Druvith/medqa1 huggingface dataset:
Question:  What causes Moyamoya disease ?
Answer: What causes Moyamoya disease? In some families, risk for moyamoya disease is inherited. Changes in the RNF213 gene have been associated with the condition. There are other gene changes involved in moyamoya disease, that remain to be found. Factors such as infection or inflammation, likely also play a role in the condition's development in these families. Other people develop moyamoya syndrome or phenomenon. Moyamoya syndrome can occur in association with many different conditions, such as with infections, atherosclerosis (clogged arteries), blood disorders (for example sickle cell disease or beta thalassemia), vasculitis, autoimmune conditions (for example Lupus, thyroid disorders, Sneddon syndrome), connective tissue disorders (for example neurofibromatosis (NF) type 1 or Tuberous sclerosis), chromosome disorders, metabolic diseases, head trauma or radiation, brain tumors, and heart disease, to name a few.
Question:  What are the treatments for Moyamoya disease ?
Answer: How might Moyamoya disease be treated? Treatment for Moyamoya disease should begin early in the disease course to prevent severe complications. Surgery is the mainstay of treatment, and is the only viable long-term treatment. There are several types of revascularization surgeries that can restore blood flow to the brain by opening narrowed blood vessels, or by bypassing blocked arteries. While children usually respond better to revascularization surgery than adults, the majority of individuals have no further strokes or related problems after surgery. No medication can stop the narrowing of the brain's blood vessels, or the development of the thin, fragile vessels that characterize the disease. However, medications are used to treat many of the symptoms of the disease, and are often an important part of the management. Medications may include aspirin (to prevent or reduce the development of small blood clots); calcium channel blockers (which may improve symptoms of headaches and reduce symptoms related to transient ischemic attacks); and anti-seizure medications (when needed for a seizure disorder). In a few cases, anticoagulants may be needed for people with unstable or frequent symptoms. However, they are not used long-term due to the risk of cerebral bleeding. Additional information about the treatment of Moyamoya disease is available on Medscape Reference's Web site. People interested in learning about specific treatment options for themselves or family members should speak with their health care provider.
Question:  What are the symptoms of Corpus callosum agenesis double urinary collecting ?
Answer: What are the signs and symptoms of Corpus callosum agenesis double urinary collecting? The Human Phenotype Ontology provides the following list of signs and symptoms for Corpus callosum agenesis double urinary collecting. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the gastrointestinal tract 90% Abnormality of the palate 90% Abnormality of the ureter 90% Abnormality of the voice 90% Aplasia/Hypoplasia of the corpus callosum 90% Cognitive impairment 90% Cubitus valgus 90% Deep philtrum 90% Deviation of finger 90% Low posterior hairline 90% Low-set, posteriorly rotated ears 90% Sacral dimple 90% Trigonocephaly 90% Upslanted palpebral fissure 90% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question:  What is (are) Gorham's disease ?
Answer: Gorham's disease is a rare bone disorder that is characterized by bone loss (osteolysis), often associated with swelling or abnormal blood vessel growth (angiomatous proliferation). Bone loss can occur in just one bone, or spread to soft tissue and adjacent bones. It may affect any part of the skeleton, but most commonly involves the skull, shoulder, and pelvis. The cause of Gorham's disease is currently unknown.  Most cases occur randomly. Treatment is based on the signs and symptoms present in each affected person, and most commonly involves surgery and/or radiation therapy. In some cases, Gorham's disease improves without treatment (spontaneous remission).
Question:  What are the symptoms of Gorham's disease ?
Answer: What are the signs and symptoms of Gorham's disease? Most cases of Gorham's disease are discovered before the age of 40. Symptoms vary among affected people and depend on the area of the body involved. The most commonly involved sites are the skull, jaw, shoulder, rib cage, and pelvis. The degree of complications ranges from mild to severe, or even life-threatening. In some cases, affected people may rapidly develop pain and swelling in the affected area, or a fracture on the affected site. Others may experience a dull pain or ache, limitation of motion, or generalized weakness that builds over time. Some people don't have any symptoms. Complications from Gorham's disease may occur when fluids build-up in the space between the membrane that surround each lung and line the chest cavity (pleural effusion). This can have serious consequences, including loss of protein, malnutrition, and respiratory distress and failure. The Human Phenotype Ontology provides the following list of signs and symptoms for Gorham's disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Cystic angiomatosis of bone - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question:  What are the treatments for Gorham's disease ?
Answer: How might Gorham disease be treated? No specific therapy exists for people with Gorham's disease. Certain treatments may be effective in some, but not others. Several different methods are often used before finding one that is effective. In some cases, treatment may not be necessary. Most people require intense treatment, especially if the disease has spread to other areas of the body or if there is extensive involvement in the spine and skull. Treatment options include radiation therapy, steroids, and/or surgery that may involve bone grafting. Other treatments might include biphosphonates (such as pamidronate or zoledronic acid) and alpha-2b interferon. These treatments have led to improvement of symptoms in some cases. More research is necessary to determine the long-term safety and effectiveness of these therapies in people with Gorham's disease.  All treatments (pharmacological and surgical) are all still considered to be experimental since there have been no studies done to examine the effectiveness of anything used to date. In general, no single treatment has been proven effective in stopping the progression of the disease.
Question:  What is (are) Progressive multifocal leukoencephalopathy ?
Answer: Progressive multifocal leukoencephalopathy (PML) is a neurological disorder that damages the myelin that covers and protects nerves in the white matter of the brain. It is caused by the JC virus (JCV). By age 10, most people have been infected with this virus, but it rarely causes symptoms unless the immune system becomes severely weakened. The disease occurs, rarely, in organ transplant patients; people undergoing chronic corticosteroid or immunosuppressive therapy; and individuals with cancer, such as Hodgkins disease, lymphoma, and sarcoidosis.  PML is most common among individuals with acquired immune deficiency syndrome (AIDS).
Question:  What are the treatments for Progressive multifocal leukoencephalopathy ?
Answer: How might progressive multifocal leukoencephalopathy (PML) be treated? Currently, the best available therapy is reversal of the immune-deficient state. This can sometimes be accomplished by alteration of chemotherapy or immunosuppression. In the case of HIV-associated PML, immediately beginning anti-retroviral therapy will benefit most individuals.
Question:  What are the symptoms of Anal sphincter dysplasia ?
Answer: What are the signs and symptoms of Anal sphincter dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Anal sphincter dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Chronic constipation - Encopresis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question:  What are the symptoms of Legius syndrome ?
Answer: What are the signs and symptoms of Legius syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Legius syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the sternum 5% Attention deficit hyperactivity disorder - Autosomal dominant inheritance - Axillary freckling - Cafe-au-lait spot - Epicanthus - High palate - Hypertelorism - Low posterior hairline - Low-set, posteriorly rotated ears - Macrocephaly - Multiple lipomas - Muscular hypotonia - Neurofibromas - Ptosis - Short neck - Specific learning disability - Triangular face - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question:  What is (are) HAIR-AN syndrome ?
Answer: HAIR-AN syndrome is a condition that affects women. It is characterized by hyperandrogenism, insulin resistance, and acanthosis nigricans. Insulin resistance is a condition in which the body produces insulin but does not use it properly. This causes the pancreas to produce more insulin. High levels of insulin stimulate the ovaries to make too much androgen, leading too excessive  hair growth, acne, and irregular periods. Insulin resistance can also lead to diabetes, high blood pressure, heart disease, and excessive growth and darkening of the skin (aconthosis nigricans). Women with HAIR-AN may be born with insulin resistance or acquire it over time.
Question:  What is (are) Muir-Torre syndrome ?
Answer: Muir-Torre syndrome (MTS) is a form of Lynch syndrome and is characterized by sebaceous (oil gland) skin tumors in association with internal cancers. The most common internal site involved is the gastrointestinal tract (with almost half of affected people having colorectal cancer), followed by the genitourinary tract. Skin lesions may develop before or after the diagnosis of the internal cancer. MTS is caused by changes (mutations) in the MLH1 or MSH2 genes and is inherited in an autosomal dominant manner. A mutation in either of these genes gives a person an increased lifetime risk of developing the skin changes and types of cancer associated with the condition.
Question:  What are the symptoms of Muir-Torre syndrome ?
Answer: What are the signs and symptoms of Muir-Torre syndrome? Sebaceous adenoma is the most characteristic finding in people with Muir-Torre syndrome (MTS). Other types of skin tumors in affected people include sebaceous epitheliomas, sebaceous carcinomas (which commonly occur on the eyelids) and keratoacanthomas. Sebaceous carcinoma of the eyelid can invade the orbit of the eye and frequently metastasize, leading to death. Tumors at other sites can also metastasize, but are less likely to cause death. Common sites of keratocathomas include the face and the upper side of the hands, but they can occur anywhere on the body. The most common internal cancer in people with MTS is colorectal cancer, occurring in almost half of affected people. The second most common site is the genitourinary tract. Other cancers that may occur include breast cancer, lymphoma, leukemia (rarely), salivary gland tumors, lower and upper respiratory tract tumors, and chondrosarcoma. Intestinal polyps as well as various benign tumors may also occur. The Human Phenotype Ontology provides the following list of signs and symptoms for Muir-Torre syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Adenoma sebaceum 90% Neoplasm of the colon 50% Neoplasm of the stomach 50% Hematological neoplasm 7.5% Neoplasm of the breast 7.5% Neoplasm of the liver 7.5% Ovarian neoplasm 7.5% Renal neoplasm 7.5% Salivary gland neoplasm 7.5% Uterine neoplasm 7.5% Autosomal dominant inheritance - Basal cell carcinoma - Benign gastrointestinal tract tumors - Benign genitourinary tract neoplasm - Breast carcinoma - Colon cancer - Colonic diverticula - Duodenal adenocarcinoma - Laryngeal carcinoma - Malignant genitourinary tract tumor - Sebaceous gland carcinoma - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question:  What causes Muir-Torre syndrome ?
Answer: What causes Muir-Torre syndrome? Muir-Torre syndrome is a subtype of Lynch syndrome and may be caused by changes (mutations) in either the MLH1, MSH2, or MSH6 gene. These genes give the body instructions to make proteins needed for repairing DNA. The proteins help fix mistakes that are made when DNA is copied before cells divide. When one of these genes is mutated and causes the related protein to be absent or nonfunctional, the number of DNA mistakes that do not get repaired increases substantially. The affected cells do not function normally, increasing the risk of tumor formation. The MSH2 gene is responsible for MTS in the majority of cases. Mutations in MLH1 and MSH2 have the most severe effect. Not everyone diagnosed with MTS will have a detectable mutation in one of these genes. Other, unidentified genes may also play a role in the development of the condition.
Question:  Is Muir-Torre syndrome inherited ?
Answer: How is Muir-Torre syndrome inherited? Muir-Torre-syndrome (MTS) is a variant of Lynch syndrome and is inherited in an autosomal dominant manner. This means that having only one changed (mutated) copy of the responsible gene in each cell is enough for a person to develop the condition. When a person with an autosomal dominant condition has children, each child has 50% (1 in 2) chance to inherit the mutated copy of the responsible gene. It is important to note that people who inherit a mutated gene that causes MTS inherit an increased risk of cancer, not the disease itself. Not all people who inherit a mutation in an associated gene will develop cancer. This phenomenon is called reduced penetrance. The majority of people diagnosed with a form of Lynch syndrome have inherited the mutated gene from a parent. However, because not all people with a mutation develop cancer, and the variable age at which cancer may develop, not all people with a mutation have a parent who had cancer. Thus, the family history may appear negative. A positive family history of MTS is identified in roughly 50% of affected people. The percentage of people with Lynch syndrome who have a new mutation in the gene that occurred for the first time (and was not inherited from a parent) is unknown but is estimated to be extremely low.
Question:  How to diagnose Muir-Torre syndrome ?
Answer: How is Muir-Torre syndrome diagnosed? A person is suspected to have Muir-Torre syndrome (MTS)if he/she has one or more of the following: History of one or more sebaceous tumors Age younger than 60 years at first presentation of sebaceous tumors Personal history of Lynch-related cancers Family history of Lynch-related cancers The presence of specific skin tumors in MTS may lead to the correct diagnosis even in the absence of a clear family history. A person diagnosed with MTS can also have genetic testing to see if they have a mutation in one of the genes known to cause MTS. However, not everyone with Muir-Torre syndrome will have a detectable mutation in one of these genes. Other, unidentified genes may also play a role in the development of the condition.
Question:  What is (are) Moebius syndrome ?
Answer: Moebius syndrome is a rare neurological condition that primarily affects the muscles that control facial expression and eye movement. Signs and symptoms of the condition may include weakness or paralysis of the facial muscles; feeding, swallowing, and choking problems; excessive drooling; crossed eyes; lack of facial expression; eye sensitivity; high or cleft palate; hearing problems; dental abnormalities; bone abnormalities in the hands and feet; and/or speech difficulties. Affected children often experience delayed development of motor skills (such as crawling and walking), although most eventually acquire these skills. Moebius syndrome is caused by the absence or underdevelopment of the 6th and 7th cranial nerves, which control eye movement and facial expression. Other cranial nerves may also be affected. There is no cure for Moebius syndrome, but proper care and treatment give many individuals a normal life expectancy.