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null,What is (are) Treacher Collins syndrome ?,"Treacher Collins syndrome is a condition that affects the development of bones and other tissues of the face. The signs and symptoms of this disorder vary greatly, ranging from almost unnoticeable to severe. Most affected individuals have underdeveloped facial bones, particularly the cheek bones, and a very small jaw and chin (micrognathia). Some people with this condition are also born with an opening in the roof of the mouth called a cleft palate. In severe cases, underdevelopment of the facial bones may restrict an affected infant's airway, causing potentially life-threatening respiratory problems.  People with Treacher Collins syndrome often have eyes that slant downward, sparse eyelashes, and a notch in the lower eyelids called an eyelid coloboma. Some affected individuals have additional eye abnormalities that can lead to vision loss. This condition is also characterized by absent, small, or unusually formed ears. Hearing loss occurs in about half of all affected individuals; hearing loss is caused by defects of the three small bones in the middle ear, which transmit sound, or by underdevelopment of the ear canal. People with Treacher Collins syndrome usually have normal intelligence."
null,Does granulocyte-colony stimulating factor activate JAK2/PI3K/PDE3B pathway to inhibit corticosterone synthesis in a neonatal hypoxic-ischemic brain injury rat model?,Our data suggest that the neuroprotective G-CSF reduces corticosterone synthesis at the adrenal level by degrading intracellular cAMP via activation of the JAK2/PI3K/PDE3B pathway.
null,What are the symptoms of Pachyonychia congenita ?,"The signs and symptoms of pachyonychia congenita (PC) vary based on the specific keratin gene involved (KRT6A, KRT6B, KRT6C, KRT16, and KRT17) and the specific gene mutation. However, the most common features of the condition include: Thickened nails Plantar hyperkeratosis (thickened skin on the soles of the feet) with underlying blisters Plantar pain Various types of cysts (i.e. steatocystoma and pilosebaceous cysts - two types of sebaceous gland cysts) Follicular hyperkeratosis (small bumps at the base of hairs) Leukokeratosis (white patches on the tongue, in the mouth, or on the inside of the cheek) Some affected people may also develop calluses on the palms of the hands (palmar hyperkeratosis), sores at the corner of the mouth; natal teeth; a hoarse cry or voice caused by white film on the larynx (voice box); and/or intense pain when beginning to eat or swallow. For more specific information on the signs and symptoms of PC, including specific features that are not associated with the condition, please visit the Pachyonychia Congenita Project's Web site. The Human Phenotype Ontology provides the following list of signs and symptoms for Pachyonychia congenita. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of nail color 90% Abnormality of the fingernails 90% Abnormality of the toenails 90% Hyperhidrosis 90% Abnormal blistering of the skin 50% Anonychia 50% Carious teeth 50% Ichthyosis 50% Neoplasm of the skin 50% Alopecia 7.5% Cataract 7.5% Cognitive impairment 7.5% Corneal dystrophy 7.5% Hepatomegaly 7.5% Laryngomalacia 7.5% Respiratory insufficiency 7.5% Autosomal dominant inheritance - Chapped lip - Dry hair - Epidermoid cyst - Follicular hyperkeratosis - Furrowed tongue - Gingivitis - Heterogeneous - Hoarse voice - Nail dysplasia - Nail dystrophy - Natal tooth - Onychogryposis of toenails - Oral leukoplakia - Palmar hyperkeratosis - Palmoplantar hyperhidrosis - Palmoplantar hyperkeratosis - Palmoplantar keratoderma - Plantar hyperkeratosis - Sparse eyebrow - Sparse scalp hair - Steatocystoma multiplex - Subungual hyperkeratosis - Thick nail - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common."
null,What are the treatments for Congenital laryngeal palsy ?,"The most common treatments for vocal fold paralysis are voice therapy and surgery. Some people's voices will naturally recover sometime during the first year after diagnosis, which is why doctors often delay surgery for at least a year. During this time, a speech-language pathologist may be needed for voice therapy, which may involve exercises to strengthen the vocal folds or improve breath control while speaking. Patients may also learn how to use the voice differently, for example, by speaking more slowly or opening the mouth wider when speaking. Treatment may include: Corticosteroids: When there is an associated disease such as Wegener's granulomatosis, sarcoidosis or polychondritis. Medical treatment of the disease that lead to an inflammation of the cricoarytenoid joint ( gout) or the laryngeal mucosa such as syphilis and tuberculosis (resulting in mechanical attachment of the vocal cords) to improve breathing. Diabetes treatment: Can help to improve a neuropathy of the vocal cords caused by the diabetes mellitus. Treatment of reflux: When the condition is caused by the gastroesophageal reflux. Treatment of the eventual scarring of the arytenoid cartilages. Several surgical procedures depending on whether one or both of the vocal cords are paralyzed. The most common procedures change the position of the vocal fold. These may involve inserting a structural implant or stitches to reposition the laryngeal cartilage and bring the vocal folds closer together. These procedures usually result in a stronger voice. Surgery is followed by additional voice therapy to help fine-tune the voice:  Functional procedures as microflap, laryngectomy (similar to tracheostomy) with subsequent cricoidotomia (removal of the cricoid cartilage) and cartilage graft and stent (or stent placement only) or reconstruction of the local mucosa with scar removal. Tracheotomy: May be required to help breathing. In a tracheotomy, an incision is made in the front of the neck and a breathing tube is inserted through an opening, called a stoma, into the trachea. Rather than occurring through the nose and mouth, breathing now happens through the tube. Following surgery, therapy with a speech-language pathologist helps you learn how to use the voice and how to properly care for the breathing tube  Permanent treatments with removal of the vocal cords (unilateral or bilateral) or the arytenoid cartilage (endoscopic or external, partial or complete) or changing the position of the vocal cords. Other treatment may include:  Reinnervation techniques (experimental)  Electrical stimulation (experimental). Most cases of unilateral vocal cord paralysis do not need any treatment. Adopting a vertical position is sometimes enough to relieve breathing problems but in some patients it may require an intubation."
null,What is (are) androgen insensitivity syndrome ?,"Androgen insensitivity syndrome is a condition that affects sexual development before birth and during puberty. People with this condition are genetically male, with one X chromosome and one Y chromosome in each cell. Because their bodies are unable to respond to certain male sex hormones (called androgens), they may have mostly female sex characteristics or signs of both male and female sexual development.  Complete androgen insensitivity syndrome occurs when the body cannot use androgens at all. People with this form of the condition have the external sex characteristics of females, but do not have a uterus and therefore do not menstruate and are unable to conceive a child (infertile). They are typically raised as females and have a female gender identity. Affected individuals have male internal sex organs (testes) that are undescended, which means they are abnormally located in the pelvis or abdomen. Undescended testes can become cancerous later in life if they are not surgically removed. People with complete androgen insensitivity syndrome also have sparse or absent hair in the pubic area and under the arms.  The partial and mild forms of androgen insensitivity syndrome result when the body's tissues are partially sensitive to the effects of androgens. People with partial androgen insensitivity (also called Reifenstein syndrome) can have normal female sex characteristics, both male and female sex characteristics, or normal male sex characteristics. They may be raised as males or as females, and may have a male or a female gender identity. People with mild androgen insensitivity are born with male sex characteristics, but are often infertile and tend to experience breast enlargement at puberty."
null,What is (are) Cholesteatoma ?,"Cholesteatoma is a type of skin cyst located in the middle ear. It can be congenital (present from birth), but it more commonly occurs as a complication of chronic ear infection. The hallmark symptom is a painless discharge from the ear. Hearing loss, dizziness, and facial muscle paralysis are rare but can result from continued cholesteatoma growth. Surgery can stop infections and prevent complications."
null,What is (are) Variant Creutzfeldt-Jakob disease ?,"There are several known variants of Creutzfeldt-Jakob disease (CJD). These variants differ somewhat in the symptoms and course of the disease. For example, a variant form of the disease-called new variant or variant (nv-CJD, v-CJD), described in Great Britain and France, begins primarily with psychiatric symptoms, and has a longer than usual duration from onset of symptoms to death. New variant CJD accounts for less than 1% of cases, and tends to affect younger people. It can result when someone is exposed to contaminated products. While classic CJD is not related to mad cow disease, new variant CJD (nvCJD) is an infectious form that is related to mad cow disease. The infection responsible for the disease in cows (bovine spongiform encephalitis) is believed to be the same one responsible for vCJD in humans. There have not been any cases of nvCJD reported in the U.S. Another variant, called the panencephalopathic form, occurs primarily in Japan and has a relatively long course, with symptoms often progressing for several years. Scientists are trying to gain a better understanding about what causes these variations in the symptoms and course of the disease."
null,Do sphingosine-kinase 1 and 2 contribute to oral sensitization and effector phase in a mouse model of food allergy?,Modulation of the S1P homeostasis by deletion of either SphK1 or SphK2 alters the sensitization and effector phase of food allergy.
null,Is placental STAT3 signaling activated in women with polycystic ovary syndrome?,Placental STAT3 signaling is activated but mTOR signaling is unaffected in PCOS.
null,Is Sandhoff disease inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition."
null,Is red blood cell distribution width an independent predictor of mortality in acute kidney injury patients treated with continuous renal replacement therapy?,Our study demonstrates that RDW could be an additive predictor for all-cause mortality in AKI patients on CRRT treatment in the ICU.
null,Does gαo repress insulin secretion by reducing vesicular docking in pancreatic beta-cells?,"Gαo is not required for endocrine islet cell differentiation, but it regulates the number of insulin vesicles docked on the β-cell membrane."
null,Is ratio of intratumoral macrophage phenotypes a prognostic factor in epithelioid malignant pleural mesothelioma?,"The total number of macrophages in tumor tissue did not correlate with OS in both groups, however, the CD163/CD68 ratio correlates with OS in the total patient group. Our data revealed that the CD163/CD68 ratio is a potential prognostic marker in epithelioid mesothelioma patients independent of treatment but cannot be used as a predictive marker for outcome after surgery."
null,Do clinical guidelines contribute to the health inequities experienced by individuals with intellectual disabilities?,"The equity lens is a useful tool to systematically examine whether clinical guidelines address the health needs and inequities experienced by disadvantaged groups. Clinical guidelines are likely to further widen the health inequities experienced by persons with intellectual disabilities, and other disadvantaged groups, by being preferentially advantageous to the general population. There is a need to systematically incorporate methods to consider disadvantaged population groups into the processes used to develop clinical guidelines."
null,What is (are) nonsyndromic holoprosencephaly ?,"Nonsyndromic holoprosencephaly is an abnormality of brain development that also affects the head and face. Normally, the brain divides into two halves (hemispheres) during early development. Holoprosencephaly occurs when the brain fails to divide properly into the right and left hemispheres. This condition is called nonsyndromic to distinguish it from other types of holoprosencephaly caused by genetic syndromes, chromosome abnormalities, or substances that cause birth defects (teratogens). The severity of nonsyndromic holoprosencephaly varies widely among affected individuals, even within the same family.  Nonsyndromic holoprosencephaly can be grouped into four types according to the degree of brain division. From most to least severe, the types are known as alobar, semi-lobar, lobar, and middle interhemispheric variant (MIHV). In the most severe forms of nonsyndromic holoprosencephaly, the brain does not divide at all. These affected individuals have one central eye (cyclopia) and a tubular nasal structure (proboscis) located above the eye. Most babies with severe nonsyndromic holoprosencephaly die before birth or soon after. In the less severe forms, the brain is partially divided and the eyes are usually set close together (hypotelorism). The life expectancy of these affected individuals varies depending on the severity of symptoms.  People with nonsyndromic holoprosencephaly often have a small head (microcephaly), although they can develop a buildup of fluid in the brain (hydrocephalus) that causes increased head size (macrocephaly). Other features may include an opening in the roof of the mouth (cleft palate) with or without a split in the upper lip (cleft lip), one central front tooth instead of two (a single maxillary central incisor), and a flat nasal bridge. The eyeballs may be abnormally small (microphthalmia) or absent (anophthalmia).  Some individuals with nonsyndromic holoprosencephaly have a distinctive pattern of facial features, including a narrowing of the head at the temples, outside corners of the eyes that point upward (upslanting palpebral fissures), large ears, a short nose with upturned nostrils, and a broad and deep space between the nose and mouth (philtrum). In general, the severity of facial features is directly related to the severity of the brain abnormalities. However, individuals with mildly affected facial features can have severe brain abnormalities. Some people do not have apparent structural brain abnormalities but have some of the facial features associated with this condition. These individuals are considered to have a form of the disorder known as microform holoprosencephaly and are typically identified after the birth of a severely affected family member.  Most people with nonsyndromic holoprosencephaly have developmental delay and intellectual disability. Affected individuals also frequently have a malfunctioning pituitary gland, which is a gland located at the base of the brain that produces several hormones. Because pituitary dysfunction leads to the partial or complete absence of these hormones, it can cause a variety of disorders. Most commonly, people with nonsyndromic holoprosencephaly and pituitary dysfunction develop diabetes insipidus, a condition that disrupts the balance between fluid intake and urine excretion. Dysfunction in other parts of the brain can cause seizures, feeding difficulties, and problems regulating body temperature, heart rate, and breathing. The sense of smell may be diminished (hyposmia) or completely absent (anosmia) if the part of the brain that processes smells is underdeveloped or missing."
null,Is pyridoxine-dependent epilepsy inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition."
null,What are the genetic changes related to infantile-onset spinocerebellar ataxia ?,"Mutations in the C10orf2 gene cause IOSCA. The C10orf2 gene provides instructions for making two very similar proteins called Twinkle and Twinky. These proteins are found in the mitochondria, which are structures within cells that convert the energy from food into a form that cells can use.  Mitochondria each contain a small amount of DNA, known as mitochondrial DNA or mtDNA, which is essential for the normal function of these structures. The Twinkle protein is involved in the production and maintenance of mtDNA. The function of the Twinky protein is unknown.  The C10orf2 gene mutations that cause IOSCA interfere with the function of the Twinkle protein and result in reduced quantities of mtDNA (mtDNA depletion). Impaired mitochondrial function in the nervous system, muscles, and other tissues that require a large amount of energy leads to neurological dysfunction and the other problems associated with IOSCA."
null,What is (are) Graves disease ?,"Graves disease is a condition that affects the function of the thyroid, which is a butterfly-shaped gland in the lower neck. The thyroid makes hormones that help regulate a wide variety of critical body functions. For example, thyroid hormones influence growth and development, body temperature, heart rate, menstrual cycles, and weight. In people with Graves disease, the thyroid is overactive and makes more hormones than the body needs. The condition usually appears in mid-adulthood, although it may occur at any age.  Excess thyroid hormones can cause a variety of signs and symptoms. These include nervousness or anxiety, extreme tiredness (fatigue), a rapid and irregular heartbeat, hand tremors, frequent bowel movements or diarrhea, increased sweating and difficulty tolerating hot conditions, trouble sleeping, and weight loss in spite of an increased appetite. Affected women may have menstrual irregularities, such as an unusually light menstrual flow and infrequent periods. Some people with Graves disease develop an enlargement of the thyroid called a goiter. Depending on its size, the enlarged thyroid can cause the neck to look swollen and may interfere with breathing and swallowing.  Between 25 and 50 percent of people with Graves disease have eye abnormalities, which are known as Graves ophthalmopathy. These eye problems can include swelling and inflammation, redness, dryness, puffy eyelids, and a gritty sensation like having sand or dirt in the eyes. Some people develop bulging of the eyes caused by inflammation of tissues behind the eyeball and ""pulling back"" (retraction) of the eyelids. Rarely, affected individuals have more serious eye problems, such as pain, double vision, and pinching (compression) of the optic nerve connecting the eye and the brain, which can cause vision loss.  A small percentage of people with Graves disease develop a skin abnormality called pretibial myxedema or Graves dermopathy. This abnormality causes the skin on the front of the lower legs and the tops of the feet to become thick, lumpy, and red. It is not usually painful."
null,What are the symptoms of Oculocutaneous albinism type 1B ?,"The Human Phenotype Ontology provides the following list of signs and symptoms for Oculocutaneous albinism type 1B. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Freckling 90% Generalized hypopigmentation 90% Hypopigmentation of hair 90% Ocular albinism 90% Strabismus 90% Abnormality of the macula 50% Melanocytic nevus 50% Nystagmus 50% Optic atrophy 50% Photophobia 50% Visual impairment 50% Neoplasm of the skin 7.5% Thickened skin 7.5% Albinism - Autosomal recessive inheritance - Hypopigmentation of the fundus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common."
null,What are the symptoms of Prostate Cancer ?,"Symptoms Most cancers in their early, most treatable stages don't cause any symptoms. Early prostate cancer usually does not cause symptoms. However, if prostate cancer develops and is not treated, it can cause these symptoms: - a need to urinate frequently, especially at night  - difficulty starting urination or holding back urine  - inability to urinate  - weak or interrupted flow of urine  - painful or burning urination  - difficulty in having an erection  - painful ejaculation  - blood in urine or semen  - pain or stiffness in the lower back, hips, or upper thighs. a need to urinate frequently, especially at night difficulty starting urination or holding back urine inability to urinate weak or interrupted flow of urine painful or burning urination difficulty in having an erection painful ejaculation blood in urine or semen pain or stiffness in the lower back, hips, or upper thighs. Any of these symptoms may be caused by cancer, but more often they are due to enlargement of the prostate, which is not cancer. If You Have Symptoms If you have any of these symptoms, see your doctor or a urologist to find out if you need treatment. A urologist is a doctor who specializes in treating diseases of the genitourinary system. The doctor will ask questions about your medical history and perform an exam to try to find the cause of the prostate problems. The PSA Test The doctor may also suggest a blood test to check your prostate specific antigen, or PSA, level. PSA levels can be high not only in men who have prostate cancer, but also in men with an enlarged prostate gland and men with infections of the prostate. PSA tests may be very useful for early cancer diagnosis. However, PSA tests alone do not always tell whether or not cancer is present. PSA screening for prostate cancer is not perfect. (Screening tests check for disease in a person who shows no symptoms.) Most men with mildly elevated PSA do not have prostate cancer, and many men with prostate cancer have normal levels of PSA. A recent study revealed that men with low prostate specific antigen levels, or PSA, may still have prostate cancer. Also, the digital rectal exam can miss many prostate cancers. Other Tests The doctor may order other exams, including ultrasound, MRI, or CT scans, to learn more about the cause of the symptoms. But to confirm the presence of cancer, doctors must perform a biopsy. During a biopsy, the doctor uses needles to remove small tissue samples from the prostate and then looks at the samples under a microscope. If Cancer is Present If a biopsy shows that cancer is present, the doctor will report on the grade of the tumor. Doctors describe a tumor as low, medium, or high-grade cancer, based on the way it appears under the microscope. One way of grading prostate cancer, called the Gleason system, uses scores of 2 to 10. Another system uses G1 through G4. The higher the score, the higher the grade of the tumor. High-grade tumors grow more quickly and are more likely to spread than low-grade tumors."
null,What is (are) glycine encephalopathy ?,"Glycine encephalopathy, which is also known as nonketotic hyperglycinemia or NKH, is a genetic disorder characterized by abnormally high levels of a molecule called glycine. This molecule is an amino acid, which is a building block of proteins. Glycine also acts as a neurotransmitter, which is a chemical messenger that transmits signals in the brain. Glycine encephalopathy is caused by the shortage of an enzyme that normally breaks down glycine in the body. A lack of this enzyme allows excess glycine to build up in tissues and organs, particularly the brain, leading to serious medical problems.  The most common form of glycine encephalopathy, called the classical type, appears shortly after birth. Affected infants experience a progressive lack of energy (lethargy), feeding difficulties, weak muscle tone (hypotonia), abnormal jerking movements, and life-threatening problems with breathing. Most children who survive these early signs and symptoms develop profound intellectual disability and seizures that are difficult to treat. For unknown reasons, affected males are more likely to survive and have less severe developmental problems than affected females.  Researchers have identified several other types of glycine encephalopathy with variable signs and symptoms. The most common of these atypical types is called the infantile form. Children with this condition develop normally until they are about 6 months old, when they experience delayed development and may begin having seizures. As they get older, many develop intellectual disability, abnormal movements, and behavioral problems. Other atypical types of glycine encephalopathy appear later in childhood or adulthood and cause a variety of medical problems that primarily affect the nervous system.  Rarely, the characteristic features of classical glycine encephalopathy improve with time. These cases are classified as transient glycine encephalopathy. In this form of the condition, glycine levels decrease to normal or near-normal after being very high at birth. Many children with temporarily high glycine levels go on to develop normally and experience few long-term medical problems. Intellectual disability and seizures occur in some affected individuals, however, even after glycine levels decrease."
null,What is (are) Small Intestine Disorders ?,"Your small intestine is the longest part of your digestive system - about twenty feet long! It connects your stomach to your large intestine (or colon) and folds many times to fit inside your abdomen. Your small intestine does most of the digesting of the foods you eat. It has three areas called the duodenum, the ileum, and the jejunum.    Problems with the small intestine can include:       - Bleeding    - Celiac disease    - Crohn's disease    - Infections    - Intestinal cancer    - Intestinal obstruction    - Irritable bowel syndrome    - Ulcers, such as peptic ulcer       Treatment of disorders of the small intestine depends on the cause."
null,"What is (are) Periodic fever, aphthous stomatitis, pharyngitis and adenitis ?","Periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis (PFAPA) is a periodic disease, which is a heterogeneous group of disorders characterized by short episodes of illness that regularly recur for several years alternated with healthy periods. PFAPA is characterized by high fevers lasting three to six days and recurring every 21 to 28 days, accompanied by some or all of the signs noted in its name, namely mouth sores (aphthous stomatitis), sore throat (pharyngitis), and enlarged lymph nodes (cervical adenitis). The syndrome usually occurs in children younger than five years; although it has been reported in children up to 13 years. The syndrome is sporadic and non-hereditary. The course of PFAPA can be persistent for years before spontaneous, full resolution."
null,Does diameter of large balloons used in endoluminal graft deployment vary with inflation pressure?,The large balloon catheters tested in this study were designed for arterial angioplasty or valvuloplasty. They attained a significantly smaller size than their nominal diameter at pressures < 3 atm and became compliant at pressures exceeding 3 atm. Interventionists should be aware of these characteristics when using balloon catheters such as these during endoluminal graft deployment. Large balloons that reach predictable diameter at lower pressures should be designed specifically for use in endoluminal graft procedures.
null,Do dedicated emergency departments delay surgical treatment of acute appendicitis?,Introducing a new emergency service required an extra doctor for diagnosing appendicitis which delayed the overall time to definitive treatment by nearly 2.5 hours.
null,How many people are affected by otospondylomegaepiphyseal dysplasia ?,This condition is rare; the prevalence is unknown. Only a few families with OSMED have been reported worldwide.
null,Do subjective Discomfort Symptoms Are Related to Low Corneal Temperature in Patients With Evaporative Dry Eye?,"Subjective sensation of discomfort occurred earlier in patients with DE than in controls, in correlation to low corneal temperatures and enhanced tear evaporation."
null,Does postextrasystolic blood pressure potentiation predict poor outcome of cardiac patients?,"PESP, which likely reflects abnormalities of myocardial calcium cycling, predicts the mortality risk in postinfarction patients."
null,Is iron overload in a murine model of hereditary hemochromatosis associated with accelerated progression of osteoarthritis under mechanical stress?,HH was associated with an accelerated development of OA in mice. Our findings suggest that synovial iron overload has a definite role in the progression of HH-related OA.
null,Does thyroid resection improve perception of swallowing function in patients with thyroid disease?,"In patients with thyroid disease, uncomplicated thyroidectomy leads to significant improvements in many aspects of patient-reported swallowing-related QOL measured by the SWAL-QOL instrument."
null,Does perforations of right heart chambers associated with electrophysiology catheters and temporary transvenous pacing lead?,"Although right ventricular perforations detected early have a relatively benign course, those detected late and right atrial perforations require emergent surgical exploration and may have catastrophic consequences."
null,What are the treatments for leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation ?,These resources address the diagnosis or management of LBSL:  - Gene Review: Gene Review: Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation  - Genetic Testing Registry: Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care
null,What is (are) Paramyotonia congenita ?,"Paramyotonia congenita is an inherited condition that affects muscles used for movement (skeletal muscles), mainly in the face, neck, arms, and hands. Symptoms begin in infancy or early childhood and include episodes of sustained muscle tensing (myotonia) that prevent muscles from relaxing normally and lead to muscle weakness.  Symptoms in paramyotonia congenita worsen during exposure to cold temperatures, and unlike many other forms of myotonia, worsen with exercise and repeated movements. This condition is caused by mutations in the SCN4A gene and is inherited in an autosomal dominant pattern."
null,What are the genetic changes related to primary sclerosing cholangitis ?,"Primary sclerosing cholangitis is thought to arise from a combination of genetic and environmental factors. Researchers believe that genetic changes play a role in this condition because it often occurs in several members of a family and because immediate family members of someone with primary sclerosing cholangitis have an increased risk of developing the condition. It is likely that specific genetic variations increase a person's risk of developing primary sclerosing cholangitis, and then exposure to certain environmental factors triggers the disorder. However, the genetic changes that increase susceptibility and the environmental triggers remain unclear.  There is evidence that variations in certain genes involved in immune function influence the risk of developing primary sclerosing cholangitis. The most commonly associated genes belong to a family of genes called the human leukocyte antigen (HLA) complex. The HLA complex helps the immune system distinguish the body's own proteins from proteins made by foreign invaders (such as viruses and bacteria). Each HLA gene has many different normal variations, allowing each person's immune system to react to a wide range of foreign proteins. Specific variations of several HLA genes seem to be present more often in people with primary sclerosing cholangitis than in people who do not have the disorder. These variations may dysregulate the body's immune response, leading to the inflammation of the bile ducts in people with primary sclerosing cholangitis. However, the mechanism is not well understood. Researchers are also studying variations in other genes related to the body's immune function to understand how they contribute to the risk of developing this condition."