Druvith/medqa1 huggingface dataset:
Question:  What is (are) Pachygyria ?
Answer: Pachygyria is a developmental condition due to abnormal migration of nerve cells (neurons) in the developing brain and nervous system. With pachygyria, there are few gyri (the ridges between the wrinkles in the brain), and they are usually broad and flat. The condition is also known as "incomplete lissencephaly." Pachygyria may occur alone (isolated) or as part of various underlying syndromes. Symptoms vary among affected people and may include moderate to severe developmental delay, seizures, poor muscle tone and control, feeding or swallowing difficulties, and small head size (microcephaly). In most cases it is not inherited, but various inheritance patterns have been reported. Treatment is symptomatic and supportive.
Question:  What are the symptoms of Pachygyria ?
Answer: What are the signs and symptoms of pachygyria? Signs and symptoms of pachygyria vary among affected people and can depend on the extent of the abnormality. They often include poor muscle tone and motor function; seizures; developmental delays; intellectual disability; failure to grow and thrive; difficulties with feeding or swallowing; swelling in the extremities; and small head size (microcephaly). Most infants appear physically normal, but some conditions associated with pachygyria cause distinctive facial or skull characteristics.
Question:  What causes Pachygyria ?
Answer: What causes pachygyria? Pachygyria, also called "incomplete lissencephaly," may be caused by various non-genetic (environmental) and genetic factors that play a role in impairing the development of the outer region of the brain (the cerebral cortex). The cerebral cortex is responsible for conscious movement and thought, and should have deep convolutions (gyri) and grooves (sulci), which are formed by "infolding" of the cerebral cortex. During normal embryonic growth, immature cells that later develop into specialized nerve cells (neurons) normally migrate to the brain's surface, making several layers of cells. When this process is impaired, the cells don't migrate to their locations, resulting in too few cell layers and absence (agyria) or incomplete development (pachygyria) of gyri. Environmental factors that contribute to the condition may include intrauterine infection during pregnancy (such as a virus), and insufficient flow of oxygenated blood to the brain (ischemia) during fetal development. More than 25 syndromes due to abnormal migration of neurons have been reported; in some of these cases, the genetic cause and pattern of inheritance depends on that of the specific syndrome. Mutations in several genes have been identified in people with abnormalities of cortical development, including the KIF5C, KIF2A, DYNC1H1, WDR62, and TUBG1 genes. Studies have also found that isolated lissencephaly may result from mutations in the LIS1 and XLIS (also called DCX) genes. People interested in learning about the cause of pachygyria in themselves or family members should speak with their health care provider or a a genetics professional.
Question:  What are the treatments for Pachygyria ?
Answer: How might pachygyria be treated? Because the symptoms of the condition vary from person to person, treatment is symptomatic, and may include anti-seizure medication, such as Trileptal, and special or supplemental education consisting of physical, occupational, and speech therapies.
Question:  What is (are) Homocystinuria ?
Answer: Homocystinuria is an inherited disorder in which the body is unable to process certain building blocks of proteins (amino acids) properly. The most common form, called cystathionine beta-synthase deficiency, is characterized by dislocation of the lens in the eye, an increased risk of abnormal blood clots, skeletal abnormalities, and sometimes problems with development and learning. Less common forms are caused by a lack of other enzymes. These disorders can cause intellectual disability, seizures, problems with movement, and a blood disorder called megaloblastic anemia. Mutations in the CBS, MTHFR, MTR, and MTRR genes cause homocystinuria, and it is inherited in an autosomal recessive manner. Treatment varies depending upon the cause of the disorder.
Question:  What are the symptoms of Thyroid cancer, follicular ?
Answer: What are the signs and symptoms of Thyroid cancer, follicular? The Human Phenotype Ontology provides the following list of signs and symptoms for Thyroid cancer, follicular. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis - Autosomal dominant inheritance - Follicular thyroid 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 are the symptoms of Cranioacrofacial syndrome ?
Answer: What are the signs and symptoms of Cranioacrofacial syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Cranioacrofacial syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hand morphology - Autosomal dominant inheritance - Dupuytren contracture - Narrow face - Pulmonic stenosis - Ventricular septal defect - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question:  What is (are) Squamous cell carcinoma of the head and neck ?
Answer: Cancers that are known collectively as head and neck cancers usually begin in the squamous cells that line the moist, mucosal surfaces inside the head and neck (for example, inside the mouth, the nose, and the throat). These squamous cell cancers are often referred to as squamous cell carcinomas of the head and neck. At least 75 % of head and neck cancers are caused by tobacco and alcohol use. Infection with cancer-causing types of human papillomavirus (HPV), especially HPV-16, is a risk factor for some types of head and neck cancers. The symptoms of head and neck cancers may include a lump or a sore that does not heal, a sore throat that does not go away, difficulty in swallowing, and a change or hoarseness in the voice. Treatment for head and neck cancer can include surgery, radiation therapy, chemotherapy, targeted therapy, or a combination of treatments.
Question:  What is (are) Kluver Bucy syndrome ?
Answer: Kluver Bucy syndrome is a rare behavioral impairment characterized by inappropriate sexual behaviors and mouthing of objects. Other signs and symptoms, include a diminished ability to visually recognize objects, loss of normal fear and anger responses, memory loss, distractibility, seizures, and dementia. It is associated with damage to the anterior temporal lobes of the brain. Cases have been reported in association with herpes encephalitis and head trauma. Treatment is symptomatic and may include the use of psychotropic medications.
Question:  What are the symptoms of Minicore myopathy with external ophthalmoplegia ?
Answer: What are the signs and symptoms of Minicore myopathy with external ophthalmoplegia? The Human Phenotype Ontology provides the following list of signs and symptoms for Minicore myopathy with external ophthalmoplegia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Nemaline bodies 5% Areflexia - Autosomal recessive inheritance - Axial muscle weakness - Decreased fetal movement - Difficulty running - Exercise-induced myalgia - External ophthalmoplegia - Facial palsy - Feeding difficulties in infancy - Generalized muscle weakness - High palate - Hydrops fetalis - Increased connective tissue - Increased variability in muscle fiber diameter - Ligamentous laxity - Motor delay - Muscular dystrophy - Myopathic facies - Neonatal hypotonia - Neonatal onset - Polyhydramnios - Proximal muscle weakness - Ptosis - Pulmonary hypoplasia - Recurrent respiratory infections - Respiratory insufficiency - Scoliosis - Skeletal muscle atrophy - Type 1 and type 2 muscle fiber minicore regions - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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) Aberrant subclavian artery ?
Answer: Aberrant subclavian artery is a rare vascular anomaly that is present from birth. It usually causes no symptoms and is often discovered as an incidental finding (such as through a barium swallow or echocardiogram). Occasionally the anomaly causes swallowing difficulty (dysphagia lusoria). Swallowing symptoms in children may present as feeding difficulty and/or recurrent respiratory tract infection. When aberrant subclavian artery causes no symptoms, treatment is not needed. If the anomaly is causing significant symptoms, treatment may involve surgery. Children with symptomatic aberrant subclavian artery should be carefully evaluated for additional vascular and heart anomalies.
Question:  What are the symptoms of Thalamic degeneration symmetrical infantile ?
Answer: What are the signs and symptoms of Thalamic degeneration symmetrical infantile? The Human Phenotype Ontology provides the following list of signs and symptoms for Thalamic degeneration symmetrical infantile. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Hypertonia 90% Incoordination 90% Respiratory insufficiency 90% Abnormality of neuronal migration 50% Abnormality of the voice 50% Arrhythmia 50% Seizures 50% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question:  What is (are) Mucoepidermoid carcinoma ?
Answer: Mucoepidermoid carcinoma is a type of cancer of the salivary glands.  Salivary gland cancer is diagnosed in 2-3 individuals per 100,000 people each year, and 30-35% of these are mucoepidermoid carcinomas.   Mucoepidermoid carcinoma develops when a cell randomly acquires changes (mutations) in genes that regulate how the cell divides such that it begins to grow quickly, forming a cluster of cells (a mass or lump).  The earliest signs of a mucoepidermoid carcinoma may include a lump in the face, neck, or mouth; numbness, weakness, or pain in part of the face; or difficulty swallowing.  Treatment often begins with surgery to remove the entire tumor.  In some cases, radiation therapy and/or chemotherapy may be used after surgery to ensure that no cancer cells remain in the body.
Question:  What are the symptoms of Aganglionosis, total intestinal ?
Answer: What are the signs and symptoms of Aganglionosis, total intestinal? The Human Phenotype Ontology provides the following list of signs and symptoms for Aganglionosis, total intestinal. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Total intestinal aganglionosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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) Alopecia universalis ?
Answer: Alopecia universalis (AU) is a condition characterized by the complete loss of hair on the scalp and body. It is an advanced form of alopecia areata, a condition that causes round patches of hair loss. Although the exact cause of AU is unknown, it is thought to be an autoimmune condition in which an affected person's immune system mistakenly attacks the hair follicles. Roughly 20% of affected people have a family member with alopecia, suggesting that genetic factors may contribute to the development of AU. There is currently no cure for AU, but sometimes hair regrowth occurs on it's own, even after many years.
Question:  What are the symptoms of Alopecia universalis ?
Answer: What are the signs and symptoms of Alopecia universalis? Alopecia universalis (AU) is characterized by the complete loss of hair on both the scalp and body. Most people with AU do not have other signs and symptoms, but some may experience a burning sensation or itching on affected areas. In some cases, AU can be associated with other conditions such as atopic dermatitis, thyroid disorders, and/or nail changes (such as pitting). Anxiety, personality disorders, depression, and paranoid disorders are more common in people with different forms of alopecia areata. The Human Phenotype Ontology provides the following list of signs and symptoms for Alopecia universalis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Alopecia areata - Alopecia totalis - Autoimmunity - Multifactorial inheritance - Nail pits - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question:  What causes Alopecia universalis ?
Answer: What causes alopecia universalis? The exact underlying cause of alopecia universalis (AU) is not currently known. AU is an advanced form of alopecia areata (AA), a condition that leads to round patches of hair loss. AA is thought to be an autoimmune condition in which an affected person's immune system mistakenly attacks the hair follicles. Genetic studies have found that AA and AU are associated with several immune-related genes; however, they are likely complex disorders caused by the interaction of multiple genetic and environmental factors. This means that even if someone inherits a genetic predisposition to the condition, they may not become affected unless something in the environment triggers the onset of the condition.
Question:  Is Alopecia universalis inherited ?
Answer: Is alopecia universalis inherited? Alopecia universalis is believed to be a multifactorial condition, which means it is caused by a combination of environmental influences and genetic predisposition. While a predisposition can be inherited and some affected people have a family history, the condition itself is not thought to be inherited.
Question:  How to diagnose Alopecia universalis ?
Answer: How is alopecia universalis diagnosed? A diagnosis of alopecia universalis is usually based on the signs and symptoms present in each person. In rare cases, a scalp biopsy may be needed to confirm the diagnosis.
Question:  What are the treatments for Alopecia universalis ?
Answer: How might alopecia universalis be treated? Although these is no therapy approved for the treatment of alopecia universalis, some people find that medications approved for other purposes may help hair grow back, at least temporarily. Since alopecia universalis is one of the more severe types of alopecia areata, treatment options are somewhat limited. The most common treatments include corticosteriods and topical (applied to the skin) immunotherapy. There are possible side effects of corticosteriods which should be discussed with a physician. Also, regrown hair is likely to fall out when the corticosteriods are stopped. About 40% of people treated with topical immunotherapy will regrow scalp hair after about six months of treatment. Those who do successfully regrow scalp hair need to continue the treatment to maintain the hair regrowth. While these treatments may promote hair growth, they do not prevent new loss or cure the underlying disease. For those who do not respond to treatment, wigs are an option.
Question:  What are the symptoms of Renal hamartomas nephroblastomatosis and fetal gigantism ?
Answer: What are the signs and symptoms of Renal hamartomas nephroblastomatosis and fetal gigantism? The Human Phenotype Ontology provides the following list of signs and symptoms for Renal hamartomas nephroblastomatosis and fetal gigantism. If the information is available, the table below includes how often the symptom is seen in people with this condition. You 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 philtrum 90% Cognitive impairment 90% Deeply set eye 90% Hepatomegaly 90% High forehead 90% Macrocephaly 90% Muscular hypotonia 90% Open mouth 90% Round face 90% Short nose 90% Tall stature 90% Wide nasal bridge 90% Abnormality of the palate 50% Abnormality of the pancreas 50% Anteverted nares 50% Broad alveolar ridges 50% Cryptorchidism 50% Epicanthus 50% Hyperinsulinemia 50% Hypoplasia of penis 50% Low-set, posteriorly rotated ears 50% Nephroblastoma (Wilms tumor) 50% Polyhydramnios 50% Thickened helices 50% Dolichocephaly 7.5% Hernia of the abdominal wall 7.5% Ptosis 7.5% Seizures 7.5% Single transverse palmar crease 7.5% Abnormal facial shape - Agenesis of corpus callosum - Ascites - Autosomal recessive inheritance - Congenital diaphragmatic hernia - Depressed nasal bridge - Distal ileal atresia - Edema - Hypoplasia of the abdominal wall musculature - Interrupted aortic arch - Large for gestational age - Long upper lip - Low-set ears - Nephroblastomatosis - Nephrogenic rest - Pancreatic islet-cell hyperplasia - Renal hamartoma - Tented upper lip vermilion - Visceromegaly - Volvulus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.