstrength formula, as usual, along with oral rehydration solutions\n \nOlder adults and adults with weak immune systems should also drink oral rehydration solutions to prevent dehydration.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) progressive familial intrahepatic cholestasis ?"}, {"role": "assistant", "content": "Progressive familial intrahepatic cholestasis (PFIC) is a disorder that causes progressive liver disease, which typically leads to liver failure. In people with PFIC, liver cells are less able to secrete a digestive fluid called bile. The buildup of bile in liver cells causes liver disease in affected individuals. Signs and symptoms of PFIC typically begin in infancy and are related to bile buildup and liver disease. Specifically, affected individuals experience severe itching, yellowing of the skin and whites of the eyes (jaundice), failure to gain weight and grow at the expected rate (failure to thrive), high blood pressure in the vein that supplies blood to the liver (portal hypertension), and an enlarged liver and spleen (hepatosplenomegaly). There are three known types of PFIC: PFIC1, PFIC2, and PFIC3. The types are also sometimes described as shortages of particular proteins needed for normal liver function. Each type has a different genetic cause. In addition to signs and symptoms related to liver disease, people with PFIC1 may have short stature, deafness, diarrhea, inflammation of the pancreas (pancreatitis), and low levels of fat-soluble vitamins (vitamins A, D, E, and K) in the blood. Affected individuals typically develop liver failure before adulthood. The signs and symptoms of PFIC2 are typically related to liver disease only; however, these signs and symptoms tend to be more severe than those experienced by people with PFIC1. People with PFIC2 often develop liver failure within the first few years of life. Additionally, affected individuals are at increased risk of developing a type of liver cancer called hepatocellular carcinoma. Most people with PFIC3 have signs and symptoms related to liver disease only. Signs and symptoms of PFIC3 usually do not appear until later in infancy or early childhood; rarely, people are diagnosed in early adulthood. Liver failure can occur in childhood or adulthood in people with PFIC3.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Cardiomyopathy dilated with woolly hair and keratoderma ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Cardiomyopathy dilated with woolly hair and keratoderma? The Human Phenotype Ontology provides the following list of signs and symptoms for Cardiomyopathy dilated with woolly hair and keratoderma. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Hypertrophic cardiomyopathy 90% Palmoplantar keratoderma 90% Woolly hair 90% Abnormal blistering of the skin 7.5% Congestive heart failure 7.5% Ventricular tachycardia 5% Autosomal dominant inheritance - Congenital bullous ichthyosiform erythroderma - Dilated cardiomyopathy - Reduced number of teeth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Talonavicular coalition ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Talonavicular coalition? The Human Phenotype Ontology provides the following list of signs and symptoms for Talonavicular coalition. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Clinodactyly of the 5th finger - Proximal/middle symphalangism of 5th finger - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) mitochondrial trifunctional protein deficiency ?"}, {"role": "assistant", "content": "Mitochondrial trifunctional protein deficiency is a rare condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). Signs and symptoms of mitochondrial trifunctional protein deficiency may begin during infancy or later in life. Features that occur during infancy include feeding difficulties, lack of energy (lethargy), low blood sugar (hypoglycemia), weak muscle tone (hypotonia), and liver problems. Infants with this disorder are also at high risk for serious heart problems, breathing difficulties, coma, and sudden death. Signs and symptoms of mitochondrial trifunctional protein deficiency that may begin after infancy include hypotonia, muscle pain, a breakdown of muscle tissue, and a loss of sensation in the extremities (peripheral neuropathy). Problems related to mitochondrial trifunctional protein deficiency can be triggered by periods of fasting or by illnesses such as viral infections. This disorder is sometimes mistaken for Reye syndrome, a severe disorder that may develop in children while they appear to be recovering from viral infections such as chicken pox or flu. Most cases of Reye syndrome are associated with the use of aspirin during these viral infections.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Autoimmune Diseases ?"}, {"role": "assistant", "content": "Your body's immune system protects you from disease and infection. But if you have an autoimmune disease, your immune system attacks healthy cells in your body by mistake. Autoimmune diseases can affect many parts of the body. No one is sure what causes autoimmune diseases. They do tend to run in families. Women - particularly African-American, Hispanic-American, and Native-American women - have a higher risk for some autoimmune diseases. There are more than 80 types of autoimmune diseases, and some have similar symptoms. This makes it hard for your health care provider to know if you really have one of these diseases, and if so, which one. Getting a diagnosis can be frustrating and stressful. Often, the first symptoms are fatigue, muscle aches and a low fever. The classic sign of an autoimmune disease is inflammation, which can cause redness, heat, pain and swelling. The diseases may also have flare-ups, when they get worse, and remissions, when symptoms get better or disappear. Treatment depends on the disease, but in most cases one important goal is to reduce inflammation. Sometimes doctors prescribe corticosteroids or other drugs that reduce your immune response.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) familial adenomatous polyposis ?"}, {"role": "assistant", "content": "Familial adenomatous polyposis (FAP) is an inherited disorder characterized by cancer of the large intestine (colon) and rectum. People with the classic type of familial adenomatous polyposis may begin to develop multiple noncancerous (benign) growths (polyps) in the colon as early as their teenage years. Unless the colon is removed, these polyps will become malignant (cancerous). The average age at which an individual develops colon cancer in classic familial adenomatous polyposis is 39 years. Some people have a variant of the disorder, called attenuated familial adenomatous polyposis, in which polyp growth is delayed. The average age of colorectal cancer onset for attenuated familial adenomatous polyposis is 55 years. In people with classic familial adenomatous polyposis, the number of polyps increases with age, and hundreds to thousands of polyps can develop in the colon. Also of particular significance are noncancerous growths called desmoid tumors. These fibrous tumors usually occur in the tissue covering the intestines and may be provoked by surgery to remove the colon. Desmoid tumors tend to recur after they are surgically removed. In both classic familial adenomatous polyposis and its attenuated variant, benign and malignant tumors are sometimes found in other places in the body, including the duodenum (a section of the small intestine), stomach, bones, skin, and other tissues. People who have colon polyps as well as growths outside the colon are sometimes described as having Gardner syndrome. A milder type of familial adenomatous polyposis, called autosomal recessive familial adenomatous polyposis, has also been identified. People with the autosomal recessive type of this disorder have fewer polyps than those with the classic type. Fewer than 100 polyps typically develop, rather than hundreds or thousands. The autosomal recessive type of this disorder is caused by mutations in a different gene than the classic and attenuated types of familial adenomatous polyposis.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is prostate cancer inherited ?"}, {"role": "assistant", "content": "Many cases of prostate cancer are not related to inherited gene changes. These cancers are associated with somatic mutations that occur only in certain cells in the prostate. When prostate cancer is related to inherited gene changes, the way that cancer risk is inherited depends on the gene involved. For example, mutations in the BRCA1, BRCA2, and HOXB13 genes are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to increase a person's chance of developing cancer. In other cases, the inheritance of prostate cancer risk is unclear. It is important to note that people inherit an increased risk of cancer, not the disease itself. Not all people who inherit mutations in these genes will develop cancer.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Todd's Paralysis ?"}, {"role": "assistant", "content": "There is no treatment for Todd's paralysis. Individuals must rest as comfortably as possible until the paralysis disappears.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Graves' Disease ?"}, {"role": "assistant", "content": "People with Graves disease may have common symptoms of hyperthyroidism such as\n \n- nervousness or irritability - fatigue or muscle weakness - heat intolerance - trouble sleeping - hand tremors - rapid and irregular heartbeat - frequent bowel movements or diarrhea - weight loss - goiter, which is an enlarged thyroid that may cause the neck to look swollen and can interfere with normal breathing and swallowing\n \nA small number of people with Graves disease also experience thickening and reddening of the skin on their shins. This usually painless problem is called pretibial myxedema or Graves dermopathy.\n \nIn addition, the eyes of people with Graves disease may appear enlarged because their eyelids are retractedseem pulled back into the eye socketsand their eyes bulge out from the eye sockets. This condition is called Graves ophthalmopathy (GO).", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by 21-hydroxylase deficiency ?"}, {"role": "assistant", "content": "The classic forms of 21-hydroxylase deficiency occur in 1 in 15,000 newborns. The prevalence of the non-classic form of 21-hydroxylase deficiency is estimated to be 1 in 1,000 individuals. The prevalence of both classic and non-classic forms varies among different ethnic populations. 21-hydroxylase deficiency is one of a group of disorders known as congenital adrenal hyperplasias that impair hormone production and disrupt sexual development. 21-hydroxylase deficiency is responsible for about 95 percent of all cases of congenital adrenal hyperplasia.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by Senior-Lken syndrome ?"}, {"role": "assistant", "content": "Senior-Lken syndrome is a rare disorder, with an estimated prevalence of about 1 in 1 million people worldwide. Only a few families with the condition have been described in the medical literature.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Quitting Smoking for Older Adults ?"}, {"role": "assistant", "content": "These quit smoking websites offer you free, accurate information and professional assistance to help support the immediate and long-term needs of people trying to quit smoking. The National Cancer Institute sponsors - Smokefree 60+.gov, a quit-smoking website for older adults - Smokefree.gov - SmokefreeWomen - SmokefreeEspanol - SmokefreeVET Smokefree 60+.gov, a quit-smoking website for older adults Smokefree.gov SmokefreeWomen SmokefreeEspanol SmokefreeVET Other online resources are - Be Tobacco Free , a website from the U.S. Department of Health and Human Services - A Quit Guide from the Centers from Disease Control and Prevention (CDC). Be Tobacco Free , a website from the U.S. Department of Health and Human Services A Quit Guide from the Centers from Disease Control and Prevention (CDC). Most states also have quit-smoking websites that have resources, such as free supplies of nicotine replacement therapy, informational mailings, and more. Mobile tools can also help, especially when you're on the go. These include text messaging services and free apps. - See SmokefreeTXT, a text messaging service - See QuitSTART and QuitGuide, free quit smoking apps See SmokefreeTXT, a text messaging service See QuitSTART and QuitGuide, free quit smoking apps", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Do you have information about School Health"}, {"role": "assistant", "content": "Summary : Your child spends more time at school than anywhere else except home. Schools can have a major effect on children's health. Schools can teach children about health, and promote healthy behaviors. Physical education classes give children a chance to get exercise. Schools work to - Prevent risky behaviors such as alcohol and tobacco use, or bullying - Encourage healthy habits like exercise and healthy eating - Deal with specific health problems in students, such as asthma, obesity and infectious diseases The school building and environment should be a safe and healthy place for your child.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Cleft hand absent tibia ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Cleft hand absent tibia? The Human Phenotype Ontology provides the following list of signs and symptoms for Cleft hand absent tibia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Split hand 90% Abnormality of the tibia 50% Limitation of joint mobility 50% Abnormality of the femur 7.5% Abnormality of the fibula 7.5% Abnormality of the ulna 7.5% Brachydactyly syndrome 7.5% Finger syndactyly 7.5% Omphalocele 7.5% Overfolded helix 7.5% Patellar aplasia 7.5% Popliteal pterygium 7.5% Postaxial hand polydactyly 7.5% Preaxial hand polydactyly 7.5% Absent forearm - Absent tibia - Aplasia/Hypoplasia of the ulna - Autosomal dominant inheritance - Cupped ear - Monodactyly (hands) - Short hallux - Split foot - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by steatocystoma multiplex ?"}, {"role": "assistant", "content": "Although the prevalence of steatocystoma multiplex is unknown, it appears to be rare.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Who is at risk for Skin Cancer? ?"}, {"role": "assistant", "content": "Key Points\n - Avoiding risk factors and increasing protective factors may help prevent cancer. - Being exposed to ultraviolet radiation is a risk factor for skin cancer. - It is not known if the following lower the risk of nonmelanoma skin cancer: - Sunscreen use and avoiding sun exposure - Chemopreventive agents - It is not known if the following lower the risk of melanoma: - Sunscreen - Counseling and protecting the skin from the sun - Cancer prevention clinical trials are used to study ways to prevent cancer. - New ways to prevent skin cancer are being studied in clinical trials.\n \n \n Avoiding risk factors and increasing protective factors may help prevent cancer.\n Avoiding cancer risk factors may help prevent certain cancers. Risk factors include smoking, being overweight, and not getting enough exercise. Increasing protective factors such as quitting smoking and exercising may also help prevent some cancers. Talk to your doctor or other health care professional about how you might lower your risk of cancer.\n \n \n Being exposed to ultraviolet radiation is a risk factor for skin cancer.\n Some studies suggest that being exposed to ultraviolet (UV) radiation and the sensitivity of a persons skin to UV radiation are risk factors for skin cancer. UV radiation is the name for the invisible rays that are part of the energy that comes from the sun. Sunlamps and tanning beds also give off UV radiation. Risk factors for nonmelanoma and melanoma cancers are not the same. - Risk factors for nonmelanoma skin cancer: - Being exposed to natural sunlight or artificial sunlight (such as from tanning beds) over long periods of time. - Having a fair complexion, which includes the following: - Fair skin that freckles and burns easily, does not tan, or tans poorly. - Blue or green or other light-colored eyes. - Red or blond hair. - Having actinic keratosis. - Past treatment with radiation. - Having a weakened immune system. - Being exposed to arsenic. - Risk factors for melanoma skin cancer: - Having a fair complexion, which includes the following: - Fair skin that freckles and burns easily, does not tan, or tans poorly. - Blue or green or other light-colored eyes. - Red or blond hair. - Being exposed to natural sunlight or artificial sunlight (such as from tanning beds) over long periods of time. - Having a history of many blistering sunburns, especially as a child or teenager. - Having several large or many small moles. - Having a family history of unusual moles (atypical nevus syndrome). - Having a family or personal history of melanoma. - Being white.\n \n \n It is not known if the following lower the risk of nonmelanoma skin cancer:\n Sunscreen use and avoiding sun exposure It is not known if nonmelanoma skin cancer risk is decreased by staying out of the sun, using sunscreens, or wearing protective clothing when outdoors. This is because not enough studies have been done to prove this. Sunscreen may help decrease the amount of UV radiation to the skin. One study found that wearing sunscreen can help prevent actinic keratoses, scaly patches of skin that sometimes become squamous cell carcinoma. The harms of using sunscreen are likely to be small and include allergic reactions to skin creams and lower levels of vitamin D made in the skin because of less sun exposure. It is also possible that when a person uses sunscreen to avoid sunburn they may spend too much time in the sun and be exposed to harmful UV radiation. Although protecting the skin and eyes from the sun has not been proven to lower the chance of getting skin cancer, skin experts suggest the following: - Use sunscreen that protects against UV radiation. - Do not stay out in the sun for long periods of time, especially when the sun is at its strongest. - Wear long sleeve shirts, long pants, sun hats, and sunglasses, when outdoors. Chemopreventive agents Chemoprevention is the use of drugs, vitamins, or other agents to try to reduce the risk of cancer. The following chemopreventive agents have been studied to find whether they lower the risk of nonmelanoma skin cancer: Beta carotene Studies of beta carotene (taken as a supplement in pills) have not shown that it prevents nonmelanoma skin cancer from forming or coming back. Isotretinoin High doses of isotretinoin have been shown to prevent new skin cancers in patients with xeroderma pigmentosum. However, isotretinoin has not been shown to prevent nonmelanoma skin cancers from coming back in patients previously treated for nonmelanoma skin cancers. Treatment with isotretinoin can cause serious side effects. Selenium Studies have shown that selenium (taken in brewer's yeast tablets) does not lower the risk of basal cell carcinoma, and may increase the risk of squamous cell carcinoma. Celecoxib A study of celecoxib in patients with actinic keratosis and a history of nonmelanoma skin cancer found those who took celecoxib had slightly lower rates of recurrent nonmelanoma skin cancers. Celecoxib may have serious side effects on the heart and blood vessels. Alpha-difluoromethylornithine (DFMO) A study of alpha-difluoromethylornithine (DFMO) in patients with a history of nonmelanoma skin cancer showed that those who took DFMO had lower rates of nonmelanoma skin cancers coming back than those who took a placebo. DFMO may cause hearing loss which is usually temporary. Nicotinamide (vitamin B3) Studies have shown that nicotinamide (vitamin B3) helps prevent new actinic keratoses lesions from forming in people who had four or fewer actinic lesions before taking nicotinamide. More studies are needed to find out if nicotinamide prevents nonmelanoma skin cancer from forming or coming back.\n \n \n It is not known if the following lower the risk of melanoma:\n Sunscreen It has not been proven that using sunscreen to prevent sunburn can protect against melanoma caused by UV radiation. Other risk factors such as having skin that burns easily, having a large number of benign moles, or having atypical nevi may also play a role in whether melanoma forms. Counseling and protecting the skin from the sun It is not known if people who receive counseling or information about avoiding sun exposure make changes in their behavior to protect their skin from the sun.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is the outlook for Oxygen Therapy ?"}, {"role": "assistant", "content": "During an emergencysuch as a serious accident, possible heart attack, or other life-threatening eventyou might be started on oxygen therapy right away.\n \nWhile you're in the hospital, your doctor will check on you to make sure you're getting the right amount of oxygen. Nurses or respiratory therapists also may assist with the oxygen therapy.\n \nIf you're having oxygen therapy at home, a home equipment provider will help you set up the oxygen therapy equipment at your house.\n \nTrained staff will show you how to use and take care of the equipment. They'll supply the oxygen and teach you how to safely handle it.\n \nBecause oxygen poses a fire risk, you'll need to take certain safety steps. Oxygen isn't explosive, but it can worsen a fire. In the presence of oxygen, a small fire can quickly get out of control. Also, the cylinder that compressed oxygen gas comes in can explode if it's exposed to heat.\n \nYour home equipment provider will give you a complete list of safety steps that you'll need to follow at home and in public. For example, while on oxygen, you should:\n \nNever smoke or be around people who are smoking\n \nNever use paint thinners, cleaning fluids, gasoline, aerosol sprays, and other flammable materials\n \nStay at least 5 feet away from gas stoves, candles, and other heat sources\n \nWhen you're not using the oxygen, keep it in a large, airy room. Never store compressed oxygen gas cylinders and liquid oxygen containers in small, enclosed places, such as in closets, behind curtains, or under clothes.\n \nOxygen containers let off small amounts of oxygen. These small amounts can build up to harmful levels if they're allowed to escape into small spaces.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What to do for Vesicoureteral Reflux ?"}, {"role": "assistant", "content": "- Vesicoureteral reflux (VUR) is the abnormal flow of urine from the bladder to the upper urinary tract. - VUR is more common in infants and young children, but older children and even adults can be affected. About 10 percent of children have VUR. - In many cases, a child with VUR has no symptoms. When symptoms are present, the most common is a urinary tract infection (UTI). - When a child with VUR gets a UTI, bacteria can move into the kidney and lead to scarring. Scarring of the kidney can be associated with high blood pressure and kidney failure. - Voiding cystourethrogram (VCUG), radionuclide cystogram (RNC), and abdominal ultrasound are used to diagnose VUR. - Children with VUR should also be assessed for bladder/bowel dysfunction (BBD). Children who have VUR along with any BBD symptoms are at greater risk of kidney damage due to infection. - The standard treatment for primary VUR has included prompt treatment of UTIs and long-term use of antibiotics to prevent UTIs, also called antimicrobial prophylaxis, until VUR goes away on its own. Surgery has also been used in certain cases. - Secondary VUR is treated by removing the blockage causing the reflux.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Pernicious Anemia ?"}, {"role": "assistant", "content": "A lack of vitamin B12 (vitamin B12 deficiency) causes the signs and symptoms of pernicious anemia. Without enough vitamin B12, your body can't make enough healthy red blood cells, which causes anemia.\n \nSome of the signs and symptoms of pernicious anemia apply to all types of anemia. Other signs and symptoms are specific to a lack of vitamin B12.\n \nSigns and Symptoms of Anemia\n \nThe most common symptom of all types of anemia is fatigue (tiredness). Fatigue occurs because your body doesnt have enough red blood cells to carry oxygen to its various parts.\n \nA low red blood cell count also can cause shortness of breath, dizziness, headache, coldness in your hands and feet, pale or yellowish skin, and chest pain.\n \nA lack of red blood cells also means that your heart has to work harder to move oxygen-rich blood through your body. This can lead to irregular heartbeats called arrhythmias (ah-RITH-me-ahs), heart murmur, an enlarged heart, or even heart failure.\n \nSigns and Symptoms of Vitamin B12 Deficiency\n \nVitamin B12 deficiency may lead to nerve damage. This can cause tingling and numbness in your hands and feet, muscle weakness, and loss of reflexes. You also may feel unsteady, lose your balance, and have trouble walking. Vitamin B12 deficiency can cause weakened bones and may lead to hip fractures.\n \nSevere vitamin B12 deficiency can cause neurological problems, such as confusion, dementia, depression, and memory loss.\n \nOther symptoms of vitamin B12 deficiency involve the digestive tract. These symptoms include nausea (feeling sick to your stomach) and vomiting, heartburn, abdominal bloating and gas, constipation or diarrhea, loss of appetite, and weight loss. An enlarged liver is another symptom.\n \nA smooth, thick, red tongue also is a sign of vitamin B12 deficiency and pernicious anemia.\n \nInfants who have vitamin B12 deficiency may have poor reflexes or unusual movements, such as face tremors. They may have trouble feeding due to tongue and throat problems. They also may be irritable. If vitamin B12 deficiency isn't treated, these infants may have permanent growth problems.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of ICF syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of ICF syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for ICF syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Decreased antibody level in blood 90% Recurrent respiratory infections 90% Short stature 90% Abnormality of neutrophils 50% Anemia 50% Cellular immunodeficiency 50% Cognitive impairment 50% Communicating hydrocephalus 50% Depressed nasal bridge 50% Lymphopenia 50% Macrocephaly 50% Malabsorption 50% Abnormality of the tongue 7.5% Epicanthus 7.5% Hypertelorism 7.5% Low-set, posteriorly rotated ears 7.5% Malar flattening 7.5% Umbilical hernia 7.5% Anteverted nares - Autosomal recessive inheritance - Bronchiectasis - Chronic bronchitis - Diarrhea - Failure to thrive - Flat face - Immunodeficiency - Intellectual disability - Low-set ears - Macroglossia - Pneumonia - Protruding tongue - Sinusitis - T lymphocytopenia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Lymphocytic infiltrate of Jessner ?"}, {"role": "assistant", "content": "Lymphocytic infiltrate of Jessner is a skin condition characterized by single or multiple small, nonscaly, red, bumps on the face, neck, and upper back. The bumps can enlarge to create a red plaque. Rarely, the skin lesions cause burning or itching. The condition tends to last for several months, sometimes longer. The lesions may fluctuate between periods of worsening and periods of improvement. Currently, the cause is not known.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is fibrodysplasia ossificans progressiva inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases of fibrodysplasia ossificans progressiva result from new mutations in the gene. These cases occur in people with no history of the disorder in their family. In a small number of cases, an affected person has inherited the mutation from one affected parent.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is the outlook for Childhood Acute Lymphoblastic Leukemia ?"}, {"role": "assistant", "content": "Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) depends on: - How quickly and how low the leukemia cell count drops after the first month of treatment. - Age at the time of diagnosis, gender, race, and ethnic background. - The number of white blood cells in the blood at the time of diagnosis. - Whether the leukemia cells began from B lymphocytes or T lymphocytes. - Whether there are certain changes in the chromosomes or genes of the lymphocytes with cancer. - Whether the child has Down syndrome. - Whether leukemia cells are found in the cerebrospinal fluid. - The child's weight at the time of diagnosis and during treatment. Treatment options depend on: - Whether the leukemia cells began from B lymphocytes or T lymphocytes. - Whether the child has standard-risk, high-risk, or very highrisk ALL. - The age of the child at the time of diagnosis. - Whether there are certain changes in the chromosomes of lymphocytes, such as the Philadelphia chromosome. - Whether the child was treated with steroids before the start of induction therapy. - How quickly and how low the leukemia cell count drops during treatment. For leukemia that relapses (comes back) after treatment, the prognosis and treatment options depend partly on the following: - How long it is between the time of diagnosis and when the leukemia comes back. - Whether the leukemia comes back in the bone marrow or in other parts of the body.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Donohue syndrome ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of Donohue syndrome: - Genetic Testing Registry: Leprechaunism syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by nonsyndromic hearing loss ?"}, {"role": "assistant", "content": "Between 2 and 3 per 1,000 children in the United States are born with detectable hearing loss in one or both ears. The prevalence of hearing loss increases with age; the condition affects 1 in 8 people in the United States age 12 and older, or about 30 million people. By age 85, more than half of all people experience hearing loss.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Do you have information about Hysterectomy"}, {"role": "assistant", "content": "Summary : A hysterectomy is surgery to remove a woman's uterus or womb. The uterus is the place where a baby grows when a woman is pregnant. After a hysterectomy, you no longer have menstrual periods and can't become pregnant. Sometimes the surgery also removes the ovaries and fallopian tubes. If you have both ovaries taken out, you will enter menopause. Your health care provider might recommend a hysterectomy if you have - Fibroids - Endometriosis that hasn't been cured by medicine or surgery - Uterine prolapse - when the uterus drops into the vagina - Cancer of the uterine, cervix, or ovaries - Vaginal bleeding that persists despite treatment - Chronic pelvic pain, as a last resort Dept. of Health and Human Services Office on Women's Health", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Mantle cell lymphoma ?"}, {"role": "assistant", "content": "How might Mantle cell lympoma be treated? Various treatmentsare currently available for Mantle cell lymphomas. Rare cases of early stage mantle cell lymphomas may be treated with radiation therapy. For more advance stagestreatment includes chemotherapy, immunotherapy, bone marrow transplant, and medication.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by persistent Mllerian duct syndrome ?"}, {"role": "assistant", "content": "Persistent Mllerian duct syndrome is a rare disorder; however, the prevalence of the condition is unknown.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Primary hyperoxaluria type 2 ?"}, {"role": "assistant", "content": "How might primary hyperoxaluria type 2 be treated? The current management strategy includes high fluid intake, treatment with inhibitors of calcium oxalate crystallization, and temporary intensive dialysis for end-stage renal disease (ESRD) followed by kidney transplantation. Varying success has been reported following transplantation, with recurrence being a real possibility since hyperoxaluria and elevated L-glycerate levels persist. Careful management in the postoperative period, with attention to brisk urine output and use of calcium oxalate urinary inhibitors may help prevent complications. To date, liver-kidney transplantation has not been used in primary hyperoxaluria type 2. This strategy may be considered, however, as there is more enzyme in the liver than in other tissues. More studies are needed before liver transplantation can be recommended. Other treatment modalities needing further investigation include liver cell transplantation and recombinant gene therapy to replace the missing enzyme.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Situs inversus ?"}, {"role": "assistant", "content": "Situs inversus is a condition in which the arrangement of the internal organs is a mirror image of normal anatomy. It can occur alone (isolated, with no other abnormalities or conditions) or it can occur as part of a syndrome with various other defects. Congenital heart defects are present in about 5-10% of affected people. The underlying cause and genetics of situs inversus are complex. Familial cases have been reported.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Dravet Syndrome ?"}, {"role": "assistant", "content": "Dravet syndrome, also called severe myoclonic epilepsy of infancy (SMEI), is a severe form of epilepsy. It appears during the first year of life with frequent febrile seizures fever-related seizures that, by definition, are rare beyond age 5. Later, other types of seizures typically arise, including myoclonus (involuntary muscle spasms). Status epilepticus a state of continuous seizure requiring emergency medical care also may occur. Children with Dravet syndrome typically experience poor development of language and motor skills, hyperactivity, and difficulty relating to others.\n \nIn 30 to 80 percent of cases, Dravet syndrome is caused by defects in a gene required for the proper function of brain cells. Borderline SMEI (SMEB) and another type of infant-onset epilepsy called generalized epilepsy with febrile seizures plus (GEFS+) are caused by defects in the same gene. In GEFS+, febrile seizures may persist beyond age 5.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Coccygodynia ?"}, {"role": "assistant", "content": "What treatment is available for coccygodynia? Treatment for coccygodynia generally falls into conservative management or surgical intervention categories. The conservative approach typically includes hot sitz baths, NSAIDs, stool softeners, and/or the use of a donut-shaped pillow or gel cushion to descrease pressure and irritation of the coccyx. If these treatment options fails, glucocorticoid injections may be used in an attempt to reduce the pain. Massage therapy has also been used to help decrease pain, but most studies have shown that the relief experienced from this form of therapy is temporary. The more aggressive and rare approach involves either partial or complete removal of the coccyx (coccygectomy).", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Heart Failure ?"}, {"role": "assistant", "content": "Many medications are used to manage heart failure. They include diuretics, ACE inhibitors, beta blockers and digoxin. Diuretics are used to reduce fluid buildup. ACE inhibitors work to improve heart failure in many ways, including lowering blood pressure. Beta blockers can also improve heart failure in many ways, including slowing the heart rate. Digoxin affects the hormones that worsen heart failure.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by blepharophimosis, ptosis, and epicanthus inversus syndrome ?"}, {"role": "assistant", "content": "The prevalence of BPES is unknown.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Who is at risk for Chapare Hemorrhagic Fever (CHHF)? ?"}, {"role": "assistant", "content": "CHHF occurs in the Cochabamba region of Bolivia. \nField workers \n \nField workers are at greatest risk because of increased human contact with the reservoir rodent population. Sexual partners of field workers may be at greater risk as well. Laboratory infections have been frequently described with Arenaviruses and Chapare virus can certainly be transmitted to laboratory workers during manipulation of the virus especially during experimental infections of rodents.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Bart-Pumphrey syndrome ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of Bart-Pumphrey syndrome: - Foundation for Ichthyosis and Related Skin Types: Palmoplantar Keratoderma - Genetic Testing Registry: Knuckle pads, deafness AND leukonychia syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Short Bowel Syndrome ?"}, {"role": "assistant", "content": "A health care provider diagnoses short bowel syndrome based on\n \n- a medical and family history - a physical exam - blood tests - fecal fat tests - an x-ray of the small and large intestines - upper gastrointestinal (GI) series - computerized tomography (CT) scan\n \nMedical and Family History\n \nTaking a medical and family history may help a health care provider diagnose short bowel syndrome. He or she will ask the patient about symptoms and may request a history of past operations.\n \nPhysical Exam\n \nA physical exam may help diagnose short bowel syndrome. During a physical exam, a health care provider usually\n \n- examines a patient's body, looking for muscle wasting or weight loss and signs of vitamin and mineral deficiencies - uses a stethoscope to listen to sounds in the abdomen - taps on specific areas of the patient's body\n \nBlood Tests\n \nA blood test involves drawing a patient's blood at a health care provider's office or a commercial facility and sending the sample to a lab for analysis. Blood tests can show mineral and vitamin levels and measure complete blood count.\n \nFecal Fat Tests\n \nA fecal fat test measures the body's ability to break down and absorb fat. For this test, a patient provides a stool sample at a health care provider's office. The patient may also use a take-home test kit. The patient collects stool in plastic wrap that he or she lays over the toilet seat and places a sample into a container. A patient can also use a special tissue provided by the health care provider's office to collect the sample and place the tissue into the container. For children wearing diapers, the parent or caretaker can line the diaper with plastic to collect the stool. The health care provider will send the sample to a lab for analysis. A fecal fat test can show how well the small intestine is working.\n \nX-ray\n \nAn x-ray is a picture created by using radiation and recorded on film or on a computer. The amount of radiation used is small. An x-ray technician performs the x-ray at a hospital or an outpatient center, and a radiologista doctor who specializes in medical imaginginterprets the images. An x-ray of the small intestine can show that the last segment of the large intestine is narrower than normal. Blocked stool causes the part of the intestine just before this narrow segment to stretch and bulge.\n \nUpper Gastrointestinal Series\n \nUpper GI series, also called a barium swallow, uses x rays and fluoroscopy to help diagnose problems of the upper GI tract. Fluoroscopy is a form of x ray that makes it possible to see the internal organs and their motion on a video monitor. An x-ray technician performs this test at a hospital or an outpatient center, and a radiologist interprets the images.\n \nDuring the procedure, the patient will stand or sit in front of an x-ray machine and drink barium, a chalky liquid. Barium coats the esophagus, stomach, and small intestine so the radiologist and a health care provider can see the shape of these organs more clearly on x-rays.\n \nA patient may experience bloating and nausea for a short time after the test. For several days afterward, barium liquid in the GI tract causes white or light-colored stools. A health care provider will give the patient specific instructions about eating and drinking after the test. Upper GI series can show narrowing and widening of the small and large intestines.\n \nMore information is provided in the NIDDK health topic, Upper GI Series.\n \nComputerized Tomography Scan\n \nComputerized tomography scans use a combination of x-rays and computer technology to create images. For a CT scan, a health care provider may give the patient a solution to drink and an injection of a special dye, called a contrast medium. CT scans require the patient to lie on a table that slides into a tunnel-shaped device that takes x-rays.\n \nAn x-ray technician performs the procedure in an outpatient center or a hospital, and a radiologist interprets the images. The patient does not need anesthesia. CT scans can show bowel obstruction and changes in the intestines.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Leukonychia totalis ?"}, {"role": "assistant", "content": "How might leukonychia totalis be treated? There is no universally successful treatment for the whitening of the nails in people with leukonychia totalis. However, if the condition is known to have an underlying cause, treating that cause (when possible) may improve the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Danon disease ?"}, {"role": "assistant", "content": "Is genetic testing available for Danon disease? Yes. GeneTests lists laboratories offering clinical genetic testing for Danon disease. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues. Talk to your health care provider or a genetic professional to learn more about your testing options. Click on the link above to view a list of testing laboratories.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to hyperparathyroidism-jaw tumor syndrome ?"}, {"role": "assistant", "content": "Mutations in the CDC73 gene (also known as the HRPT2 gene) cause hyperparathyroidism-jaw tumor syndrome. The CDC73 gene provides instructions for making a protein called parafibromin. This protein is found throughout the body and is likely involved in gene transcription, which is the first step in protein production. Parafibromin is also thought to play a role in cell growth and division (proliferation), either promoting or inhibiting cell proliferation depending on signals within the cell. CDC73 gene mutations cause hyperparathyroidism-jaw tumor syndrome by reducing the amount of functional parafibromin that is produced. Most of these mutations result in a parafibromin protein that is abnormally short and nonfunctional. Without functional parafibromin, cell proliferation is not properly regulated. Uncontrolled cell division can lead to the formation of tumors. It is unknown why only certain tissues seem to be affected by changes in parafibromin. Some people with hyperparathyroidism-jaw tumor syndrome do not have identified mutations in the CDC73 gene. The cause of the condition in these individuals is unknown.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What to do for Renal Tubular Acidosis ?"}, {"role": "assistant", "content": "- Renal tubular acidosis (RTA) is a disease that occurs when the kidneys fail to excrete acids into the urine, which causes a person's blood to remain too acidic. - Without proper treatment, chronic acidity of the blood leads to growth retardation, kidney stones, bone disease, chronic kidney disease, and possibly total kidney failure. - If RTA is suspected, additional information about the sodium, potassium, and chloride levels in the urine and the potassium level in the blood will help identify which type of RTA a person has. - In all cases, the first goal of therapy is to neutralize acid in the blood, but different treatments may be needed to address the different underlying causes of acidosis.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Bilateral generalized polymicrogyria ?"}, {"role": "assistant", "content": "Bilateral generalized polymicrogyria is a rare neurological disorder that affects the cerebral cortex (the outer surface of the brain). This is the most widespread form of polymicrogyria and typically affects the entire surface of the brain. Signs and symptoms include severe intellectual disability, problems with movement, and seizures that are difficult or impossible to treat. While the exact cause of bilateral generalized polymicrogyria is not fully understood, it is thought to be due to improper brain development during embryonic growth. Most cases appear to follow an autosomal recessive pattern of inheritance. Treatment is based on the signs and symptoms present in each person.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) benign recurrent intrahepatic cholestasis ?"}, {"role": "assistant", "content": "Benign recurrent intrahepatic cholestasis (BRIC) is characterized by episodes of liver dysfunction called cholestasis. During these episodes, the liver cells have a reduced ability to release a digestive fluid called bile. Because the problems with bile release occur within the liver (intrahepatic), the condition is described as intrahepatic cholestasis. Episodes of cholestasis can last from weeks to months, and the time between episodes, during which there are usually no symptoms, can vary from weeks to years. The first episode of cholestasis usually occurs in an affected person's teens or twenties. An attack typically begins with severe itchiness (pruritus), followed by yellowing of the skin and whites of the eyes (jaundice) a few weeks later. Other general signs and symptoms that occur during these episodes include a vague feeling of discomfort (malaise), irritability, nausea, vomiting, and a lack of appetite. A common feature of BRIC is the reduced absorption of fat in the body, which leads to excess fat in the feces (steatorrhea). Because of a lack of fat absorption and loss of appetite, affected individuals often lose weight during episodes of cholestasis. BRIC is divided into two types, BRIC1 and BRIC2, based on the genetic cause of the condition. The signs and symptoms are the same in both types. This condition is called benign because it does not cause lasting damage to the liver. However, episodes of liver dysfunction occasionally develop into a more severe, permanent form of liver disease known as progressive familial intrahepatic cholestasis (PFIC). BRIC and PFIC are sometimes considered to be part of a spectrum of intrahepatic cholestasis disorders of varying severity.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the stages of Adult Central Nervous System Tumors ?"}, {"role": "assistant", "content": "Key Points\n - There is no standard staging system for adult brain and spinal cord tumors. - Imaging tests may be repeated after surgery to help plan more treatment.\n \n \n There is no standard staging system for adult brain and spinal cord tumors.\n The extent or spread of cancer is usually described as stages. There is no standard staging system for brain and spinal cord tumors. Brain tumors that begin in the brain may spread to other parts of the brain and spinal cord, but they rarely spread to other parts of the body. Treatment of primary brain and spinal cord tumors is based on the following: - The type of cell in which the tumor began. - Where the tumor formed in the brain or spinal cord. - The amount of cancer left after surgery. - The grade of the tumor. Treatment of tumors that have spread to the brain from other parts of the body is based on the number of tumors in the brain.\n \n \n Imaging tests may be repeated after surgery to help plan more treatment.\n Some of the tests and procedures used to diagnose a brain or spinal cord tumor may be repeated after treatment to find out how much tumor is left.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) nephronophthisis ?"}, {"role": "assistant", "content": "Nephronophthisis is a disorder that affects the kidneys. It is characterized by inflammation and scarring (fibrosis) that impairs kidney function. These abnormalities lead to increased urine production (polyuria), excessive thirst (polydipsia), general weakness, and extreme tiredness (fatigue). In addition, affected individuals develop fluid-filled cysts in the kidneys, usually in an area known as the corticomedullary region. Another feature of nephronophthisis is a shortage of red blood cells, a condition known as anemia. Nephronophthisis eventually leads to end-stage renal disease (ESRD), a life-threatening failure of kidney function that occurs when the kidneys are no longer able to filter fluids and waste products from the body effectively. Nephronophthisis can be classified by the approximate age at which ESRD begins: around age 1 (infantile), around age 13 (juvenile), and around age 19 (adolescent). About 85 percent of all cases of nephronophthisis are isolated, which means they occur without other signs and symptoms. Some people with nephronophthisis have additional features, which can include liver fibrosis, heart abnormalities, or mirror image reversal of the position of one or more organs inside the body (situs inversus). Nephronophthisis can occur as part of separate syndromes that affect other areas of the body; these are often referred to as nephronophthisis-associated ciliopathies. For example, Senior-Lken syndrome is characterized by the combination of nephronophthisis and a breakdown of the light-sensitive tissue at the back of the eye (retinal degeneration); Joubert syndrome affects many parts of the body, causing neurological problems and other features, which can include nephronophthisis.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is carnitine palmitoyltransferase II deficiency inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Sialadenitis ?"}, {"role": "assistant", "content": "Sialadenitis is an infection of the salivary glands. It is usually caused by a virus or bacteria. The parotid (in front of the ear) and submandibular (under the chin) glands are most commonly affected. Sialadenitis may be associated with pain, tenderness, redness, and gradual, localized swelling of the affected area. There are both acute and chronic forms. Although it is quite common among elderly adults with salivary gland stones, sialadenitis can also occur in other age groups, including infants during the first few weeks of life. Without proper treatment, sialadenitis can develop into a severe infection, especially in people who are debilitated or elderly.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Quitting Smoking for Older Adults ?"}, {"role": "assistant", "content": "Quitlines are free, anonymous telephone counseling services. These programs have helped more than 3 million smokers. When you call a quitline, you talk to a trained counselor who can help you develop a strategy for quitting or help you stay on track. The counselor can provide material that could improve your chances of quitting. - You can call the National Cancer Institutes Smoking Quitline at (877) 44U-QUIT or (877) 448-7848 between 8:00 a.m. and 8:00 p.m. Eastern Time. You can call the National Cancer Institutes Smoking Quitline at (877) 44U-QUIT or (877) 448-7848 between 8:00 a.m. and 8:00 p.m. Eastern Time. - You can also call your states quitline. Call (800) QUIT-NOW or (800) 784-8669 to be connected with free resources about quitting and counseling information in your state. You can also call your states quitline. Call (800) QUIT-NOW or (800) 784-8669 to be connected with free resources about quitting and counseling information in your state. - If you are a veteran, you can call (855)-QUIT VET or (855) 784-8838 between 8:00 a.m. and 8:00 p.m. Eastern Time on Mondays through Fridays. If you are a veteran, you can call (855)-QUIT VET or (855) 784-8838 between 8:00 a.m. and 8:00 p.m. Eastern Time on Mondays through Fridays. You can also check out SmokeFree 60Plus. a quit-smoking website for older adults developed by the National Cancer Institute.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Hypoaldosteronism ?"}, {"role": "assistant", "content": "Hypoaldosteronism is a condition characterized by the shortage (deficiency) or impaired function of a hormone called aldosterone. Hypoaldosteronism may be described as hyporeninemic or hyperreninemic depending on renin levels. Hyporeninemic hypoaldosteronism occurs when there is decreased production of aldosterone due to decreased production of renin . Affected individuals typically have kidney (renal) disease due to various conditions, such as diabetes, interstitial nephritis, or multiple myeloma. Hyperreninemic hypoaldosteronism occurs when there is a problem with the production of aldosterone, but renin is produced normally by the kidneys. Common causes of this form of hypoaldosteronism are medications (ACE inhibitors), lead poisoning, severe illness, and aldosterone enzyme defects.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Glucose-6-phosphate dehydrogenase deficiency ?"}, {"role": "assistant", "content": "How might glucose-6-phosphate dehydrogenase (G6PD) deficiency be treated? The most important aspect of management for G6PD deficiency is to avoid agents that might trigger an attack. In cases of acute hemolytic anemia, a blood transfusion or even an exchange transfusion may be required. The G6PD Deficiency Association, which is an advocacy group that provides information and supportive resources to individuals and families affected by G6PD deficiency, provides a list of drugs and food ingredients that individuals with this condition should avoid. They also maintain a list of low risk drugs that are generally safe to take in low doses.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Benign hereditary chorea ?"}, {"role": "assistant", "content": "Benign hereditary chorea (BHC) is a rare movement disorder that begins in infancy or childhood. Signs and symptoms in infants may include low muscle tone, involuntary movements (chorea), lung infections, and respiratory distress. Signs and symptoms in children may include delayed motor and walking milestones, jerky muscle movements (myoclonus), upper limb dystonia, motor tics, and vocal tics. The chorea often improves with time. In some cases, myoclonus persists or worsens. Children with BHC can have normal intellect, but may have learning and behavior problems. Other signs and symptoms include thyroid problems (e.g., hypothyroidism) and lung disease (e.g., recurring infections). Treatment is tailored to each child. Tetrabenazine and levodopa have been tried in individual cases with some success. BHC is caused by mutations in the NKX2-1 gene (also known as the TITF1 gene). It is passed through families in an autosomal dominant fashion.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Do you have information about Medicare"}, {"role": "assistant", "content": "Summary : Medicare is the U.S. government's health insurance program for people age 65 or older. Some people under age 65 can qualify for Medicare, too. They include those with disabilities, permanent kidney failure, or amyotrophic lateral sclerosis. Medicare helps with the cost of health care. It does not cover all medical expenses or the cost of most long-term care. The program has four parts: - Part A is hospital insurance - Part B helps pay for medical services that Part A doesn't cover - Part C is called Medicare Advantage. If you have Parts A and B, you can choose this option to receive all of your health care through a provider organization, like an HMO. - Part D is prescription drug coverage. It helps pay for some medicines.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is beta thalassemia inherited ?"}, {"role": "assistant", "content": "Thalassemia major and thalassemia intermedia are inherited in an autosomal recessive pattern, which means both copies of the HBB gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Sometimes, however, people with only one HBB gene mutation in each cell develop mild anemia. These mildly affected people are said to have thalassemia minor. In a small percentage of families, the HBB gene mutation is inherited in an autosomal dominant manner. In these cases, one copy of the altered gene in each cell is sufficient to cause the signs and symptoms of beta thalassemia.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Rare Diseases ?"}, {"role": "assistant", "content": "A rare disease is one that affects fewer than 200,000 people in the United States. There are nearly 7,000 rare diseases. More than 25 million Americans have one. Rare diseases - May involve chronic illness, disability, and often premature death - Often have no treatment or not very effective treatment - Are frequently not diagnosed correctly - Are often very complex - Are often caused by changes in genes It can be hard to find a specialist who knows how to treat your rare disease. Disease advocacy groups, rare disease organizations, and genetics clinics may help you to find one. NIH: National Institutes of Health", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Hypersensitivity Pneumonitis ?"}, {"role": "assistant", "content": "Repeatedly breathing in foreign substances can cause hypersensitivity pneumonitis (HP). Examples of these substances include molds, dusts, and chemicals. (Mold often is the cause of HP.) These substances also are known as antigens.\n \nOver time, your lungs can become sensitive to antigens. If this happens, your lungs will become inflamed, which can lead to symptoms and may even cause long-term lung damage.\n \nAntigens may be found in the home, workplace, or in other settings. Antigens can come from many sources, such as:\n \nBird droppings\n \nHumidifiers, heating systems, and hot tubs\n \nLiquid chemicals used in the landscaping and florist industries\n \nMoldy hay, straw, and grain\n \nChemicals released during the production of plastics and electronics, and chemicals released during painting\n \nMold released during lumber milling, construction, and wood stripping", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Multiple myeloma ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Multiple myeloma? In some cases, multiple myeloma is not associated with any signs and symptoms. When present, the most common symptom is anemia (low red blood cell count), which can be associated with fatigue, shortness of breath, and dizziness. Other features of the condition may include: Bone pain Nausea Constipation Loss of appetite Frequent infections Weight loss Excessive thirst Weakness and/or numbness in the arms and legs Confusion Abnormal bleeding Weak bones that may break easily Difficulty breathing The Human Phenotype Ontology provides the following list of signs and symptoms for Multiple myeloma. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis - Autosomal recessive inheritance - Multiple myeloma - Somatic mutation - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Alzheimer's Caregivers ?"}, {"role": "assistant", "content": "Caring for someone who has Alzheimer's disease (AD) can be stressful and overwhelming. It's important to take care of yourself. Ask for and accept help. Talk to the doctor. Find out what treatments might help control symptoms or address behavior problems. Find a support group. Others who have \"been there\" may be able to help and will understand. If there are times of day that the person is less confused or more cooperative, take advantage of that in daily routines. Consider using adult day care or respite services. These offer a break with the peace of mind that the patient is being taken care of. Begin to plan for the future. This may include - Getting financial and legal documents in order - Looking into assisted living or nursing homes - Finding out what your health insurance and Medicare will cover NIH: National Institute on Aging", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is the outlook for Cavernous Malformation ?"}, {"role": "assistant", "content": "Rebleeding from a cavernous angioma is common, it is not predictable, and individuals frequently have multiple CCMs found via magnetic resonance imaging. Individuals with CCM are faced with a diagnosis that imparts risk of multiple future hemorrhages that occur seemingly at random and without any preventative therapy except surgical removal.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for carnitine palmitoyltransferase II deficiency ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of CPT II deficiency: - Baby's First Test - FOD (Fatty Oxidation Disorders) Family Support Group: Diagnostic Approach to Disorders of Fat Oxidation - Information for Clinicians - Gene Review: Gene Review: Carnitine Palmitoyltransferase II Deficiency - Genetic Testing Registry: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET - Genetic Testing Registry: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL - Genetic Testing Registry: Carnitine palmitoyltransferase II deficiency - Genetic Testing Registry: Carnitine palmitoyltransferase II deficiency, infantile These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Myelomeningocele ?"}, {"role": "assistant", "content": "What are the signs and symptoms of myelomeningocele? A baby born with a myelomeningocele may have a sac sticking out of the mid to lower back that the doctor cannot see through when shining a light behind it. Symptoms of this condition include:[5182] Loss of bladder or bowel control Partial or complete lack of sensation Partial or complete paralysis of the legs Weakness of the hips, legs, or feet Some individuals may have additional symptoms. Other symptoms include: Abnormal feet or legs, such as clubfoot. Build up of fluid inside the skull (hydrocephalus) Hair at the back part of the pelvis called the sacral area Dimpling of the sacral area Meningitis Chiari II malformation Twenty to 50 percent of children with myelomeningocele develop a condition called progressive tethering, or tethered cord syndrome. A part of the spinal cord becomes fastened to an immovable structuresuch as overlying membranes and vertebraecausing the spinal cord to become abnormally stretched and the vertebrae elongated with growth and movement. This condition can cause change in the muscle function of the legs, as well as changes in bowel and bladder function. Early surgery on the spinal cord may help the child to regain a normal level of functioning and prevent further neurological deterioration.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is the outlook for Friedreich's Ataxia ?"}, {"role": "assistant", "content": "Generally, within 15 to 20 years after the appearance of the first symptoms, the person is confined to a wheelchair, and in later stages of the disease, individuals may become completely incapacitated. Friedreich's ataxia can shorten life expectancy; heart disease is the most common cause of death. Many individuals with Friedreich's ataxia die in early adulthood, but some people with less severe symptoms live into their 60s, 70s, or longer.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What to do for What I need to know about Hepatitis C ?"}, {"role": "assistant", "content": "If you have chronic hepatitis C, you should do things to take care of yourself, including eating a healthy diet. Avoid drinking alcohol, which can harm the liver. Talk with your doctor before taking vitamins and other supplements.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Childhood Hodgkin Lymphoma ?"}, {"role": "assistant", "content": "Tests that examine the lymph system are used to detect (find) and diagnose childhood Hodgkin lymphoma. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patient's health habits and past illnesses and treatments will also be taken. - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, such as the neck, chest, abdomen, or pelvis, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - PET scan (positron emission tomography scan): A procedure to find malignant tumor cells in the body. A small amount of radioactive glucose (sugar) is injected into a vein. The PET scanner rotates around the body and makes a picture of where glucose is being used in the body. Malignant tumor cells show up brighter in the picture because they are more active and take up more glucose than normal cells do. Sometimes a PET scan and a CT scan are done at the same time. If there is any cancer, this increases the chance that it will be found. - Chest x-ray : An x-ray of the organs and bones inside the chest. An x-ray is a type of energy beam that can go through the body and onto film, making a picture of areas inside the body. - Complete blood count (CBC): A procedure in which a sample of blood is drawn and checked for the following: - The number of red blood cells, white blood cells, and platelets. - The amount of hemoglobin (the protein that carries oxygen) in the red blood cells. - The portion of the blood sample made up of red blood cells. - Blood chemistry studies : A procedure in which a blood sample is checked to measure the amounts of certain substances released into the blood by organs and tissues in the body. An unusual (higher or lower than normal) amount of a substance can be a sign of disease. - Sedimentation rate : A procedure in which a sample of blood is drawn and checked for the rate at which the red blood cells settle to the bottom of the test tube. The sedimentation rate is a measure of how much inflammation is in the body. A higher than normal sedimentation rate may be a sign of lymphoma. Also called erythrocyte sedimentation rate, sed rate, or ESR. - Lymph node biopsy : The removal of all or part of a lymph node. The lymph node may be removed during an image-guided CT scan or a thoracoscopy, mediastinoscopy, or laparoscopy. One of the following types of biopsies may be done: - Excisional biopsy : The removal of an entire lymph node. - Incisional biopsy : The removal of part of a lymph node. - Core biopsy : The removal of tissue from a lymph node using a wide needle. - Fine-needle aspiration (FNA) biopsy : The removal of tissue from a lymph node using a thin needle. A pathologist views the tissue under a microscope to look for cancer cells, especially Reed-Sternberg cells. Reed-Sternberg cells are common in classical Hodgkin lymphoma. The following test may be done on tissue that was removed: - Immunophenotyping : A laboratory test used to identify cells, based on the types of antigens or markers on the surface of the cell. This test is used to diagnose the specific type of lymphoma by comparing the cancer cells to normal cells of the immune system.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to breast cancer ?"}, {"role": "assistant", "content": "Cancers occur when a buildup of mutations in critical genesthose that control cell growth and division or repair damaged DNAallow cells to grow and divide uncontrollably to form a tumor. In most cases of breast cancer, these genetic changes are acquired during a person's lifetime and are present only in certain cells in the breast. These changes, which are called somatic mutations, are not inherited. Somatic mutations in many different genes have been found in breast cancer cells. Less commonly, gene mutations present in essentially all of the body's cells increase the risk of developing breast cancer. These genetic changes, which are classified as germline mutations, are usually inherited from a parent. In people with germline mutations, changes in other genes, together with environmental and lifestyle factors, also influence whether a person will develop breast cancer. Some breast cancers that cluster in families are associated with inherited mutations in particular genes, such as BRCA1 or BRCA2. These genes are described as \"high penetrance\" because they are associated with a high risk of developing breast cancer, ovarian cancer, and several other types of cancer in women who have mutations. Men with mutations in these genes also have an increased risk of developing several forms of cancer, including breast cancer. The proteins produced from the BRCA1 and BRCA2 genes are involved in fixing damaged DNA, which helps to maintain the stability of a cell's genetic information. They are described as tumor suppressors because they help keep cells from growing and dividing too fast or in an uncontrolled way. Mutations in these genes impair DNA repair, allowing potentially damaging mutations to persist in DNA. As these defects accumulate, they can trigger cells to grow and divide without control or order to form a tumor. A significantly increased risk of breast cancer is also a feature of several rare genetic syndromes. These include Cowden syndrome, which is most often caused by mutations in the PTEN gene; hereditary diffuse gastric cancer, which results from mutations in the CDH1 gene; Li-Fraumeni syndrome, which is usually caused by mutations in the TP53 gene; and Peutz-Jeghers syndrome, which typically results from mutations in the STK11 gene. The proteins produced from these genes act as tumor suppressors. Mutations in any of these genes can allow cells to grow and divide unchecked, leading to the development of a cancerous tumor. Like BRCA1 and BRCA2, these genes are considered \"high penetrance\" because mutations greatly increase a person's chance of developing cancer. In addition to breast cancer, mutations in these genes increase the risk of several other types of cancer over a person's lifetime. Some of the conditions also include other signs and symptoms, such as the growth of noncancerous (benign) tumors. Mutations in dozens of other genes have been studied as possible risk factors for breast cancer. These genes are described as \"low penetrance\" or \"moderate penetrance\" because changes in each of these genes appear to make only a small or moderate contribution to overall breast cancer risk. Some of these genes provide instructions for making proteins that interact with the proteins produced from the BRCA1 or BRCA2 genes. Others act through different pathways. Researchers suspect that the combined influence of variations in these genes may significantly impact a person's risk of developing breast cancer. In many families, the genetic changes associated with hereditary breast cancer are unknown. Identifying additional genetic risk factors for breast cancer is an active area of medical research. In addition to genetic changes, researchers have identified many personal and environmental factors that contribute to a person's risk of developing breast cancer. These factors include gender, age, ethnic background, a history of previous breast cancer, certain changes in breast tissue, and hormonal and reproductive factors. A history of breast cancer in closely related family members is also an important risk factor, particularly if the cancer occurred in early adulthood.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Rhizomelic dysplasia Patterson Lowry type ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Rhizomelic dysplasia Patterson Lowry type? The Human Phenotype Ontology provides the following list of signs and symptoms for Rhizomelic dysplasia Patterson Lowry type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal form of the vertebral bodies 90% Abnormality of the hip bone 90% Abnormality of the humerus 90% Abnormality of the metacarpal bones 90% Brachydactyly syndrome 90% Depressed nasal ridge 90% Deviation of finger 90% Epicanthus 90% Genu valgum 90% Hyperlordosis 90% Large face 90% Limb undergrowth 90% Malar flattening 90% Mandibular prognathia 90% Short nose 90% Coxa vara - Deformed humeral heads - Platyspondyly - Rhizomelia - Short humerus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Chylomicron retention disease ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Chylomicron retention disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Chylomicron retention disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of blood and blood-forming tissues - Abnormality of the eye - Autosomal recessive inheritance - Diarrhea - Failure to thrive - Growth delay - Hypoalbuminemia - Hypobetalipoproteinemia - Hypocholesterolemia - Infantile onset - Intellectual disability - Malnutrition - Steatorrhea - Vomiting - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to progressive supranuclear palsy ?"}, {"role": "assistant", "content": "In most cases, the genetic cause of progressive supranuclear palsy is unknown. Rarely, the disease results from mutations in the MAPT gene. Certain normal variations (polymorphisms) in the MAPT gene have also been associated with an increased risk of developing progressive supranuclear palsy. The MAPT gene provides instructions for making a protein called tau. This protein is found throughout the nervous system, including in nerve cells (neurons) in the brain. It is involved in assembling and stabilizing microtubules, which are rigid, hollow fibers that make up the cell's structural framework (the cytoskeleton). Microtubules help cells maintain their shape, assist in the process of cell division, and are essential for the transport of materials within cells. The signs and symptoms of progressive supranuclear palsy appear to be related to abnormalities in the tau protein. In people with MAPT gene mutations, genetic changes disrupt the protein's normal structure and function. However, abnormal tau is also found in affected individuals without MAPT gene mutations. The defective tau protein assembles into abnormal clumps within neurons and other brain cells, although it is unclear what effect these clumps have on cell function and survival. Progressive supranuclear palsy is characterized by the gradual death of brain cells, particularly in structures deep within the brain that are essential for coordinating movement. This loss of brain cells underlies the movement abnormalities and other features of progressive supranuclear palsy. This condition is one of several related diseases known as tauopathies, which are characterized by an abnormal buildup of tau in the brain. Researchers suspect that other genetic and environmental factors also contribute to progressive supranuclear palsy. For example, the disease has been linked to genetic changes on chromosome 1 and chromosome 11. However, the specific genes involved have not been identified.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Balance Problems ?"}, {"role": "assistant", "content": "In BPPV (benign paroxysmal positional vertigo), small calcium particles in the inner ear become displaced, causing dizziness. A doctor, otolaryngologist, audiologist, or physical therapist can treat BPPV by carefully moving the head and torso to move the displaced calcium particles back to their original position Learn more about causes and treatments for BPPV. An NIDCD-supported clinical trial in BPPV showed that repositioning maneuvers work well, and offered clinicians a range of choices in selecting the treatment best suited to each individuals unique needs.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Prothrombin thrombophilia ?"}, {"role": "assistant", "content": "What kind of tests can determine if an individual has, or is a carrier of, prothrombin thrombophilia? No clinical signs or symptoms are specific for prothrombin thrombophilia. A confirmed diagnosis of this condition requires specific genetic testing via DNA analysis of the F2 gene, which provides instructions for making the protein prothrombin. The test identifies the presence of a common change (mutation) called 20210G>A. An individual can be a heterozygote (having one mutated copy of the F2 gene) or a homozygote (having two mutated copies). Most heterozygotes have a mildly elevated plasma concentration of prothrombin (which can be measured in a blood test) that is approximately 30% higher than normal. However, these values can vary greatly, and the range of prothrombin concentrations in heterozygotes overlaps significantly with the normal range. Therefore, plasma concentration of prothrombin is not reliable for diagnosis of this condition. Individuals interested in learning more about testing for prothrombin thrombophilia should speak with a genetics professional or other healthcare provider.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Tremor ?"}, {"role": "assistant", "content": "Tremors are unintentional trembling or shaking movements in one or more parts of your body. Most tremors occur in the hands. You can also have arm, head, face, vocal cord, trunk, and leg tremors. Tremors are most common in middle-aged and older people, but anyone can have them. The cause of tremors is a problem in the parts of the brain that control muscles in the body or in specific parts of the body, such as the hands. They commonly occur in otherwise healthy people. They may also be caused by problems such as - Parkinson's disease - Dystonia - Multiple sclerosis - Stroke - Traumatic brain injury - Alcohol abuse and withdrawal - Certain medicines Some forms are inherited and run in families. Others have no known cause. There is no cure for most tremors. Treatment to relieve them depends on their cause. In many cases, medicines and sometimes surgical procedures can reduce or stop tremors and improve muscle control. Tremors are not life threatening. However, they can be embarrassing and make it hard to perform daily tasks. NIH: National Institute of Neurological Disorders and Stroke", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to prevent Heart Valve Disease ?"}, {"role": "assistant", "content": "To prevent heart valve disease caused by rheumatic fever, see your doctor if you have signs of a strep infection. These signs include a painful sore throat, fever, and white spots on your tonsils. If you do have a strep infection, be sure to take all medicines prescribed to treat it. Prompt treatment of strep infections can prevent rheumatic fever, which damages the heartvalves.\n \nIts possible that exercise, a heart-healthy diet, and medicines that lower cholesterol might prevent aortic stenosis (thickening and stiffening of the aortic valve). Researchers continue to study this possibility.\n \nHeart-healthy eating, physical activity, other heart-healthy lifestyle changes, and medicines aimed at preventing a heart attack, high blood pressure, or heart failure also may help prevent heart valve disease.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Hyperinsulinemic hypoglycemia familial 3 ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Hyperinsulinemic hypoglycemia familial 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Hyperinsulinemic hypoglycemia familial 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Diabetes mellitus - Hyperinsulinemic hypoglycemia - Hypoglycemic coma - Hypoglycemic seizures - Intellectual disability - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence? The Human Phenotype Ontology provides the following list of signs and symptoms for Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the nose 90% Arrhythmia 90% Brachydactyly syndrome 90% Short distal phalanx of finger 90% Short stature 90% Short toe 90% Tapered finger 90% Aplasia/Hypoplasia of the distal phalanges of the toes 50% Cleft palate 50% Low anterior hairline 50% Reduced number of teeth 50% Abnormality of the metacarpal bones 7.5% Camptodactyly of finger 7.5% Cognitive impairment 7.5% Glossoptosis 7.5% Microcephaly 7.5% Autosomal dominant inheritance - Pierre-Robin sequence - Posteriorly placed tongue - Submucous cleft hard palate - Syncope - Tachycardia - Ventricular extrasystoles - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Roberts syndrome ?"}, {"role": "assistant", "content": "How is Roberts syndrome diagnosed? The diagnosis of Roberts syndrome is suspected in individuals with the following: Prenatal growth delay ranging from mild to severe. Average birth length and weight is typically below the third percentile in most affected infants. Limb malformations including bilateral, symmetric tetraphocomelia (phocomelia of all 4 limbs) or hypomelia (underdevelopment of the limbs) caused by mesomelic shortening (shortening of the middle part of the limb). Upper limbs are typically more severely affected than lower limbs. Other limb malformations include oligodactyly with thumb aplasia (lack of formation) or hypoplasia (underdevelopment), syndactyly, clinodactyly, and elbow and knee flexion contractures (inability to fully straighten the arms and legs). Craniofacial abnormalities including bilateral cleft lip and/or palate, micrognathia (small jaw), hypertelorism (widely-spaced eyes), exophthalmos (bulging eyes), downslanting palpebral fissures, malar hypoplasia (underdeveloped cheek bones), hypoplastic nasal alae, and ear malformations. The diagnosis of Roberts syndrome relies on a cytogenetic blood test of individuals with the above features. Cytogenetic testing would show the characteristic chromosomal abnormalities that are present in individuals with the condition. Is genetic testing available for Roberts syndrome? Genetic testing is currently available for Roberts syndrome. GeneTests lists the names of laboratories that are performing genetic testing for Roberts syndrome. To view the contact information for the clinical laboratories conducting testing click here. To access the contact information for the research laboratories performing genetic testing, click here. Please note: Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Hematuria (Blood in the Urine) ?"}, {"role": "assistant", "content": "Hematuria is treated by treating its underlying cause. If no serious condition is causing hematuria, no treatment is needed. Hematuria caused by a UTI is treated with antibiotics; urinalysis should be repeated 6 weeks after antibiotic treatment ends to be sure the infection has resolved.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Nemaline myopathy ?"}, {"role": "assistant", "content": "Nemaline myopathy is a disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement. People with nemaline myopathy have muscle weakness (myopathy) throughout the body, but it is typically most severe in the muscles of the face, neck, and limbs. This weakness can worsen over time. Affected individuals may have feeding and swallowing difficulties, foot deformities, abnormal curvature of the spine (scoliosis), and joint deformities (contractures). Mutations in at least six genes can cause nemaline myopathy. Some individuals with nemaline myopathy do not have an identified mutation. The genetic cause of the disorder is unknown in these individuals. Nemaline myopathy is usually inherited in an autosomal recessive pattern. Less often, this condition is inherited in an autosomal dominant pattern. Nemaline myopathy is divided into six types. You can search for information about a particular type of nemaline myopathy from the GARD Home page. Enter the name of the condition in the GARD search box and then select the type from the drop down menu.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Schwartz Jampel syndrome type 1 ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Schwartz Jampel syndrome type 1? Individuals with Schwartz-Jampel syndrome type 1 (SJS1) have characteristic facial features, muscle weakness (hypotonia), and muscle stiffness (myotonia). Facial features of individuals with SJS1 can seem \"fixed\" in the same expression with puckered lips due to weakening and stiffening of the facial muscles. Additional facial features may include: Blepharophimosis (narrowing of the eye opening) Epicanthal folds (skin fold of the upper eyelid covering the inner corner of the eye) Blepharospasm (involuntary blinking or spasm of the eyelids) Hypertrichosis (excessive hair) of the eye lashes Micrognathia (small lower jaw) Individuals with SJS1 usually have short stature. Other skeletal and joint findings may include: Shortened neck Pectus carinatum (outward bowing of the chest) Kyphosis (curving of the spine that causes a bowing or rounding of the back) Coxa valga (hip deformity involving an increased neck-shaft angle of the femur) Joint contractures Osteoporosis Widening of the metaphysis (portion of the bone containing the growth plate) Delayed bone age Other less common symptoms include: a high pitched voice, bilateral carpel tunnel syndrome, and malignant hyperthermia. One study suggested that as many as 20% of individuals with SJS1 have an intellectual disability; however, most individuals with SJS1 have normal intelligence. The Human Phenotype Ontology provides the following list of signs and symptoms for Schwartz Jampel syndrome type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of epiphysis morphology 90% Abnormality of the metaphyses 90% Cognitive impairment 90% EMG abnormality 90% Full cheeks 90% Gait disturbance 90% Genu valgum 90% Hypertonia 90% Limitation of joint mobility 90% Low-set, posteriorly rotated ears 90% Micromelia 90% Myotonia 90% Narrow mouth 90% Pes planus 90% Short stature 90% Skeletal dysplasia 90% Talipes 90% Trismus 90% Visual impairment 90% Abnormal vertebral ossification 50% Abnormality of the eyebrow 50% Abnormality of the pharynx 50% Blepharophimosis 50% Cataract 50% Hyperlordosis 50% Kyphosis 50% Malar flattening 50% Mask-like facies 50% Myopathy 50% Myopia 50% Overfolded helix 50% Pectus carinatum 50% Platyspondyly 50% Prominent nasal bridge 50% Ptosis 50% Reduced bone mineral density 50% Scoliosis 50% Short neck 50% Skeletal muscle hypertrophy 50% Spinal rigidity 50% Strabismus 50% Abnormality of immune system physiology 7.5% Abnormality of the ribs 7.5% Abnormality of the ureter 7.5% Abnormally straight spine 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Apnea 7.5% Arrhythmia 7.5% Attention deficit hyperactivity disorder 7.5% Cleft palate 7.5% Decreased body weight 7.5% Delayed skeletal maturation 7.5% Distichiasis 7.5% Ectopia lentis 7.5% Elbow dislocation 7.5% Feeding difficulties in infancy 7.5% Hypertelorism 7.5% Hypertrichosis 7.5% Increased bone mineral density 7.5% Laryngomalacia 7.5% Long philtrum 7.5% Low anterior hairline 7.5% Malignant hyperthermia 7.5% Microcephaly 7.5% Microcornea 7.5% Muscle weakness 7.5% Myalgia 7.5% Nephrolithiasis 7.5% Neurological speech impairment 7.5% Odontogenic neoplasm 7.5% Pectus excavatum 7.5% Polyhydramnios 7.5% Prenatal movement abnormality 7.5% Protrusio acetabuli 7.5% Pulmonary hypertension 7.5% Respiratory insufficiency 7.5% Skeletal muscle atrophy 7.5% Sprengel anomaly 7.5% Testicular torsion 7.5% Umbilical hernia 7.5% Wormian bones 7.5% Abnormality of femoral epiphysis - Anterior bowing of long bones - Autosomal recessive inheritance - Congenital hip dislocation - Coronal cleft vertebrae - Coxa valga - Coxa vara - Decreased testicular size - Flat face - Flexion contracture of toe - Generalized hirsutism - High pitched voice - Hip contracture - Hyporeflexia - Inguinal hernia - Intellectual disability - Joint contracture of the hand - Kyphoscoliosis - Long eyelashes in irregular rows - Low-set ears - Lumbar hyperlordosis - Metaphyseal widening - Osteoporosis - Pursed lips - Shoulder flexion contracture - Talipes equinovarus - Weak voice - Wrist flexion contracture - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Hypothyroidism ?"}, {"role": "assistant", "content": "The thyroid is a 2-inch-long, butterfly-shaped gland weighing less than 1 ounce. Located in the front of the neck below the larynx, or voice box, it has two lobes, one on each side of the windpipe. The thyroid is one of the glands that make up the endocrine system. The glands of the endocrine system produce and store hormones and release them into the bloodstream. The hormones then travel through the body and direct the activity of the bodys cells.\n \nThe thyroid gland makes two thyroid hormones, triiodothyronine (T3) and thyroxine (T4). T3 is made from T4 and is the more active hormone, directly affecting the tissues. Thyroid hormones affect metabolism, brain development, breathing, heart and nervous system functions, body temperature, muscle strength, skin dryness, menstrual cycles, weight, and cholesterol levels.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "what is cdc doing to address visa and vrsa?"}, {"role": "assistant", "content": "On this Page General Information about VISA/VRSA What is Staphylococcus aureus? How do VISA and VRSA get their names? What should a patient do if they suspect they have a Staph, MRSA, VISA, or VRSA infection? Are VISA and VRSA infections treatable? How can the spread of VISA and VRSA be prevented? What should a person do if a family member or close friend has VISA or VRSA? What is CDC doing to address VISA and VRSA? Recommendations and Guidelines General Information about VISA/VRSA For more images of this bacterium, search the Public Health Image Library Vancomycin [van\u2212k\u014d\u2212m\u012b\u2212sin]-intermediate Staphylococcus aureus [staff\u2212u\u2212lu\u2212kaw\u2212kus aw\u2212ree\u2212us] (also called VISA) and Vancomycin-resistant Staphylococcus aureus (also called VRSA) are specific types of antimicrobial-resistant bacteria. However, as of October 2010, all VISA and VRSA isolates have been susceptible to other Food and Drug Administration (FDA)-approved drugs. Persons who develop this type of staph infection may have underlying health conditions (such as diabetes and kidney disease), tubes going into their bodies (such as catheters), previous infections with methicillin-resistant Staphylococcus aureus (MRSA), and recent exposure to vancomycin and other antimicrobial agents. What is Staphylococcus aureus? Staphylococcus aureus is a bacterium commonly found on the skin and in the nose of about 30% of individuals. Most of the time, staph does not cause any harm. These infections can look like pimples, boils, or other skin conditions and most are able to be treated. Sometimes staph bacteria can get into the bloodstream and cause serious infections which can be fatal, including: Bacteremia or sepsis when bacteria spread to the bloodstream usually as a result of using catheters or having surgery. Pneumonia which predominantly affects people with underlying lung disease including those on mechanical ventilators. Endocarditis (infection of the heart valves) which can lead to heart failure. Osteomyelitis (bone infection) which can be caused by staph bacteria traveling in the bloodstream or put there by direct contact such as following trauma (puncture wound of foot or intravenous (IV) drug abuse). Top of page How do VISA and VRSA get their names? Staph bacteria are classified as VISA or VRSA based on laboratory tests. Laboratories perform tests to determine if staph bacteria are resistant to antimicrobial agents that might be used for treatment of infections. For vancomycin and other antimicrobial agents, laboratories determine how much of the agent it requires to inhibit the growth of the organism in a test tube. The result of the test is usually expressed as a minimum inhibitory concentration (MIC) or the minimum amount of antimicrobial agent that inhibits bacterial growth in the test tube. Therefore, staph bacteria are classified as VISA if the MIC for vancomycin is 4-8\u00b5g/ml, and classified as VRSA if the vancomycin MIC is \u226516\u00b5g/ml. Top of page What should a patient do if they suspect they have a staph, MRSA, VISA, or VRSA infection? See a healthcare provider. Top of page Are VISA and VRSA infections treatable? Yes. As of October 2010, all VISA and VRSA isolates have been susceptible to several Food and Drug Administration (FDA)-approved drugs. Top of page How can the spread of VISA and VRSA be prevented? Use of appropriate infection control practices (such as wearing gloves before and after contact with infectious body substances and adherence to hand hygiene) by healthcare personnel can reduce the spread of VISA and VRSA. Top of page What should a person do if a family member or close friend has VISA or VRSA? VISA and VRSA are types of antibiotic-resistant staph bacteria. Therefore, as with all staph bacteria, spread occurs among people having close physical contact with infected patients or contaminated material, such as bandages. Persons having close physical contact with infected patients while they are outside of the healthcare setting should: (1) keep their hands clean by washing thoroughly with soap and water, and (2) avoid contact with other people's wounds or material contaminated from wounds. If they go to the hospital to visit a friend or family member who is infected with VISA or VRSA , they must follow the hospital's recommended precautions. Top of page What is CDC doing to address VISA and VRSA? In addition to providing guidance for clinicians and infection control personnel, CDC is also working with state and local health agencies, healthcare facilities, and clinical microbiology laboratories to ensure that laboratories are using proper methods to detect VISA and VRSA. Top of page Recommendations and Guidelines CDC issued a Clinical Reminder, in 2010, which serves as a reminder about the important role of clinical laboratories in the diagnosis of VRSA cases to ensure prompt recognition, isolation, and management by infection control personnel. Investigation and Control of Vancomycin-Resistant Staphylococcus aureus (VRSA) [PDF - 300 KB] - This document is a guide to conducting a public health investigation of patients from whom vancomycin-resistant Staphylococcus aureus (VRSA, vancomycin MIC \u2265 16 \u00b5g/ml) has been isolated. The information reflects the experience gained from field investigations of the first fourteen VRSA identified in the United States. Top of page", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What to do for Growth Failure in Children with Chronic Kidney Disease ?"}, {"role": "assistant", "content": "- Growth failure is a complication of chronic kidney disease (CKD) in which children do not grow as expected. - Health care providers use charts to monitor the growth of children with CKD and look for signs of growth failure. - Researchers have found that many factors cause growth failure in children with CKD. - Health care providers treat growth failure in children with CKD with - changes in eating, diet, and nutrition - medications - growth hormone therapy - Encouraging children to develop healthy eating habits can help prevent poor nutrition and promote healthy growing. - The health care team will work with parents or caretakers to develop a healthy diet tailored to meet the needs of their child. - When a health care provider diagnoses a child with CKD and the child begins to show signs of growth failure, the health care provider may prescribe daily human growth hormone injections.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Alopecia areata ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Alopecia areata? The Human Phenotype Ontology provides the following list of signs and symptoms for Alopecia areata. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Alopecia areata - Alopecia totalis - Autoimmunity - Multifactorial inheritance - Nail pits - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Merkel cell carcinoma ?"}, {"role": "assistant", "content": "Merkel cell carcinoma (MCC) is a rare type of skin cancer that usually appears as a single, painless, lump on sun-exposed skin. It is typically red or violet in color. It is considered fast-growing and can spread quickly to surrounding tissues, nearby lymph nodes, or more distant parts of the body. Merkel cell polyomavirus has been detected in about 80% of the tumors tested. It is thought that this virus can cause somatic mutations leading to MCC when the immune system is weakened. Other risk factors for developing MCC include ultraviolet radiation and being over 50 years of age. Treatment should begin early and depends on the location and size of the cancer, and the extent to which it has spread.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to cone-rod dystrophy ?"}, {"role": "assistant", "content": "Mutations in approximately 30 genes are known to cause cone-rod dystrophy. Approximately 20 of these genes are associated with the form of cone-rod dystrophy that is inherited in an autosomal recessive pattern. Mutations in the ABCA4 gene are the most common cause of autosomal recessive cone-rod dystrophy, accounting for 30 to 60 percent of cases. At least 10 genes have been associated with cone-rod dystrophy that is inherited in an autosomal dominant pattern. Mutations in the GUCY2D and CRX genes account for about half of these cases. Changes in at least two genes cause the X-linked form of the disorder, which is rare. The genes associated with cone-rod dystrophy play essential roles in the structure and function of specialized light receptor cells (photoreceptors) in the retina. The retina contains two types of photoreceptors, rods and cones. Rods are needed for vision in low light, while cones provide vision in bright light, including color vision. Mutations in any of the genes associated with cone-rod dystrophy lead to a gradual loss of rods and cones in the retina. The progressive degeneration of these cells causes the characteristic pattern of vision loss that occurs in people with cone-rod dystrophy. Cones typically break down before rods, which is why sensitivity to light and impaired color vision are usually the first signs of the disorder. (The order of cell breakdown is also reflected in the condition name.) Night vision is disrupted later, as rods are lost. Some of the genes associated with cone-rod dystrophy are also associated with other eye diseases, including a group of related eye disorders called rod-cone dystrophy. Rod-cone dystrophy has signs and symptoms similar to those of cone-rod dystrophy. However, rod-cone dystrophy is characterized by deterioration of the rods first, followed by the cones, so night vision is affected before daylight and color vision. The most common form of rod-cone dystrophy is a condition called retinitis pigmentosa.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Encephalocraniocutaneous lipomatosis ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Encephalocraniocutaneous lipomatosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Encephalocraniocutaneous lipomatosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Alopecia 90% Cognitive impairment 90% Multiple lipomas 90% Retinopathy 90% Seizures 90% Abnormality of the tricuspid valve 50% Aplasia/Hypoplasia of the corpus callosum 50% Bone cyst 50% Cerebral calcification 50% Cerebral cortical atrophy 50% Craniofacial hyperostosis 50% Hypertonia 50% Iris coloboma 50% Macrocephaly 50% Neoplasm of the skeletal system 50% Neurological speech impairment 50% Opacification of the corneal stroma 50% Osteolysis 50% Pulmonary hypertension 50% Ventriculomegaly 50% Visceral angiomatosis 50% Abnormality of the aorta 7.5% Hemiplegia/hemiparesis 7.5% Neoplasm of the nervous system 7.5% Skeletal dysplasia 7.5% Abnormality of the anterior chamber - Agenesis of corpus callosum - Arachnoid cyst - Atria septal defect - Cerebellar hypoplasia - Cleft eyelid - Cortical dysplasia - Cryptorchidism - Dandy-Walker malformation - Epibulbar dermoid - Hydrocephalus - Hydronephrosis - Hypoplasia of the corpus callosum - Hypoplasia of the iris - Linear hyperpigmentation - Lipoma - Lipomas of the central neryous system - Microphthalmia - Pelvic kidney - Peripheral pulmonary artery stenosis - Sclerocornea - Subaortic stenosis - Subcutaneous lipoma - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) multiple sclerosis ?"}, {"role": "assistant", "content": "Multiple sclerosis is a condition characterized by areas of damage (lesions) on the brain and spinal cord. These lesions are associated with destruction of the covering that protects nerves and promotes the efficient transmission of nerve impulses (the myelin sheath) and damage to nerve cells. Multiple sclerosis is considered an autoimmune disorder; autoimmune disorders occur when the immune system malfunctions and attacks the body's own tissues and organs, in this case tissues of the nervous system. Multiple sclerosis usually begins in early adulthood, between ages 20 and 40. The symptoms vary widely, and affected individuals can experience one or more effects of nervous system damage. Multiple sclerosis often causes sensory disturbances in the limbs, including a prickling or tingling sensation (paresthesia), numbness, pain, and itching. Some people experience Lhermitte sign, which is an electrical shock-like sensation that runs down the back and into the limbs. This sensation usually occurs when the head is bent forward. Problems with muscle control are common in people with multiple sclerosis. Affected individuals may have tremors, muscle stiffness (spasticity), exaggerated reflexes (hyperreflexia), weakness or partial paralysis of the muscles of the limbs, difficulty walking, or poor bladder control. Multiple sclerosis is also associated with vision problems, such as blurred or double vision or partial or complete vision loss. Infections that cause fever can make the symptoms worse. There are several forms of multiple sclerosis: relapsing-remitting MS, secondary progressive MS, primary progressive MS, and progressive relapsing MS. The most common is the relapsing-remitting form, which affects approximately 80 percent of people with multiple sclerosis. Individuals with this form of the condition have periods during which they experience symptoms, called clinical attacks, followed by periods without any symptoms (remission). The triggers of clinical attacks and remissions are unknown. After about 10 years, relapsing-remitting MS usually develops into another form of the disorder called secondary progressive MS. In this form, there are no remissions, and symptoms of the condition continually worsen. Primary progressive MS is the next most common form, affecting approximately 10 to 20 percent of people with multiple sclerosis. This form is characterized by constant symptoms that worsen over time, with no clinical attacks or remissions. Primary progressive MS typically begins later than the other forms, around age 40. Progressive relapsing MS is a rare form of multiple sclerosis that initially appears like primary progressive MS, with constant symptoms. However, people with progressive relapsing MS also experience clinical attacks of more severe symptoms.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Anxiety Disorders ?"}, {"role": "assistant", "content": "Occasional anxiety is a normal part of life. You might feel anxious when faced with a problem at work, before taking a test, or making an important decision. However, anxiety disorders involve more than temporary worry or fear. For a person with an anxiety disorder, the anxiety does not go away and can get worse over time. These feelings can interfere with daily activities such as job performance, school work, and relationships. (Watch the video to learn about the types of anxiety disorders. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.) Anxiety Disorders in Older Adults Studies estimate that anxiety disorders affect up to 15 percent of older adults in a given year. More women than men experience anxiety disorders. They tend to be less common among older adults than younger adults. But developing an anxiety disorder late in life is not a normal part of aging. Anxiety disorders commonly occur along with other mental or physical illnesses, including alcohol or substance abuse, which may mask anxiety symptoms or make them worse. In older adults, anxiety disorders often occur at the same time as depression, heart disease, diabetes, and other medical problems. In some cases, these other problems need to be treated before a person can respond well to treatment for anxiety. There are three types of anxiety disorders discussed here. - generalized anxiety disorder - social phobia - panic disorder generalized anxiety disorder social phobia panic disorder Generalized Anxiety Disorder (GAD) All of us worry about things like health, money, or family problems. But people with generalized anxiety disorder (GAD) are extremely worried about these and many other things, even when there is little or no reason to worry about them. They are very anxious about just getting through the day. They think things will always go badly. At times, worrying keeps people with GAD from doing everyday tasks. Learn more about generalized anxiety disorder (GAD). Social Phobia In social phobia, a person fears being judged by others or of being embarrassed. This fear can get in the way of doing everyday things such as going to work, running errands, or meeting with friends. People who have social phobia often know that they shouldn't be so afraid, but they can't control their fear. Learn more about social phobia. Panic Disorder In panic disorder, a person has sudden, unexplained attacks of terror, and often feels his or her heart pounding. During a panic attack, a person feels a sense of unreality, a fear of impending doom, or a fear of losing control. Panic attacks can occur at any time. Learn more about panic disorder. Anxiety Disorders Are Treatable In general, anxiety disorders are treated with medication, specific types of psychotherapy, or both. Treatment choices depend on the type of disorder, the persons preference, and the expertise of the doctor. If you think you have an anxiety disorder, talk to your doctor.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Nonalcoholic steatohepatitis ?"}, {"role": "assistant", "content": "How might nonalcoholic steatohepatitis be treated? Currently, there are no specific therapies for NASH. The most important recommendations given to persons with this disease are to: reduce their weight (if obese or overweight) follow a balanced and healthy diet increase physical activity avoid alcohol avoid unnecessary medications These are standard recommendations, but they can make a difference. They are also helpful for other conditions, such as heart disease, diabetes, and high cholesterol. Individuals with other medical conditions (diabetes, high blood pressure, or elevated cholesterol) should be treated with medication as advised by their physician. Some new treatment options are now being studied in clinical trials. These include the use of antioxidants (such as vitamin E, selenium, and betaine) and some newer antidiabetic medications (metformin, rosiglitazone, and pioglitazone) which treat insulin resistance.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for infantile systemic hyalinosis ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of infantile systemic hyalinosis: - Gene Review: Gene Review: Hyalinosis, Inherited Systemic - Genetic Testing Registry: Hyaline fibromatosis syndrome - MedlinePlus Encyclopedia: Protein-losing enteropathy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Carotid Artery Disease ?"}, {"role": "assistant", "content": "Carotid artery disease may not cause signs or symptoms until it severely narrows or blocks a carotid artery. Signs and symptoms may include a bruit, a transient ischemic attack(TIA), or a stroke.\n \nBruit\n \nDuring a physical exam, your doctor may listen to your carotid arteries with a stethoscope. He or she may hear a whooshing sound called a bruit. This sound may suggest changed or reduced blood flow due to plaque buildup. To find out more, your doctor may recommend tests.\n \nNot all people who have carotid artery disease have bruits.\n \nTransient Ischemic Attack (Mini-Stroke)\n \nFor some people, having a transient ischemic attack (TIA), or mini-stroke, is the first sign of carotid artery disease. During a mini-stroke, you may have some or all of the symptoms of a stroke. However, the symptoms usually go away on their own within 24 hours.\n \nStroke and mini-stroke symptoms may include:\n \nA sudden, severe headache with no known cause\n \nDizziness or loss of balance\n \nInability to move one or more of your limbs\n \nSudden trouble seeing in one or both eyes\n \nSudden weakness or numbness in the face or limbs, often on just one side of the body\n \nTrouble speaking or understanding speech\n \nEven if the symptoms stop quickly, call 911 for emergency help. Do not drive yourself to the hospital. Its important to get checked and to get treatment started as soon as possible.\n \nA mini-stroke is a warning sign that youre at high risk of having a stroke. You shouldnt ignore these symptoms. Getting medical care can help find possible causes of a mini-stroke and help you manage risk factors. These actions might prevent a future stroke.\n \nAlthough a mini-stroke may warn of a stroke, it doesnt predict when a stroke will happen. A stroke may occur days, weeks, or even months after a mini-stroke.\n \nStroke\n \nThe symptoms of a stroke are the same as those of a mini-stroke, but the results are not. A stroke can cause lasting brain damage; long-term disability, such as vision or speech problems or paralysis (an inability to move); or death. Most people who have strokes have not previously had warning mini-strokes.\n \nGetting treatment for a stroke right away is very important. You have the best chance for full recovery if treatment to open a blocked artery is given within 4 hours of symptom onset. The sooner treatment occurs, the better your chances of recovery.\n \nCall 911 for emergency help as soon as symptoms occur. Do not drive yourself to the hospital. Its very important to get checked and to get treatment started as soon as possible.\n \nMake those close to you aware of stroke symptoms and the need for urgent action. Learning the signs and symptoms of a stroke will allow you to help yourself or someone close to you lower the risk of brain damage or death due to a stroke.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by ophthalmo-acromelic syndrome ?"}, {"role": "assistant", "content": "The prevalence of ophthalmo-acromelic syndrome is not known; approximately 35 cases have been reported in the medical literature.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Dry Mouth ?"}, {"role": "assistant", "content": "Dry mouth is the feeling that there is not enough saliva in your mouth. Everyone has a dry mouth once in a while - if they are nervous, upset or under stress. But if you have a dry mouth all or most of the time, it can be uncomfortable and can lead to serious health problems. Symptoms of dry mouth include - A sticky, dry feeling in the mouth - Trouble chewing, swallowing, tasting, or speaking - A burning feeling in the mouth - A dry feeling in the throat - Cracked lips - A dry, rough tongue - Mouth sores - An infection in the mouth Dry mouth is not a normal part of aging. Causes include some medicines, radiation therapy, chemotherapy, and nerve damage. Salivary gland diseases, Sjogren's syndrome, HIV/AIDS, and diabetes can also cause dry mouth. Treatment depends on the cause. Things you can do include sipping water, avoiding drinks with caffeine, tobacco, and alcohol, and chewing sugarless gum or sucking on sugarless hard candy. NIH: National Institute of Dental and Craniofacial Research", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for hypophosphatasia ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of hypophosphatasia: - Gene Review: Gene Review: Hypophosphatasia - Genetic Testing Registry: Adult hypophosphatasia - Genetic Testing Registry: Childhood hypophosphatasia - Genetic Testing Registry: Hypophosphatasia - Genetic Testing Registry: Infantile hypophosphatasia - MedlinePlus Encyclopedia: Osteomalacia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Who is at risk for Childhood Soft Tissue Sarcoma? ?"}, {"role": "assistant", "content": "Having certain diseases and inherited disorders can increase the risk of childhood soft tissue sarcoma. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. Talk with your childs doctor if you think your child may be at risk. Risk factors for childhood soft tissue sarcoma include having the following inherited disorders: - Li-Fraumeni syndrome. - Familial adenomatous polyposis (FAP). - Retinoblastoma 1 gene changes. - Neurofibromatosis type 1 (NF1). - Werner syndrome. Other risk factors include the following: - Past treatment with radiation therapy. - Having AIDS (acquired immune deficiency syndrome) and Epstein-Barr virus infection at the same time.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Stroke ?"}, {"role": "assistant", "content": "A stroke is a medical emergency. Strokes happen when blood flow to your brain stops. Within minutes, brain cells begin to die. There are two kinds of stroke. The more common kind, called ischemic stroke, is caused by a blood clot that blocks or plugs a blood vessel in the brain. The other kind, called hemorrhagic stroke, is caused by a blood vessel that breaks and bleeds into the brain. \"Mini-strokes\" or transient ischemic attacks (TIAs), occur when the blood supply to the brain is briefly interrupted. Symptoms of stroke are - Sudden numbness or weakness of the face, arm or leg (especially on one side of the body) - Sudden confusion, trouble speaking or understanding speech - Sudden trouble seeing in one or both eyes - Sudden trouble walking, dizziness, loss of balance or coordination - Sudden severe headache with no known cause If you have any of these symptoms, you must get to a hospital quickly to begin treatment. Acute stroke therapies try to stop a stroke while it is happening by quickly dissolving the blood clot or by stopping the bleeding. Post-stroke rehabilitation helps individuals overcome disabilities that result from stroke damage. Drug therapy with blood thinners is the most common treatment for stroke. NIH: National Institute of Neurological Disorders and Stroke", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Diabetic Neuropathies: The Nerve Damage of Diabetes ?"}, {"role": "assistant", "content": "Doctors diagnose neuropathy on the basis of symptoms and a physical exam. During the exam, the doctor may check blood pressure, heart rate, muscle strength, reflexes, and sensitivity to position changes, vibration, temperature, or light touch.\n \nFoot Exams\n \nExperts recommend that people with diabetes have a comprehensive foot exam each year to check for peripheral neuropathy. People diagnosed with peripheral neuropathy need more frequent foot exams. A comprehensive foot exam assesses the skin, muscles, bones, circulation, and sensation of the feet. The doctor may assess protective sensation or feeling in the feet by touching them with a nylon monofilamentsimilar to a bristle on a hairbrushattached to a wand or by pricking them with a pin. People who cannot sense pressure from a pinprick or monofilament have lost protective sensation and are at risk for developing foot sores that may not heal properly. The doctor may also check temperature perception or use a tuning fork, which is more sensitive than touch pressure, to assess vibration perception.\n \nOther Tests\n \nThe doctor may perform other tests as part of the diagnosis.\n \n- Nerve conduction studies or electromyography are sometimes used to help determine the type and extent of nerve damage. Nerve conduction studies check the transmission of electrical current through a nerve. Electromyography shows how well muscles respond to electrical signals transmitted by nearby nerves. These tests are rarely needed to diagnose neuropathy. - A check of heart rate variability shows how the heart responds to deep breathing and to changes in blood pressure and posture. - Ultrasound uses sound waves to produce an image of internal organs. An ultrasound of the bladder and other parts of the urinary tract, for example, can be used to assess the structure of these organs and show whether the bladder empties completely after urination.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Thyroglossal tract cyst ?"}, {"role": "assistant", "content": "Can thyroglossal duct cysts cause weight loss? Weight loss is not commonly cited as a specific symptom of thyroglossal duct cysts, however large cysts can cause difficulty swallowing and breathing. Infected cysts may be tender with associated difficulty in swallowing, loss of voice, fever, and increasing mass size. Some patients with an infected cyst experience drainage which can result in a foul taste in the mouth. These symptoms may make feedings difficult and unpleasant. We recommend you speak with your childs healthcare provider regarding his symptom.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Fecal Incontinence ?"}, {"role": "assistant", "content": "Fecal incontinence has many causes, including\n \n- diarrhea - constipation - muscle damage or weakness - nerve damage - loss of stretch in the rectum - childbirth by vaginal delivery - hemorrhoids and rectal prolapse - rectocele - inactivity\n \nDiarrhea\n \nDiarrhea can cause fecal incontinence. Loose stools fill the rectum quickly and are more difficult to hold than solid stools. Diarrhea increases the chance of not reaching a bathroom in time.\n \nConstipation\n \nConstipation can lead to large, hard stools that stretch the rectum and cause the internal sphincter muscles to relax by reflex. Watery stool builds up behind the hard stool and may leak out around the hard stool, leading to fecal incontinence.\n \nThe type of constipation that is most likely to lead to fecal incontinence occurs when people are unable to relax their external sphincter and pelvic floor muscles when straining to have a bowel movement, often mistakenly squeezing these muscles instead of relaxing them. This squeezing makes it difficult to pass stool and may lead to a large amount of stool in the rectum. This type of constipation, called dyssynergic defecation or disordered defecation, is a result of faulty learning. For example, children or adults who have pain when having a bowel movement may unconsciously learn to squeeze their muscles to delay the bowel movement and avoid pain.\n \nMuscle Damage or Weakness\n \nInjury to one or both of the sphincter muscles can cause fecal incontinence. If these muscles, called the external and internal anal sphincter muscles, are damaged or weakened, they may not be strong enough to keep the anus closed and prevent stool from leaking.\n \nTrauma, childbirth injuries, cancer surgery, and hemorrhoid surgery are possible causes of injury to the sphincters. Hemorrhoids are swollen blood vessels in and around the anus and lower rectum.\n \nNerve Damage\n \nThe anal sphincter muscles wont open and close properly if the nerves that control them are damaged. Likewise, if the nerves that sense stool in the rectum are damaged, a person may not feel the urge to go to the bathroom. Both types of nerve damage can lead to fecal incontinence. Possible sources of nerve damage are childbirth; a long-term habit of straining to pass stool; spinal cord injury; and diseases, such as diabetes and multiple sclerosis, that affect the nerves that go to the sphincter muscles and rectum. Brain injuries from stroke, head trauma, or certain diseases can also cause fecal incontinence.\n \nLoss of Stretch in the Rectum\n \nNormally, the rectum stretches to hold stool until a person has a bowel movement. Rectal surgery, radiation treatment, and inflammatory bowel diseaseschronic disorders that cause irritation and sores on the lining of the digestive systemcan cause the rectal walls to become stiff. The rectum then cant stretch as much to hold stool, increasing the risk of fecal incontinence.\n \nChildbirth by Vaginal Delivery\n \nChildbirth sometimes causes injuries to muscles and nerves in the pelvic floor. The risk is greater if forceps are used to help deliver the baby or if an episiotomya cut in the vaginal area to prevent the babys head from tearing the vagina during birthis performed. Fecal incontinence related to childbirth can appear soon after delivery or many years later.\n \nHemorrhoids and Rectal Prolapse\n \nExternal hemorrhoids, which develop under the skin around the anus, can prevent the anal sphincter muscles from closing completely. Rectal prolapse, a condition that causes the rectum to drop down through the anus, can also prevent the anal sphincter muscles from closing well enough to prevent leakage. Small amounts of mucus or liquid stool can then leak through the anus.\n \nRectocele\n \nRectocele is a condition that causes the rectum to protrude through the vagina. Rectocele can happen when the thin layer of muscles separating the rectum from the vagina becomes weak. For women with rectocele, straining to have a bowel movement may be less effective because rectocele reduces the amount of downward force through the anus. The result may be retention of stool in the rectum. More research is needed to be sure rectocele increases the risk of fecal incontinence.\n \nInactivity\n \nPeople who are inactive, especially those who spend many hours a day sitting or lying down, have an increased risk of retaining a large amount of stool in the rectum. Liquid stool can then leak around the more solid stool. Frail, older adults are most likely to develop constipation-related fecal incontinence for this reason.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is neuroferritinopathy inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. Other cases may result from new mutations in the gene. These cases occur in people with no history of the disorder in their family.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Multifocal choroiditis ?"}, {"role": "assistant", "content": "How is multifocal choroiditis diagnosed? Multifocal choroiditis (MFC) is diagnosed by an ophthalmologist, using a series of imaging techniques. A test called flourescein angiography uses a special dye and camera to study blood flow in the back layers of the eye. When a person has MFC, lesions in the eye will appear as fluorescent spots. Vision tests may also show an enlarged blind spot or a decrease in visual clarity. Often, doctors may order blood tests to check if the symptoms are caused by a viral disease rather than MFC.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Goodpasture Syndrome ?"}, {"role": "assistant", "content": "Goodpasture syndrome is a pulmonary-renal syndrome, which is a group of acute illnesses involving the kidneys and lungs. Goodpasture syndrome includes all of the following conditions:\n \n- glomerulonephritisinflammation of the glomeruli, which are tiny clusters of looping blood vessels in the kidneys that help filter wastes and extra water from the blood - the presence of anti-glomerular basement membrane (GBM) antibodies; the GBM is part of the glomeruli and is composed of collagen and other proteins - bleeding in the lungs\n \nIn Goodpasture syndrome, immune cells produce antibodies against a specific region of collagen. The antibodies attack the collagen in the lungs and kidneys.\n \nErnest Goodpasture first described the syndrome during the influenza pandemic of 1919 when he reported on a patient who died from bleeding in the lungs and kidney failure. Diagnostic tools to confirm Goodpasture syndrome were not available at that time, so it is not known whether the patient had true Goodpasture syndrome or vasculitis. Vasculitis is an autoimmune conditiona disorder in which the bodys immune system attacks the bodys own cells and organsthat involves inflammation in the blood vessels and can cause similar lung and kidney problems.\n \nGoodpasture syndrome is sometimes called anti-GBM disease. However, anti-GBM disease is only one cause of pulmonary-renal syndromes, including Goodpasture syndrome.\n \nGoodpasture syndrome is fatal unless quickly diagnosed and treated.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Pelizaeus-Merzbacher disease inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an X-linked recessive pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. Because females have two copies of the X chromosome, one altered copy of the gene in each cell usually leads to less severe symptoms in females than in males, or may cause no symptoms at all. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. In X-linked recessive inheritance, a female with one altered copy of the gene in each cell is called a carrier. She can pass on the gene, but generally does not experience signs and symptoms of the disorder. Some females who carry a PLP1 mutation, however, may experience muscle stiffness and a decrease in intellectual function. Females with one PLP1 mutation have an increased risk of experiencing progressive deterioration of cognitive functions (dementia) later in life.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to prevent Peripheral Arterial Disease (P.A.D.) ?"}, {"role": "assistant", "content": "What Causes P.A.D.? The most common cause of P.A.D. is atherosclerosis, a buildup of plaque in the arteries. The exact cause of atherosclerosis isn't known. Certain people are at higher risk for developing atherosclerosis. The disease may start if certain factors damage the inner layers of the arteries. These factors include - smoking - high amounts of certain fats and cholesterol in the blood - high blood pressure - high amounts of sugar in the blood due to insulin resistance or diabetes. smoking high amounts of certain fats and cholesterol in the blood high blood pressure high amounts of sugar in the blood due to insulin resistance or diabetes. The major risk factors for P.A.D. are smoking, older age, and having certain diseases or conditions. The Effects of Smoking Smoking is the main risk factor for P.A.D. Your risk of P.A.D. increases four times if you smoke or have a history of smoking. On average, people who smoke and develop P.A.D. have symptoms 10 years earlier than people who don't smoke and develop P.A.D. Quitting smoking slows the progress of P.A.D. Smoking even one or two cigarettes a day can interfere with P.A.D. treatments. People who smoke and people who have diabetes are at highest risk for P.A.D. complications such as gangrene (tissue death) in the leg from decreased blood flow. Older Age Older age also is a risk factor for P.A.D. Plaque builds up in your arteries as you age. About 1 in every 20 Americans over the age of 50 has P.A.D. The risk continues to rise as you get older. Older age combined with other factors, such as smoking or diabetes, also puts you at higher risk for P.A.D. Diseases That Put You at Risk Many diseases and conditions can raise your risk of P.A.D., including - diabetes. About 1 in 3 people older than 50 who has diabetes also has P.A.D. - high blood pressure - high blood cholesterol - coronary heart disease (CHD) - stroke - metabolic syndrome (a group of risk factors that raise your risk of CHD and other health problems, such as P.A.D., stroke, and diabetes). diabetes. About 1 in 3 people older than 50 who has diabetes also has P.A.D. high blood pressure high blood cholesterol coronary heart disease (CHD) stroke metabolic syndrome (a group of risk factors that raise your risk of CHD and other health problems, such as P.A.D., stroke, and diabetes). A family history of these conditions makes P.A.D. more likely. Reducing Your Risk for P.A.D. Taking action to control your risk factors can help prevent or delay P.A.D. There are several helpful lifestyle changes you can make. - Quit smoking. Smoking is the biggest risk factor for P.A.D. - Eat a healthy diet. Look for foods that are low in total fat, saturated fat, trans fat, cholesterol, and sodium (salt). - Get regular exercise and physical activity. Quit smoking. Smoking is the biggest risk factor for P.A.D. Eat a healthy diet. Look for foods that are low in total fat, saturated fat, trans fat, cholesterol, and sodium (salt). Get regular exercise and physical activity. These lifestyle changes can reduce your risk for P.A.D. and its complications. They can also help prevent and control conditions such as diabetes and high blood pressure that can lead to P.A.D.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Balance Problems ?"}, {"role": "assistant", "content": "A balance disorder is a disturbance of the body systems controlling balance. This disturbance can make people feel dizzy, unsteady, or as if they were spinning. Balance disorders are a common cause of falls and fall-related injuries, such as hip fractures.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Nail Diseases ?"}, {"role": "assistant", "content": "Your toenails and fingernails protect the tissues of your toes and fingers. They are made up of layers of a hardened protein called keratin, which is also in your hair and skin. The health of your nails can be a clue to your overall health. Healthy nails are usually smooth and consistent in color. Specific types of nail discoloration and changes in growth rate can be signs of lung, heart, kidney, and liver diseases, as well as diabetes and anemia. White spots and vertical ridges are harmless. Nail problems that sometimes require treatment include - Bacterial and fungal infections - Ingrown nails - Tumors - Warts Keeping your nails clean, dry, and trimmed can help you avoid some problems. Do not remove the cuticle, which can cause infection.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to distal hereditary motor neuropathy, type V ?"}, {"role": "assistant", "content": "Mutations in the BSCL2 and GARS genes cause distal hereditary motor neuropathy, type V. The BSCL2 gene provides instructions for making a protein called seipin, whose function is unknown. Mutations in the BSCL2 gene likely alter the structure of seipin, causing it to fold into an incorrect 3-dimensional shape. Research findings indicate that misfolded seipin proteins accumulate in the endoplasmic reticulum, which is a structure inside the cell that is involved in protein processing and transport. This accumulation likely damages and kills motor neurons (specialized nerve cells in the brain and spinal cord that control muscle movement), leading to muscle weakness in the hands and feet. The GARS gene provides instructions for making an enzyme called glycyl-tRNA synthetase, which is involved in the production (synthesis) of proteins. It is unclear how GARS gene mutations lead to distal hereditary motor neuropathy, type V. The mutations probably reduce the activity of glycyl-tRNA synthetase. A reduction in the activity of this enzyme may impair transmission of nerve impulses. As a result, nerve cells slowly lose the ability to communicate with muscles in the hands and feet. Mutations in other genes may also cause distal hereditary motor neuropathy, type V.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by Laron syndrome ?"}, {"role": "assistant", "content": "Laron syndrome is a rare disorder. About 350 people have been diagnosed with the condition worldwide. The largest single group of affected individuals (about 100 people) lives in an area of southern Ecuador.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Surviving Cancer ?"}, {"role": "assistant", "content": "Fatigue, or feeling extremely tired, is a common complaint during the first year after cancer treatment ends. Many factors may contribute to treatment-related fatigue, including cancer therapy or other problems such as stress, poor nutrition, and depression. Researchers are still learning about the multiple reasons for fatigue after treatment.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by Axenfeld-Rieger syndrome ?"}, {"role": "assistant", "content": "Axenfeld-Rieger syndrome has an estimated prevalence of 1 in 200,000 people.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "what research (or clinical trials) is being done for Kennedy's Disease ?"}, {"role": "assistant", "content": "The NINDS supports a broad spectrum of research on motor neuron diseases, such as Kennedy's disease. Much of this research is aimed at increasing scientific understanding of these diseases and, ultimately, finding ways to prevent, treat, and cure them.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Thalassemia ?"}, {"role": "assistant", "content": "How might thalassemia be treated? The best treatment options depend on the severity of thalassemia. People affected by a mild form often need little to no treatment, while people with intermediate to severe thalassemias may require frequent blood transfusions, iron chelation therapy (treatments to remove excess iron from the body), and/or folic acid supplementation. For more information on the treatment of thalassemia, please click here.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Sickle Cell Disease ?"}, {"role": "assistant", "content": "Health Maintenance To Prevent Complications\n \nBabies with sickle cell disease (SCD) should be referred to a doctor or provider group that has experience taking care of people with this disease. The doctor might be a hematologist (a doctor with special training in blood diseases) or an experienced general pediatrician, internist, or family practitioner.\n \nFor infants, the first SCD visit should take place before 8 weeks of age.\n \nIf someone was born in a country that doesnt perform newborn SCD screening, he or she might be diagnosed with SCD later in childhood. These people should also be referred as soon as possible for special SCD care.\n \n\n \n\n \nExamining the person\n \nGiving medicines and immunizations\n \nPerforming tests\n \nEducating families about the disease and what to watch out for\n \n\n \nPreventing Infection\n \nIn SCD, the spleen doesnt work properly or doesnt work at all. This problem makes people with SCD more likely to get severe infections.\n \nPenicillin\n \nIn children with SCD, taking penicillin two times a day has been shown to reduce the chance of having a severe infection caused by the pneumococcus bacteria. Infants need to take liquid penicillin. Older children can take tablets.\n \nMany doctors will stop prescribing penicillin after a child has reached the age of 5. Some prefer to continue this antibiotic throughout life, particularly if a person has hemoglobin SS or hemoglobin S0 thalassemia, since people with SCD are still at risk. All people who have had surgical removal of the spleen, called a splenectomy, or a past infection with pneumococcus should keep taking penicillin throughout life.\n \nImmunizations\n \nPeople with SCD should receive all recommended childhood vaccines. They should also receive additional vaccines to prevent other infections.\n \nPneumococcus. Even though all children routinely receive the vaccine against pneumococcus (PCV13), children with SCD should also receive a second kind of vaccine against pneumococcus (PPSV23). This second vaccine is given after 24 months of age and again 5 years later. Adults with SCD who have not received any pneumococcal vaccine should get a dose of the PCV13 vaccine. They should later receive the PPSV23 if they have not already received it or it has been more than 5 years since they did. A person should follow these guidelines even if he or she is still taking penicillin.\n \nInfluenza. All people with SCD should receive an influenza shot every year at the start of flu season. This should begin at 6 months of age. Only the inactivated vaccine, which comes as a shot, should be used in people with SCD.\n \nMeningococcus. A child with SCD should receive this vaccine (Menactra or Menveo) at 2, 4, 6, and 1215 months of age. The child should receive a booster vaccine 3 years after this series of shots, then every 5 years after that.\n \nScreening Tests and Evaluations\n \nHeight, Weight, Blood Pressure, and Oxygen Saturation\n \nDoctors will monitor height and weight to be sure that a child is growing properly and that a person with SCD is maintaining a healthy weight.\n \nDoctors will also track a persons blood pressure. When a person with SCD has high blood pressure, it needs to be treated promptly because it can increase the risk of stroke.\n \nOxygen saturation testing provides information about how much oxygen the blood is carrying.\n \nBlood and Urine Testing\n \nPeople with SCD need to have frequent lab tests.\n \nBlood tests help to establish a persons baseline for problems like anemia. Blood testing also helps to show whether a person has organ damage, so that it can be treated early.\n \nUrine testing can help to detect early kidney problems or infections.\n \nTranscranial Doppler (TCD) Ultrasound Screening\n \nChildren who have hemoglobin SS or hemoglobin S0 thalassemia and are between the ages of 2 and 16 should have TCD testing once a year.\n \nThis study can find out whether a child is at higher risk for stroke. When the test is abnormal, regular blood transfusions can decrease the chances of having a stroke.\n \nThe child is awake during the TCD exam. The test does not hurt at all. The TCD machine uses sound waves to measure blood flow like the ultrasound machine used to examine pregnant women.\n \nEye Examinations\n \nAn eye doctor, or ophthalmologist, should examine a persons eyes every 12 years from the age of 10 onwards.\n \nThese exams can detect if there are SCD-related problems of the eye. Regular exams can help doctors find and treat problems early to prevent loss of vision. A person should see his or her doctor right away for any sudden change in vision.\n \nPulmonary Hypertension\n \nDoctors have different approaches to screening for pulmonary hypertension. This is because studies have not given clear information as to when and how a person should receive the screening. People with SCD and their caretakers should discuss with their doctor whether screening makes sense for them.\n \nCognitive Screening\n \nPeople with sickle cell disease can develop cognitive (thinking) problems that may be hard to notice early in life.\n \nSometimes these problems are caused by silent strokes that can only be seen with magnetic resonance imaging (MRI) of the brain.\n \nPeople with SCD should tell their doctors or nurses if they have thinking problems, such as difficulties learning in school, slowed decision making, or trouble organizing their thoughts.\n \nPeople can be referred for cognitive testing. This testing can identify areas in which a person could use extra help.\n \nChildren with SCD who have thinking problems may qualify for an Individualized Education Program, or IEP. An IEP is a plan that helps students to reach their educational goals. Adults may be able to enroll in vocational rehabilitation programs that can help them with job training.\n \nEducation and Guidance\n \nDoctors and other providers will talk with people who have SCD and their caretakers about complications and also review information at every visit.\n \nBecause there are a lot of things to discuss, new topics are often introduced as a child or adult reaches an age when that subject is important to know about.\n \nDoctors and nurses know that there is a lot of information to learn, and they dont expect people to know everything after one discussion. People with SCD and their families should not be afraid to ask questions.\n \nTopics that are usually covered include:\n \nHours that medical staff are available and contact information to use when people with SCD or caretakers have questions\n \nA plan for what to do and where to get care if a person has a fever, pain, or other signs of SCD complications that need immediate attention\n \nHow SCD is inherited and the risk of having a child with SCD\n \nThe importance of regular medical visits, screening tests, and evaluations\n \nHow to recognize and manage pain\n \nHow to palpate (feel) a childs spleen. Because of the risk of splenic sequestration crisis, caretakers should learn how to palpate a childs spleen. They should try to feel for the spleen daily and more frequently when the child is ill. If they feel that the spleen is bigger than usual, they should call the care provider. \n \nTransitioning Care\n \nWhen children with SCD become adolescents or young adults, they often need to transition from a pediatric care team to an adult care team. This period has been shown to be associated with increased hospital admissions and medical problems. There seem to be many reasons for this.\n \nSome of the increased risk is directly related to the disease. As people with SCD get older, they often develop more organ damage and more disabilities.\n \nThe shift in care usually occurs at the same time that adolescents are undergoing many changes in their emotional, social, and academic lives. The transition to more independent self-management may be difficult, and following treatment plans may become less likely.\n \nWhen compared with pediatrics, there are often fewer adult SCD programs available in a given region. This makes it more difficult for a person with SCD to find appropriate doctors, particularly those with whom they feel comfortable.\n \nTo improve use of regular medical care by people with SCD and to reduce age-related complications, many SCD teams have developed special programs that the make transition easier. Such programs should involve the pediatric and the adult care teams. They should also start early and continue over several years.\n \nManaging Some Complications of SCD\n \nAcute Pain\n \nEach person with SCD should have a home treatment regimen that is best suited to their needs. The providers on the SCD team usually help a person develop a written, tailored care plan. If possible, the person with SCD should carry this plan with them when they go to the emergency room.\n \nWhen an acute crisis is just starting, most doctors will advise the person to drink lots of fluids and to take a non-steroidal anti-inflammatory (NSAID) pain medication, such as ibuprofen. When a person has kidney problems, acetaminophen is often preferred.\n \nIf pain persists, many people will find that they need a stronger medicine.\n \nCombining additional interventions, such as massage, relaxation methods, or a heating pad, may also help.\n \nIf a person with SCD cannot control the pain at home, he or she should go to an SCD day hospital/outpatient unit or an emergency room to receive additional, stronger medicines and intravenous (IV) fluids.\n \nSome people may be able to return home once their pain is under better control. In this case, the doctor may prescribe additional pain medicines for a short course of therapy.\n \nPeople often need to be admitted to the hospital to fully control an acute pain crisis.\n \nWhen taken daily, hydroxyurea has been found to decrease the number and severity of pain episodes.\n \nChronic Pain\n \nSometimes chronic pain results from a complication, such as a leg ulcer or aseptic necrosis of the hip. In this case, doctors try to treat the complication causing the pain.\n \nWhile chronic pain is common in adults with SCD, the cause is often poorly understood. Taking pain medicines daily may help to decrease the pain. Some examples of these medicines include:\n \nNSAID drugs, such as ibuprofen\n \nDuloxetine\n \nGabapentin\n \nAmitriptyline\n \nStrong pain medicines, such as opiates\n \nOther approaches, such as massage, heat, or acupuncture may be helpful in some cases. Chronic pain often comes with feelings of depression and anxiety. Supportive counseling and, sometimes, antidepressant medicines may help. (See coping and emotional issues.)\n \nSevere Anemia\n \nPeople should see their doctors or go to a hospital right away if they develop anemia symptoms from a splenic sequestration crisis or an aplastic crisis. These conditions can be life-threatening, and the person will need careful monitoring and treatment in the hospital. A person also usually needs a blood transfusion.\n \nPeople with SCD and symptoms of severe anemia from other causes should also see a doctor right away.\n \nInfections\n \nFever is a medical emergency in SCD. All caretakers of infants and children with SCD should take their child to their doctor or go to a hospital right away when their child has a fever. Adults with SCD should also seek care for fever or other signs of infection.\n \nAll children and adults who have SCD and a fever (over 38.50 C or 101.30 F) must be seen by a doctor and treated with antibiotics right away.\n \nSome people will need to be hospitalized, while others may receive care and follow-up as an outpatient.\n \nAcute Chest Syndrome\n \nPeople with SCD and symptoms of acute chest syndrome should see their doctor or go to a hospital right away.\n \nThey will need to be admitted to the hospital where they should receive antibiotics and close monitoring. They may need oxygen therapy and a blood transfusion.\n \nWhen taken daily, the medicine hydroxyurea has been found to decrease the number and severity of acute chest events.\n \nClinical Stroke\n \nPeople with SCD who have symptoms of stroke should be brought to the hospital right away by an ambulance. If a person is having symptoms of stroke, someone should call 9-1-1.\n \nSymptoms of stroke may include:\n \nWeakness of an arm or leg on one side of the body\n \nTrouble speaking, walking, or understanding\n \nLoss of balance\n \nSevere headache\n \nIf imaging studies reveal that the person has had an acute stroke, he or she may need an exchange transfusion. This procedure involves slowly removing an amount of the persons blood and replacing it with blood from a donor who does not have SCD or sickle cell trait. Afterward, the person may need to receive monthly transfusions or other treatments to help to prevent another stroke.\n \nSilent Stroke and Cognitive Problems\n \nChildren and adults with SCD and cognitive problems may be able to get useful help based upon the results of their testing. For instance, children may qualify for an IEP. Adults may be able to enroll in vocational, or job, training programs.\n \nPriapism\n \nSometimes, a person may be able to relieve priapism by:\n \nEmptying the bladder by urinating\n \nTaking medicine\n \nIncreasing fluid intake\n \nDoing light exercise\n \nIf a person has an episode that lasts for 4 hours or more, he should go to the hospital to see a hematologist and urologist.\n \nPregnancy\n \nPregnant women with SCD are at greater risk for problems. They should always see an obstetrician, or OB, who has experience with SCD and high-risk pregnancies and deliveries.\n \nThe obstetrician should work with a hematologist or primary medical doctor who is well informed about SCD and its complications.\n \nPregnant women with SCD need more frequent medical visits so that their doctors can follow them closely. The doctor may prescribe certain vitamins and will be careful to prescribe pain medicines that are safe for the baby.\n \nA pregnant woman with SCD may need to have one or more blood transfusions during her pregnancy to treat complications, such as worsening anemia or an increased number of pain or acute chest syndrome events.\n \nHydroxyurea\n \nWhat Is Hydroxyurea?\n \nHydroxyurea is an oral medicine that has been shown to reduce or prevent several SCD complications.\n \nThis medicine was studied in patients with SCD because it was known to increase the amount of fetal hemoglobin (hemoglobin F) in the blood. Increased hemoglobin F provides some protection against the effects of hemoglobin S.\n \nHydroxyurea was later found to have several other benefits for a person with SCD, such as decreasing inflammation.\n \nUse in adults. Many studies of adults with hemoglobin SS or hemoglobin S thalassemia showed that hydroxyurea reduced the number of episodes of pain crises and acute chest syndrome. It also improved anemia and decreased the need for transfusions and hospital admissions.\n \nUse in children. Studies in children with severe hemoglobin SS or S thalassemia showed that hydroxyurea reduced the number of vaso-occlusive crises and hospitalizations. A study of very young children (between the ages of 9 and 18 months) with hemoglobin SS or hemoglobin S thalassemia also showed that hydroxyurea decreased the number of episodes of pain and dactylitis.\n \nWho Should Use Hydroxyurea?\n \nSince hydroxyurea can decrease several complications of SCD, most experts recommend that children and adults with hemoglobin SS or S0 thalassemia who have frequent painful episodes, recurrent chest crises, or severe anemia take hydroxyurea daily.\n \nSome experts offer hydroxyurea to all infants over 9 months of age and young children with hemoglobin SS or S0 thalassemia, even if they do not have severe clinical problems, to prevent or reduce the chance of complications. There is no information about how safe or effective hydroxyurea is in children under 9 months of age.\n \nSome experts will prescribe hydroxyurea to people with other types of SCD who have severe, recurrent pain. There is little information available about how effective hydroxyurea is for these types of SCD.\n \nIn all situations, people with SCD should discuss with their doctors whether or not hydroxyurea is an appropriate medication for them.\n \nPregnant women should not use hydroxyurea.\n \nHow Is Hydroxyurea Taken?\n \nTo work properly, hydroxyurea should be taken by mouth daily at the prescribed dose. When a person does not take it regularly, it will not work as well, or it wont work at all.\n \nA person with SCD who is taking hydroxyurea needs careful monitoring. This is particularly true in the early weeks of taking the medicine. Monitoring includes regular blood testing and dose adjustments.\n \nWhat Are the Risks of Hydroxyurea?\n \nHydroxyurea can cause the bloods white cell count or platelet count to drop. In rare cases, it can worsen anemia. These side effects usually go away quickly if a person stops taking the medication. When a person restarts it, a doctor usually prescribes a lower dose.\n \nOther short-term side effects are less common.\n \nIt is still unclear whether hydroxyurea can cause problems later in life in people with SCD who take it for many years. Studies so far suggest that it does not put people at a higher risk of cancer and does not affect growth in children. But further studies are needed.\n \nRed Blood Cell Transfusions\n \nDoctors may use acute and chronic red blood cell transfusions to treat and prevent certain SCD complications. The red blood cells in a transfusion have normal hemoglobin in them.\n \nA transfusion helps to raise the number of red blood cells and provides normal red blood cells that are more flexible than red blood cells with sickle hemoglobin. These cells live longer in the circulation. Red blood cell transfusions decrease vaso-occlusion (blockage in the blood vessel) and improve oxygen delivery to the tissues and organs.\n \nAcute Transfusion in SCD\n \nDoctors use blood transfusions in SCD for complications that cause severe anemia. They may also use them when a person has an acute stroke, in many cases of acute chest crises, and in multi-organ failure.\n \nA person with SCD usually receives blood transfusions before surgery to prevent SCD-related complications afterwards.\n \nChronic Transfusion\n \nDoctors recommend regular or ongoing blood transfusions for people who have had an acute stroke, since transfusions decrease the chances of having another stroke.\n \nDoctors also recommend chronic blood transfusions for children who have abnormal TCD ultrasound results because transfusions can reduce the chance of having a first stroke.\n \nSome doctors use this approach to treat complications that do not improve with hydroxyurea. They may also use transfusions in people who have too many side effects from hydroxyurea.\n \nWhat Are the Risks of Transfusion Therapy?\n \nPossible complications include:\n \nHemolysis\n \nIron overload, particularly in people receiving chronic transfusions (can severely impair heart and lung function)\n \nInfection\n \nAlloimmunization (can make it hard to find a matching unit of blood for a future transfusion)\n \nAll blood banks and hospital personnel have adopted practices to reduce the risk of transfusion problems.\n \nPeople with SCD who receive transfusions should be monitored for and immunized against hepatitis. They should also receive regular screenings for iron overload. If a person has iron overload, the doctor will give chelation therapy, a medicine to reduce the amount of iron in the body and the problems that iron overload causes.\n \n\n \nHematopoietic Stem Cell Transplantation\n \nAt the present time, hematopoietic stem cell transplantation (HSCT) is the only cure for SCD. People with SCD and their families should ask their doctor about this procedure.\n \nWhat Are Stem Cells?\n \nStem cells are special cells that can divide over and over again. After they divide, these cells can go on to become blood red cells, white cells, or platelets.\n \nA person with SCD has stem cells that make red blood cells that can sickle. People without SCD have stem cells that make red cells that usually wont sickle.\n \nWhat Stem Cells Are Used in HSCT?\n \nIn HSCT, stem cells are taken from the bone marrow or blood of a person who does not have sickle cell disease (the donor). The donor, however, may have sickle cell trait.\n \nThe donor is often the persons sister or brother. This is because the safest and most successful transplants use stem cells that are matched for special proteins called HLA antigens. Since these antigens are inherited from parents, a sister or brother is the most likely person to have the same antigens as the person with SCD.\n \nWhat Happens During HSCT?\n \nFirst, stem cells are taken from the donor. After this, the person with SCD (the recipient) is treated with drugs that destroy or reduce his or her own bone marrow stem cells.\n \nThe donor stem cells are then injected into the persons vein. The injected cells will make a home in the recipients bone marrow, gradually replacing the recipients cells. The new stem cells will make red cells that do not sickle.\n \nWhich People Receive HSCT?\n \nAt the present time, most SCD transplants are performed in children who have had complications such as strokes, acute chest crises, and recurring pain crises. These transplants usually use a matched donor.\n \nBecause only about 1 in 10 children with SCD has a matched donor without SCD in their families, the number of people with SCD who get transplants is low.\n \nHSCT is more risky in adults, and that is why most transplants are done in children.\n \nThere are several medical centers that are researching new SCD HSCT techniques in children and adults who dont have a matched donor in the family or are older than most recipients. Hopefully, more people with SCD will be able to receive a transplant in the future, using these new methods.\n \nWhat Are the Risks?\n \nHSCT is successful in about 85 percent of children when the donor is related and HLA matched. Even with this high success rate, HSCT still has risks.\n \nComplications can include severe infections, seizures, and other clinical problems. About 5 percent of people have died. Sometimes transplanted cells attack the recipients organs (graft versus host disease).\n \nMedicines are given to prevent many of the complications, but they still can happen.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to deafness-dystonia-optic neuronopathy syndrome ?"}, {"role": "assistant", "content": "Mutations in the TIMM8A gene cause DDON syndrome. The protein produced from this gene is found inside the energy-producing centers of cells (mitochondria). The TIMM8A protein forms a complex (a group of proteins that work together) with a very similar protein called TIMM13. This complex functions by transporting other proteins within the mitochondria. Most mutations in the TIMM8A gene result in the absence of functional TIMM8A protein inside the mitochondria, which prevents the formation of the TIMM8A/TIMM13 complex. Researchers believe that the lack of this complex leads to abnormal protein transport, although it is unclear how abnormal protein transport affects the function of the mitochondria and causes the signs and symptoms of DDON syndrome.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Hereditary leiomyomatosis and renal cell cancer ?"}, {"role": "assistant", "content": "Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a condition that causes benign tumors of smooth muscle tissue in the skin (cutaneous leiomyomas) and in the uterus in females (uterine leiomyomas, or fibroids). The condition also increases the risk of kidney cancer. Signs and symptoms usually begin in adulthood as skin growths appear on the torso, arms, legs, and occasionally on the face. They tend to increase in size and number over time. About 10% to 16% of people with HLRCC develop a type of kidney cancer called renal cell cancer; symptoms of this cancer may include lower back pain, blood in the urine, and/or a mass in the kidney that can be felt by a physician. Some people have no symptoms until the cancer is advanced. HLRCC is caused by mutations in the FH gene and is inherited in an autosomal dominant manner.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to prevent Parasites - Lice - Head Lice ?"}, {"role": "assistant", "content": "Head lice are spread most commonly by direct head-to-head (hair-to-hair) contact. However, much less frequently they are spread by sharing clothing or belongings onto which lice have crawled or nits attached to shed hairs may have fallen. The risk of getting infested by a louse that has fallen onto a carpet or furniture is very small. Head lice survive less than 1\u20132 days if they fall off a person and cannot feed; nits cannot hatch and usually die within a week if they are not kept at the same temperature as that found close to the scalp.\n \nThe following are steps that can be taken to help prevent and control the spread of head lice:\n \n - Avoid head-to-head (hair-to-hair) contact during play and other activities at home, school, and elsewhere (sports activities, playground, slumber parties, camp).\n - Do not share clothing such as hats, scarves, coats, sports uniforms, hair ribbons, or barrettes.\n - Do not share combs, brushes, or towels. Disinfest combs and brushes used by an infested person by soaking them in hot water (at least 130\u00b0F) for 5\u201310 minutes.\n - Do not lie on beds, couches, pillows, carpets, or stuffed animals that have recently been in contact with an infested person.\n - Machine wash and dry clothing, bed linens, and other items that an infested person wore or used during the 2 days before treatment using the hot water (130\u00b0F) laundry cycle and the high heat drying cycle. Clothing and items that are not washable can be dry-cleaned OR sealed in a plastic bag and stored for 2 weeks.\n - Vacuum the floor and furniture, particularly where the infested person sat or lay. However, spending much time and money on housecleaning activities is not necessary to avoid reinfestation by lice or nits that may have fallen off the head or crawled onto furniture or clothing.\n - Do not use fumigant sprays or fogs; they are not necessary to control head lice and can be toxic if inhaled or absorbed through the skin.\n \n \nTo help control a head lice outbreak in a community, school, or camp, children can be taught to avoid activities that may spread head lice.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to 5-alpha reductase deficiency ?"}, {"role": "assistant", "content": "Mutations in the SRD5A2 gene cause 5-alpha reductase deficiency. The SRD5A2 gene provides instructions for making an enzyme called steroid 5-alpha reductase 2. This enzyme is involved in processing androgens, which are hormones that direct male sexual development. Specifically, the enzyme is responsible for a chemical reaction that converts the hormone testosterone to DHT. DHT is essential for the normal development of male sex characteristics before birth, particularly the formation of the external genitalia. Mutations in the SRD5A2 gene prevent steroid 5-alpha reductase 2 from effectively converting testosterone to DHT in the developing reproductive tissues. These hormonal factors underlie the changes in sexual development seen in infants with 5-alpha reductase deficiency. During puberty, the testes produce more testosterone. Researchers believe that people with 5-alpha reductase deficiency develop secondary male sex characteristics in response to higher levels of this hormone. Some affected people also retain a small amount of 5-alpha reductase 2 activity, which may produce DHT and contribute to the development of secondary sex characteristics during puberty.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Hallermann-Streiff syndrome ?"}, {"role": "assistant", "content": "What causes Hallermann-Streiff syndrome? The genetic cause of Hallerman-Streiff syndrome has not been identified. It reportedly typically occurs randomly for unknown reasons (sporadically), most likely due to a new spontaneous (de novo) mutation in the affected individual.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Pierson syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Pierson syndrome? The features and severity of Pierson syndrome can vary among affected people. Affected infants are usually born with serious and progressive kidney disease due to congenital nephrotic syndrome, although some do not have kidney failure until adulthood. Most require a renal transplant for end-stage kidney disease within the first decade of life. Ocular (eye) abnormalities are another common feature of Pierson syndrome. Most affected infants are born with abnormally small pupils (microcoria). Other ocular abnormalities may include cataracts, glaucoma, retinal detachments, and blindness. Those that survive past infancy typically have neurological disabilities and developmental delays. Many children with Pierson syndrome don't achieve normal milestones such as sitting, standing, and talking. The Human Phenotype Ontology provides the following list of signs and symptoms for Pierson syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of movement 90% Cataract 90% EEG abnormality 90% Hematuria 90% Hemiplegia/hemiparesis 90% Hypertension 90% Muscular hypotonia 90% Nephrotic syndrome 90% Nystagmus 90% Proteinuria 90% Hypoplasia of penis 50% Areflexia - Autosomal recessive inheritance - Blindness - Diffuse mesangial sclerosis - Edema - Hypoplasia of the ciliary body - Hypoplasia of the iris - Hypoproteinemia - Neonatal onset - Posterior lenticonus - Stage 5 chronic kidney disease - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Do you have information about Pain Relievers"}, {"role": "assistant", "content": "Summary : Pain relievers are medicines that reduce or relieve headaches, sore muscles, arthritis, or other aches and pains. There are many different pain medicines, and each one has advantages and risks. Some types of pain respond better to certain medicines than others. Each person may also have a slightly different response to a pain reliever. Over-the-counter (OTC) medicines are good for many types of pain. There are two main types of OTC pain medicines: acetaminophen (Tylenol) and nonsteroidal anti-inflammatory drugs (NSAIDs). Aspirin, naproxen (Aleve), and ibuprofen (Advil, Motrin) are examples of OTC NSAIDs. If OTC medicines don't relieve your pain, your doctor may prescribe something stronger. Many NSAIDs are also available at higher prescription doses. The most powerful pain relievers are narcotics. They are very effective, but they can sometimes have serious side effects. Because of the risks, you must use them only under a doctor's supervision. There are many things you can do to help ease pain. Pain relievers are just one part of a pain treatment plan.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Alport syndrome ?"}, {"role": "assistant", "content": "What causes Alport syndrome? Alport syndrome may be caused by mutations in either the COL4A3, COL4A4, or COL4A5 genes. These genes each provide instructions for making one component of a protein called type IV collagen, which plays an important role in the glomeruli of the kidneys. Glomeruli are clusters of specialized blood vessels that remove water and waste products from the blood and create urine. Mutations in the genes mentioned above result in abnormalities of the type IV collagen in glomeruli, which prevents the kidneys from properly filtering the blood. As a result, blood and protein pass into the urine. Over time, the kidneys become scarred and many people with Alport syndrome develop kidney failure. Type IV collagen is also an important component of the organ of Corti, an inner ear structure that transforms sound waves into nerve impulses for the brain. Alterations in type IV collagen may result in abnormal inner ear function, which can lead to hearing loss. In addition, type IV collagen plays a role in the eye, where it helps maintain the shape of the lens and the normal color of the retina. Mutations found in Alport syndrome may affect the shape of the lenses and the color of the retina.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by fibrodysplasia ossificans progressiva ?"}, {"role": "assistant", "content": "Fibrodysplasia ossificans progressiva is a very rare disorder, believed to occur in approximately 1 in 2 million people worldwide. Several hundred cases have been reported.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Dry Mouth ?"}, {"role": "assistant", "content": "Dry mouth is the feeling that there is not enough saliva in the mouth. Everyone has dry mouth once in a while -- if they are nervous, upset, under stress, or taking certain medications. But if you have dry mouth all or most of the time, see a dentist or physician. Many older adults have dry mouth, but it is not a normal part of aging. (Watch the video to learn more about dry mouth. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.) Why Saliva is Important Saliva does more than keep your mouth wet. It protects teeth from decay, helps heal sores in your mouth, and prevents infection by controlling bacteria, viruses, and fungi in the mouth. Saliva helps digest food and helps us chew and swallow. Saliva is involved in taste perception as well. Each of these functions of saliva is hampered when a person has dry mouth. How Dry Mouth Feels Dry mouth can be uncomfortable. Some people notice a sticky, dry feeling in the mouth. Others notice a burning feeling or difficulty while eating. The throat may feel dry, too, making swallowing difficult and choking common. Also, people with dry mouth may get mouth sores, cracked lips, and a dry, rough tongue.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Traumatic Brain Injury ?"}, {"role": "assistant", "content": "Traumatic brain injury (TBI) happens when a bump, blow, jolt, or other head injury causes damage to the brain. Every year, millions of people in the U.S. suffer brain injuries. More than half are bad enough that people must go to the hospital. The worst injuries can lead to permanent brain damage or death. Half of all TBIs are from motor vehicle accidents. Military personnel in combat zones are also at risk. Symptoms of a TBI may not appear until days or weeks following the injury. A concussion is the mildest type. It can cause a headache or neck pain, nausea, ringing in the ears, dizziness, and tiredness. People with a moderate or severe TBI may have those, plus other symptoms: - A headache that gets worse or does not go away - Repeated vomiting or nausea - Convulsions or seizures - Inability to awaken from sleep - Slurred speech - Weakness or numbness in the arms and legs - Dilated eye pupils Health care professionals use a neurological exam and imaging tests to assess TBI. Serious traumatic brain injuries need emergency treatment. Treatment and outcome depend on how severe the injury is. TBI can cause a wide range of changes affecting thinking, sensation, language, or emotions. TBI can be associated with post-traumatic stress disorder. People with severe injuries usually need rehabilitation. NIH: National Institute of Neurological Disorders and Stroke", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Cockayne syndrome ?"}, {"role": "assistant", "content": "Cockayne syndrome is a rare condition which causes short stature, premature aging (progeria), severe photosensitivity, and moderate to severe learning delay. This syndrome also includes failure to thrive in the newborn, microcephaly, and impaired nervous system development. Other symptoms may include hearing loss, tooth decay, and eye and bone abnormalities. Cockayne syndrome type 1 (type A) is sometimes called classic or \"moderate\" Cockayne syndrome and is diagnosed during early childhood. Cockayne syndrome type 2 (type B) is sometimes referred to as the severe or \"early-onset\" type. This more severe form presents with growth and developmental abnormalities at birth. The third type, Cockayne syndrome type 3 (type C) is a milder form of the disorder. Cockayne syndrome is caused by mutations in either the ERCC8 (CSA) or ERCC6 (CSB) genes and is inherited in an autosomal recessive pattern. The typical lifespan for individuals with Cockayne syndrome type 1 is ten to twenty years. Individuals with type 2 usually do not survive past childhood. Those with type 3 live into middle adulthood.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to uromodulin-associated kidney disease ?"}, {"role": "assistant", "content": "Mutations in the UMOD gene cause uromodulin-associated kidney disease. This gene provides instructions for making the uromodulin protein, which is produced by the kidneys and then excreted from the body in urine. The function of uromodulin remains unclear, although it is known to be the most abundant protein in the urine of healthy individuals. Researchers have suggested that uromodulin may protect against urinary tract infections. It may also help control the amount of water in urine. Most mutations in the UMOD gene change single protein building blocks (amino acids) used to make uromodulin. These mutations alter the structure of the protein, preventing its release from kidney cells. Abnormal buildup of uromodulin may trigger the self-destruction (apoptosis) of cells in the kidneys, causing progressive kidney disease.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "what research (or clinical trials) is being done for Neurotoxicity ?"}, {"role": "assistant", "content": "The NINDS supports research on disorders of the brain and nervous system such as neurotoxicity, aimed at learning more about these disorders and finding ways to prevent and treat them. Scientists are investigating the role occupational or environmental toxicants have on progressive neurodegenerative disorders such as Parkinson's disease, amyotrophic lateral sclerosis, multiple sclerosis, and dementia. Also being studied are the mechanisms that trigger neuroimmune responses in the central nervous system and the possibility that some brain disorders in children may occur when environmental triggers interact with genes.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by sudden infant death with dysgenesis of the testes syndrome ?"}, {"role": "assistant", "content": "SIDDT has been diagnosed in more than 20 infants from a single Old Order Amish community in Pennsylvania. The condition has not been reported outside this community.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is hereditary hemochromatosis inherited ?"}, {"role": "assistant", "content": "Types 1, 2, and 3 hemochromatosis are inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene but do not show signs and symptoms of the condition. Type 4 hemochromatosis is distinguished by its autosomal dominant inheritance pattern. With this type of inheritance, one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Who is at risk for Lip and Oral Cavity Cancer? ?"}, {"role": "assistant", "content": "Tobacco and alcohol use can affect the risk of lip and oral cavity cancer. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. Talk with your doctor if you think you may be at risk. Risk factors for lip and oral cavity cancer include the following: - Using tobacco products. - Heavy alcohol use. - Being exposed to natural sunlight or artificial sunlight (such as from tanning beds) over long periods of time. - Being male.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Cornelia de Lange syndrome ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of Cornelia de Lange syndrome: - Gene Review: Gene Review: Cornelia de Lange Syndrome - Genetic Testing Registry: De Lange syndrome - MedlinePlus Encyclopedia: Autism - MedlinePlus Encyclopedia: Microcephaly These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Emanuel syndrome ?"}, {"role": "assistant", "content": "Emanuel syndrome is a chromosome disorder that causes problems with physical and intellectual development. Signs and symptoms can vary but may include severe intellectual disability; small head size (microcephaly); failure to thrive; cleft palate or high-arched palate; small jaw (micrognathia); congenital heart defects; and abnormalities of the ears, kidneys, and/or male genitals. It is caused by having extra material from chromosomes 11 and 22 in each cell. Almost all people with Emanuel syndrome inherit the extra chromosome material from an unaffected parent with a balanced translocation. Treatment focuses on the specific signs and symptoms in each person.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Urinary Incontinence ?"}, {"role": "assistant", "content": "The first step in treating urinary incontinence is to see a health care provider. He or she will give you a physical exam and take your medical history. The provider will ask about your symptoms and the medicines you use. He or she will want to know if you have been sick recently or have had surgery. Your provider also may do a number of tests. These might include - urine tests - tests that measure how well you empty your bladderusually by ultrasound. urine tests tests that measure how well you empty your bladderusually by ultrasound. In addition, your health care provider may ask you to keep a daily diary of when you urinate and when you leak urine. Your family provider may also send you to a urologist or urogynecologist, doctors who specialize in urinary tract problems Get tips on choosing a health care provider. (Watch the video above to learn more about what to expect when seeking care for a bladder problem. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.)", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) tyrosine hydroxylase deficiency ?"}, {"role": "assistant", "content": "Tyrosine hydroxylase (TH) deficiency is a disorder that primarily affects movement, with symptoms that may range from mild to severe. The mild form of this disorder is called TH-deficient dopa-responsive dystonia (DRD). Symptoms usually appear during childhood. Affected individuals may exhibit unusual limb positioning and a lack of coordination when walking or running. In some cases, people with TH-deficient DRD have additional movement problems such as shaking when holding a position (postural tremor) or involuntary upward-rolling movements of the eyes. The movement difficulties may slowly increase with age but almost always get better with medical treatment. The severe forms of TH deficiency are called infantile parkinsonism and progressive infantile encephalopathy. These forms of the disorder appear soon after birth and are more difficult to treat effectively. Babies with infantile parkinsonism have delayed development of motor skills such as sitting unsupported or reaching for a toy. They may have stiff muscles, especially in the arms and legs; unusual body positioning; droopy eyelids (ptosis); and involuntary upward-rolling eye movements. The autonomic nervous system, which controls involuntary body functions, may also be affected. Resulting signs and symptoms can include constipation, backflow of stomach acids into the esophagus (gastroesophageal reflux), and difficulty regulating blood sugar, body temperature, and blood pressure. People with the infantile parkinsonism form of the disorder may have intellectual disability, speech problems, attention deficit disorder, and psychiatric conditions such as depression, anxiety, or obsessive-compulsive behaviors. Progressive infantile encephalopathy is an uncommon severe form of TH deficiency. It is characterized by brain dysfunction and structural abnormalities leading to profound physical and intellectual disability.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is the outlook for Inflammatory Myopathies ?"}, {"role": "assistant", "content": "Most cases of dermatomyositis respond to therapy. The prognosis for polymyositis varies. Most individuals respond fairly well to therapy, but some people have a more severe disease that does not respond adequately to therapies and are left with significant disability. IBM is generally resistant to all therapies and its rate of progression appears to be unaffected by currently available treatments.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) microcephalic osteodysplastic primordial dwarfism type II ?"}, {"role": "assistant", "content": "Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is a condition characterized by short stature (dwarfism) with other skeletal abnormalities (osteodysplasia) and an unusually small head size (microcephaly). The growth problems in MOPDII are primordial, meaning they begin before birth, with affected individuals showing slow prenatal growth (intrauterine growth retardation). After birth, affected individuals continue to grow at a very slow rate. The final adult height of people with this condition ranges from 20 inches to 40 inches. Other skeletal abnormalities in MOPDII include abnormal development of the hip joints (hip dysplasia), thinning of the bones in the arms and legs, an abnormal side-to-side curvature of the spine (scoliosis), and shortened wrist bones. In people with MOPDII head growth slows over time; affected individuals have an adult brain size comparable to that of a 3-month-old infant. However, intellectual development is typically normal. People with this condition typically have a high-pitched, nasal voice that results from a narrowing of the voicebox (subglottic stenosis). Facial features characteristic of MOPDII include a prominent nose, full cheeks, a long midface, and a small jaw. Other signs and symptoms seen in some people with MOPDII include small teeth (microdontia) and farsightedness. Over time, affected individuals may develop areas of abnormally light or dark skin coloring (pigmentation). Many individuals with MOPDII have blood vessel abnormalities. For example, some affected individuals develop a bulge in one of the blood vessels at the center of the brain (intracranial aneurysm). These aneurysms are dangerous because they can burst, causing bleeding within the brain. Some affected individuals have Moyamoya disease, in which arteries at the base of the brain are narrowed, leading to restricted blood flow. These vascular abnormalities are often treatable, though they increase the risk of stroke and reduce the life expectancy of affected individuals.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) glutathione synthetase deficiency ?"}, {"role": "assistant", "content": "Glutathione synthetase deficiency is a disorder that prevents the production of an important molecule called glutathione. Glutathione helps prevent damage to cells by neutralizing harmful molecules generated during energy production. Glutathione also plays a role in processing medications and cancer-causing compounds (carcinogens), and building DNA, proteins, and other important cellular components. Glutathione synthetase deficiency can be classified into three types: mild, moderate, and severe. Mild glutathione synthetase deficiency usually results in the destruction of red blood cells (hemolytic anemia). In addition, affected individuals may release large amounts of a compound called 5-oxoproline in their urine (5-oxoprolinuria). This compound builds up when glutathione is not processed correctly in cells. Individuals with moderate glutathione synthetase deficiency may experience symptoms beginning shortly after birth including hemolytic anemia, 5-oxoprolinuria, and elevated acidity in the blood and tissues (metabolic acidosis). In addition to the features present in moderate glutathione synthetase deficiency, individuals affected by the severe form of this disorder may experience neurological symptoms. These problems may include seizures; a generalized slowing down of physical reactions, movements, and speech (psychomotor retardation); intellectual disability; and a loss of coordination (ataxia). Some people with severe glutathione synthetase deficiency also develop recurrent bacterial infections.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Esthesioneuroblastoma ?"}, {"role": "assistant", "content": "What symptoms are associated with esthesioneuroblastoma? Symptoms of esthesioneuroblastoma may include one or more of the following: Nasal obstruction Loss of smell Chronic sinus infections (sinusitis) Nasal bleeding Sinus pain and headache Visual changes", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Arts syndrome ?"}, {"role": "assistant", "content": "Arts syndrome is characterized by sensorineural hearing loss and serious neurological and immune system problems in males. Females can also be affected by this condition, but they typically have much milder symptoms. Arts syndrome is caused by mutations in the PRPS1 gene which is located on the X chromosome. It is inherited in an X-linked recessive manner.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Childhood Ependymoma ?"}, {"role": "assistant", "content": "Key Points\n - Childhood ependymoma is a disease in which malignant (cancer) cells form in the tissues of the brain and spinal cord. - There are different types of ependymomas. - The part of the brain that is affected depends on where the ependymoma forms. - The cause of most childhood brain tumors is unknown. - The signs and symptoms of childhood ependymoma are not the same in every child. - Tests that examine the brain and spinal cord are used to detect (find) childhood ependymoma. - Childhood ependymoma is diagnosed and removed in surgery. - Certain factors affect prognosis (chance of recovery) and treatment options.\n \n \n Childhood ependymoma is a disease in which malignant (cancer) cells form in the tissues of the brain and spinal cord.\n The brain controls vital functions such as memory and learning, emotion, and the senses (hearing, sight, smell, taste, and touch). The spinal cord is made up of bundles of nerve fibers that connect the brain with nerves in most parts of the body. Ependymomas form from ependymal cells that line the ventricles and passageways in the brain and the spinal cord. Ependymal cells make cerebrospinal fluid (CSF). This summary is about the treatment of primary brain tumors (tumors that begin in the brain). Treatment of metastatic brain tumors, which are tumors that begin in other parts of the body and spread to the brain, is not discussed in this summary. There are many different types of brain tumors. Brain tumors can occur in both children and adults. However, treatment for children is different than treatment for adults. See the following PDQ summaries for more information: - Childhood Brain and Spinal Cord Tumors Treatment Overview - Adult Central Nervous System Tumors Treatment\n \n \n There are different types of ependymomas.\n The World Health Organization (WHO) groups ependymal tumors into five main subtypes: - Subependymoma (WHO Grade I). - Myxopapillary ependymoma (WHO Grade I). - Ependymoma (WHO Grade II). - RELA fusionpositive ependymoma (WHO Grade II or Grade III with change in the RELA gene). - Anaplastic ependymoma (WHO Grade III). The grade of a tumor describes how abnormal the cancer cells look under a microscope and how quickly the tumor is likely to grow and spread. Low-grade (Grade I) cancer cells look more like normal cells than high-grade cancer cells (Grade II and III). They also tend to grow and spread more slowly than Grade II and III cancer cells.\n \n \n The part of the brain that is affected depends on where the ependymoma forms.\n Ependymomas can form anywhere in the fluid -filled ventricles and passageways in the brain and spinal cord. Most ependymomas form in the fourth ventricle and affect the cerebellum and the brain stem. Once an ependymoma forms, areas of the brain that may be affected include: - Cerebrum: The largest part of the brain, at the top of the head. The cerebrum controls thinking, learning, problem-solving, speech, emotions, reading, writing, and voluntary movement. - Cerebellum: The lower, back part of the brain (near the middle of the back of the head). The cerebellum controls movement, balance, and posture. - Brain stem: The part that connects the brain to the spinal cord, in the lowest part of the brain (just above the back of the neck). The brain stem controls breathing, heart rate, and the nerves and muscles used in seeing, hearing, walking, talking, and eating. - Spinal cord: The column of nerve tissue that runs from the brain stem down the center of the back. It is covered by three thin layers of tissue called membranes. The spinal cord and membranes are surrounded by the vertebrae (back bones). Spinal cord nerves carry messages between the brain and the rest of the body, such as a message from the brain to cause muscles to move or a message from the skin to the brain to feel touch.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to hereditary antithrombin deficiency ?"}, {"role": "assistant", "content": "Hereditary antithrombin deficiency is caused by mutations in the SERPINC1 gene. This gene provides instructions for producing a protein called antithrombin (previously known as antithrombin III). This protein is found in the bloodstream and is important for controlling blood clotting. Antithrombin blocks the activity of proteins that promote blood clotting, especially a protein called thrombin. Most of the mutations that cause hereditary antithrombin deficiency change single protein building blocks (amino acids) in antithrombin, which disrupts its ability to control blood clotting. Individuals with this condition do not have enough functional antithrombin to inactivate clotting proteins, which results in the increased risk of developing abnormal blood clots.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for inclusion body myopathy with early-onset Paget disease and frontotemporal dementia ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of IBMPFD: - Gene Review: Gene Review: Inclusion Body Myopathy with Paget Disease of Bone and/or Frontotemporal Dementia - Genetic Testing Registry: Inclusion body myopathy with early-onset paget disease and frontotemporal dementia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction? The Human Phenotype Ontology provides the following list of signs and symptoms for Cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anal atresia - Autoimmune thrombocytopenia - Autosomal recessive inheritance - Cervical ribs - Hypertrophy of the urinary bladder - Omphalocele - Preaxial hand polydactyly - Prune belly - Renal dysplasia - Renal hypoplasia - Sprengel anomaly - Talipes equinovarus - Thoracolumbar scoliosis - Urethral obstruction - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose AIDS-Related Lymphoma ?"}, {"role": "assistant", "content": "Tests that examine the lymph system and other parts of the body are used to help detect (find) and diagnose AIDS-related lymphoma. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken. - Complete blood count (CBC): A procedure in which a sample of blood is drawn and checked for the following: - The number of red blood cells, white blood cells, and platelets. - The amount of hemoglobin (the protein that carries oxygen) in the red blood cells. - The portion of the sample made up of red blood cells. - HIV test : A test to measure the level of HIV antibodies in a sample of blood. Antibodies are made by the body when it is invaded by a foreign substance. A high level of HIV antibodies may mean the body has been infected with HIV. - Lymph node biopsy : The removal of all or part of a lymph node. A pathologist views the tissue under a microscope to look for cancer cells. One of the following types of biopsies may be done: - Excisional biopsy : The removal of an entire lymph node. - Incisional biopsy : The removal of part of a lymph node. - Core biopsy : The removal of tissue from a lymph node using a wide needle. - Fine-needle aspiration (FNA) biopsy : The removal of tissue from a lymph node using a thin needle. - Bone marrow aspiration and biopsy : The removal of bone marrow and a small piece of bone by inserting a hollow needle into the hipbone or breastbone. A pathologist views the bone marrow and bone under a microscope to look for signs of cancer. - Chest x-ray : An x-ray of the organs and bones inside the chest. An x-ray is a type of energy beam that can go through the body and onto film, making a picture of areas inside the body.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Cat scratch disease ?"}, {"role": "assistant", "content": "What are the symptoms of cat scratch disease? Most people with cat scratch disease have been bitten or scratched by a cat and developed a mild infection at the point of injury. Lymph nodes, especially those around the head, neck, and upper limbs, become swollen. Additionally, a person with cat scratch disease may experience fever, headache, fatigue, achiness and discomfort (malaise), sore throat, enlarged spleen, and/or loss of appetite.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "what research (or clinical trials) is being done for Problems with Smell ?"}, {"role": "assistant", "content": "The National Institute on Deafness and Other Communication Disorders (NIDCD) supports basic and clinical investigations of smell and taste disorders at its laboratories in Bethesda, Md. and at universities and chemosensory research centers across the country. These chemosensory scientists are exploring how to - promote the regeneration of sensory nerve cells - understand the effects of the environment (such as gasoline fumes, chemicals, and extremes of humidity and temperature) on smell and taste - prevent the effects of aging on smell and taste - develop new diagnostic tests for taste and smell disorders - understand associations between smell disorders and changes in diet and food preferences in the elderly or among people with chronic illnesses. promote the regeneration of sensory nerve cells understand the effects of the environment (such as gasoline fumes, chemicals, and extremes of humidity and temperature) on smell and taste prevent the effects of aging on smell and taste develop new diagnostic tests for taste and smell disorders understand associations between smell disorders and changes in diet and food preferences in the elderly or among people with chronic illnesses.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Mitochondrial complex II deficiency ?"}, {"role": "assistant", "content": "How might mitochondrial complex II deficiency be treated? Treatment options for complex II deficiency may be similar to those for other mitochondrial disorders in general.[8677] The United Mitochondrial Disease Foundation (UMDF) provides detailed information on treatment through their Web site at: http://www.umdf.org/site/pp.aspx?c=8qKOJ0MvF7LUG&b=7934635 We strongly recommend that you discuss this information with a healthcare provider.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to mucolipidosis type IV ?"}, {"role": "assistant", "content": "Mutations in the MCOLN1 gene cause mucolipidosis type IV. This gene provides instructions for making a protein called mucolipin-1. This protein is located in the membranes of lysosomes and endosomes, compartments within the cell that digest and recycle materials. While its function is not completely understood, mucolipin-1 plays a role in the transport (trafficking) of fats (lipids) and proteins between lysosomes and endosomes. Mucolipin-1 appears to be important for the development and maintenance of the brain and retina. In addition, this protein is likely critical for normal functioning of the cells in the stomach that produce digestive acids. Most mutations in the MCOLN1 gene result in the production of a nonfunctional protein or prevent any protein from being produced. A lack of functional mucolipin-1 impairs transport of lipids and proteins, causing these substances to build up inside lysosomes. Conditions that cause molecules to accumulate inside the lysosomes, including mucolipidosis type IV, are called lysosomal storage disorders. Two mutations in the MCOLN1 gene account for almost all cases of mucolipidosis type IV in people with Ashkenazi Jewish ancestry. It remains unclear how mutations in this gene lead to the signs and symptoms of mucolipidosis type IV.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "what research (or clinical trials) is being done for Hereditary Neuropathies ?"}, {"role": "assistant", "content": "The NINDS supports research on neuromuscular disorders, such as hereditary neuropathies, aimed at learning more about these disorders and finding ways to prevent and treat them.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Tourette Syndrome ?"}, {"role": "assistant", "content": "If you have Tourette syndrome, you make unusual movements or sounds, called tics. You have little or no control over them. Common tics are throat-clearing and blinking. You may repeat words, spin, or, rarely, blurt out swear words. Tourette syndrome is a disorder of the nervous system. It often occurs with other problems, such as - Attention deficit hyperactivity disorder (ADHD) - Obsessive-compulsive disorder (OCD) - Anxiety - Depression The cause of Tourette syndrome is unknown. It is more common in boys than girls. The tics usually start in childhood and may be worst in the early teens. Many people eventually outgrow them. No treatment is needed unless the tics interfere with everyday life. Excitement or worry can make tics worse. Calm, focused activities may make them better. Medicines and talk therapy may also help. NIH: National Institute of Neurological Disorders and Stroke", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Moebius syndrome ?"}, {"role": "assistant", "content": "Moebius syndrome is a rare neurological condition that primarily affects the muscles that control facial expression and eye movement. The signs and symptoms of this condition are present from birth. Weakness or paralysis of the facial muscles is one of the most common features of Moebius syndrome. Affected individuals lack facial expressions; they cannot smile, frown, or raise their eyebrows. The muscle weakness also causes problems with feeding that become apparent in early infancy. Many people with Moebius syndrome are born with a small chin (micrognathia) and a small mouth (microstomia) with a short or unusually shaped tongue. The roof of the mouth may have an abnormal opening (cleft palate) or be high and arched. These abnormalities contribute to problems with speech, which occur in many children with Moebius syndrome. Dental abnormalities, including missing and misaligned teeth, are also common. Moebius syndrome also affects muscles that control back-and-forth eye movement. Affected individuals must move their head from side to side to read or follow the movement of objects. People with this disorder have difficulty making eye contact, and their eyes may not look in the same direction (strabismus). Additionally, the eyelids may not close completely when blinking or sleeping, which can result in dry or irritated eyes. Other features of Moebius syndrome can include bone abnormalities in the hands and feet, weak muscle tone (hypotonia), and hearing loss. Affected children often experience delayed development of motor skills (such as crawling and walking), although most eventually acquire these skills. Some research studies have suggested that children with Moebius syndrome are more likely than unaffected children to have characteristics of autism spectrum disorders, which are a group of conditions characterized by impaired communication and social interaction. However, recent studies have questioned this association. Because people with Moebius syndrome have difficulty with eye contact and speech due to their physical differences, autism spectrum disorders can be difficult to diagnose in these individuals. Moebius syndrome may also be associated with a somewhat increased risk of intellectual disability; however, most affected individuals have normal intelligence.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Parasites - American Trypanosomiasis (also known as Chagas Disease) ?"}, {"role": "assistant", "content": "Treatment for Chagas disease is recommended for all people diagnosed with an acute infection, congenital infection, and for those with suppressed immune systems, and for all children with chronic infection. Adults with chronic infection may also benefit from treatment.\n \nFor cardiac or gastrointestinal problems resulting from Chagas disease, symptomatic treatment may be helpful. Patients should consult with their primary health care provider. Some patients may be referred to a specialist, such as a cardiologist, gastroenterologist, or infectious disease specialist.\n \nIn the U.S., medication for Chagas is available only through CDC. Your health care provider can talk with CDC staff about whether and how you should be treated.\n \nMore on: Resources for Health Professionals: Antiparasitic Treatment", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Parkinson disease type 9 ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Parkinson disease type 9? The Human Phenotype Ontology provides the following list of signs and symptoms for Parkinson disease type 9. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Distal sensory impairment 5% Seizures 5% Aggressive behavior - Akinesia - Anarthria - Anosmia - Autosomal recessive inheritance - Babinski sign - Dementia - Hallucinations - Hyperreflexia - Hypokinesia - Hyposmia - Mask-like facies - Myoclonus - Paraparesis - Parkinsonism - Parkinsonism with favorable response to dopaminergic medication - Postural instability - Psychotic episodes - Rapidly progressive - Rigidity - Slow saccadic eye movements - Spasticity - Supranuclear gaze palsy - Torticollis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Moebius syndrome inherited ?"}, {"role": "assistant", "content": "Is Moebius syndrome inherited? Most cases of Moebius syndrome are not inherited and occur as isolated cases in individuals with no history of the condition in their family (sporadically). A small percentage of cases of Moebius syndrome have been familial (occurring in more than one individual in a family), but there has not been a consistent pattern of inheritance among all affected families. In some families the pattern has been suggestive of autosomal dominant inheritance, while in other families it has been suggestive of autosomal recessive or X-linked recessive inheritance.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Causes of Diabetes ?"}, {"role": "assistant", "content": "Type 2 diabetesthe most common form of diabetesis caused by a combination of factors, including insulin resistance, a condition in which the bodys muscle, fat, and liver cells do not use insulin effectively. Type 2 diabetes develops when the body can no longer produce enough insulin to compensate for the impaired ability to use insulin. Symptoms of type 2 diabetes may develop gradually and can be subtle; some people with type 2 diabetes remain undiagnosed for years.\n \nType 2 diabetes develops most often in middle-aged and older people who are also overweight or obese. The disease, once rare in youth, is becoming more common in overweight and obese children and adolescents. Scientists think genetic susceptibility and environmental factors are the most likely triggers of type 2 diabetes.\n \nGenetic Susceptibility\n \nGenes play a significant part in susceptibility to type 2 diabetes. Having certain genes or combinations of genes may increase or decrease a persons risk for developing the disease. The role of genes is suggested by the high rate of type 2 diabetes in families and identical twins and wide variations in diabetes prevalence by ethnicity. Type 2 diabetes occurs more frequently in African Americans, Alaska Natives, American Indians, Hispanics/Latinos, and some Asian Americans, Native Hawaiians, and Pacific Islander Americans than it does in non-Hispanic whites.\n \nRecent studies have combined genetic data from large numbers of people, accelerating the pace of gene discovery. Though scientists have now identified many gene variants that increase susceptibility to type 2 diabetes, the majority have yet to be discovered. The known genes appear to affect insulin production rather than insulin resistance. Researchers are working to identify additional gene variants and to learn how they interact with one another and with environmental factors to cause diabetes.\n \nStudies have shown that variants of the TCF7L2 gene increase susceptibility to type 2 diabetes. For people who inherit two copies of the variants, the risk of developing type 2 diabetes is about 80 percent higher than for those who do not carry the gene variant.1 However, even in those with the variant, diet and physical activity leading to weight loss help delay diabetes, according to the Diabetes Prevention Program (DPP), a major clinical trial involving people at high risk.\n \nGenes can also increase the risk of diabetes by increasing a persons tendency to become overweight or obese. One theory, known as the thrifty gene hypothesis, suggests certain genes increase the efficiency of metabolism to extract energy from food and store the energy for later use. This survival trait was advantageous for populations whose food supplies were scarce or unpredictable and could help keep people alive during famine. In modern times, however, when high-calorie foods are plentiful, such a trait can promote obesity and type 2 diabetes.\n \nObesity and Physical Inactivity\n \nPhysical inactivity and obesity are strongly associated with the development of type 2 diabetes. People who are genetically susceptible to type 2 diabetes are more vulnerable when these risk factors are present.\n \nAn imbalance between caloric intake and physical activity can lead to obesity, which causes insulin resistance and is common in people with type 2 diabetes. Central obesity, in which a person has excess abdominal fat, is a major risk factor not only for insulin resistance and type 2 diabetes but also for heart and blood vessel disease, also called cardiovascular disease (CVD). This excess belly fat produces hormones and other substances that can cause harmful, chronic effects in the body such as damage to blood vessels.\n \nThe DPP and other studies show that millions of people can lower their risk for type 2 diabetes by making lifestyle changes and losing weight. The DPP proved that people with prediabetesat high risk of developing type 2 diabetescould sharply lower their risk by losing weight through regular physical activity and a diet low in fat and calories. In 2009, a follow-up study of DPP participantsthe Diabetes Prevention Program Outcomes Study (DPPOS)showed that the benefits of weight loss lasted for at least 10 years after the original study began.2\n \nRead more about the DPP, funded under National Institutes of Health (NIH) clinical trial number NCT00004992, and the DPPOS, funded under NIH clinical trial number NCT00038727 in Diabetes Prevention Program.\n \nInsulin Resistance\n \nInsulin resistance is a common condition in people who are overweight or obese, have excess abdominal fat, and are not physically active. Muscle, fat, and liver cells stop responding properly to insulin, forcing the pancreas to compensate by producing extra insulin. As long as beta cells are able to produce enough insulin, blood glucose levels stay in the normal range. But when insulin production falters because of beta cell dysfunction, glucose levels rise, leading to prediabetes or diabetes.\n \nAbnormal Glucose Production by the Liver\n \nIn some people with diabetes, an abnormal increase in glucose production by the liver also contributes to high blood glucose levels. Normally, the pancreas releases the hormone glucagon when blood glucose and insulin levels are low. Glucagon stimulates the liver to produce glucose and release it into the bloodstream. But when blood glucose and insulin levels are high after a meal, glucagon levels drop, and the liver stores excess glucose for later, when it is needed. For reasons not completely understood, in many people with diabetes, glucagon levels stay higher than needed. High glucagon levels cause the liver to produce unneeded glucose, which contributes to high blood glucose levels. Metformin, the most commonly used drug to treat type 2 diabetes, reduces glucose production by the liver.\n \nThe Roles of Insulin and Glucagon in Normal Blood Glucose Regulation\n \nA healthy persons body keeps blood glucose levels in a normal range through several complex mechanisms. Insulin and glucagon, two hormones made in the pancreas, help regulate blood glucose levels:\n \n- Insulin, made by beta cells, lowers elevated blood glucose levels. - Glucagon, made by alpha cells, raises low blood glucose levels.\n \n- Insulin helps muscle, fat, and liver cells absorb glucose from the bloodstream, lowering blood glucose levels. - Insulin stimulates the liver and muscle tissue to store excess glucose. The stored form of glucose is called glycogen. - Insulin also lowers blood glucose levels by reducing glucose production in the liver.\n \n- Glucagon signals the liver and muscle tissue to break down glycogen into glucose, which enters the bloodstream and raises blood glucose levels. - If the body needs more glucose, glucagon stimulates the liver to make glucose from amino acids.\n \nMetabolic Syndrome\n \nMetabolic syndrome, also called insulin resistance syndrome, refers to a group of conditions common in people with insulin resistance, including\n \n- higher than normal blood glucose levels - increased waist size due to excess abdominal fat - high blood pressure - abnormal levels of cholesterol and triglycerides in the blood\n \nCell Signaling and Regulation\n \nCells communicate through a complex network of molecular signaling pathways. For example, on cell surfaces, insulin receptor molecules capture, or bind, insulin molecules circulating in the bloodstream. This interaction between insulin and its receptor prompts the biochemical signals that enable the cells to absorb glucose from the blood and use it for energy.\n \nProblems in cell signaling systems can set off a chain reaction that leads to diabetes or other diseases. Many studies have focused on how insulin signals cells to communicate and regulate action. Researchers have identified proteins and pathways that transmit the insulin signal and have mapped interactions between insulin and body tissues, including the way insulin helps the liver control blood glucose levels. Researchers have also found that key signals also come from fat cells, which produce substances that cause inflammation and insulin resistance.\n \nThis work holds the key to combating insulin resistance and diabetes. As scientists learn more about cell signaling systems involved in glucose regulation, they will have more opportunities to develop effective treatments.\n \nBeta Cell Dysfunction\n \nScientists think beta cell dysfunction is a key contributor to type 2 diabetes. Beta cell impairment can cause inadequate or abnormal patterns of insulin release. Also, beta cells may be damaged by high blood glucose itself, a condition called glucose toxicity.\n \nScientists have not determined the causes of beta cell dysfunction in most cases. Single gene defects lead to specific forms of diabetes called maturity-onset diabetes of the young (MODY). The genes involved regulate insulin production in the beta cells. Although these forms of diabetes are rare, they provide clues as to how beta cell function may be affected by key regulatory factors. Other gene variants are involved in determining the number and function of beta cells. But these variants account for only a small percentage of type 2 diabetes cases. Malnutrition early in life is also being investigated as a cause of beta cell dysfunction. The metabolic environment of the developing fetus may also create a predisposition for diabetes later in life.\n \nRisk Factors for Type 2 Diabetes\n \nPeople who develop type 2 diabetes are more likely to have the following characteristics:\n \n- age 45 or older - overweight or obese - physically inactive - parent or sibling with diabetes - family background that is African American, Alaska Native, American Indian, Asian American, Hispanic/Latino, or Pacific Islander American - history of giving birth to a baby weighing more than 9 pounds - history of gestational diabetes - high blood pressure140/90 or aboveor being treated for high blood pressure - high-density lipoprotein (HDL), or good, cholesterol below 35 milligrams per deciliter (mg/dL), or a triglyceride level above 250 mg/dL - polycystic ovary syndrome, also called PCOS - prediabetesan A1C level of 5.7 to 6.4 percent; a fasting plasma glucose test result of 100125 mg/dL, called impaired fasting glucose; or a 2-hour oral glucose tolerance test result of 140199, called impaired glucose tolerance - acanthosis nigricans, a condition associated with insulin resistance, characterized by a dark, velvety rash around the neck or armpits - history of CVD\n \nThe American Diabetes Association (ADA) recommends that testing to detect prediabetes and type 2 diabetes be considered in adults who are overweight or obese and have one or more additional risk factors for diabetes. In adults without these risk factors, testing should begin at age 45.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What to do for What I need to know about Lactose Intolerance ?"}, {"role": "assistant", "content": "Talk with your doctor about your dietary plan. A dietary plan can help you manage the symptoms of lactose intolerance and get enough nutrients. If you have a child with lactose intolerance, follow the diet plan that your childs doctor recommends.\n \nMilk and milk products. You may be able to have milk and milk products without symptoms if you\n \n- drink small amounts of milkhalf a cup or lessat a time - drink small amounts of milk with meals, such as having milk with cereal or having cheese with crackers - add small amounts of milk and milk products to your diet a little at a time and see how you feel - eat milk products that are easier for people with lactose intolerance to break down: - yogurt - hard cheeses such as cheddar and Swiss\n \n\n \nLactose-free and lactose-reduced milk and milk products. You can find lactose-free and lactose-reduced milk and milk products at the grocery store. These products are just as healthy for you as regular milk and milk products.\n \nLactase products. You can use lactase tablets and drops when you have milk and milk products. The lactase enzyme breaks down the lactose in food. Using lactase tablets or drops can help you prevent symptoms of lactose intolerance. Check with your doctor before using these products. Some people, such as young children and pregnant and breastfeeding women, may not be able to use these products.\n \n\n \n\n \nCalcium and Vitamin D If you are lactose intolerant, make sure you get enough calcium each day. Milk and milk products are the most common sources of calcium. Other foods that contain calcium include - fish with soft bones, such as canned salmon or sardines - broccoli and other leafy green vegetables - oranges - almonds, Brazil nuts, and dried beans - tofu - products with the label showing added calcium, such as cereals, fruit juices, and soy milk Vitamin D helps the body absorb and use calcium. Be sure to eat foods that contain vitamin D, such as eggs, liver, and certain kinds of fish, such as salmon. Also, being outside in the sunlight helps your body make vitamin D. Some companies add vitamin D to milk and milk products. If you are able to drink small amounts of milk or eat yogurt, choose those that have vitamin D added. Talk with your doctor about how to get enough nutrientsincluding calcium and vitamin Din your diet or your childs diet. Ask if you should also take a supplement to get enough calcium and vitamin D. For safety reasons, talk with your doctor before using dietary supplements or any other nonmainstream medicine together with or in place of the treatment your doctor prescribes. Read more at www.ods.od.nih.gov and www.nccam.nih.gov.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Breast Cancer ?"}, {"role": "assistant", "content": "Radiation therapy uses high-energy x-rays or other types of radiation to kill cancer cells and shrink tumors. This therapy often follows a lumpectomy, and is sometimes used after mastectomy. During radiation therapy, a machine outside the body sends high-energy beams to kill the cancer cells that may still be present in the affected breast or in nearby lymph nodes. Doctors sometimes use radiation therapy along with chemotherapy, or before or instead of surgery.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Human T-cell leukemia virus type 1 ?"}, {"role": "assistant", "content": "How might human T-cell leukemia virus, type 1 be treated? No cure or treatment exists for human T-cell leukemia virus, type 1 (HTLV-1). Management is focused on early detection and preventing the spread of HTLV-1 to others. Screening blood doners, promoting safe sex and discouraging needle sharing can decrease the number of new infections. Mother-to-child transmission can be reduced by screening pregnant women so infected mothers can avoid breastfeeding.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Chediak-Higashi syndrome inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) PRICKLE1-related progressive myoclonus epilepsy with ataxia ?"}, {"role": "assistant", "content": "PRICKLE1-related progressive myoclonus epilepsy with ataxia is a rare inherited condition characterized by recurrent seizures (epilepsy) and problems with movement. The signs and symptoms of this disorder usually begin between the ages of 5 and 10. Problems with balance and coordination (ataxia) are usually the first symptoms of PRICKLE1-related progressive myoclonus epilepsy with ataxia. Affected children often have trouble walking. Their gait is unbalanced and wide-based, and they may fall frequently. Later, children with this condition develop episodes of involuntary muscle jerking or twitching (myoclonus), which cause additional problems with movement. Myoclonus can also affect muscles in the face, leading to difficulty swallowing and slurred speech (dysarthria). Beginning later in childhood, some affected individuals develop tonic-clonic or grand mal seizures. These seizures involve a loss of consciousness, muscle rigidity, and convulsions. They often occur at night (nocturnally) while the person is sleeping. PRICKLE1-related progressive myoclonus epilepsy with ataxia does not seem to affect intellectual ability. Although a few affected individuals have died in childhood, many have lived into adulthood.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) heterotaxy syndrome ?"}, {"role": "assistant", "content": "Heterotaxy syndrome is a condition in which the internal organs are abnormally arranged in the chest and abdomen. The term \"heterotaxy\" is from the Greek words \"heteros,\" meaning \"other than,\" and \"taxis,\" meaning \"arrangement.\" Individuals with this condition have complex birth defects affecting the heart, lungs, liver, spleen, intestines, and other organs. In the normal body, most of the organs in the chest and abdomen have a particular location on the right or left side. For example, the heart, spleen, and pancreas are on the left side of the body, and most of the liver is on the right. This normal arrangement of the organs is known as \"situs solitus.\" Rarely, the orientation of the internal organs is completely flipped from right to left, a situation known as \"situs inversus.\" This mirror-image orientation usually does not cause any health problems, unless it occurs as part of a syndrome affecting other parts of the body. Heterotaxy syndrome is an arrangement of internal organs somewhere between situs solitus and situs inversus; this condition is also known as \"situs ambiguus.\" Unlike situs inversus, the abnormal arrangement of organs in heterotaxy syndrome often causes serious health problems. Heterotaxy syndrome alters the structure of the heart, including the attachment of the large blood vessels that carry blood to and from the rest of the body. It can also affect the structure of the lungs, such as the number of lobes in each lung and the length of the tubes (called bronchi) that lead from the windpipe to the lungs. In the abdomen, the condition can cause a person to have no spleen (asplenia) or multiple small, poorly functioning spleens (polysplenia). The liver may lie across the middle of the body instead of being in its normal position to the right of the stomach. Some affected individuals also have intestinal malrotation, which is an abnormal twisting of the intestines that occurs in the early stages of development before birth. Depending on the organs involved, signs and symptoms of heterotaxy syndrome can include a bluish appearance of the skin or lips (cyanosis, which is due to a shortage of oxygen), breathing difficulties, an increased risk of infections, and problems with digesting food. The most serious complications are generally caused by critical congenital heart disease, a group of complex heart defects that are present from birth. Biliary atresia, a problem with the bile ducts in the liver, can also cause severe health problems in infancy. Heterotaxy syndrome is often life-threatening in infancy or childhood, even with treatment, although its severity depends on the specific abnormalities involved.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Whipple's Disease ?"}, {"role": "assistant", "content": "Whipple's disease is a multi-system infectious bacterial disease that interferes with the body's ability to metabolize fats. Caused by the bacterium Tropheryma whipplei, the disorder can affect any system in the body, including the brain, eyes, heart, joints, and lungs, but usually occurs in the gastrointestinal system. Neurological symptoms occur in up to 40 percent of individuals and may include dementia, abnormalities of eye and facial muscle movements, headaches, seizures, loss of muscle control, memory loss, weakness, and vision problems. Gastrointestinal symptoms may include diarrhea, weight loss, fatigue, weakness, and abdominal bleeding and pain. Fever, cough, anemia, heart and lung damage, darkening of the skin, and joint soreness may also be present. The disease is more common in men and neurological symptoms are more common in individuals who have severe abdominal disease, Rarely, neurological symptoms may appear without gastrointestinal symptoms and can mimic symptoms of almost any neurologic disease..", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Cardiogenic Shock ?"}, {"role": "assistant", "content": "Immediate Causes\n \nCardiogenic shock occurs if the heart suddenly can't pump enough oxygen-rich blood to the body. The most common cause of cardiogenic shock is damage to the heart muscle from a severe heart attack.\n \nThis damage prevents the hearts main pumping chamber, the left ventricle (VEN-trih-kul), from working well. As a result, the heart can't pump enough oxygen-rich blood to the rest of the body.\n \nIn about 3 percent of cardiogenic shock cases, the hearts lower right chamber, the right ventricle, doesnt work well. This means the heart can't properly pump blood to the lungs, where it picks up oxygen to bring back to the heart and the rest of the body.\n \nWithout enough oxygen-rich blood reaching the bodys major organs, many problems can occur. For example:\n \nCardiogenic shock can cause death if the flow of oxygen-rich blood to the organs isn't restored quickly. This is why emergency medical treatment is required.\n \nIf organs don't get enough oxygen-rich blood, they won't work well. Cells in the organs die, and the organs may never work well again.\n \nAs some organs stop working, they may cause problems with other bodily functions. This, in turn, can worsen shock. For example: - If the kidneys aren't working well, the levels of important chemicals in the body change. This may cause the heart and other muscles to become even weaker, limiting blood flow even more. - If the liver isn't working well, the body stops making proteins that help the blood clot. This can lead to more bleeding if the shock is due to blood loss.\n \nIf the kidneys aren't working well, the levels of important chemicals in the body change. This may cause the heart and other muscles to become even weaker, limiting blood flow even more.\n \nIf the liver isn't working well, the body stops making proteins that help the blood clot. This can lead to more bleeding if the shock is due to blood loss.\n \nHow well the brain, kidneys, and other organs recover will depend on how long a person is in shock. The less time a person is in shock, the less damage will occur to the organs. This is another reason why emergency treatment is so important.\n \nUnderlying Causes\n \nThe underlying causes of cardiogenic shock are conditions that weaken the heart and prevent it from pumping enough oxygen-rich blood to the body.\n \nHeart Attack\n \nMost heart attacks occur as a result of coronary heart disease (CHD). CHD is a condition in which a waxy substance called plaque (plak) narrows or blocks the coronary (heart) arteries.\n \nPlaque reduces blood flow to your heart muscle. It also makes it more likely that blood clots will form in your arteries. Blood clots can partially or completely block blood flow.\n \nConditions Caused by Heart Attack\n \nHeart attacks can cause some serious heart conditions that can lead to cardiogenic shock. One example is ventricular septal rupture. This condition occurs if the wall that separates the ventricles (the hearts two lower chambers) breaks down.\n \nThe breakdown happens because cells in the wall have died due to a heart attack. Without the wall to separate them, the ventricles cant pump properly.\n \nHeart attacks also can cause papillary muscle infarction or rupture. This condition occurs if the muscles that help anchor the heart valves stop working or break because a heart attack cuts off their blood supply. If this happens, blood doesn't flow correctly between the hearts chambers. This prevents the heart from pumping properly.\n \nOther Heart Conditions\n \nSerious heart conditions that may occur with or without a heart attack can cause cardiogenic shock. Examples include:\n \nMyocarditis (MI-o-kar-DI-tis). This is inflammation of the heart muscle.\n \nEndocarditis (EN-do-kar-DI-tis). This is an infection of the inner lining of the heart chambers and valves.\n \nLife-threatening arrhythmias (ah-RITH-me-ahs). These are problems with the rate or rhythm of the heartbeat.\n \nPericardial tamponade (per-ih-KAR-de-al tam-po-NADE). This is too much fluid or blood around the heart. The fluid squeezes the heart muscle so it can't pump properly.\n \nPulmonary Embolism\n \nPulmonary embolism (PE) is a sudden blockage in a lung artery. This condition usually is caused by a blood clot that travels to the lung from a vein in the leg. PE can damage your heart and other organs in your body.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to sepiapterin reductase deficiency ?"}, {"role": "assistant", "content": "Mutations in the SPR gene cause sepiapterin reductase deficiency. The SPR gene provides instructions for making the sepiapterin reductase enzyme. This enzyme is involved in the production of a molecule called tetrahydrobiopterin (also known as BH4). Specifically, sepiapterin reductase is responsible for the last step in the production of tetrahydrobiopterin. Tetrahydrobiopterin helps process several building blocks of proteins (amino acids), and is involved in the production of chemicals called neurotransmitters, which transmit signals between nerve cells in the brain. SPR gene mutations disrupt the production of sepiapterin reductase. Most SPR gene mutations result in an enzyme with little or no function. A nonfunctional sepiapterin reductase leads to a lack of tetrahydrobiopterin. In most parts of the body, there are alternate pathways that do not use sepiapterin reductase for the production of tetrahydrobiopterin, but these pathways are not found in the brain. Therefore, people with sepiapterin reductase deficiency have a lack of tetrahydrobiopterin in the brain. When no tetrahydrobiopterin is produced in the brain, production of dopamine and serotonin is greatly reduced. Among their many functions, dopamine transmits signals within the brain to produce smooth physical movements, and serotonin regulates mood, emotion, sleep, and appetite. The lack of these two neurotransmitters causes the problems with movement and other features of sepiapterin reductase deficiency.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to isobutyryl-CoA dehydrogenase deficiency ?"}, {"role": "assistant", "content": "Mutations in the ACAD8 gene cause IBD deficiency. This gene provides instructions for making the IBD enzyme, which is involved in breaking down valine. ACAD8 gene mutations reduce or eliminate the activity of the IBD enzyme. As a result, valine is not broken down properly. Impaired processing of valine may lead to reduced energy production and the features of IBD deficiency.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Floating-Harbor syndrome ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of Floating-Harbor syndrome: - Gene Review: Gene Review: Floating-Harbor Syndrome - Genetic Testing Registry: Floating-Harbor syndrome - KidsHealth: Bone Age Study These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Netherton syndrome inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to hypermethioninemia ?"}, {"role": "assistant", "content": "Mutations in the AHCY, GNMT, and MAT1A genes cause hypermethioninemia. Inherited hypermethioninemia that is not associated with other metabolic disorders can be caused by shortages (deficiencies) in the enzymes that break down methionine. These enzymes are produced from the MAT1A, GNMT and AHCY genes. The reactions involved in metabolizing methionine help supply some of the amino acids needed for protein production. These reactions are also involved in transferring methyl groups, consisting of a carbon atom and three hydrogen atoms, from one molecule to another (transmethylation), which is important in many cellular processes. The MAT1A gene provides instructions for producing the enzyme methionine adenosyltransferase. This enzyme converts methionine into a compound called S-adenosylmethionine, also known as AdoMet or SAMe. The GNMT gene provides instructions for making the enzyme glycine N-methyltransferase. This enzyme starts the next step in the process, converting AdoMet to a compound called S-adenosyl homocysteine, or AdoHcy. The AHCY gene provides instructions for producing the enzyme S-adenosylhomocysteine hydrolase. This enzyme converts the AdoHcy into the compound homocysteine. Homocysteine may be converted back to methionine or into another amino acid, cysteine. A deficiency of any of these enzymes results in a buildup of methionine in the body, and may cause signs and symptoms related to hypermethioninemia.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Tubular aggregate myopathy ?"}, {"role": "assistant", "content": "Tubular aggregate myopathy is a very rare muscle disease where the presence of tubular aggregates represent the major, if not sole, pathologic change in the muscle cell. It is often characterized by muscle weakness or stiffness, cramps, and exercise induced muscle fatigue. The exact cause of the condition is unknown. Sporadic and genetic forms have been reported. Some cases appear to be due to dominant mutations in the STIM1 gene.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by MECP2-related severe neonatal encephalopathy ?"}, {"role": "assistant", "content": "MECP2-related severe neonatal encephalopathy is likely a rare condition. Twenty to 30 affected males have been reported in the scientific literature.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by Horner syndrome ?"}, {"role": "assistant", "content": "About 1 in 6,250 babies are born with Horner syndrome. The incidence of Horner syndrome that appears later is unknown, but it is considered an uncommon disorder.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How many people are affected by multiple sulfatase deficiency ?"}, {"role": "assistant", "content": "Multiple sulfatase deficiency is estimated to occur in 1 per million individuals worldwide. Approximately 50 cases have been reported in the scientific literature.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for cyclic vomiting syndrome ?"}, {"role": "assistant", "content": "These resources address the diagnosis or management of cyclic vomiting syndrome: - Children's Hospital of Wisconsin - Genetic Testing Registry: Cyclical vomiting syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of L-2-hydroxyglutaric aciduria ?"}, {"role": "assistant", "content": "What are the signs and symptoms of L-2-hydroxyglutaric aciduria? The Human Phenotype Ontology provides the following list of signs and symptoms for L-2-hydroxyglutaric aciduria. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Encephalitis 90% Seizures 90% Abnormality of extrapyramidal motor function 50% Aplasia/Hypoplasia of the cerebellum 50% Behavioral abnormality 50% Hypertonia 50% Macrocephaly 50% Muscular hypotonia 50% Neoplasm of the nervous system 50% Neurological speech impairment 7.5% Abnormal pyramidal signs - Autosomal recessive inheritance - Cerebellar atrophy - Corpus callosum atrophy - Developmental regression - Dysphasia - Gliosis - Global brain atrophy - Hearing impairment - Infantile onset - Intellectual disability, progressive - Intellectual disability, severe - L-2-hydroxyglutaric acidemia - L-2-hydroxyglutaric aciduria - Leukoencephalopathy - Morphological abnormality of the pyramidal tract - Nystagmus - Optic atrophy - Severe demyelination of the white matter - Spastic tetraparesis - Strabismus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to mucolipidosis II alpha/beta ?"}, {"role": "assistant", "content": "Mutations in the GNPTAB gene cause mucolipidosis II alpha/beta. This gene provides instructions for making part of an enzyme called GlcNAc-1-phosphotransferase. This enzyme helps prepare certain newly made enzymes for transport to lysosomes. Lysosomes are compartments within the cell that use digestive enzymes to break down large molecules into smaller ones that can be reused by cells. GlcNAc-1-phosphotransferase is involved in the process of attaching a molecule called mannose-6-phosphate (M6P) to specific digestive enzymes. Just as luggage is tagged at the airport to direct it to the correct destination, enzymes are often \"tagged\" after they are made so they get to where they are needed in the cell. M6P acts as a tag that indicates a digestive enzyme should be transported to the lysosome. Mutations in the GNPTAB gene that cause mucolipidosis II alpha/beta prevent the production of any functional GlcNAc-1-phosphotransferase. Without this enzyme, digestive enzymes cannot be tagged with M6P and transported to lysosomes. Instead, they end up outside the cell and have increased digestive activity. The lack of digestive enzymes within lysosomes causes large molecules to accumulate there. Conditions that cause molecules to build up inside lysosomes, including mucolipidosis II alpha/beta, are called lysosomal storage disorders. The signs and symptoms of mucolipidosis II alpha/beta are most likely caused by the lack of digestive enzymes within lysosomes and the effects these enzymes have outside the cell. Mutations in the GNPTAB gene can also cause a similar but milder disorder called mucolipidosis III alpha/beta. Instead of preventing the production of any enzyme, these mutations reduce the activity of GlcNAc-1-phosphotransferase. Mucolipidosis III alpha/beta and mucolipidosis II alpha/beta represent two ends of a spectrum of disease severity.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to 1p36 deletion syndrome ?"}, {"role": "assistant", "content": "1p36 deletion syndrome is caused by a deletion of genetic material from a specific region in the short (p) arm of chromosome 1. The signs and symptoms of 1p36 deletion syndrome are probably related to the loss of multiple genes in this region. The size of the deletion varies among affected individuals.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Fragile X syndrome ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Fragile X syndrome? Fragile X syndrome is characterized by developmental problems including intellectual disability and delayed speech and language development. Males are usually more severely affected than females. Additional features may include anxiety; attention deficit disorder (ADD); features of autism spectrum disorders that affect communication and social interaction; and seizures. Most males and some females with fragile X syndrome have characteristic physical features that become more apparent with age. These features may include a long and narrow face; large ears; a prominent jaw and forehead; unusually flexible fingers; flat feet; and in males, enlarged testicles (macroorchidism) after puberty. The Human Phenotype Ontology provides the following list of signs and symptoms for Fragile X syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Joint hypermobility 90% Macroorchidism 90% Neurological speech impairment 90% Otitis media 90% Pes planus 90% Abnormality of the pinna 50% Attention deficit hyperactivity disorder 50% Frontal bossing 50% Intellectual disability, moderate 50% Long face 50% Macrocephaly 50% Mandibular prognathia 50% Muscular hypotonia 50% Narrow face 50% Sinusitis 50% Abnormality of the mitral valve 7.5% Autism 7.5% Cerebral cortical atrophy 7.5% Dilatation of the ascending aorta 7.5% Seizures 7.5% Self-injurious behavior 7.5% Strabismus 7.5% Abnormal head movements - Coarse facial features - Congenital macroorchidism - Folate-dependent fragile site at Xq28 - Hyperactivity - Incomplete penetrance - Joint laxity - Large forehead - Macroorchidism, postpubertal - Macrotia - Mitral valve prolapse - Pectus excavatum - Periventricular gray matter heterotopia - Poor eye contact - Scoliosis - X-linked dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Anemia in Chronic Kidney Disease ?"}, {"role": "assistant", "content": "Anemia is a condition in which the body has fewer red blood cells than normal. Red blood cells carry oxygen to tissues and organs throughout the body and enable them to use energy from food. With anemia, red blood cells carry less oxygen to tissues and organsparticularly the heart and brainand those tissues and organs may not function as well as they should.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Multisystemic smooth muscle dysfunction syndrome ?"}, {"role": "assistant", "content": "Multisystemic smooth muscle dysfunction syndrome is a disease in which the activity of smooth muscle throughout the body is impaired. This leads to widespread problems including blood vessel abnormalities, a decreased response of the pupils to light, a weak bladder, and weakened contractions of the muscles used for the digestion of food (hypoperistalsis). A certain mutation in the ACTA2 gene has been shown to cause this condition in some individuals.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Colpocephaly ?"}, {"role": "assistant", "content": "Colpocephaly is a congenital brain abnormality in which the occipital horns - the posterior or rear portion of the lateral ventricles (cavities) of the brain - are larger than normal because white matter in the posterior cerebrum has failed to develop or thicken.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Fragile X syndrome ?"}, {"role": "assistant", "content": "Fragile X syndrome is a genetic condition involving changes in part of the X chromosome. This condition causes a range of developmental problems including learning disabilities and cognitive impairment. It is the most common form of inherited intellectual disability in males and a significant cause of intellectual disability in females. Other signs and symptoms may include symptoms of autism spectrum disorders, seizures, and characteristic physical features. Fragile X syndrome is caused by a change (mutation) in the FMR1 gene and is inherited in an X-linked dominant manner.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Brugada syndrome inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition. Other cases may result from new mutations in the gene. These cases occur in people with no history of the disorder in their family.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Bartter syndrome ?"}, {"role": "assistant", "content": "What causes Bartter syndrome? Bartter syndrome may be caused by mutations in any one of several genes; the genetic cause in each case corresponds to the type of Bartter syndrome each affected individual has. Types I, II and IV typically result in the antenatal forms of Bartter syndrome (beginning before birth) while type III results in classical Bartter syndrome (usually beginning in early childhood). Type I results from mutations in the SLC12A1 gene; type II from mutations in the KCNJ1 gene; type III from mutations in the CLCNKB gene; and type IV from mutations in the BSND gene, or from a combination of mutations in the CLCNKA and CLCNKB genes. In some people with Bartter syndrome, the genetic cause of the disorder remains unknown; there may be other genes that cause the condition that have not yet been identified. All of these genes are essential for normal kidney function - they are involved in the kidneys' abilities to reabsorb salt. Abnormal changes in these genes impair these abilities, allowing for the loss of excess salt through the urine and also affecting the reabsorption of other things including potassium and calcium. The resulting imbalance of these in the body lead to the signs and symptoms of Bartter syndrome.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Warfarin sensitivity ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Warfarin sensitivity? The Human Phenotype Ontology provides the following list of signs and symptoms for Warfarin sensitivity. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of blood and blood-forming tissues - Abnormality of metabolism/homeostasis - Autosomal dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Mevalonic aciduria ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Mevalonic aciduria? The Human Phenotype Ontology provides the following list of signs and symptoms for Mevalonic aciduria. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cerebral cortical atrophy 90% Cognitive impairment 90% Delayed skeletal maturation 90% Dolichocephaly 90% Microcephaly 90% Muscular hypotonia 90% Seizures 90% Short stature 90% Splenomegaly 90% Triangular face 90% Blue sclerae 50% Cataract 50% Incoordination 50% Low-set, posteriorly rotated ears 50% Kyphoscoliosis 5% Aciduria - Agenesis of cerebellar vermis - Arthralgia - Autosomal recessive inheritance - Cerebellar atrophy - Cerebral atrophy - Diarrhea - Edema - Elevated hepatic transaminases - Elevated serum creatine phosphokinase - Failure to thrive - Fluctuating hepatomegaly - Fluctuating splenomegaly - Large fontanelles - Leukocytosis - Low-set ears - Lymphadenopathy - Morbilliform rash - Normocytic hypoplastic anemia - Nystagmus - Posteriorly rotated ears - Progressive cerebellar ataxia - Skin rash - Thrombocytopenia - Vomiting - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Metastatic Squamous Neck Cancer with Occult Primary ?"}, {"role": "assistant", "content": "Signs and symptoms of metastatic squamous neck cancer with occult primary include a lump or pain in the neck or throat. Check with your doctor if you have a lump or pain in your neck or throat that doesn't go away. These and other signs and symptoms may be caused by metastatic squamous neck cancer with occult primary. Other conditions may cause the same signs and symptoms.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "How to diagnose Diffuse idiopathic skeletal hyperostosis ?"}, {"role": "assistant", "content": "How is diffuse idiopathic skeletal hyperostosis diagnosed? A diagnosis of diffuse idiopathic skeletal hyperostosis (DISH) is often suspected based on the presence of characteristic signs and symptoms. X-rays may then be ordered to confirm the diagnosis. In some cases, a computed tomography (CT scan) and/or magnetic resonance imaging (MRI) may also be ordered to rule out other conditions that cause similar features.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Do you have information about Radiation Emergencies"}, {"role": "assistant", "content": "Summary : Radiation is a type of energy. People are exposed to small amounts of radiation every day from sources such as sunlight. A radiation emergency would involve larger amounts of radiation and could be caused by - Dirty bombs - a mix of explosives with radioactive powder - Fallout from a nuclear bomb - Accidental release from a nuclear reactor or a nuclear weapons plant A lot of radiation over a short period can cause burns or radiation sickness. If the exposure is large enough, it can cause premature aging or even death. Although there are no guarantees of safety during a radiation emergency, you can take actions to protect yourself. You should have a disaster plan. Being prepared can help reduce fear, anxiety and losses. If you do experience a disaster, it is normal to feel stressed. You may need help in finding ways to cope. Centers for Disease Control and Prevention", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for What I need to know about Gestational Diabetes ?"}, {"role": "assistant", "content": "Treating gestational diabetes means taking steps to keep your blood glucose levels in a target range. Targets are numbers you aim for. Your doctor will help you set your targets. You will learn how to control your blood glucose using\n \n- healthy eating - physical activity - insulin shots, if needed", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Globozoospermia ?"}, {"role": "assistant", "content": "Globozoospermia is a rare form of male infertility. Men affected by this condition have abnormal sperm with a round (rather than oval) head and no acrosome (a cap-like covering which contains enzymes that break down the outer membrane of an egg cell). As a result of these abnormalities, the sperm are unable to fertilize an egg cell, leading to male factor infertility. Approximately 70% of men with globozoospermia have changes (mutations) in the DPY19L2 gene, which are inherited in an autosomal recessive manner. In the remaining cases, the underlying cause of the condition is unknown; however, researchers suspect that mutations in other genes likely cause globozoospermia. Although there is currently no cure for the condition, certain assisted reproductive technologies (ICSI combined with assisted egg cell activation, specifically) can help men affected by the condition conceive children.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the genetic changes related to warfarin sensitivity ?"}, {"role": "assistant", "content": "Many genes are involved in the metabolism of warfarin and in determining the drug's effects in the body. Certain common changes (polymorphisms) in the CYP2C9 and VKORC1 genes account for 30 percent of the variation in warfarin metabolism due to genetic factors. Polymorphisms in other genes, some of which have not been identified, have a smaller effect on warfarin metabolism. The CYP2C9 gene provides instructions for making an enzyme that breaks down compounds including steroids and fatty acids. The CYP2C9 enzyme also breaks down certain drugs, including warfarin. Several CYP2C9 gene polymorphisms can decrease the activity of the CYP2C9 enzyme and slow the body's metabolism of warfarin. As a result, the drug remains active in the body for a longer period of time, leading to warfarin sensitivity. The VKORC1 gene provides instructions for making a vitamin K epoxide reductase enzyme. The VKORC1 enzyme helps turn on (activate) clotting proteins in the pathway that forms blood clots. Warfarin prevents (inhibits) the action of VKORC1 and slows the activation of clotting proteins and clot formation. Certain VKORC1 gene polymorphisms decrease the amount of functional VKORC1 enzyme available to help activate clotting proteins. Individuals develop warfarin sensitivity because less warfarin is needed to inhibit the VKORC1 enzyme, as there is less functional enzyme that needs to be suppressed. While changes in specific genes, particularly CYP2C9 and VKORC1, affect how the body reacts to warfarin, many other factors, including gender, age, weight, diet, and other medications, also play a role in the body's interaction with this drug.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the treatments for Narcolepsy ?"}, {"role": "assistant", "content": "How might narcolepsy be treated? There is currently no cure for narcolepsy, but some of the symptoms can be managed with medications and lifestyle changes. Most affected people improve if they maintain a regular sleep schedule, usually 7.5 to 8 hours of sleep per night. Scheduled naps during the day also may help. Other measures that may help include participating in an exercise program; receiving emotional support and career or vocational counseling; and avoiding high-risk behaviors such as alcohol and drug use, which may make symptoms worse. Common-sense measures should be taken to enhance sleep quality (such as avoiding heavy meals before bed time). Treatment with medications involves the use of central nervous system (CNS) stimulants. These medications help reduce daytime sleepiness and improve this symptom in 65-85% of affected people. Two types of antidepressant drugs (tricyclics, and selective serotonin and noradrenergic reuptake inhibitors) are effective in controlling cataplexy in many people. Sodium oxybate (a strong sedative taken during the night) may also be used to treat narcolepsy. You can view detailed information about the treatment of narcolepsy on Medscape's Web site.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Joubert syndrome ?"}, {"role": "assistant", "content": "What causes Joubert syndrome? Joubert syndrome and related disorders may be caused by changes (mutations) in any of many genes (some of which are unknown). The proteins made from these genes are either known, or thought, to affect cell structures called cilia. Cilia are projections on the cell surface that play a role in signaling. They are important for many cell types, including neurons, liver cells and kidney cells. Cilia also play a role in the senses such as sight, hearing, and smell. Mutations in the genes responsible for Joubert syndrome and related disorders cause problems with the structure and function of cilia, likely disrupting important signaling pathways during development. However, it is still unclear how specific developmental abnormalities result from these problems.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Poland syndrome inherited ?"}, {"role": "assistant", "content": "Is Poland syndrome inherited? Poland syndrome is rarely inherited and generally sporadic. Sporadic refers to the chance occurrence of a non-genetic disorder or abnormality that is not likely to recur in a family. In the few reported familial cases, researchers suggest that the condition may have stemmed from an inherited susceptibility to events such as interruption of blood flow that may predispose a person to the anomaly (i.e., make a person more likely to develop the anomaly).", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Tooth Disorders ?"}, {"role": "assistant", "content": "Your teeth are made of a hard, bonelike material. Inside the tooth are nerves and blood vessels. You need your teeth for many activities you may take for granted. These include eating, speaking and even smiling. But tooth disorders are nothing to smile about. They include problems such as cavities (also known as tooth decay), infections, and injuries. The most familiar symptom of a tooth problem is a toothache. Others include worn-down or loose teeth. It's important that you see a dentist if you have any problems with your teeth. Fortunately, you can prevent many tooth disorders by taking care of your teeth and keeping them clean.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Diabetes ?"}, {"role": "assistant", "content": "Prediabetes means your blood glucose levels are higher than normal but not high enough for a diagnosis of diabetes. In 2012, about 86 million people in the U.S. had prediabetes, and 51% of those 65 or older had prediabetes. People with prediabetes are at an increased risk for developing type 2 diabetes and for heart disease and stroke. The good news is that if you have prediabetes, you can reduce your risk of getting type 2 diabetes. With modest weight loss and moderate physical activity, you can delay or prevent type 2 diabetes. Learn more about prediabetes here.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Who is at risk for Gallstones? ?"}, {"role": "assistant", "content": "Certain people have a higher risk of developing gallstones than others:2\n \n- Women are more likely to develop gallstones than men. Extra estrogen can increase cholesterol levels in bile and decrease gallbladder contractions, which may cause gallstones to form. Women may have extra estrogen due to pregnancy, hormone replacement therapy, or birth control pills. - People over age 40 are more likely to develop gallstones than younger people. - People with a family history of gallstones have a higher risk. - American Indians have genetic factors that increase the amount of cholesterol in their bile. In fact, American Indians have the highest rate of gallstones in the United Statesalmost 65 percent of women and 30 percent of men have gallstones. - Mexican Americans are at higher risk of developing gallstones.\n \nOther factors that affect a persons risk of gallstones include2\n \n- Obesity. People who are obese, especially women, have increased risk of developing gallstones. Obesity increases the amount of cholesterol in bile, which can cause stone formation. - Rapid weight loss. As the body breaks down fat during prolonged fasting and rapid weight loss, the liver secretes extra cholesterol into bile. Rapid weight loss can also prevent the gallbladder from emptying properly. Low-calorie diets and bariatric surgerysurgery that limits the amount of food a person can eat or digestlead to rapid weight loss and increased risk of gallstones. - Diet. Research suggests diets high in calories and refi ned carbohydrates and low in fi ber increase the risk of gallstones. Refi ned carbohydrates are grains processed to remove bran and germ, which contain nutrients and fiber. Examples of refi ned carbohydrates include white bread and white rice. - Certain intestinal diseases. Diseases that affect normal absorption of nutrients, such as Crohns disease, are associated with gallstones. - Metabolic syndrome, diabetes, and insulin resistance. These conditions increase the risk of gallstones. Metabolic syndrome also increases the risk of gallstone complications. Metabolic syndrome is a group of traits and medical conditions linked to being overweight or obese that puts people at risk for heart disease and type 2 diabetes.\n \nMore information about these conditions is provided in the NIDDK health topic, Insulin Resistance and Prediabetes.\n \n- cirrhosisa condition in which the liver slowly deteriorates and malfunctions due to chronic, or long lasting, injury - infections in the bile ducts - severe hemolytic anemiasconditions in which red blood cells are continuously broken down, such as sickle cell anemia", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Spinocerebellar ataxia 3 ?"}, {"role": "assistant", "content": "Spinocerebellar ataxia 3 is a rare movement disorder that is characterized by ataxia, clumsiness and weakness in the arms and legs, spasticity, a staggering lurching walk easily mistaken for drunkenness, difficulty with speech and swallowing, and involuntary eye movements sometimes accompanied by double vision, and bulging eyes. Some patients have dystonia or symptoms similar to those of Parkinson's disease. Others have twitching of the face or tongue, neuropathy, or problems with urination and the autonomic nervous system. Symptoms can begin any time between childhood and about 70 years of age. Spinocerebellar ataxia 3 is a progressive disease, meaning that symptoms get worse with time. Life expectancy ranges from the mid-thirties for those with severe forms of the disorder to a normal life expectancy for those with mild forms. Spinocerebellar ataxia is inherited in an autosomal dominant pattern and is caused by a trinucleotide repeat expansion in the ataxin-3 gene (ATXN3).", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) Gum Disease ?"}, {"role": "assistant", "content": "If you have gum disease, you're not alone. Many U.S. adults currently have some form of the disease. It ranges from simple gum inflammation, called gingivitis, to serious damage to the tissue and bone supporting the teeth. In the worst cases, you can lose teeth. In gingivitis, the gums become red and swollen. They can bleed easily. Gingivitis is a mild form of gum disease. You can usually reverse it with daily brushing and flossing and regular cleanings by a dentist or dental hygienist. Untreated gingivitis can lead to periodontitis. If you have periodontitis, the gums pull away from the teeth and form pockets that become infected. If not treated, the bones, gums and connective tissue that support the teeth are destroyed. NIH: National Institute of Dental and Craniofacial Research", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is glucose phosphate isomerase deficiency inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "what research (or clinical trials) is being done for Osteosarcoma and Malignant Fibrous Histiocytoma of Bone ?"}, {"role": "assistant", "content": "New types of treatment are being tested in clinical trials.\n\t This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about ongoing clinical trials is available from the NCI website. Targeted therapy Targeted therapy is a treatment that uses drugs or other substances to find and attack specific cancer cells without harming normal cells. Kinase inhibitor therapy and monoclonal antibody therapy are types of targeted therapy being studied in clinical trials for osteosarcoma. Kinase inhibitor therapy blocks a protein needed for cancer cells to divide. Sorafenib is a type of kinase inhibitor therapy being studied for the treatment of recurrent osteosarcoma. Monoclonal antibody therapy is a cancer treatment that uses antibodies made in the laboratory, from a single type of immune system cell. These antibodies can identify substances on cancer cells or normal substances that may help cancer cells grow. The antibodies attach to the substances and kill the cancer cells, block their growth, or keep them from spreading. Monoclonal antibodies are given by infusion. They may be used alone or to carry drugs, toxins, or radioactive material directly to cancer cells. Denosumab, dinutuximab, and glembatumumab are monoclonal antibodies being studied for the treatment of recurrent osteosarcoma.\n\t \n\t \n\t Patients may want to think about taking part in a clinical trial.\n\t For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward.\n\t \n\t \n\t Patients can enter clinical trials before, during, or after starting their cancer treatment.\n\t Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.\n\t \n\t \n\t Follow-up tests may be needed.\n\t Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your child's condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is the outlook for Trigeminal Neuralgia ?"}, {"role": "assistant", "content": "The disorder is characterized by recurrences and remissions, and successive recurrences may incapacitate the patient. Due to the intensity of the pain, even the fear of an impending attack may prevent activity. Trigeminal neuralgia is not fatal.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Tyrosinemia type 3 ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Tyrosinemia type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Tyrosinemia type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) 4-Hydroxyphenylacetic aciduria - 4-Hydroxyphenylpyruvic aciduria - Abnormality of the liver - Autosomal recessive inheritance - Hypertyrosinemia - Intellectual disability, mild - Seizures - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What causes Rh Incompatibility ?"}, {"role": "assistant", "content": "A difference in blood type between a pregnant woman and her baby causes Rh incompatibility. The condition occurs if a woman is Rh-negative and her baby is Rh-positive.\n \nWhen you're pregnant, blood from your baby can cross into your bloodstream, especially during delivery. If you're Rh-negative and your baby is Rh-positive, your body will react to the baby's blood as a foreign substance.\n \nYour body will create antibodies (proteins) against the baby's Rh-positive blood. These antibodies can cross the placenta and attack the baby's red blood cells. This can lead to hemolytic anemia in the baby.\n \nRh incompatibility usually doesn't cause problems during a first pregnancy. The baby often is born before many of the antibodies develop.\n \nHowever, once you've formed Rh antibodies, they remain in your body. Thus, the condition is more likely to cause problems in second or later pregnancies (if the baby is Rh-positive).\n \nWith each pregnancy, your body continues to make Rh antibodies. As a result, each Rh-positive baby you conceive becomes more at risk for serious problems, such as severe hemolytic anemia.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What is (are) BRCA1 hereditary breast and ovarian cancer syndrome ?"}, {"role": "assistant", "content": "BRCA1 hereditary breast and ovarian cancer syndrome (BRCA1 HBOC) is an inherited condition that is characterized by an increased risk for a variety of different cancers. Women with this condition have a 57-60% risk of developing breast cancer, a 40-59% risk of developing ovarian cancer and an 83% risk of developing contralateral breast cancer by age 70. Men have a 1% lifetime risk of breast cancer and an increased risk for prostate cancer. BRCA1 HBOC may also be associated with an elevated risk for cancers of the cervix, uterus, pancreas, esophagus, stomach, fallopian tube, and primary peritoneum; however, these risks are not well defined. This condition is caused by changes (mutations) in the BRCA1 gene and is inherited in an autosomal dominant manner. Management may include high risk cancer screening, chemoprevention and/or prophylactic surgeries.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Mowat-Wilson syndrome inherited ?"}, {"role": "assistant", "content": "This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "What are the symptoms of Familial dermographism ?"}, {"role": "assistant", "content": "What are the signs and symptoms of Familial dermographism? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial dermographism. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Dermatographic urticaria - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.", "weight": 1}]} {"messages": [{"role": "system", "content": "The assistant is a factual and informative medical chatbot."}, {"role": "user", "content": "Is Fragile X syndrome inherited ?"}, {"role": "assistant", "content": "How is fragile X syndrome inherited? Fragile X syndrome (FXS) is inherited in an X-linked dominant manner. A condition is X-linked if the responsible gene is located on the X chromosome. The inheritance is dominant if having only one changed (mutated) copy of the responsible gene is enough to cause symptoms of the condition. In women who carry an FMR1 gene premutation (approximately 55 to 200 CGG repeats), the repeats can expand to more than 200 repeats in their cells that develop into eggs. This means that women with a premutation (or a full mutation) have an increased risk to have a child with FXS. The size of the risk corresponds to the number of CGG repeats they have. By contrast, men with premutations are not at risk for the repeats expanding to over 200 when passing the gene to offspring. However, men with a premutation will pass the premutation on to all of their daughters and none of their sons. This is because boys receive only a Y chromosome from their fathers.", "weight": 1}]}