Ahmed062646/NLP_Medora_Datasets huggingface dataset:
Question: What are the symptoms of Familial avascular necrosis of the femoral head ?
Answer: What are the signs and symptoms of Familial avascular necrosis of the femoral head? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial avascular necrosis of the femoral head. 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 - Avascular necrosis of the capital femoral epiphysis - 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) Mastocytic enterocolitis ?
Answer: Mastocytic enterocolitis is a term describing the condition of chronic, intractable diarrhea in people with normal colon or duodenum biopsy results, but with an increased number of mast cells in the colonic mucosa (the innermost layer of the colon). The increase in mast cells is not associated with systemic or cutaneous mastocytosis. It is unclear whether the accumulation of mast cells is a response to, or cause of, the mucosal inflammation that causes the symptoms of the condition. Most individuals with this condition respond well to drugs affecting mast cell function.
Question: What are the symptoms of Mastocytic enterocolitis ?
Answer: What are the signs and symptoms of mastocytic enterocolitis? According to the medical literature, signs and symptoms of mastocytic enterocolitis primarily include chronic, intractable diarrhea and abdominal pain. Other symptoms that have occasionally been reported include constipation, nausea, and/or vomiting. Although other signs and symptoms appear to have been reported by individuals on various online forums and support Web sites, we were unable to locate additional information about symptoms of the condition in the available medical literature. At this time, literature about mastocytic enterocolitis is scarce.
Question: How to diagnose Mastocytic enterocolitis ?
Answer: How is mastocytic enterocolits diagnosed? Mastocytic enterocolitis is diagnosed after an endoscopic procedure in which the doctor takes samples of tissues (biopsies) from the lining of the intestines. The tissue is then sent to a pathologist who looks at it under the microscope. Mast cells may be hard to see on biopsies without a special stain for tryptase, an enzyme present in mast cells. Mastocytic enterocolitis is diagnosed when excess mast cells are present in the small bowel or the colon.
Question: What are the treatments for Mastocytic enterocolitis ?
Answer: How might mastocytic enterocolitis be treated? There is very limited information in the medical literature about the treatment of mastocytic enterocolitis. Options that have been suggested include antihistamines and/or medications that alter mast cell mediator release and function, or mast cell stabilizers. Symptoms of chronic diarrhea may be relieved by staying well-hydrated and avoiding dehydration; maintaining a well-balanced diet; and avoiding alcohol and beverages that contain caffeine. People with a diagnosis of mastocytic enterocolitis who are looking for specific treatment options should speak with their healthcare provider.
Question: What is (are) Usher syndrome, type 1E ?
Answer: Usher syndrome is a genetic condition characterized by hearing loss or deafness, and progressive vision loss due to retinitis pigmentosa. Three major types of Usher syndrome have been described - types I, II, and III. The different types are distinguished by their severity and the age when signs and symptoms appear. All three types are inherited in an autosomal recessive manner, which means both copies of the disease-causing gene in each cell have mutations.
Question: What are the symptoms of Usher syndrome, type 1E ?
Answer: What are the signs and symptoms of Usher syndrome, type 1E? The Human Phenotype Ontology provides the following list of signs and symptoms for Usher syndrome, type 1E. 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 - Congenital sensorineural hearing impairment - Rod-cone dystrophy - Vestibular areflexia - 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: Is Usher syndrome, type 1E inherited ?
Answer: How is Usher syndrome inherited? Usher syndrome is inherited in an autosomal recessive manner. This means that a person must have a change (mutation) in both copies of the disease-causing gene in each cell to have Usher syndrome. One mutated copy is typically inherited from each parent, who are each referred to as a carrier. Carriers of an autosomal recessive condition usually do not have any signs or symptoms. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) chance to have the condition, a 50% (1 in 2) chance to be an unaffected carrier like each parent, and a 25% chance to not be a carrier and not be affected.
Question: What are the symptoms of Maturity-onset diabetes of the young, type 1 ?
Answer: What are the signs and symptoms of Maturity-onset diabetes of the young, type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Maturity-onset diabetes of the young, type 1. 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 - Maturity-onset diabetes of the young - 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) Autoimmune gastrointestinal dysmotility ?
Answer: Autoimmune gastrointestinal dysmotility (AGID) is a rare form of autoimmune autonomic neuropathy that can occur either due to an idiopathic cause or a paraneoplastic cause. Idiopathic forms of AGID are a manifestation of autoimmune autonomic neuropathy that affects the digestive nervous system. The signs and symptoms of AGID may include achalasia,gastroparesis, hypertrophic pyloric stenosis, intestinal pseudo-obstruction, megacolon and anal spasm. Treatment options for AGID includes symptom relief, treatment of any underlying neoplasm if necessary, immunotherapy and supportive treatment. Nutrition and hydration therapy as well as management of abdominal pain are important supportive treatment measures.
Question: What are the symptoms of Fingerprint body myopathy ?
Answer: What are the signs and symptoms of Fingerprint body myopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Fingerprint body myopathy. 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 - Myopathy - X-linked 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.
Question: What are the symptoms of Hypertrichosis congenital generalized X-linked ?
Answer: What are the signs and symptoms of Hypertrichosis congenital generalized X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypertrichosis congenital generalized X-linked. 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) Scoliosis 5% Congenital, generalized hypertrichosis - Hirsutism - X-linked dominant 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.
Question: What is (are) Familial esophageal achalasia ?
Answer: Familial esophageal achalasia refers to a cluster of achalasia within a family. Achalasia is a condition that affects the esophagus, the tube that carries food from the mouth to the stomach. In people with achalasia, the normal muscle activity of the esophagus is reduced and the muscular valve where the esophagus and the stomach meet doesn't fully relax. This makes it difficult for food to move from the esophagus to the stomach. As a result, people with achalasia may experience regurgitation of food, chest pain, cough, difficulty swallowing, heartburn, and/or unintentional weight loss. Reports of familial esophageal achalasia are rare and represent less than 1% of all achalasia cases. In these families, the underlying genetic cause of the condition is unknown, but it appears to be inherited in an autosomal recessive manner. Treatment aims to allow food to pass more easily into this stomach and may include injections with botulinum toxin (Botox), certain medications and/or surgery.
Question: What are the symptoms of Familial esophageal achalasia ?
Answer: What are the signs and symptoms of Familial esophageal achalasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial esophageal achalasia. 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) Achalasia - Autosomal recessive inheritance - Keratoconjunctivitis sicca - Rheumatoid arthritis - Xerostomia - 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) Catecholaminergic polymorphic ventricular tachycardia ?
Answer: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a genetic disorder that causes an abnormally fast and irregular heart rhythm in response to physical activity or emotional stress. Signs and symptoms include light-headedness, dizziness, and fainting. Symptoms most often develop between 7 to 9 years of age. If untreated CPVT can cause a heart attack and death. CPVT is caused by mutations in the RYR2 or CASQ2 genes. When a RYR2 gene mutation is involved, the condition is passed through families in an autosomal dominant fashion. When CASQ2 gene mutations are involved, the condition is inherited in an autosomal recessive fashion. In some cases the underlying cause can not be determined. Beta blockers are used to treat CPVT. An Implantable Cardioverter Defibrillator (ICD) may also be needed.
Question: What are the symptoms of Catecholaminergic polymorphic ventricular tachycardia ?
Answer: What are the signs and symptoms of Catecholaminergic polymorphic ventricular tachycardia? The Human Phenotype Ontology provides the following list of signs and symptoms for Catecholaminergic polymorphic ventricular tachycardia. 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) Vertigo 50% Sudden cardiac death 7.5% Autosomal dominant inheritance - Seizures - Sudden death - Syncope - Ventricular tachycardia - 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 Catecholaminergic polymorphic ventricular tachycardia ?
Answer: Do all people with catecholaminergic polymorphic ventricular tachycardia require treatment? It has been recommended that all people clinically diagnosed with catecholaminergic polymorphic ventricular tachycardia (CPVT) receive treatment. Some individuals who have never had or demonstrated symptoms of CPVT, for example asymptomatic family members with CASQ2 gene mutations, may still benefit from treatment. We recommend that you speak with your healthcare provider regarding your treatment options.
Question: What is (are) Sacrococcygeal Teratoma ?
Answer: A sacrococcygeal teratoma is a tumor that grows at the base of the spine in a developing fetus. It occurs in one in 40,000 newborns and girls are four times more likely to be affected than boys. Though it is usually benign, there is a possibility that the teratoma could become malignant. As such, the recommended treatment of a teratoma is complete removal of the tumor by surgery, performed soon after the birth. If not all of the tumor is removed during the initial surgery, the teratoma may grow back (recur) and additional surgeries may be needed. Studies have found that sacrococcygeal teratomas recur in up to 22% of cases.
Question: What are the treatments for Sacrococcygeal Teratoma ?
Answer: How might a sacrococcygeal teratoma be treated? The treatment for sacrococcygeal teratoma (SCT) typically involves surgery to remove the tumor. Surgery occurs either in the prenatal period or shortly after delivery. The timing is dependent on the size of the tumor and the associated symptoms. To learn more about both prenatal and postnatal surgery for SCT, visit the following links from The Children's Hospital of Philadelphia (CHOP) http://www.chop.edu/treatments/fetal-surgery-sacrococcygeal-teratoma-sct/about#.VqGW_PkrJD8 http://www.chop.edu/treatments/postnatal-surgery-sacrococcygeal-teratoma-sct#.VqGX7vkrJD8
Question: What is (are) Lucey-Driscoll syndrome ?
Answer: Lucey-Driscoll syndrome, a form of transient familial hyperbilirubinemia, is a rare metabolic disorder that leads to very high levels of bilirubin in a newborn's blood. Babies with this disorder may be born with severe jaundice (yellow skin), yellow eyes and lethargy. It occurs when the body does not properly break down (metabolize) a certain form of bilirubin. If untreated, this condition can cause seizures, neurologic problems (kernicterus) and even death. Treatment for Lucey-Driscoll syndrome includes phototherapy with blue light (to treat the high level of bilirubin in the blood) and an exchange transfusion is sometimes necessary. Different inheritance patterns have been reported and in some cases, it occurs in individuals with no family history of the condition.
Question: What causes Lucey-Driscoll syndrome ?
Answer: What causes Lucey-Driscoll syndrome? Lucey-Driscoll syndrome is caused by high levels of a bilirubin "conjugating enzyme inhibitor which is a substance that limits the ability of bilirubin to bind to an enzyme. When bilirubin does not bind efficiently, it builds up in the bloodstream. This inhibitor is thought to occur in the blood (serum) of pregnant women, and it likely blocks the enzyme activity necessary for the development of the fetal liver. Familial cases may result from the pregnant woman having a mutation in the uridine diphosphate-glucuronosyltransferase gene(UGT1A1).
Question: What causes Acute intermittent porphyria ?
Answer: What causes acute intermittent porphyria (AIP)? AIP is caused by the deficiency of an enzyme called porphobilinogen deaminase (PBGD), also known as hydroxymethylbilane synthase (HMBS) and formerly known as uroporphyrinogen I-synthase. The deficiency of PBGD is caused by a mutation in the HMBS gene. The HMBS gene is the only gene known to be associated with AIP. However, the deficiency of PBGD alone is not enough to cause AIP. Other activating factors (e.g., hormones, drugs, dietary changes) must also be present.
Question: Is Acute intermittent porphyria inherited ?
Answer: How is acute intermittent porphyria (AIP) inherited? AIP is inherited in an autosomal dominant fashion, which means only one of the two HMBS genes needs to have a disease-causing mutation to decrease enzyme activity and cause symptoms.
Question: How to diagnose Acute intermittent porphyria ?
Answer: How is acute intermittent porphyria (AIP) diagnosed? Diagnosis of AIP is suspected in individuals with otherwise unexplained severe, acute abdominal pain without physical signs. The finding of increased levels of delta-aminolevulinic acid (ALA) and porphobilinogen (PBG) in urine establishes that one of the acute porphyrias is present. If PBGD is deficient in normal red blod cells, the diagnosis of AIP is established. The diagnosis is confirmed in individuals with a disease-causing mutation in the HMBS gene, the only gene known to be associated with AIP, which encodes the erythrocyte hydroxymethylbilane synthase enzyme. Molecular genetic testing of the HMBS gene detects more than 98% of affected individuals and is available in clinical laboratories. To obtain a list of clinical laboratories offering genetic testing for AIP, click here.
Question: What are the treatments for Acute intermittent porphyria ?
Answer: How might acute intermittent porphyria (AIP) be treated? Treatment of AIP may vary based on the trigger of the attack and the symptoms present. Treatment may include stopping medications that cause or worsen the symptoms, treating any infections which may be present, administration of pain medication, monitoring fluid balance and/or correcting electrolyte disturbances, monitoring neurologic status and administering respiratory support. Mild attacks can be manged with increased caloric intake and fluid replacement. Recurrent acute attacks should be managed by a porphyria specialist. Hospitalization is often necessary. Panhematin, an intravenous medication used to correct heme deficiency, may also be prescribed. More detailed information about the use of Panhematin for the treatment of AIP can be found by clicking here.