Druvith/medqa huggingface dataset:
What is (are) Pili torti ? 

Pili torti is a rare hair condition characterized by fragile hair. In pili torti hair has a flattened shaft with clusters of narrow twists at irregular intervals. Some cases may be inherited in autosomal dominant or autosomal recessive patterns, while others are acquired. In the inherited form, symptoms tend to be present from early childhood. It can occur alone or as part of other diseases like ectodermal dysplasias, Menke disease, Bjornstand syndrome, or Bazex syndrome. Acquired cases of pili torti may be associated with anorexia nervosa, malnutrition, oral retinoid treatment, or inflammatory scalp conditions (e.g., cutaneous lupus erythematousus). If pili torti is detected, it is necessary to investigate possible neurological disorders, hearing loss, and defects in the hair, nails, sweat glands and teeth. There is no specific treatment for this condition, but it may improve spontaneously after puberty. Click here to visit Medscape and view an image of a child with pili torti.
What are the symptoms of Pili torti ? 

What are the signs and symptoms of Pili torti? The Human Phenotype Ontology provides the following list of signs and symptoms for Pili torti. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Coarse hair 90% Pili torti 90% Abnormality of dental enamel 50% Abnormality of the eyebrow 50% Abnormality of the nail 50% Alopecia 50% Hearing impairment 7.5% Autosomal dominant inheritance - Autosomal recessive inheritance - Brittle hair - Dry hair - Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes - Hypoplasia of dental enamel - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What are the treatments for Pili torti ? 

Are there new therapies for treatment of pili torti? In acquired pili torti, treatment involves stopping the exposure to the causative agent (e.g., to oral retinoids) or condition (e.g., improving diet). There is no specific treatment for the inherited form of pili torti. It may improve spontaneously after puberty. If pili torti is detected, further evaluation to investigate possible neurological disorders, problems with hair, teeth or nails (ectodermal disturbances) and hearing loss is mandatory. It is generally recommended that people with pili torti try to avoid trauma to the hair. Suggestions include, sleeping on a satin pillowcase, avoiding excessive grooming, braiding, heat treatments, dying and coloring, reducing exposure to sunlight (wear a hat), using gentle shampoos diluted in warm water, adding conditioner to freshly washed hair, avoiding use of a hair dryer (or using it on cool setting), and avoiding oral retinoids (e.g., isotretinoin, acitretin) if possible. Some individuals with pili torti choose to wear a wig.
What are the symptoms of Tucker syndrome ? 

What are the signs and symptoms of Tucker syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Tucker syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the voice 90% Hemiplegia/hemiparesis 90% Laryngomalacia 90% Ptosis 90% Premature birth 50% Short stature 50% Autosomal dominant inheritance - Bilateral ptosis - Vocal cord paralysis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What are the symptoms of Martinez Monasterio Pinheiro syndrome ? 

What are the signs and symptoms of Martinez Monasterio Pinheiro syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Martinez Monasterio Pinheiro 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 dental morphology 50% Carious teeth 50% Conductive hearing impairment 50% Finger syndactyly 50% Hypertelorism 50% Long palpebral fissure 50% Abnormal hair quantity 7.5% Urogenital fistula 7.5% Anal atresia 5% Autosomal dominant inheritance - Cleft upper lip - Clinodactyly - Conical tooth - Distichiasis - Ectropion of lower eyelids - Hypodontia - Small nail - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What are the symptoms of Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa ? 

What are the signs and symptoms of Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa? The Human Phenotype Ontology provides the following list of signs and symptoms for Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Amelogenesis imperfecta - Autosomal recessive inheritance - Biconcave vertebral bodies - Broad ribs - Photophobia - Prominent deltoid tuberosities - Reduced visual acuity - Rhizomelia - Rod-cone dystrophy - Scoliosis - Short clavicles - Short femoral neck - Short humerus - Short neck - Short ribs - Strabismus - Visual impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What is (are) Liddle syndrome ? 

Liddle syndrome is a rare, inherited form of high blood pressure (hypertension). The condition is characterized by severe, early-onset hypertension associated with decreased levels of potassium, renin and aldosterone in blood plasma. Children usually have no symptoms; adults can present with symptoms of low potassium levels (hypokalemia) such as weakness, fatigue, muscle pain (myalgia), constipation or palpitations. It is caused by mutations in either the SCNN1B or SCNN1G genes and is inherited in an autosomal dominant manner. Treatment may include a low sodium diet and potassium-sparing diuretics to reduce blood pressure and normalize potassium levels. Conventional anti-hypertensive therapies are not effective.
What are the symptoms of Liddle syndrome ? 

What are the signs and symptoms of Liddle syndrome? Liddle syndrome is chiefly characterized by severe, early-onset hypertension (high blood pressure). In most affected individuals the condition becomes apparent at a young age, but some are not diagnosed until well into adulthood. Individuals typically present with hypertension, hypokalemia (low blood potassium) and metabolic alkalosis. Symptoms of hypokalemia may include weakness, fatigue, muscle pain (myalgia), constipation or heart palpitations. Some affected individuals are not hypokalemic at the time of presentation. The Human Phenotype Ontology provides the following list of signs and symptoms for Liddle syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Arrhythmia 90% Constipation 90% Hypertension 90% Hypokalemia 90% Cerebral ischemia 50% Muscle weakness 50% Nephropathy 50% Renal insufficiency 50% Autosomal dominant inheritance - Decreased circulating renin level - Hypokalemic alkalosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What causes Liddle syndrome ? 

What causes Liddle syndrome? Liddle syndrome is caused by mutations (changes) in either of two genes: SCNN1B and SCNN1G . The SCNN1B gene provides instructions for making one piece (the beta subunit) of protein complexes called epithelial sodium channels (ENaCs). The SCNN1G gene provides instructions for making a different piece (the gamma subunit) of ENaCs. These channels are found at the surface of certain cells called epithelial cells in many tissues of the body, including the kidneys, lungs, and sweat glands. The ENaC channel transports sodium into cells. Mutations in the SCNN1B and SCNN1G genes associated with Liddle syndrome affect an important region of the protein involved in signaling for its breakdown (degradation). As a result of the mutations, the protein is not tagged for degradation, and more ENaC channels remain at the cell's surface. The increase in channels at the cell surface abnormally increases the reabsorption of sodium, which leads to hypertension. Removal of potassium from the blood is linked with reabsorption of sodium into the blood, so excess sodium reabsorption leads to hypokalemia.
Is Liddle syndrome inherited ? 

How is Liddle syndrome inherited? Liddle syndrome is inherited in an autosomal dominant manner. This means that only one mutated copy of the disease-causing gene in each cell is sufficient to cause the condition. The mutated copy of the gene may be inherited from an affected parent or occur for the first time in an affected individual. Individuals with an autosomal dominant condition have a 50% (1 in 2) risk to pass the mutated copy of the gene on to each of his/her children.
How to diagnose Liddle syndrome ? 

How is Liddle syndrome diagnosed? A diagnosis of Liddle syndrome may first be suspected by the detection of early-onset hypertension (high blood pressure), especially in the presence of family history. The diagnosis may then be confirmed by special blood and urine tests which show hypokalemia (low blood potassium levels), decreased or normal plasma levels of renin and aldosterone, metabolic alkalosis with high sodium plasma levels, and low rates of urinary excretion of sodium and aldosterone with high rates of urinary potassium excretion. The diagnosis can be further confirmed by genetic testing.
What are the treatments for Liddle syndrome ? 

How might Liddle syndrome be treated? Treatment for Liddle syndrome includes following a low sodium diet as well as taking potassium-sparing diuretics, which reduce blood pressure and correct hypokalemia and metabolic alkalosis. Conventional anti-hypertensive therapies are not effective for this condition. With treatment, prognosis is good. Without treatment, cardiovascular (heart-related) and renal (kidney-related) complications often occur.
What is (are) Hemangioendothelioma ? 

The term hemangioendothelioma describes several types of vascular neosplasms and includes both non-cancerous (benign) and cancerous (malignant) growths. The term has also been applied to those that show "borderline" behavior, intermediate between entirely benign hemangiomas and highly malignant angiosarcomas. Hemangioendotheliomas are caused by abnormal growth of blood vessel cells, although the exact underlying cause for the abnormal growth is unknown. They can also develop in an organ, such as the liver or lung. They usually grow slowly and can sometimes spread to other tissues in the body (metastasize). Examples of types of hemangioendotheliomas include spindle cell hemangioma; papillary intralymphatic (Dabska tumor); retiform; kaposiform; epithelioid; pseudomyogenic (epithelioid sarcoma-like hemangioendothelioma); and composite. Treatment depends on the type of hemangioendothelioma present but typically includes surgical excision (removal).
What are the treatments for Hemangioendothelioma ? 

How might hemangioendothelioma be treated? Treatment for hemangioendothelioma may depend on the type of hemangioendothelioma present in the affected individual and the risk of recurrence or metastases. In most reported cases, surgical excision (removal) of the mass has been the only treatment. For spindle cell hemangioma, simple excision is reportedly curative; however, new growths develop in adjacent skin and soft tissues in 60% of affected individuals. For individuals with papillary intralymphatic angioendothelioma (PILA), excision of the involved lymph nodes, as well as the mass, has been recommended. Surgical excision is reportedly also the usual treatment for individuals with retiform hemangioendothelioma (although local recurrence with this type is common), epithelioid hemangioendothelioma, and composite hemangioendothelioma (with the exception of 1 case treated with interferon). Most individuals with pseudomyogenic hemangioendothelioma have been treated with simple excision, but a few individuals have also received post-surgical radiotherapy (RT). With regard to kaposiform hemangioendothelioma, some large lesions cannot be completely removed and may cause fatal complications due to the associated KasabachMerritt syndrome. In these cases, several medical therapies have been used, including systemic corticosteroids; alfa interferon; RT; embolization; and several other therapies, both alone and in various combinations. A study by Scott et al published in 2012 in the American Journal of Clinical Oncology evaluated the effectiveness of RT as either an alternative or adjunct to surgery. The authors stated that the effectiveness of definitive RT in the treatment of hemangioendothelioma in their study implies that radiation may be an acceptable alternative when surgical resection will compromise function or cosmetic result. They concluded that with no local recurrences and minimal risk of toxicity, their long-term data suggest that RT offers a highly effective management option for this disease.
What is (are) Fetal and neonatal alloimmune thrombocytopenia ? 

Fetal and neonatal alloimmune thrombocytopenia (NAIT) is a condition where a fetus or newborn experiences severe thrombocytopenia (low platelet count). NAIT occurs when the mother's immune system develops antibodies against antigens on the fetal platelets, which are inherited from the father and different from those present in the mother. These antibodies cross the placenta and can cause severe thrombocytopenia in the fetus. NAIT has been considered to be the platelet counterpart of Rh Hemolytic Disease of the Newborn (RHD). The incidence has been estimated at 1/800 to 1/1,000 live births. The spectrum of the disease may range from mild thrombocytopenia to life-threatening bleeding.
What are the treatments for Fetal and neonatal alloimmune thrombocytopenia ? 

How might fetal and neonatal alloimmune thrombocytopenia (NAIT) be treated? NAIT is often unexpected and is usually diagnosed after birth. Once suspected, the diagnosis is confirmed by demonstration of maternal anti-platelet antibodies directed against a paternal antigen inherited by the baby. Management in the newborn period involves transfusion of platelets that do not contain the specific antigens. Prompt diagnosis and treatment are essential to reduce the chances of death and disability due to severe bleeding.
What is (are) Congenital diaphragmatic hernia ? 

Congenital diaphragmatic hernia (CDH) is the lack of development before birth of all or part of the diaphragm, which normally separates the organs in the abdomen from those in the chest cavity. It can range in severity from a thinned area in the diaphragm to its complete absence. CDH may allow the stomach and intestines to move into the chest cavity, crowding the heart and lungs. This can then lead to underdevelopment of the lungs (pulmonary hypoplasia), potentially causing life-threatening complications. CDH has many different causes and occurs with other malformations in some cases. Treatment options depend on the severity of the defect.
What are the symptoms of Congenital diaphragmatic hernia ? 

What are the signs and symptoms of Congenital diaphragmatic hernia? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital diaphragmatic hernia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Congenital diaphragmatic hernia 90% Multifactorial inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What causes Congenital diaphragmatic hernia ? 

What causes congenital diaphragmatic hernia? Congenital diaphragmatic hernia (CDH) can occur as an isolated finding, as part of a genetic syndrome or chromosome abnormality, or as part of a complex but nonsyndromic set of findings. Currently, about 15%-20% of individuals with CDH have an identifiable cause for their diaphragm defect. These individuals are classified as having syndromic CDH either resulting from a recognized chromosome abnormality or as a single gene disorder. In the remaining 80%-85% of individuals with CDH, the cause is not known. Potential causes in these individuals may include: a currently undetectable chromosomal microdeletion (tiny loss of genetic material) or microduplication (an extra copy of genetic material) a mutation in a major gene important for diaphragm development combined effects of multiple minor genetic mutations or variants (polygenic inheritance) effects of gene-environment interactions (multifactorial inheritance) effects of non-genetic factors (e.g. epigenetic or teratogenic) GeneReviews has more detailed information about causes of CDH; this information can be viewed by clicking here.
What is (are) Plasmablastic lymphoma ? 

Plasmablastic lymphoma is an aggressive form of non-Hodgkin lymphoma. Although the condition most commonly occurs in the oral cavity, it can be diagnosed in many other parts of the body such as the gastrointestinal tract, lymph nodes, and skin. The exact underlying cause of plasmablastic lymphoma is poorly understood; however, it is often associated with suppression of the immune system (i.e. HIV infection, immunosuppressive therapy). There is currently no standard therapy for plasmablastic lymphoma. Treatment usually consists of chemotherapy with or without radiation therapy and hematopoietic stem cell transplantation.
What is (are) Familial stomach cancer ? 

Familial stomach cancer is a cluster of stomach cancer within a family. Most cases of stomach cancer occur sporadically in people with little to no family history of the condition; however, approximately 10% of stomach cancer is considered "familial." Although the underlying cause of some familial cases is unknown, genetic changes (mutations) are identified in a subset of people affected by gastric cancer. Hereditary cancer syndromes associated with a predisposition to gastric cancer include hereditary diffuse gastric cancer, Lynch syndrome, Li-Fraumeni syndrome, familial adenomatous polyposis, and Peutz-Jeghers syndrome. In other families, the cluster of stomach cancers may be due to a combination of gene(s) and/or other shared factors such as environment and lifestyle. Depending on the estimated risk, high-risk cancer screening and/or prophylactic surgeries are typically recommended in people who have an increased risk for stomach cancer based on their personal and/or family histories.