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What is (are) familial isolated hyperparathyroidism ?

Familial isolated hyperparathyroidism is an inherited condition characterized by overactivity of the parathyroid glands (hyperparathyroidism). The four parathyroid glands are located in the neck, and they release a hormone called parathyroid hormone that regulates the amount of calcium in the blood. In familial isolated hyperparathyroidism, one or more overactive parathyroid glands release excess parathyroid hormone, which causes the levels of calcium in the blood to rise (hypercalcemia). Parathyroid hormone stimulates the removal of calcium from bone and the absorption of calcium from the diet, and the mineral is then released into the bloodstream. In people with familial isolated hyperparathyroidism, the production of excess parathyroid hormone is caused by tumors that involve the parathyroid glands. Typically only one of the four parathyroid glands is affected, but in some people, more than one gland develops a tumor. The tumors are usually noncancerous (benign), in which case they are called adenomas. Rarely, people with familial isolated hyperparathyroidism develop a cancerous tumor called parathyroid carcinoma. Because the production of excess parathyroid hormone is caused by abnormalities of the parathyroid glands, familial isolated hyperparathyroidism is considered a form of primary hyperparathyroidism. Disruption of the normal calcium balance resulting from overactive parathyroid glands causes many of the common signs and symptoms of familial isolated hyperparathyroidism, such as kidney stones, nausea, vomiting, high blood pressure (hypertension), weakness, and fatigue. Because calcium is removed from bones to be released into the bloodstream, hyperparathyroidism often causes thinning of the bones (osteoporosis). The age at which familial isolated hyperparathyroidism is diagnosed varies from childhood to adulthood. Often, the first indication of the condition is elevated calcium levels identified through a routine blood test, even though the affected individual may not yet have signs or symptoms of hyperparathyroidism or hypercalcemia.

What is (are) Tabes Dorsalis ?

Tabes dorsalis is a slow degeneration of the nerve cells and nerve fibers that carry sensory information to the brain. The degenerating nerves are in the dorsal columns of the spinal cord (the portion closest to the back of the body) and carry information that help maintain a person's sense of position. Tabes dorsalis is the result of an untreated syphilis infection. Symptoms may not appear for some decades after the initial infection and include weakness, diminished reflexes, unsteady gait, progressive degeneration of the joints, loss of coordination, episodes of intense pain and disturbed sensation, personality changes, dementia, deafness, visual impairment, and impaired response to light. The disease is more frequent in males than in females. Onset is commonly during mid-life. The incidence of tabes dorsalis is rising, in part due to co-associated HIV infection.

What is (are) Tetanus, Diphtheria, and Pertussis Vaccines ?

Tetanus, diphtheria, and pertussis (whooping cough) are serious bacterial infections. Tetanus causes painful tightening of the muscles, usually all over the body. It can lead to "locking" of the jaw. Diphtheria usually affects the nose and throat. Whooping cough causes uncontrollable coughing. Vaccines can protect you from these diseases. In the U.S., there are four combination vaccines: - DTaP prevents all three diseases. It is for children younger than seven years old. - Tdap also prevents all three. It is for older children and adults. - DT prevents diphtheria and tetanus. It is for children younger than seven who cannot tolerate the pertussis vaccine. - Td prevents diphtheria and tetanus. It is for older children and adults. It is usually given as a booster dose every 10 years. You may also get it earlier if you get a severe and dirty wound or burn. Some people should not get these vaccines, including those who have had severe reactions to the shots before. Check with your doctor first if you have seizures, a neurologic problem, or Guillain-Barre syndrome. Also let your doctor know if you don't feel well the day of the shot; you may need to postpone it. Centers for Disease Control and Prevention

What is (are) Mouth Disorders ?

Your mouth is one of the most important parts of your body. Any problem that affects your mouth can make it hard to eat, drink or even smile. Some common mouth problems include - Cold sores - painful sores on the lips and around the mouth, caused by a virus - Canker sores - painful sores in the mouth, caused by bacteria or viruses - Thrush - a yeast infection that causes white patches in your mouth - Leukoplakia - white patches of excess cell growth on the cheeks, gums or tongue, common in smokers - Dry mouth - a lack of enough saliva, caused by some medicines and certain diseases - Gum or tooth problems - Bad breath Treatment for mouth disorders varies, depending on the problem. Keeping a clean mouth by brushing and flossing often is important.

What is (are) Buerger disease ?

Buerger disease is a disease of the arteries and veins in the arms and legs. The arteries and veins become inflamed which can lead to narrowed and blocked vessels. This reduces blood flow resulting in pain and eventually damage to affected tissues. Buerger disease nearly always occurs in association with cigarette or other tobacco use. Quitting all forms of tobacco is an essential part of treatment.

What is (are) propionic acidemia ?

Propionic acidemia is an inherited disorder in which the body is unable to process certain parts of proteins and lipids (fats) properly. It is classified as an organic acid disorder, which is a condition that leads to an abnormal buildup of particular acids known as organic acids. Abnormal levels of organic acids in the blood (organic acidemia), urine (organic aciduria), and tissues can be toxic and can cause serious health problems. In most cases, the features of propionic acidemia become apparent within a few days after birth. The initial symptoms include poor feeding, vomiting, loss of appetite, weak muscle tone (hypotonia), and lack of energy (lethargy). These symptoms sometimes progress to more serious medical problems, including heart abnormalities, seizures, coma, and possibly death. Less commonly, the signs and symptoms of propionic acidemia appear during childhood and may come and go over time. Some affected children experience intellectual disability or delayed development. In children with this later-onset form of the condition, episodes of more serious health problems can be triggered by prolonged periods without food (fasting), fever, or infections.

What is (are) Pneumococcal Infections ?

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

What is (are) Cleft Lip and Palate ?

Cleft lip and cleft palate are birth defects that occur when a baby's lip or mouth do not form properly. They happen early during pregnancy. A baby can have a cleft lip, a cleft palate, or both. A cleft lip happens if the tissue that makes up the lip does not join completely before birth. This causes an opening in the upper lip. The opening can be a small slit or a large opening that goes through the lip into the nose. It can be on one or both sides of the lip or, rarely, in the middle of the lip. Children with a cleft lip also can have a cleft palate. The roof of the mouth is called the "palate." With a cleft palate, the tissue that makes up the roof of the mouth does not join correctly. Babies may have both the front and back parts of the palate open, or they may have only one part open. Children with a cleft lip or a cleft palate often have problems with feeding and talking. They also might have ear infections, hearing loss, and problems with their teeth. Often, surgery can close the lip and palate. Cleft lip surgery is usually done before age 12 months, and cleft palate surgery is done before 18 months. Many children have other complications. They may need additional surgeries, dental and orthodontic care, and speech therapy as they get older. With treatment, most children with clefts do well and lead a healthy life. Centers for Disease Control and Prevention

What is (are) Inguinal Hernia ?

The inguinal canal is a passage through the lower abdominal wall. People have two inguinal canalsone on each side of the lower abdomen. In males, the spermatic cords pass through the inguinal canals and connect to the testicles in the scrotumthe sac around the testicles. The spermatic cords contain blood vessels, nerves, and a duct, called the spermatic duct, that carries sperm from the testicles to the penis. In females, the round ligaments, which support the uterus, pass through the inguinal canals.

What is (are) Pregnancy and Substance Abuse ?

When you are pregnant, you are not just "eating for two." You also breathe and drink for two, so it is important to carefully consider what you give to your baby. If you smoke, use alcohol or take illegal drugs, so does your unborn baby. First, don't smoke. Smoking during pregnancy passes nicotine and cancer-causing drugs to your baby. Smoke also keeps your baby from getting nourishment and raises the risk of stillbirth or premature birth. Don't drink alcohol. There is no known safe amount of alcohol a woman can drink while pregnant. Alcohol can cause life-long physical and behavioral problems in children, including fetal alcohol syndrome. Don't use illegal drugs. Using illegal drugs may cause underweight babies, birth defects or withdrawal symptoms after birth. If you are pregnant and you smoke, drink alcohol or do drugs, get help. Your health care provider can recommend programs to help you quit. You and your baby will be better off. Dept. of Health and Human Services Office on Women's Health

What is (are) Methylcobalamin deficiency cbl G type ?

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.

What is (are) Colonic Polyps ?

A polyp is an extra piece of tissue that grows inside your body. Colonic polyps grow in the large intestine, or colon. Most polyps are not dangerous. However, some polyps may turn into cancer or already be cancer. To be safe, doctors remove polyps and test them. Polyps can be removed when a doctor examines the inside of the large intestine during a colonoscopy. Anyone can get polyps, but certain people are more likely than others. You may have a greater chance of getting polyps if you - Are over age 50 - Have had polyps before - Have a family member with polyps - Have a family history of colon cancer Most colon polyps do not cause symptoms. If you have symptoms, they may include blood on your underwear or on toilet paper after a bowel movement, blood in your stool, or constipation or diarrhea lasting more than a week. NIH: National Institute of Diabetes and Digestive and Kidney Diseases

What is (are) Carotid Artery Disease ?

Carotid artery disease is a disease in which a waxy substance called plaque builds up inside the carotid arteries. You have two common carotid arteries, one on each side of your neck. They each divide into internal and external carotid arteries. The internal carotid arteries supply oxygen-rich blood to your brain. The external carotid arteries supply oxygen-rich blood to your face, scalp, and neck. Carotid Arteries Carotid artery disease is serious because it can cause a stroke, also called a brain attack. A stroke occurs if blood flow to your brain is cut off. If blood flow is cut off for more than a few minutes, the cells in your brain start to die. This impairs the parts of the body that the brain cells control. A stroke can cause lasting brain damage; long-term disability, such as vision or speech problems or paralysis (an inability to move); or death. Overview Carotid artery disease is a major cause of stroke in the United States. Over time, plaque hardens and narrows the arteries. This may limit the flow of oxygen-rich blood to your organs and other parts of your body. Atherosclerosis can affect any artery in the body. For example, if plaque builds up in the coronary (heart) arteries, a heart attack can occur. If plaque builds up in the carotid arteries, a stroke can occur. A stroke also can occur if blood clots form in the carotid arteries. This can happen if the plaque in an artery cracks or ruptures. Blood cell fragments called platelets (PLATE-lets) stick to the site of the injury and may clump together to form blood clots. Blood clots can partly or fully block a carotid artery. A piece of plaque or a blood clot also can break away from the wall of the carotid artery. The plaque or clot can travel through the bloodstream and get stuck in one of the brain's smaller arteries. This can block blood flow in the artery and cause a stroke. Carotid artery disease may not cause signs or symptoms until the carotid arteries are severely narrowed or blocked. For some people, a stroke is the first sign of the disease. Outlook Carotid artery disease is a major cause of stroke in the United States. Other conditions, such as certain heart problems and bleeding in the brain, also can cause strokes.Lifestyle changes, medicines, and medical procedures can help prevent or treat carotid artery disease and may reduce the risk of stroke. If you think you're having a stroke, you need urgent treatment. Call 911 right away if you have symptoms of a stroke. Do not drive yourself to the hospital.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.

What is (are) Cerebral Arteriosclerosis ?

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. Cerebral 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. Cerebral 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.

What is (are) Encephaloceles ?

Encephaloceles are rare neural tube defects characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull. These defects are caused by failure of the neural tube to close completely during fetal development. The result is a groove down the midline of the upper part of the skull, or the area between the forehead and nose, or the back of the skull. When located in the back of the skull, encephaloceles are often associated with neurological problems. Usually encephaloceles are dramatic deformities diagnosed immediately after birth, but occasionally a small encephalocele in the nasal and forehead region can go undetected. Encephaloceles are often accompanied by craniofacial abnormalities or other brain malformations. Symptoms and associated abnormalities of encephaloceles may include hydrocephalus (excessive accumulation of cerebrospinal fluid in the brain), spastic quadriplegia (paralysis of the arms and legs), microcephaly (abnormally small head), ataxia (uncoordinated movement of the voluntary muscles, such as those involved in walking and reaching), developmental delay, vision problems, mental and growth retardation, and seizures. Some affected children may have normal intelligence. There is a genetic component to the condition; it often occurs in families with a history of spina bifida and anencephaly in family members.

What is (are) Dysautonomia ?

Dysautonomia refers to a disorder of autonomic nervous system (ANS) function that generally involves failure of the sympathetic or parasympathetic components of the ANS, but dysautonomia involving excessive or overactive ANS actions also can occur. Dysautonomia can be local, as in reflex sympathetic dystrophy, or generalized, as in pure autonomic failure. It can be acute and reversible, as in Guillain-Barre syndrome, or chronic and progressive. Several common conditions such as diabetes and alcoholism can include dysautonomia. Dysautonomia also can occur as a primary condition or in association with degenerative neurological diseases such as Parkinson's disease. Other diseases with generalized, primary dysautonomia include multiple system atrophy and familial dysautonomia. Hallmarks of generalized dysautonomia due to sympathetic failure are impotence (in men) and a fall in blood pressure during standing (orthostatic hypotension). Excessive sympathetic activity can present as hypertension or a rapid pulse rate.

What is (are) Split hand split foot malformation autosomal recessive ?

Split hand foot malformation (SHFM) is a type of birth defect that consists of missing digits (fingers and/or toes), a deep cleft down the center of the hand or foot, and fusion of remaining digits. The severity of this condition varies widely among affected individuals. SHFM is sometimes called ectrodactyly; however, this is a nonspecific term used to describe missing digits. SHFM may occur by itself (isolated) or it may be part of a syndrome with abnormalities in other parts of the body. At least six different forms of isolated SHFM have been described. Each type is associated with a different underlying genetic cause. SHFM1 has been linked to chromosome 7, and SHFM2 is linked to the X chromosome. SHFM3 is caused by a duplication of chromosome 10 at position 10q24. Changes (mutations) in the TP63 gene cause SHFM4. SHFM5 is linked to chromosome 2, and SHFM6 is caused by mutations in the WNT10B gene. SHFM may be inherited in an autosomal dominant, autosomal recessive, or X-linked manner.

What is (are) Tracheal agenesis ?

Tracheal agenesis is a rare birth defect in which the trachea (windpipe) is completely absent (agenesis) or significantly underdeveloped (atresia). Signs and symptoms include polyhydramnios during pregnancy and respiratory distress, bluish skin color (cyanosis) and no audible cry shortly after birth. The underlying cause of tracheal agenesis is currently unknown. Approximately 90% of cases are associated with other anomalies, including those of the cardiovascular system, the gastrointestinal system and the genitourinary tract. Some cases may be part of a very rare condition known as VACTERL association. Surgery to repair the trachea may be attempted; however, the long-term outlook is generally poor in most cases.

What is (are) familial idiopathic basal ganglia calcification ?

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.

What is (are) X-linked adrenoleukodystrophy ?

X-linked adrenoleukodystrophy is a genetic disorder that occurs primarily in males. It mainly affects the nervous system and the adrenal glands, which are small glands located on top of each kidney. In this disorder, the fatty covering (myelin) that insulates nerves in the brain and spinal cord is prone to deterioration (demyelination), which reduces the ability of the nerves to relay information to the brain. In addition, damage to the outer layer of the adrenal glands (adrenal cortex) causes a shortage of certain hormones (adrenocortical insufficiency). Adrenocortical insufficiency may cause weakness, weight loss, skin changes, vomiting, and coma. There are three distinct types of X-linked adrenoleukodystrophy: a childhood cerebral form, an adrenomyeloneuropathy type, and a form called Addison disease only. Children with the cerebral form of X-linked adrenoleukodystrophy experience learning and behavioral problems that usually begin between the ages of 4 and 10. Over time the symptoms worsen, and these children may have difficulty reading, writing, understanding speech, and comprehending written material. Additional signs and symptoms of the cerebral form include aggressive behavior, vision problems, difficulty swallowing, poor coordination, and impaired adrenal gland function. The rate at which this disorder progresses is variable but can be extremely rapid, often leading to total disability within a few years. The life expectancy of individuals with this type depends on the severity of the signs and symptoms and how quickly the disorder progresses. Individuals with the cerebral form of X-linked adrenoleukodystrophy usually survive only a few years after symptoms begin but may survive longer with intensive medical support. Signs and symptoms of the adrenomyeloneuropathy type appear between early adulthood and middle age. Affected individuals develop progressive stiffness and weakness in their legs (paraparesis), experience urinary and genital tract disorders, and often show changes in behavior and thinking ability. Most people with the adrenomyeloneuropathy type also have adrenocortical insufficiency. In some severely affected individuals, damage to the brain and nervous system can lead to early death. People with X-linked adrenoleukodystrophy whose only symptom is adrenocortical insufficiency are said to have the Addison disease only form. In these individuals, adrenocortical insufficiency can begin anytime between childhood and adulthood. However, most affected individuals develop the additional features of the adrenomyeloneuropathy type by the time they reach middle age. The life expectancy of individuals with this form depends on the severity of the signs and symptoms, but typically this is the mildest of the three types. Rarely, individuals with X-linked adrenoleukodystrophy develop multiple features of the disorder in adolescence or early adulthood. In addition to adrenocortical insufficiency, these individuals usually have psychiatric disorders and a loss of intellectual function (dementia). It is unclear whether these individuals have a distinct form of the condition or a variation of one of the previously described types. For reasons that are unclear, different forms of X-linked adrenoleukodystrophy can be seen in affected individuals within the same family.

What is (are) alpha thalassemia ?

Alpha thalassemia is a blood disorder that reduces the production of hemoglobin. Hemoglobin is the protein in red blood cells that carries oxygen to cells throughout the body. In people with the characteristic features of alpha thalassemia, a reduction in the amount of hemoglobin prevents enough oxygen from reaching the body's tissues. Affected individuals also have a shortage of red blood cells (anemia), which can cause pale skin, weakness, fatigue, and more serious complications. Two types of alpha thalassemia can cause health problems. The more severe type is known as hemoglobin Bart hydrops fetalis syndrome or Hb Bart syndrome. The milder form is called HbH disease. Hb Bart syndrome is characterized by hydrops fetalis, a condition in which excess fluid builds up in the body before birth. Additional signs and symptoms can include severe anemia, an enlarged liver and spleen (hepatosplenomegaly), heart defects, and abnormalities of the urinary system or genitalia. As a result of these serious health problems, most babies with this condition are stillborn or die soon after birth. Hb Bart syndrome can also cause serious complications for women during pregnancy, including dangerously high blood pressure with swelling (preeclampsia), premature delivery, and abnormal bleeding. HbH disease causes mild to moderate anemia, hepatosplenomegaly, and yellowing of the eyes and skin (jaundice). Some affected individuals also have bone changes such as overgrowth of the upper jaw and an unusually prominent forehead. The features of HbH disease usually appear in early childhood, and affected individuals typically live into adulthood.

What is (are) Neurotoxicity ?

Neurotoxicity occurs when the exposure to natural or manmade toxic substances (neurotoxicants) alters the normal activity of the nervous system. This can eventually disrupt or even kill neurons, key cells that transmit and process signals in the brain and other parts of the nervous system. Neurotoxicity can result from exposure to substances used in chemotherapy, radiation treatment, drug therapies, and organ transplants, as well as exposure to heavy metals such as lead and mercury, certain foods and food additives, pesticides, industrial and/or cleaning solvents, cosmetics, and some naturally occurring substances. Symptoms may appear immediately after exposure or be delayed. They may include limb weakness or numbness; loss of memory, vision, and/or intellect; headache; cognitive and behavioral problems; and sexual dysfunction. Individuals with certain disorders may be especially vulnerable to neurotoxicants.

What is (are) Colorectal Cancer ?

Key Points - Colorectal cancer is a disease in which malignant (cancer) cells form in the tissues of the colon or the rectum. - Colorectal cancer is the second leading cause of death from cancer in the United States. - Different factors increase or decrease the risk of getting colorectal cancer. Colorectal cancer is a disease in which malignant (cancer) cells form in the tissues of the colon or the rectum. The colon and rectum are parts of the body's digestive system. 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 digestive system is made up of the mouth, throat, esophagus, stomach, and the small and large intestines. The colon (large bowel) is the first part of the large intestine and is about 5 feet long. Together, the rectum and anal canal make up the last part of the large intestine and are 6-8 inches long. The anal canal ends at the anus (the opening of the large intestine to the outside of the body). Cancer that begins in the colon is called colon cancer, and cancer that begins in the rectum is called rectal cancer. Cancer that begins in either of these organs may also be called colorectal cancer. See the following PDQ summaries for more information about colorectal cancer: - Colorectal Cancer Prevention - Colon Cancer Treatment - Rectal Cancer Treatment - Genetics of Colorectal Cancer Colorectal cancer is the second leading cause of death from cancer in the United States. The number of new colorectal cancer cases and the number of deaths from colorectal cancer are decreasing a little bit each year. But in adults younger than 50 years, there has been a small increase in the number of new cases each year since 1998. Colorectal cancer is found more often in men than in women.

What is (are) MYH7-related scapuloperoneal myopathy ?

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.

What is (are) Prevent diabetes problems: Keep your nervous system healthy ?

Your nervous system carries signals between your brain and other parts of your body through your spinal cord. Nerves are bundles of special tissues that transmit these signals. The signals share information between your brain and body about how things feel. The signals also send information between your brain and body to control automatic body functions, such as breathing and digestion, and to move your body parts. The nerves in your spinal cord branch out to all of your organs and body parts. All your nerves together make up your nervous system. Your nervous system is composed of the - central nervous systemyour brain and spinal cord - cranial* nervesnerves that connect your brain to your head, neck, and face - peripheral nervous systemnerves that connect your spinal cord to your entire body, including your organs and your arms, hands, legs, and feet *See the Pronunciation Guide for tips on how to say the the words in bold type.

What is (are) Imerslund-Grasbeck syndrome ?

Imerslund-Grasbeck syndrome (IGS) is a rare condition characterized by vitamin B12 deficiency, often causing megaloblastic anemia. IGS usually appears in childhood. Other features may include failure to thrive, infections, and neurological damage. Mild proteinuria (with no signs of kidney disease) is present in about half of affected individuals. IGS is caused by mutations in either the CUBN or AMN gene and is inherited in an autosomal recessive manner. Treatment includes life-long vitamin B12 injections, with which affected individuals can stay healthy for decades.

What is (are) Floating-Harbor syndrome ?

Floating-Harbor syndrome is a genetic disorder that was named for the first two identified patients who were seen at Boston Floating Hospital and Harbor General Hospital in California. The main characteristics of this syndrome are short stature, delayed bone growth, delay in expressive language, and distinct facial features. The exact cause of Floating-Harbor syndrome is not known. Treatment is symptomatic and supportive.

What is (are) West syndrome ?

West syndrome is characterized by a specific type of seizure (infantile spasms) seen in infancy and childhood. This syndrome leads to developmental regression and causes a specific pattern, known as hypsarrhythmia (chaotic brain waves), on electroencephalography (EEG) testing. The infantile spasms usually begin 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 types of seizures. Many underlying disorders, such as birth injury, metabolic disorders, and genetic disorders can lead to these spasms, making it important to identify the underlying cause. In some children, no cause can be found.

What is (are) 15q24 microdeletion ?

15q24 microdeletion is a chromosomal change in which a small piece of chromosome 15 is deleted in each cell. The deletion occurs on the long (q) arm of the chromosome at a position designated q24. 15q24 microdeletion is associated with mild to moderate intellectual disability and delayed speech development. Other common signs and symptoms include short stature, weak muscle tone (hypotonia), and skeletal abnormalities including loose (lax) joints. Affected males may have genital abnormalities, which can include an unusually small penis (micropenis) and the opening of the urethra on the underside of the penis (hypospadias). Affected individuals also have distinctive facial features such as a high front hairline, broad eyebrows, widely set eyes (hypertelorism), outside corners of the eyes that point downward (downslanting palpebral fissures), a broad nasal bridge, a full lower lip, and a long, smooth space between the upper lip and nose (philtrum).

What is (are) Premenstrual Syndrome ?

Premenstrual syndrome, or PMS, is a group of symptoms that start one to two weeks before your period. Most women have at least some symptoms of PMS, and the symptoms go away after their periods start. For some women, the symptoms are severe enough to interfere with their lives. They have a type of PMS called premenstrual dysphoric disorder, or PMDD. Common PMS symptoms include - Breast swelling and tenderness - Acne - Bloating and weight gain - Pain - headache or joint pain - Food cravings - Irritability, mood swings, crying spells, depression No one knows what causes PMS, but hormonal changes trigger the symptoms. No single PMS treatment works for everyone. Over-the-counter pain relievers such as ibuprofen, aspirin or naproxen may help ease cramps, headaches, backaches and breast tenderness. Exercising, getting enough sleep, and avoiding salt, caffeine, and alcohol can also help. Dept. of Health and Human Services Office on Women's Health

Do you have information about Islet Cell Transplantation

Summary : Islets are cells found in clusters throughout the pancreas. They are made up of several types of cells. One of these is beta cells, which make insulin. Insulin is a hormone that helps the body use glucose for energy. Islet cell transplantation transfers cells from an organ donor into the body of another person. It is an experimental treatment for type 1 diabetes. In type 1 diabetes, the beta cells of the pancreas no longer make insulin. A person who has type 1 diabetes must take insulin daily to live. Transplanted islet cells, however, can take over the work of the destroyed cells. The beta cells in these islets will begin to make and release insulin. Researchers hope islet transplantation will help people with type 1 diabetes live without daily insulin injections. NIH: National Institute of Diabetes and Digestive and Kidney Diseases

What is (are) Oropharyngeal Cancer ?

Key Points - Oropharyngeal cancer is a disease in which malignant (cancer) cells form in the tissues of the oropharynx. - Smoking or being infected with human papillomavirus can increase the risk of oropharyngeal cancer. - Signs and symptoms of oropharyngeal cancer include a lump in the neck and a sore throat. - Tests that examine the mouth and throat are used to help detect (find), diagnose, and stage oropharyngeal cancer. - Certain factors affect prognosis (chance of recovery) and treatment options. Oropharyngeal cancer is a disease in which malignant (cancer) cells form in the tissues of the oropharynx. The oropharynx is the middle part of the pharynx (throat), behind the mouth. The pharynx is a hollow tube about 5 inches long that starts behind the nose and ends where the trachea (windpipe) and esophagus (tube from the throat to the stomach) begin. Air and food pass through the pharynx on the way to the trachea or the esophagus. The oropharynx includes the following: - Soft palate. - Side and back walls of the throat. - Tonsils. - Back one-third of the tongue. Oropharyngeal cancer is a type of head and neck cancer. Sometimes more than one cancer can occur in the oropharynx and in other parts of the oral cavity, nose, pharynx, larynx (voice box), trachea, or esophagus at the same time. Most oropharyngeal cancers are squamous cell carcinomas. Squamous cells are the thin, flat cells that line the inside of the oropharynx. See the following PDQ summaries for more information about other types of head and neck cancers: - Hypopharyngeal Cancer Treatment - Lip and Oral Cavity Cancer Treatment - Oral Cavity and Oropharyngeal Cancer Prevention - Oral Cavity and Oropharyngeal Cancer Screening

What is (are) Dry Mouth ?

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.

What is (are) Prosthetic joint infection ?

A prosthetic joint infection (PJI) is a rare complication of joint replacement surgery, also known as arthroplasty. Arthroplasty is done to help relieve pain and restore function in a severely diseased joint, such as a knee, hip or shoulder. Approximately 0.5 to 1 percent of people with replacement joints develop a PJI. Infections can occur early in the course of recovery from joint replacement surgery (within the first two months) or much later. Signs and symptoms of PJI include fever, chills, drainage from the surgical site, and increasing redness, tenderness, swelling and pain of the affected joint. Prosthetic joint infections are often hard to treat because of the development of a structure called a biofilm within the joint. A biofilm develops when bacteria adhere to the solid surface of the artificial joint. The biofilm can act as a kind of shield to some of the bacteria, making it difficult for the bacteria to be found and destroyed by the body's defenses or by antibiotic medications. An infected joint replacement usually requires surgery to remove the artificial parts and potent antibiotics to kill the bacteria.

What is (are) Endocrine Diseases ?

Your endocrine system includes eight major glands throughout your body. These glands make hormones. Hormones are chemical messengers. They travel through your bloodstream to tissues or organs. Hormones work slowly and affect body processes from head to toe. These include - Growth and development - Metabolism - digestion, elimination, breathing, blood circulation and maintaining body temperature - Sexual function - Reproduction - Mood If your hormone levels are too high or too low, you may have a hormone disorder. Hormone diseases also occur if your body does not respond to hormones the way it is supposed to. Stress, infection and changes in your blood's fluid and electrolyte balance can also influence hormone levels. In the United States, the most common endocrine disease is diabetes. There are many others. They are usually treated by controlling how much hormone your body makes. Hormone supplements can help if the problem is too little of a hormone.

What is (are) Carpal Tunnel Syndrome ?

Carpal tunnel syndrome (CTS) occurs when the median nerve, which runs from the forearm into the palm of the hand, becomes pressed or squeezed at the wrist. The carpal tunnel is a narrow, rigid passageway of ligament and bones at the base of the hand that houses the median nerve and the tendons that bend the fingers. The median nerve provides feeling to the palm side of the thumb and to most of the fingers. Symptoms usually start gradually, with numbness, tingling, weakness, and sometimes pain in the hand and wrist. People might have difficulty with tasks such as driving or reading a book. Decreased hand strength may make it difficult to grasp small objects or perform other manual tasks. In some cases no direct cause of the syndrome can be identified. Contributing factors include trauma or injury to the wrist that causes swelling, thyroid disease, rheumatoid arthritis, and fluid retention during pregnancy. Women are three times more likely than men to develop carpal tunnel syndrome. The disorder usually occurs only in adults.

What is (are) LCHAD deficiency ?

LCHAD deficiency, or long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, is a mitochondrial condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). Signs and symptoms typically appear during infancy or early childhood and can include feeding difficulties, lack of energy, low blood sugar (hypoglycemia), weak muscle tone (hypotonia), liver problems, and abnormalities in the retina. Later in childhood, people with this condition may experience muscle pain, breakdown of muscle tissue, and peripheral neuropathy. Individuals with LCHAD deficiency are also at risk for serious heart problems, breathing difficulties, coma, and sudden death. This condition is inherited in an autosomal recessive pattern and is caused by mutations in the HADHA gene.[OMIM]

What is (are) Celiac Disease ?

Celiac disease is an immune disease in which people can't eat gluten because it will damage their small intestine. If you have celiac disease and eat foods with gluten, your immune system responds by damaging the small intestine. Gluten is a protein found in wheat, rye, and barley. It is found mainly in foods but may also be in other products like medicines, vitamins and supplements, lip balm, and even the glue on stamps and envelopes. Celiac disease affects each person differently. Symptoms may occur in the digestive system, or in other parts of the body. One person might have diarrhea and abdominal pain, while another person may be irritable or depressed. Irritability is one of the most common symptoms in children. Some people have no symptoms. Celiac disease is genetic. Blood tests can help your doctor diagnose the disease. Your doctor may also need to examine a small piece of tissue from your small intestine. Treatment is a diet free of gluten. NIH: National Institute of Diabetes and Digestive and Kidney Diseases

What is (are) Beare-Stevenson cutis gyrata syndrome ?

Beare-Stevenson cutis gyrata syndrome is a genetic disorder characterized by skin abnormalities and the premature fusion of certain bones of the skull (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. Many of the characteristic facial features of Beare-Stevenson cutis gyrata syndrome result from the premature fusion of the skull bones. The head is unable to grow normally, which leads to a cloverleaf-shaped skull, wide-set and bulging eyes, ear abnormalities, and an underdeveloped upper jaw. Early fusion of the skull bones also affects the growth of the brain, causing delayed development and intellectual disability. A skin abnormality called cutis gyrata is also characteristic of this disorder. The skin has a furrowed and wrinkled appearance, particularly on the face, near the ears, and on the palms and soles of the feet. Additionally, thick, dark, velvety areas of skin (acanthosis nigricans) are sometimes found on the hands and feet and in the genital region. Additional signs and symptoms of Beare-Stevenson cutis gyrata syndrome can include a blockage of the nasal passages (choanal atresia), overgrowth of the umbilical stump (tissue that normally falls off shortly after birth, leaving the belly button), and abnormalities of the genitalia and anus. The medical complications associated with this condition are often life-threatening in infancy or early childhood.

What is (are) Gout ?

Sudden, Intense Joint Pain Gout is a form of arthritis that causes the sudden onset of intense pain and swelling in the joints, which also may be warm and red. Attacks frequently occur at night and can be triggered by stressful events, alcohol or drugs, or the presence of another illness. Early attacks usually subside within 3 to 10 days, even without treatment, and the next attack may not occur for months or even years. Where Gout Usually Occurs Sometime during the course of the disease, many patients will develop gout in the big toe. Gout frequently affects joints in the lower part of the body such as the ankles, heels, knees, or toes. Who is at Risk? Adult men, particularly those between the ages of 40 and 50, are more likely to develop gout than women, who rarely develop the disease before menstruation ends. A Buildup of Uric Acid Before an attack, needle-like crystals of uric acid build up in connective tissue, in the joint space between two bones, or in both. Uric acid is a substance that results from the breakdown of purines, which are part of all human tissue and are found in many foods. Normally, uric acid is dissolved in the blood and passed through the kidneys into the urine, where it is eliminated. If there is an increase in the production of uric acid or if the kidneys do not eliminate enough uric acid from the body, levels of it build up in the blood (a condition called hyperuricemia). Hyperuricemia also may result when a person eats too many high-purine foods, such as liver, dried beans and peas, anchovies, and gravies. Hyperuricemia is not a disease, and by itself it is not dangerous. However, if too many uric acid crystals form as a result of hyperuricemia, gout can develop. The crystals form and build up in the joint, causing inflammation. Stages of Gout Gout can progress through four stages. Asymptomatic (without symptoms) hyperuricemia. In this stage, a person has elevated levels of uric acid in the blood (hyperuricemia), but no other symptoms. Treatment is usually not required. Acute gout, or acute gouty arthritis. In this stage, hyperuricemia has caused uric acid crystals to build up in joint spaces. This leads to a sudden onset of intense pain and swelling in the joints, which also may be warm and very tender. An acute (sudden) attack commonly occurs at night and can be triggered by stressful events, alcohol or drugs, or the presence of another illness. Attacks usually subside within 3 to 10 days, even without treatment, and the next attack may not occur for months or even years. Over time, however, attacks can last longer and occur more frequently. Interval or intercritical gout. This is the period between acute attacks. In this stage, a person does not have any symptoms. Chronic tophaceous (toe FAY shus) gout. This is the most disabling stage of gout. It usually develops over a long period, such as 10 years. In this stage, the disease may have caused permanent damage to the affected joints and sometimes to the kidneys. With proper treatment, most people with gout do not progress to this advanced stage.

What is (are) Diagnosis of Diabetes and Prediabetes ?

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. Diabetes is a disorder of metabolismthe 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. Insulin is made in the pancreas, an organ located behind the stomach. As the blood glucose level rises after a meal, the pancreas is triggered to release insulin. Within the pancreas, clusters of cells called islets contain beta cells, which make the insulin and release it into the blood. Diabetes develops when the body doesnt make enough insulin or 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. Over time, high blood glucose damages nerves and blood vessels, leading to complications such as heart disease, stroke, kidney disease, blindness, dental disease, and amputations. Other complications of diabetes may include increased susceptibility to other diseases, loss of mobility with aging, depression, and pregnancy problems. Main Types of Diabetes The three main types of diabetes are type 1, type 2, and gestational diabetes: - Type 1 diabetes, formerly called juvenile diabetes, is usually first diagnosed in children, teenagers, and young adults. In this type of diabetes, the beta cells of the pancreas no longer make insulin because the bodys immune system has attacked and destroyed them. - Type 2 diabetes, formerly called adult-onset diabetes, is the most common type of diabetes. About 90 to 95 percent of people with diabetes have type 2.1 People can develop type 2 diabetes at any age, even during childhood, but this type of diabetes is most often associated with older age. Type 2 diabetes is also associated with excess weight, physical inactivity, family history of diabetes, previous history of gestational diabetes, and certain ethnicities. Type 2 diabetes usually begins with insulin resistance, a condition linked to excess weight in which muscle, liver, and fat cells do not use insulin properly. As a result, the body needs more insulin to help glucose enter cells to be used for energy. At first, the pancreas keeps up with the added demand by producing more insulin. But in time, the pancreas loses its ability to produce enough insulin in response to meals, and blood glucose levels rise. - Gestational diabetes is a type of diabetes that develops only during pregnancy. The hormones produced during pregnancy increase the amount of insulin needed to control blood glucose levels. If the body cant meet this increased need for insulin, women can develop gestational diabetes during the late stages of pregnancy. Gestational diabetes usually goes away after the baby is born. Shortly after pregnancy, 5 to 10 percent of women with gestational diabetes continue to have high blood glucose levels and are diagnosed as having diabetes, usually type 2.1 Research has shown that lifestyle changes and the diabetes medication, metformin, can reduce or delay the risk of type 2 diabetes in these women. Babies born to mothers who had gestational diabetes are also more likely to develop obesity and type 2 diabetes as they grow up. More information about gestational diabetes is provided in the NIDDK health topic, What I need to know about Gestational Diabetes,or by calling 18008608747. Other Types of Diabetes Many other types of diabetes exist, and a person can exhibit characteristics of more than one type. For example, in latent autoimmune diabetes in adults, people show signs of both type 1 and type 2 diabetes. Other types of diabetes include those caused by genetic defects, diseases of the pancreas, excess amounts of certain hormones resulting from some medical conditions, medications that reduce insulin action, chemicals that destroy beta cells, infections, rare autoimmune disorders, and genetic syndromes associated with diabetes. More information about other types of diabetes is provided in the NIDDK health topic, Causes of Diabetes, or by calling 18008608747.

What is (are) Cramp-fasciculation syndrome ?

Cramp-fasciculation syndrome (CFS) is a rare condition of the muscles. Affected people have persistent muscle twitching (fasciculations) and cramping, which can lead to muscle discomfort, pain, or tiredness. Muscles in the leg are most commonly affected, although this condition may involve several parts of the body. Symptoms are thought to be due to overactivity of the associated nerves. In most cases, CFS occurs sporadically in people with no family history of the condition. There is limited information about the treatment of CFS, but certain medications have been reported as beneficial in individual cases.

Do you have information about Drug Safety

Summary : In the U.S., the government's Food and Drug Administration (FDA) must approve any drug before it can be sold. This is true whether it's a prescription or an over-the-counter drug. The FDA evaluates the safety of a drug by looking at - Side effects - How it's manufactured - Results of animal testing and clinical trials The FDA also monitors a drug's safety after approval. For you, drug safety means buying online from only legitimate pharmacies and taking your medicines correctly.

What is (are) Thrombocythemia and Thrombocytosis ?

Thrombocythemia (THROM-bo-si-THE-me-ah) and thrombocytosis (THROM-bo-si-TO-sis) are conditions in which your blood has a higher than normal number of platelets (PLATE-lets). Platelets are blood cell fragments. They're made in your bone marrow along with other kinds of blood cells. Platelets travel through your blood vessels and stick together (clot). Clotting helps stop any bleeding that may occur if a blood vessel is damaged. Platelets also are called thrombocytes (THROM-bo-sites) because a blood clot also is called a thrombus. A normal platelet count ranges from 150,000 to 450,000 platelets per microliter of blood. Overview The term "thrombocythemia" is preferred when the cause of a high platelet count isn't known. The condition sometimes is called primary or essential thrombocythemia. This condition occurs if faulty cells in the bone marrow make too many platelets. Bone marrow is the sponge-like tissue inside the bones. It contains stem cells that develop into red blood cells, white blood cells, and platelets. What causes the bone marrow to make too many platelets often isn't known. With primary thrombocythemia, a high platelet count may occur alone or with other blood cell disorders. This condition isn't common. When another disease or condition causes a high platelet count, the term "thrombocytosis" is preferred. This condition often is called secondary or reactive thrombocytosis. Secondary thrombocytosis is more common than primary thrombocythemia. Often, a high platelet count doesn't cause signs or symptoms. Rarely, serious or life-threatening symptoms can develop, such as blood clots and bleeding. These symptoms are more likely to occur in people who have primary thrombocythemia. Outlook People who have primary thrombocythemia with no signs or symptoms don't need treatment, as long as the condition remains stable. Other people who have this condition may need medicines or procedures to treat it. Most people who have primary thrombocythemia will live a normal lifespan. Treatment and outlook for secondary thrombocytosis depend on its underlying cause.

What is (are) Primary Myelofibrosis ?

Key Points - Primary myelofibrosis is a disease in which abnormal blood cells and fibers build up inside the bone marrow. - Symptoms of primary myelofibrosis include pain below the ribs on the left side and feeling very tired. - Certain factors affect prognosis (chance of recovery) and treatment options for primary myelofibrosis. Primary myelofibrosis is a disease in which abnormal blood cells and fibers build up inside the bone marrow. The bone marrow is made of tissues that make blood cells (red blood cells, white blood cells, and platelets) and a web of fibers that support the blood-forming tissues. In primary myelofibrosis (also called chronic idiopathic myelofibrosis), large numbers of blood stem cells become blood cells that do not mature properly (blasts). The web of fibers inside the bone marrow also becomes very thick (like scar tissue) and slows the blood-forming tissues ability to make blood cells. This causes the blood-forming tissues to make fewer and fewer blood cells. In order to make up for the low number of blood cells made in the bone marrow, the liver and spleen begin to make the blood cells.

What is (are) Encephalopathy ?

Encephalopathy is a term for any diffuse disease of the brain that alters brain function or structure. Encephalopathy may be caused by infectious agent (bacteria, virus, or prion), metabolic or mitochondrial dysfunction, brain tumor or increased pressure in the skull, prolonged exposure to toxic elements (including solvents, drugs, radiation, paints, industrial chemicals, and certain metals), chronic progressive trauma, poor nutrition, or lack of oxygen or blood flow to the brain. The hallmark of encephalopathy is an altered mental state. Depending on the type and severity of encephalopathy, common neurological symptoms are progressive loss of memory and cognitive ability, subtle personality changes, inability to concentrate, lethargy, and progressive loss of consciousness. Other neurological symptoms may include myoclonus (involuntary twitching of a muscle or group of muscles), nystagmus (rapid, involuntary eye movement), tremor, muscle atrophy and weakness, dementia, seizures, and loss of ability to swallow or speak. Blood tests, spinal fluid examination, imaging studies, electroencephalograms, and similar diagnostic studies may be used to differentiate the various causes of encephalopathy.

What is (are) 2-methyl-3-hydroxybutyric aciduria ?

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.

What is (are) Blount disease ?

Blount disease is characterized by progressive bowing of the legs in infancy, early childhood, or adolescence. While it is not uncommon for young children to have bowed legs, typically the bowing improves with age. Blount disease is a condition that results from abnormal growth in the upper part of the shin bone (tibia) and requires treatment for improvement to occur. Treatment may involve bracing and/or surgery. Other causes for Blount disease in young children includes metabolic disease and rickets. Blount disease in teens typically occurs in youth who are overweight. In teens surgery is often required to correct the problem.

What is (are) Acromegaly ?

Acromegaly is a hormonal disorder that results from the pituitary gland producing too much growth hormone (GH). It is most often diagnosed in middle-aged adults, although symptoms can appear at any age. Signs and symptoms include abnormal growth and swelling of the hands and feet; bone changes that alter various facial features; arthritis; carpal tunnel syndrome; enlargement of body organs; and various other symptoms. The condition is usually caused by benign tumors on the pituitary called adenomas. Rarely, it is caused by tumors of the pancreas, lungs, and other parts of the brain. Acromegaly is usually treatable but when left untreated, it can result in serious illness and premature death. When GH-producing tumors occur in childhood, the disease that results is called gigantism rather than acromegaly.

What is (are) adenylosuccinate lyase deficiency ?

Adenylosuccinate lyase deficiency is a neurological disorder that causes brain dysfunction (encephalopathy) leading to delayed development of mental and movement abilities (psychomotor delay), autistic behaviors that affect communication and social interaction, and seizures. A characteristic feature that can help with diagnosis of this condition is the presence of chemicals called succinylaminoimidazole carboxamide riboside (SAICAr) and succinyladenosine (S-Ado) in body fluids. Adenylosuccinate lyase deficiency is classified into three forms based on the severity of the signs and symptoms. The most severe is the neonatal form. Signs and symptoms of this form can be detected at or before birth and can include impaired growth during fetal development and a small head size (microcephaly). Affected newborns have severe encephalopathy, which leads to a lack of movement, difficulty feeding, and life-threatening respiratory problems. Some affected babies develop seizures that do not improve with treatment. Because of the severity of the encephalopathy, infants with this form of the condition generally do not survive more than a few weeks after birth. Adenylosuccinate lyase deficiency type I (also known as the severe form) is the most common. The signs and symptoms of this form begin in the first months of life. Affected babies have severe psychomotor delay, weak muscle tone (hypotonia), and microcephaly. Many affected infants develop recurrent seizures that are difficult to treat, and some exhibit autistic behaviors, such as repetitive behaviors and a lack of eye contact. In individuals with adenylosuccinate lyase deficiency type II (also known as the moderate or mild form), development is typically normal for the first few years of life but then slows. Psychomotor delay is considered mild or moderate. Some children with this form of the condition develop seizures and autistic behaviors.

What is (are) Histoplasmosis ?

Histoplasmosis is a disease caused by a fungus (or mold) called Histoplasma. The fungus is common in the eastern and central United States. It grows in soil and material contaminated with bat or bird droppings. You get infected by breathing the fungal spores. You cannot get the infection from someone else. Histoplasmosis is often mild, with no symptoms. If you do get sick, it usually affects your lungs. Symptoms include feeling ill, fever, chest pains, and a dry cough. In severe cases, histoplasmosis spreads to other organs. This is called disseminated disease. It is more common in infants, young children, seniors, and people with immune system problems. Your doctor might do a variety of tests to make the diagnosis, including a chest x-ray, CT scan of the lungs, or examining blood, urine, or tissues for signs of the fungus. Mild cases usually get better without treatment. Treatment of severe or chronic cases is with antifungal drugs. Centers for Disease Control and Prevention

What is (are) 7q11.23 duplication syndrome ?

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.

What is (are) Bruises ?

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.

What is (are) Fetal hydantoin syndrome ?

Fetal hydantoin syndrome is a disorder that is caused by exposure of a fetus to phenytoin, a drug commonly prescribed for epilepsy. Not all infants exposed to phenytoin will be affected with the disorder. Symptoms in affected individuals may include abnormalities of the skull and facial features, growth deficiencies, underdeveloped nails of the fingers and toes, and/or mild developmental delays. Other findings occasionally associated with this syndrome include cleft lip and palate, having an abnormally small head (microcephaly) and brain malformations with more significant developmental delays. Treatment may include surgery for cleft lip and palate and special education and related services for children with learning delays. Other treatment is symptomatic and supportive.

What is (are) Septo-Optic Dysplasia ?

Septo-optic dysplasia (SOD) is a rare disorder characterized by abnormal development of the optic disk, pituitary deficiencies, and often agenesis (absence) of the septum pellucidum (the part of the brain that separates the anterior horns or the lateral ventricles of the brain). Symptoms may include blindness in one or both eyes, pupil dilation in response to light, nystagmus (a rapid, involuntary to-and-fro movement of the eyes), inward and outward deviation of the eyes, hypotonia (low muscle tone), and hormonal problems. Seizures may also occur. In a few cases, jaundice (prolonged yellow skin discoloration) may occur at birth. Intellectual problems vary in severity among individuals. While some children with SOD have normal intelligence, others have learning disabilities. Most, however, are developmentally delayed due to vision impairment or neurological problems.

What is (are) Hennekam syndrome ?

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.

What is (are) congenital cataracts, facial dysmorphism, and neuropathy ?

Congenital cataracts, facial dysmorphism, and neuropathy (CCFDN) is a rare disorder that affects several parts of the body. It is characterized by a clouding of the lens of the eyes at birth (congenital cataracts) and other eye abnormalities, such as small or poorly developed eyes (microphthalmia) and abnormal eye movements (nystagmus). Affected individuals, particularly males, often have distinctive facial features that become more apparent as they reach adulthood. These features include a prominent midface, a large nose, protruding teeth, and a small lower jaw. CCFDN causes progressive damage to the peripheral nerves, which connect the brain and spinal cord to muscles and sensory cells. This nerve damage is known as peripheral neuropathy. Weakness in the legs, followed by the arms, begins in the first few years of life, and as a result children with CCFDN have delayed development of motor skills such as standing and walking. In adolescence, affected individuals develop sensory abnormalities such as numbness and tingling, mainly in the legs. By adulthood they typically have significant difficulties with mobility. Muscle weakness can also lead to skeletal abnormalities such as hand and foot deformities and abnormal curvature of the spine. People with CCFDN may have problems with balance and coordination (ataxia), tremors, and difficulty with movements that involve judging distance or scale (dysmetria). Some have mild intellectual disability. Individuals with CCFDN have short stature, are typically underweight, and have reduced bone density. A complication called rhabdomyolysis occurs in some people with CCFDN, typically following a viral infection or, in rare cases, during or after surgery. Rhabdomyolysis is a breakdown of muscle tissue that results in severe muscle weakness. The destruction of muscle tissue releases a protein called myoglobin, which is processed by the kidneys and released in the urine (myoglobinuria). The presence of myoglobin causes the urine to be red or brown. The muscles may take up to a year to recover, and the episodes may worsen the muscle weakness caused by the neuropathy.

Do you have information about Teen Mental Health

Summary : Being a teenager is hard. You're under stress to be liked, do well in school, get along with your family, and make big decisions. You can't avoid most of these pressures, and worrying about them is normal. But feeling very sad, hopeless or worthless could be warning signs of a mental health problem. Mental health problems are real, painful, and sometimes severe. You might need help if you have the signs mentioned above, or if you - Often feel very angry or very worried - Feel grief for a long time after a loss or death - Think your mind is controlled or out of control - Use alcohol or drugs - Exercise, diet and/or binge-eat obsessively - Hurt other people or destroy property - Do reckless things that could harm you or others Mental health problems can be treated. To find help, talk to your parents, school counselor, or health care provider.

What is (are) Robinow syndrome ?

Robinow syndrome is a rare disorder that affects the bones as well as other parts of the body. Two forms of Robinow syndrome have been described: autosomal recessive Robinow syndrome, and the milder autosomal dominant Robinow syndrome. They are distinguished based on their modes of inheritance, symptoms, and severity. Autosomal recessive Robinow syndrome causes shortening of the long bones in the arms and legs; short fingers and toes; wedge-shaped spinal bones leading to kyphoscoliosis; fused or missing ribs; short stature; and distinctive facial features. Other features may include underdeveloped genitalia; dental problems; kidney or heart defects; or delayed development. This form is caused by mutations in the ROR2 gene. Autosomal dominant Robinow syndrome causes more mild, but similar, features. There are rarely spine and rib abnormalities, and short stature is less severe. A variant type of this form is additionally characterized by osteosclerosis. Autosomal dominant Robinow syndrome may be caused by a mutation in the WNT5A or DVL1 gene. In some cases, the underlying cause of Robinow syndrome is unknown. Management may include bracing or surgery for skeletal abnormalities and growth hormone to increase growth rate in affected children.

What is (are) X-linked severe combined immunodeficiency ?

X-linked severe combined immunodeficiency (SCID) is an inherited disorder of the immune system that occurs almost exclusively in males. Boys with X-linked SCID are prone to recurrent and persistent infections because they lack the necessary immune cells to fight off certain bacteria, viruses, and fungi. Many infants with X-linked SCID develop chronic diarrhea, a fungal infection called thrush, and skin rashes. Affected individuals also grow more slowly than other children. Without treatment, males with X-linked SCID usually do not live beyond infancy.

What is (are) Immune System and Disorders ?

Your immune system is a complex network of cells, tissues, and organs that work together to defend against germs. It helps your body to recognize these "foreign" invaders. Then its job is to keep them out, or if it can't, to find and destroy them. If your immune system cannot do its job, the results can be serious. Disorders of the immune system include - Allergy and asthma - immune responses to substances that are usually not harmful - Immune deficiency diseases - disorders in which the immune system is missing one or more of its parts - Autoimmune diseases - diseases causing your immune system to attack your own body's cells and tissues by mistake NIH: National Institute of Allergy and Infectious Diseases

What is (are) Skin Cancer ?

When the cancer spreads from its original tumor location in the skin to another part of the body such as the brain, it is called metastatic skin cancer. It is not the same as a cancer that started in the brain (brain cancer). Doctors sometimes call this "distant" disease.

What is (are) multiple epiphyseal dysplasia ?

Multiple epiphyseal dysplasia is a disorder of cartilage and bone development primarily affecting the ends of the long bones in the arms and legs (epiphyses). There are two types of multiple epiphyseal dysplasia, which can be distinguished by their pattern of inheritance. Both the dominant and recessive types have relatively mild signs and symptoms, including joint pain that most commonly affects the hips and knees, early-onset arthritis, and a waddling walk. Although some people with multiple epiphyseal dysplasia have mild short stature as adults, most are of normal height. The majority of individuals are diagnosed during childhood; however, some mild cases may not be diagnosed until adulthood. Recessive multiple epiphyseal dysplasia is distinguished from the dominant type by malformations of the hands, feet, and knees and abnormal curvature of the spine (scoliosis). About 50 percent of individuals with recessive multiple epiphyseal dysplasia are born with at least one abnormal feature, including an inward- and upward-turning foot (clubfoot), an opening in the roof of the mouth (cleft palate), an unusual curving of the fingers or toes (clinodactyly), or ear swelling. An abnormality of the kneecap called a double-layered patella is also relatively common.

Do you have information about Stroke Rehabilitation

Summary : A stroke can cause lasting brain damage. People who survive a stroke need to relearn skills they lose because of the damage. Rehabilitation can help them relearn those skills. Stroke can cause five types of disabilities: - Paralysis or problems controlling movement - Pain and other problems with the senses - Problems using or understanding language - Problems with thinking and memory - Emotional disturbances Stroke rehabilitation involves many kinds of health professionals. The goal is to help survivors become as independent as possible and to have the best possible quality of life. NIH: National Institute of Neurological Disorders and Stroke

What is (are) Froelich syndrome ?

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.

What is (are) Charcot-Marie-Tooth disease ?

Charcot-Marie-Tooth disease is a group of progressive disorders that affect the peripheral nerves. Peripheral nerves connect the brain and spinal cord to muscles and to sensory cells that detect sensations such as touch, pain, heat, and sound. Damage to the peripheral nerves can result in loss of sensation and wasting (atrophy) of muscles in the feet, legs, and hands. Charcot-Marie-Tooth disease usually becomes apparent in adolescence or early adulthood, but onset may occur anytime from early childhood through late adulthood. Symptoms of Charcot-Marie-Tooth disease vary in severity, even among members of the same family. Some people never realize they have the disorder, but most have a moderate amount of physical disability. A small percentage of people experience severe weakness or other problems which, in rare cases, can be life-threatening. In most affected individuals, however, Charcot-Marie-Tooth disease does not affect life expectancy. Typically, the earliest symptoms of Charcot-Marie-Tooth disease involve balance difficulties, clumsiness, and muscle weakness in the feet. Affected individuals may have foot abnormalities such as high arches (pes cavus), flat feet (pes planus), or curled toes (hammer toes). They often have difficulty flexing the foot or walking on the heel of the foot. These difficulties may cause a higher than normal step (or gait) and increase the risk of ankle injuries and tripping. As the disease progresses, muscles in the lower legs usually weaken, but leg and foot problems rarely require the use of a wheelchair. Affected individuals may also develop weakness in the hands, causing difficulty with daily activities such as writing, fastening buttons, and turning doorknobs. People with this disorder typically experience a decreased sensitivity to touch, heat, and cold in the feet and lower legs, but occasionally feel aching or burning sensations. In some cases, affected individuals experience gradual hearing loss, deafness, or loss of vision. There are several types of Charcot-Marie-Tooth disease. Type 1 Charcot-Marie-Tooth disease (CMT1) is characterized by abnormalities in myelin, the fatty substance that covers nerve cells, protecting them and helping to conduct nerve impulses. These abnormalities slow the transmission of nerve impulses. Type 2 Charcot-Marie-Tooth disease (CMT2) is characterized by abnormalities in the fiber, or axon, that extends from a nerve cell body and transmits nerve impulses. These abnormalities reduce the strength of the nerve impulse. Type 4 Charcot-Marie-Tooth disease (CMT4) affects either the axon or myelin and is distinguished from the other types by its pattern of inheritance. In intermediate forms of Charcot-Marie-Tooth disease, the nerve impulses are both slowed and reduced in strength, probably due to abnormalities in both axons and myelin. Type X Charcot-Marie-Tooth disease (CMTX) is caused by mutations in a gene on the X chromosome, one of the two sex chromosomes. Within the various types of Charcot-Marie-Tooth disease, subtypes (such as CMT1A, CMT1B, CMT2A, CMT4A, and CMTX1) are distinguished by the specific gene that is altered. Sometimes other, more historical names are used to describe this disorder. For example, Roussy-Levy syndrome is a form of Charcot-Marie-Tooth disease defined by the additional feature of rhythmic shaking (tremors). Dejerine-Sottas syndrome is a term sometimes used to describe a severe, early childhood form of Charcot-Marie-Tooth disease; it is also sometimes called Charcot-Marie-Tooth disease type 3 (CMT3). Depending on the specific gene that is altered, this severe, early onset form of the disorder may also be classified as CMT1 or CMT4. CMTX5 is also known as Rosenberg-Chutorian syndrome. Some researchers believe that this condition is not actually a form of Charcot-Marie-Tooth disease. Instead, they classify it as a separate disorder characterized by peripheral nerve problems, deafness, and vision loss.

What is (are) Prader-Willi syndrome ?

Prader-Willi syndrome (PWS) is a genetic condition that affects many parts of the body. Infants with PWS have severe hypotonia (low muscle tone), feeding difficulties, and slow growth. In later infancy or early childhood, affected children typically begin to eat excessively and become obese. Other signs and symptoms often include short stature, hypogonadism, developmental delays, cognitive impairment, and distinctive behavioral characteristics such as temper tantrums, stubbornness, and obsessive-compulsive tendencies. PWS is caused by missing or non-working genes on chromosome 15. Most cases are not inherited and occur randomly. Rarely, a genetic change responsible for PWS can be inherited. Management of PWS generally depends on the affected person's age and symptoms.

What is (are) Moles ?

Moles are growths on the skin. They happen when pigment cells in the skin, called melanocytes, grow in clusters. Moles are very common. Most people have between 10 and 40 moles. A person may develop new moles from time to time, usually until about age 40. In older people, they tend to fade away. Moles are usually pink, tan or brown. They can be flat or raised. They are usually round or oval and no larger than a pencil eraser. About one out of every ten people has at least one unusual (or atypical) mole that looks different from an ordinary mole. They are called dysplastic nevi. They may be more likely than ordinary moles to develop into melanoma, a type of skin cancer. You should have a health care professional check your moles if they look unusual, grow larger, change in color or outline, or in any other way. NIH: National Cancer Institute

What is (are) Infantile-onset ascending hereditary spastic paralysis ?

Infantile-onset ascending hereditary spastic paralysis is a motor neuron disease characterized by progressive weakness and stiffness of muscles in the arms, legs, and face. Initial symptoms usually occur within the first 2 years of life and include weakness of the legs, leg muscles that are abnormally tight and stiff, and eventual paralysis of the legs. Over time, muscle weakness and stiffness travels up (ascends) the body from the legs to the head. Infantile-onset ascending hereditary spastic paralysisis caused by mutations in the ALS2 gene, and this condition is inherited in an autosomal recessive pattern.

What is (are) Sacrococcygeal Teratoma ?

A sacrococcygeal teratoma is a tumor that grows at the base of the spine in a developing fetus. It occurs in one in 40,000 newborns and girls are four times more likely to be affected than boys. Though it is usually benign, there is a possibility that the teratoma could become malignant. As such, the recommended treatment of a teratoma is complete removal of the tumor by surgery, performed soon after the birth. If not all of the tumor is removed during the initial surgery, the teratoma may grow back (recur) and additional surgeries may be needed. Studies have found that sacrococcygeal teratomas recur in up to 22% of cases.

What is (are) Smallpox ?

Smallpox is a disease caused by the Variola major virus. Some experts say that over the centuries it has killed more people than all other infectious diseases combined. Worldwide immunization stopped the spread of smallpox three decades ago. The last case was reported in 1977. Two research labs still keep small amounts of the virus. Experts fear bioterrorists could use the virus to spread disease. Smallpox spreads very easily from person to person. Symptoms are flu-like. They include - High fever - Fatigue - Headache - Backache - A rash with flat red sores There is no treatment. Fluids and medicines for pain or fever can help control symptoms. Most people recover, but some can die. Those who do recover may have severe scars. The U.S. stopped routine smallpox vaccinations in 1972. Military and other high-risk groups continue to get the vaccine. The U.S. has increased its supply of the vaccine in recent years. The vaccine makes some people sick, so doctors save it for those at highest risk of disease. NIH: National Institute of Allergy and Infectious Diseases

What is (are) Low Vision ?

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.

What is (are) Hypopharyngeal Cancer ?

Key Points - 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. Hypopharyngeal cancer is a disease in which malignant (cancer) cells form in the tissues of the hypopharynx. 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.

What is (are) Inhalation Injuries ?

There are a variety of substances you can inhale that can cause acute internal injuries. Particles in the air from fires and toxic fumes can damage your eyes and respiratory system. They also can make chronic heart and lung diseases worse. Symptoms of acute inhalation injuries may include - Coughing and phlegm - A scratchy throat - Irritated sinuses - Shortness of breath - Chest pain or tightness - Headaches - Stinging eyes - A runny nose - If you already have asthma, it may get worse. The best way to prevent inhalation injuries is to limit your exposure. If you smell or see smoke, or know that fires are nearby, you should leave the area if you are at greater risk from breathing smoke. Environmental Protection Agency

What is (are) Medicare and Continuing Care ?

Home health care is short-term skilled care at home after hospitalization or for the treatment of an illness or injury. Home health agencies provide home care services, including skilled nursing care, physical therapy, occupational therapy, speech therapy, medical social work, and care by home health aides. Home health services may also include durable medical equipment, such as wheelchairs, hospital beds, oxygen, and walkers, and medical supplies for use at home.

What is (are) Colon Cancer ?

Key Points - Colon cancer is a disease in which malignant (cancer) cells form in the tissues of the colon. - Health history affects the risk of developing colon cancer. - Signs of colon cancer include blood in the stool or a change in bowel habits. - Tests that examine the colon and rectum are used to detect (find) and diagnose colon cancer. - Certain factors affect prognosis (chance of recovery) and treatment options. Colon cancer is a disease in which malignant (cancer) cells form in the tissues of the colon. The colon is part of the bodys digestive system. 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 digestive system is made up of the esophagus, stomach, and the small and large intestines. The colon (large bowel) is the first part of the large intestine and is about 5 feet long. Together, the rectum and anal canal make up the last part of the large intestine and are about 6-8 inches long. The anal canal ends at the anus (the opening of the large intestine to the outside of the body). Gastrointestinal stromal tumors can occur in the colon. See the PDQ summary on Gastrointestinal Stromal Tumors Treatment for more information. See the PDQ summary about Unusual Cancers of Childhood Treatment for information about colorectal cancer in children.

What is (are) Mnire's disease ?

Mnire's disease is an abnormality of the inner ear. Signs and symptoms may include disabling vertigo or severe dizziness lasting from minutes to hours; tinnitus or a roaring sound in the ears; fluctuating hearing loss; and the sensation of pressure or pain in the affected ear. A small percentage of people have drop attacks, also called spells of Tumarkin. The disorder usually affects only one ear and is a common cause of hearing loss. Some people develop symptoms in both ears many years after their initial diagnosis. The exact cause of Mnire's disease is unknown, but the symptoms are thought to be associated with a change in fluid volume within a portion of the inner ear known as the labyrinth. Treatment may include medications or surgery depending on the severity of the condition.

What is (are) giant congenital melanocytic nevus ?

Giant congenital melanocytic nevus is a skin condition characterized by an abnormally dark, noncancerous skin patch (nevus) that is composed of pigment-producing cells called melanocytes. It is present from birth (congenital) or is noticeable soon after birth. The nevus may be small in infants, but it will usually grow at the same rate the body grows and will eventually be at least 40 cm (15.75 inches) across. The nevus can appear anywhere on the body, but it is more often found on the trunk or limbs. The color ranges from tan to black and can become darker or lighter over time. The surface of a nevus can be flat, rough, raised, thickened, or bumpy; the surface can vary in different regions of the nevus, and it can change over time. The skin of the nevus is often dry and prone to irritation and itching (dermatitis). Excessive hair growth (hypertrichosis) can occur within the nevus. There is often less fat tissue under the skin of the nevus; the skin may appear thinner there than over other areas of the body. People with giant congenital melanocytic nevus may have more than one nevus (plural: nevi). The other nevi are often smaller than the giant nevus. Affected individuals may have one or two additional nevi or multiple small nevi that are scattered over the skin; these are known as satellite or disseminated nevi. Affected individuals may feel anxiety or emotional stress due to the impact the nevus may have on their appearance and their health. Children with giant congenital melanocytic nevus can develop emotional or behavior problems. Some people with giant congenital melanocytic nevus develop a condition called neurocutaneous melanosis, which is the presence of pigment-producing skin cells (melanocytes) in the tissue that covers the brain and spinal cord. These melanocytes may be spread out or grouped together in clusters. Their growth can cause increased pressure in the brain, leading to headache, vomiting, irritability, seizures, and movement problems. Tumors in the brain may also develop. Individuals with giant congenital melanocytic nevus have an increased risk of developing an aggressive form of cancer called melanoma, which arises from melanocytes. Estimates vary, but it is generally thought that people with giant congenital melanocytic nevus have a 5 to 10 percent lifetime risk of developing melanoma. Melanoma commonly begins in the nevus, but it can develop when melanocytes that invade other tissues, such as those in the brain and spinal cord, become cancerous. When melanoma occurs in people with giant congenital melanocytic nevus, the survival rate is low. Other types of tumors can also develop in individuals with giant congenital melanocytic nevus, including soft tissue tumors (sarcomas), fatty tumors (lipomas), and tumors of the nerve cells (schwannomas).

What is (are) Patent Ductus Arteriosus ?

Patent ductus arteriosus (PDA) is a heart problem that occurs soon after birth in some babies. In PDA, abnormal blood flow occurs between two of the major arteries connected to the heart. Before birth, the two major arteriesthe aorta and the pulmonary (PULL-mun-ary) arteryare connected by a blood vessel called the ductus arteriosus. This vessel is an essential part of fetal blood circulation. Within minutes or up to a few days after birth, the vessel is supposed to close as part of the normal changes occurring in the baby's circulation. In some babies, however, the ductus arteriosus remains open (patent). This opening allows oxygen-rich blood from the aorta to mix with oxygen-poor blood from the pulmonary artery. This can put strain on the heart and increase blood pressure in the lung arteries. Normal Heart and Heart With Patent Ductus Arteriosus Go to the "How the Heart Works" section of this article for more details about how a normal heart works compared with a heart that has PDA. Overview PDA is a type of congenital (kon-JEN-ih-tal) heart defect. A congenital heart defect is any type of heart problem that's present at birth. If your baby has a PDA but an otherwise normal heart, the PDA may shrink and go away. However, some children need treatment to close their PDAs. Some children who have PDAs are given medicine to keep the ductus arteriosus open. For example, this may be done if a child is born with another heart defect that decreases blood flow to the lungs or the rest of the body. Keeping the PDA open helps maintain blood flow and oxygen levels until doctors can do surgery to correct the other heart defect. Outlook PDA is a fairly common congenital heart defect in the United States. Although the condition can affect full-term infants, it's more common in premature infants. On average, PDA occurs in about 8 out of every 1,000 premature babies, compared with 2out of every 1,000 full-term babies. Premature babies also are more vulnerable to the effects of PDA. PDA is twice as common in girls as it is in boys. Doctors treat the condition with medicines, catheter-based procedures, and surgery. Most children who have PDAs live healthy, normal lives after treatment.

What is (are) Miller-Dieker syndrome ?

Miller-Dieker syndrome is a genetic condition characterized by lissencephaly, typical facial features, and severe neurologic abnormalities. Symptoms may include severe intellectual disability, developmental delay, seizures, muscle stiffness, weak muscle tone and feeding difficulties. Miller-Dieker syndrome is caused by a deletion of genetic material near the end of the short (p) arm of chromosome 17. Treatment is symptomatic and supportive.

What is (are) Myoclonus ?

Myoclonus refers to a sudden, involuntary jerking of a muscle or group of muscles. In its simplest form, myoclonus consists of a muscle twitch followed by relaxation. A hiccup is an example of this type of myoclonus. Other familiar examples of myoclonus are the jerks or "sleep starts" that some people experience while drifting off to sleep. These simple forms of myoclonus occur in normal, healthy persons and cause no difficulties. When more widespread, myoclonus may involve persistent, shock-like contractions in a group of muscles. Myoclonic jerking may develop in people with multiple sclerosis, Parkinson's disease, Alzheimer's disease, or Creutzfeldt-Jakob disease. Myoclonic jerks commonly occur in persons with epilepsy, a disorder in which the electrical activity in the brain becomes disordered and leads to seizures. Myoclonus may develop in response to infection, head or spinal cord injury, stroke, brain tumors, kidney or liver failure, lipid storage disease, chemical or drug poisoning, or other disorders. It can occur by itself, but most often it is one of several symptoms associated with a wide variety of nervous system disorders.

What is (are) Tyrosinemia type 3 ?

Tyrosinemia type 3 is a genetic disorder characterized by elevated blood levels of the amino acid tyrosine, a building block of most proteins. This condition is caused by a deficiency of the enzyme 4-hydroxyphenylpyruvate dioxygenase, one of the enzymes required for the multi-step process that breaks down tyrosine. This enzyme shortage is caused by mutations in the HPD gene. Characteristic features include intellectual disability, seizures, and periodic loss of balance and coordination (intermittent ataxia). Tyrosinemia type 3 is inherited in an autosomal recessive manner.

Do you have information about Liver Transplantation

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

What is (are) Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids ?

Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS) is an inflammatory disease of the central nervous system. The main symptoms of CLIPPERS include double vision, nystagmus, uncoordinated movement (ataxia) and facial numbness or tingling. This condition can be treated by suppressing the immune system with steroids.

What is (are) Olivopontocerebellar atrophy ?

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.

What is (are) Wolfram syndrome ?

Wolfram syndrome, which is also known by the acronym DIDMOAD, is an inherited condition characterized by diabetes insipidus (DI), childhood-onset diabetes mellitus (DM), a gradual loss of vision caused by optic atrophy (OA), and deafness (D). There are two types of Wolfram syndrome (type 1 and type 2) which are primarily differentiated by their genetic cause. Type 1 is caused by changes (mutations) in the WFS1 gene, while type 2 is caused by mutations in the CISD2 gene. Both forms are inherited in an autosomal recessive manner. Treatment is symptomatic and supportive.

What is (are) GRACILE syndrome ?

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.

What is (are) Cri du chat syndrome ?

Cri du chat syndrome, also known as 5p- (5p minus) syndrome or cat cry syndrome, is a genetic condition that is caused by the deletion of genetic material on the small arm (the p arm) of chromosome 5. 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, low birth weight, weak muscle tone in infancy, and distinctive facial features. While cri du chat syndrome is a genetic condition, most cases are not inherited.

What is (are) congenital fibrosis of the extraocular muscles ?

Congenital fibrosis of the extraocular muscles is a disorder that affects the muscles that surround the eyes. These muscles control eye movement and the position of the eyes (for example, looking straight ahead). Congenital fibrosis of the extraocular muscles prevents the normal development and function of these muscles. As a result, affected individuals are unable to move their eyes normally. Most people with this condition have difficulty looking upward, and their side-to-side eye movement may also be limited. The eyes may be misaligned such that they look in different directions (strabismus). Instead of moving their eyes, affected individuals may need to turn their head to track moving objects. Additionally, many people with congenital fibrosis of the extraocular muscles have droopy eyelids (ptosis), which further limits their vision. Researchers have identified at least four forms of congenital fibrosis of the extraocular muscles, designated CFEOM1, CFEOM2, CFEOM3, and Tukel syndrome. The specific problems with eye movement vary among the types. Tukel syndrome is characterized by missing fingers (oligodactyly) and other hand abnormalities in addition to problems with eye movement.

What is (are) Urinary Incontinence ?

Urinary incontinence (UI) is loss of bladder control. Symptoms can range from mild leaking to uncontrollable wetting. It can happen to anyone, but it becomes more common with age. Women experience UI twice as often as men. Most bladder control problems happen when muscles are too weak or too active. If the muscles that keep your bladder closed are weak, you may have accidents when you sneeze, laugh or lift a heavy object. This is stress incontinence. If bladder muscles become too active, you may feel a strong urge to go to the bathroom when you have little urine in your bladder. This is urge incontinence or overactive bladder. There are other causes of incontinence, such as prostate problems and nerve damage. Treatment depends on the type of problem you have and what best fits your lifestyle. It may include simple exercises, medicines, special devices or procedures prescribed by your doctor, or surgery. NIH: National Institute of Diabetes and Digestive and Kidney Diseases

What is (are) Chronic Myelogenous Leukemia ?

Chronic myelogenous leukemia is a disease in which too many white blood cells are made in the bone marrow. See the PDQ summary on Chronic Myelogenous Leukemia Treatment for information on diagnosis, staging, and treatment.

What is (are) epidermal nevus ?

An epidermal nevus (plural: nevi) is an abnormal, noncancerous (benign) patch of skin caused by an overgrowth of skin cells. Epidermal nevi are typically seen at birth or develop in early childhood. They can be flat, tan patches of skin or raised, velvety patches. As the affected individual ages, the nevus can become thicker and darker and develop a wart-like (verrucous) appearance. Often, epidermal nevi follow a pattern on the skin known as the lines of Blaschko. The lines of Blaschko, which are invisible on skin, are thought to follow the paths along which cells migrate as the skin develops before birth. There are several types of epidermal nevi that are defined in part by the type of skin cell involved. The epidermis is the outermost layer of skin and is composed primarily of a specific cell type called a keratinocyte. One group of epidermal nevi, called keratinocytic or nonorganoid epidermal nevi, includes nevi that involve only keratinocytes. Other types of epidermal nevi involve additional types of epidermal cells, such as the cells that make up the hair follicles or the sebaceous glands (glands in the skin that produce a substance that protects the skin and hair). These nevi comprise a group called organoid epidermal nevi. Some affected individuals have only an epidermal nevus and no other abnormalities. However, sometimes people with an epidermal nevus also have problems in other body systems, such as the brain, eyes, or bones. In these cases, the affected individual has a condition called an epidermal nevus syndrome. There are several different epidermal nevus syndromes characterized by the type of epidermal nevus involved.

What is (are) Complex Regional Pain Syndrome ?

Complex regional pain syndrome (CRPS) is a chronic pain condition. It causes intense pain, usually in the arms, hands, legs, or feet. It may happen after an injury, either to a nerve or to tissue in the affected area. Rest and time may only make it worse. Symptoms in the affected area are - Dramatic changes in skin temperature, color, or texture - Intense burning pain - Extreme skin sensitivity - Swelling and stiffness in affected joints - Decreased ability to move the affected body part The cause of CRPS is unknown. There is no specific diagnostic test. Your doctor will diagnose CRPS based on your signs and symptoms. There is no cure. It can get worse over time, and may spread to other parts of the body. Occasionally it goes away, either temporarily or for good. Treatment focuses on relieving the pain, and can include medicines, physical therapy, and nerve blocks. NIH: National Institute of Neurological Disorders and Stroke

What is (are) Scurvy ?

Scurvy is a condition that develops in people who do not consume an adequate amount of vitamin C in their diet. Although scurvy is relatively rare in the United States, it continues to be a problem in malnourished populations around the world (such as impoverished, underdeveloped third world countries). Early features of the condition include general weakness, fatigue and aching limbs. If left untreated, more serious problems can develop such as anemia, gum disease, and skin hemorrhages. Symptoms generally develop after at least 3 months of severe or total vitamin C deficiency. Treatment consists of vitamin C supplements taken by mouth.

What is (are) Fistulas ?

A fistula is an abnormal connection between two parts inside of the body. Fistulas may develop between different organs, such as between the esophagus and the windpipe or the bowel and the vagina. They can also develop between two blood vessels, such as between an artery and a vein or between two arteries. Some people are born with a fistula. Other common causes of fistulas include - Complications from surgery - Injury - Infection - Diseases, such as Crohn's disease or ulcerative colitis Treatment depends on the cause of the fistula, where it is, and how bad it is. Some fistulas will close on their own. In some cases, you may need antibiotics and/or surgery.

What is (are) Ollier disease ?

Ollier disease is a skeletal disorder characterized by an asymmetric distribution of cartilagenous tumors (endochondromas) which may lead to skeletal deformities and limb-length discrepancy.[3] This condition primarily affects the long bones and cartilage of the joints of the arms and legs, specifically the area where the shaft and head of a long bone meet (metaphyses). Clinical manifestations often appear in the first decade of life. The cause is unknown. There is no medical treatment, although surgery may be indicated in cases where complications (pathological fractures, growth defect, malignant transformation) arise.

What is (are) Chiari Malformation ?

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

What is (are) Alzheimer's Disease ?

Alzheimer's disease has three stages: early (also called mild), middle (moderate), and late (severe). A person in the early stage of Alzheimers may - find it hard to remember things - ask the same questions over and over - get lost in familiar places - lose things or put them in odd places - have trouble handling money and paying bills - take longer than normal to finish daily tasks. find it hard to remember things ask the same questions over and over get lost in familiar places lose things or put them in odd places have trouble handling money and paying bills take longer than normal to finish daily tasks. As Alzheimers disease progresses to the middle stage, memory loss and confusion grow worse, and people may have problems recognizing family and friends. Other symptoms are this stage include - difficulty learning new things and coping with new situations - trouble carrying out tasks that involve multiple steps, like getting dressed - impulsive behavior - forgetting the names of common things - hallucinations, delusions, or paranoia - wandering away from home. difficulty learning new things and coping with new situations trouble carrying out tasks that involve multiple steps, like getting dressed impulsive behavior forgetting the names of common things hallucinations, delusions, or paranoia wandering away from home. As Alzheimers disease becomes more severe, people lose the ability to communicate. They may sleep more, lose weight, and have trouble swallowing. Often they are incontinentthey cannot control their bladder and/or bowels. Eventually, they need total care.

What is (are) Urine Blockage in Newborns ?

The urinary tract is the bodys drainage system for removing wastes and extra fluid. The urinary tract includes two kidneys, two ureters, a bladder, and a urethra. 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 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. The amount produced depends on their age. The urine flows from the kidneys to the bladder through tubes called ureters. The bladder stores urine until releasing it through urination. When the bladder empties, urine flows out of the body through a tube called the urethra at the bottom of the bladder. The kidneys and urinary system keep fluids and natural chemicals in the body balanced. While a baby is developing in the mothers womb, called prenatal development, the placentaa temporary organ joining mother and babycontrols much of that balance. The babys kidneys begin to produce urine at about 10 to 12 weeks after conception. However, the mothers placenta continues to do most of the work until the last few weeks of the pregnancy. Wastes and extra water are removed from the babys body through the umbilical cord. The babys urine is released into the amniotic sac and becomes part of the amniotic fluid. This fluid plays a role in the babys lung development.

What is (are) Severe combined immunodeficiency ?

Severe combined immunodeficiencies (SCID) are inherited immune system disorders characterized by abnormalities with responses of both T cells and B cells (specific types of white blood cells needed for immune system function). Common signs and symptoms include an increased susceptibility to infections including ear infections; pneumonia or bronchitis; oral thrush; and diarrhea. Due to recurrent infections, affected children do not grow and gain weight as expected (failure to thrive). SCID may be caused by mutations in any of several genes and can be inherited in an X-linked recessive (most commonly) or autosomal recessive manner. The most effective treatment is transplantation of blood-forming stem cells from the bone marrow of a healthy person. Without treatment, affected children rarely live past the age of two.