Ahmed062646/NLP_Medora_Datasets huggingface dataset:
Question: What is (are) Congenital radio-ulnar synostosis ?
Answer: Congenital radio-ulnar synostosis is a rare condition in which there is an abnormal connection (synostosis) of the radius and ulna (bones in the forearm) at birth. The condition is present in both arms (bilateral) in approximately 60% of cases. Signs and symptoms depend on the severity of the abnormality and whether it is bilateral; affected individuals often have limited rotational movement of the forearm. Pain is usually not present until the teenage years. It is due to abnormal fetal development of the forearm bones, but the underlying cause is not always known. It is sometimes a feature of certain chromosome abnormalities or genetic syndromes. Some cases appear to be inherited in an autosomal dominant manner. Treatment may be conservative or involve surgery depending on the severity of the abnormality and the range of movement.
Question: What are the symptoms of Congenital radio-ulnar synostosis ?
Answer: What are the signs and symptoms of Congenital radio-ulnar synostosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital radio-ulnar synostosis. 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 - Dislocated radial head - Limited elbow extension - Radioulnar synostosis - 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 Congenital radio-ulnar synostosis ?
Answer: What causes congenital radio-ulnar synostosis? Congenital radio-ulnar synostosis is caused by abnormal development of the forearm bones in the fetal period, although the underlying cause of the developmental abnormality is not always known. The condition may be isolated (occur without other abnormalities) or it may be associated with various other skeletal, cardiac (heart), neurologic, or gastrointestinal abnormalities. When other abnormalities are present, the condition may be due to an underlying genetic cause, including a variety of syndromes or chromosome abnormalities. In some cases, congenital radio-ulnar synostosis appears to be inherited in an autosomal dominant manner. In an article published in 2000, the authors found that autosomal dominant radio-ulnar synostosis with amegakaryocytic thrombocytopenia was caused by mutations in the HOXA11 gene in 2 families.
Question: What are the symptoms of Nevi flammei, familial multiple ?
Answer: What are the signs and symptoms of Nevi flammei, familial multiple? The Human Phenotype Ontology provides the following list of signs and symptoms for Nevi flammei, familial multiple. 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) Arteriovenous malformation 90% Hypermelanotic macule 90% Abnormality of the cranial nerves 7.5% Abnormality of the upper limb 7.5% Arrhythmia 7.5% Cerebral calcification 7.5% Cognitive impairment 7.5% Edema 7.5% Glaucoma 7.5% Hemiplegia/hemiparesis 7.5% Intracranial hemorrhage 7.5% Lower limb asymmetry 7.5% Pulmonary embolism 7.5% Scoliosis 7.5% Seizures 7.5% Skin ulcer 7.5% Thrombophlebitis 7.5% Venous insufficiency 7.5% Autosomal dominant inheritance - Nevus flammeus - 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) Plasminogen activator inhibitor type 1 deficiency ?
Answer: Plasminogen activator inhibitor type 1 (PAI-1) deficiency a rare disorder that causes premature breakdown of blood clots and a moderate bleeding syndrome. While spontaneous bleeding is rare, moderate hemorrhages of the knees, elbows, nose and gums may be triggered by mild trauma. In females, menstrual bleeding is often severe. Prolonged bleeding after surgery is also common. PAI-1 deficiency is caused by homozygous or compound heterozygous mutation in the SERPINE1 gene. Fibrinolysis inhibitors, including epsilon-aminocaproic acid and tranexamic acid, are usually effective in treating and preventing bleeding episodes.
Question: What are the symptoms of Plasminogen activator inhibitor type 1 deficiency ?
Answer: What are the signs and symptoms of Plasminogen activator inhibitor type 1 deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Plasminogen activator inhibitor type 1 deficiency. 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 - Autosomal recessive inheritance - Congenital onset - Menorrhagia - 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 Leiomyosarcoma ?
Answer: How might leiomyosarcoma be treated? Treatment of leiomyosarcoma varies depending on the location and stage of the cancer. Surgery is typically the first choice for treatment, however, chemotherapy, targeted drugs, radiation therapy, and hormonal therapy may also be used to treat leiomyosarcoma. Additional information on the treatment of intestinal leiomyosarcoma is available from Medscape Reference. You may need to register to view this online medical resource, but registration is free
Question: What are the symptoms of Familial visceral myopathy with external ophthalmoplegia ?
Answer: What are the signs and symptoms of Familial visceral myopathy with external ophthalmoplegia? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial visceral 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) Abnormality of the gastric mucosa 90% Decreased body weight 90% Malabsorption 90% Myopathy 90% Ptosis 90% Skeletal muscle atrophy 90% Abnormality of the mitral valve 7.5% Abdominal distention - Abdominal pain - Abnormality of metabolism/homeostasis - Autosomal recessive inheritance - External ophthalmoplegia - Gastroparesis - Malnutrition - Ophthalmoplegia - Peripheral neuropathy - Spontaneous esophageal perforation - 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) Hypoaldosteronism ?
Answer: Hypoaldosteronism is a condition characterized by the shortage (deficiency) or impaired function of a hormone called aldosterone. Hypoaldosteronism may be described as hyporeninemic or hyperreninemic depending on renin levels. Hyporeninemic hypoaldosteronism occurs when there is decreased production of aldosterone due to decreased production of renin . Affected individuals typically have kidney (renal) disease due to various conditions, such as diabetes, interstitial nephritis, or multiple myeloma. Hyperreninemic hypoaldosteronism occurs when there is a problem with the production of aldosterone, but renin is produced normally by the kidneys. Common causes of this form of hypoaldosteronism are medications (ACE inhibitors), lead poisoning, severe illness, and aldosterone enzyme defects.
Question: What are the treatments for Hypoaldosteronism ?
Answer: How might hypoaldosteronism be treated? Treatment for hypoaldosteronism depends on the underlying condition. Affected individuals are often advised to follow a low-potassium diet with liberal sodium intake. People with hypoaldosteronism should typically avoid ACE inhibitors and potassium-sparing diuretics. Individuals with hypoaldosteronism and a deficiency of adrenal glucocorticoid hormones are usually given fludrocortisone. People with hyporeninemic hypoaldosteronism are frequently given furosemide to correct hyperkalemia.
Question: What is (are) Chromosome 4p deletion ?
Answer: Chromosome 4p deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the short arm (p) of chromosome 4. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 4p deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.
Question: What are the symptoms of Pfeiffer Mayer syndrome ?
Answer: What are the signs and symptoms of Pfeiffer Mayer syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Pfeiffer Mayer 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 nasal morphology 90% Abnormality of the pinna 90% Cognitive impairment 90% Optic atrophy 90% Preaxial hand polydactyly 90% Short stature 90% Chorioretinal coloboma 50% Iris coloboma 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) Chromoblastomycosis ?
Answer: Chromoblastomycosis is a chronic fungal infection characterized by raised and crusted lesions which affect the skin and subcutaneous tissue. It most often occurs on the limbs, but can affect any area of the body. Chromoblastomycosis is caused by several fungi found in soil, wood, and decaying plant material. It usually enters the skin through a minor injury such as a splinter. It is most common in areas with tropical and subtropical climates. Treatment of chromoblastomycosis may include medications like itraconazole and flucytosine, cryotherapy, or surgery.
Question: What is (are) GM1 gangliosidosis type 3 ?
Answer: GM1 gangliosidosis is an inherited lysosomal storage disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. The condition may be classified into three major types based on the general age that signs and symptoms first appear: classic infantile (type 1); juvenile (type 2); and adult onset or chronic (type 3). Although the types differ in severity, their features may overlap significantly. GM1 gangliosidosis is caused by mutations in the GLB1 gene and is inherited in an autosomal recessive manner. Treatment is currently symptomatic and supportive.
Question: What are the symptoms of GM1 gangliosidosis type 3 ?
Answer: What are the signs and symptoms of GM1 gangliosidosis type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for GM1 gangliosidosis type 3. 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 blood and blood-forming tissues - Abnormality of the face - Anterior beaking of lumbar vertebrae - Autosomal recessive inheritance - Decreased beta-galactosidase activity - Diffuse cerebral atrophy - Dystonia - Flared iliac wings - Foam cells - Hypoplastic acetabulae - Intellectual disability, mild - Kyphosis - Opacification of the corneal stroma - Platyspondyly - Scoliosis - Short stature - Skeletal muscle atrophy - Slurred speech - 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) Pachyonychia congenita ?
Answer: Pachyonychia congenita (PC) is a rare inherited condition that primarily affects the nails and skin. The fingernails and toenails may be thickened and abnormally shaped. Affected people can also develop painful calluses and blisters on the soles of their feet and less frequently on the palms of their hands (palmoplantar keratoderma). Additional features include white patches on the tongue and inside of the mouth (leukokeratosis); bumps around the elbows, knees, and waistline (follicular hyperkeratosis); and cysts of various types including steatocystoma. Features may vary among affected people depending on their specific mutation. PC is divided into 5 types based on the specific keratin gene involved: PC-K6a, PC-K6b, PC-K6c, PC-K16, and PC-K17. All forms are inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person.
Question: What causes Pachyonychia congenita ?
Answer: What causes pachyonychia congenita? Pachyonychia congenita (PC) is caused by changes (mutations) in one of five genes: KRT6A, KRT6B, KRT6C, KRT16, and KRT17. These genes provide instructions for making a protein called keratin, which is found in the skin, hair, and nails. Mutations in any of these genes alter the structure of keratin proteins which interferes with their ability to provide strength and resilience to various parts of the body. This leads to the many signs and symptoms associated with pachyonychia congenita. PC is divided into 5 types based on the specific keratin gene involved: PC-K6a, PC-K6b, PC-K6c, PC-K16, and PC-K17.
Question: Is Pachyonychia congenita inherited ?
Answer: How is pachyonychia congenita inherited? Pachyonychia congenita (PC) is inherited in an autosomal dominant manner. This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene. These cases occur in people with no history of the disorder in their family. A person with PC has a 50% chance with each pregnancy of passing along the altered gene to his or her child.
Question: How to diagnose Pachyonychia congenita ?
Answer: Is genetic testing available for pachyonychia congenita? Yes, genetic testing is available for the five genes known to cause pachyonychia congenita. Carrier testing for at-risk relatives and prenatal testing are possible if the disease-causing mutation in the family is known. The Genetic Testing Registry (GTR) is a centralized online resource for information about genetic tests. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. How is pachyonychia congenita diagnosed? A diagnosis of pachyonychia congenita (PC) is often suspected based on the presence of characteristic signs and symptoms. In fact, one study found that approximately 97% of people with genetically confirmed PC have toenail thickening, plantar keratoderma (thickening of the skin on the soles of the feet) and plantar pain by age ten. Identification of a change (mutation) in one of the five genes associated with PC confirms the diagnosis.
Question: What are the treatments for Pachyonychia congenita ?
Answer: How might pachyonychia congenita be treated? There is no cure for pachyonychia congenita (PC). Current management is focused on relief of pain and other symptoms; hygienic grooming practices (such as trimming the nails and calluses); and treatment of infections when necessary. Some affected people may also require aids to help with mobility, such as wheelchairs, crutches and/or canes. Pachyonychia Congenita Project offers more detailed information regarding the treatment and management of PC. Please click on the link to access this resource.
Question: What is (are) Clear cell renal cell carcinoma ?
Answer: Clear cell renal cell carcinoma is a cancer of the kidney. The name "clear cell" refers to the appearance of the cancer cells when viewed with a microscope.[5258] Clear cell renal cell carcinoma occurs when cells in the kidney quickly increase in number, creating a lump (mass). Though the exact cause of clear cell renal cell carcinoma is unknown, smoking, the excessive use of certain medications, and several genetic predisposition conditions (such as von Hippel Lindau syndrome) may contribute to the development of this type of cancer. Treatment often begins with surgery to remove as much of the cancer as possible, and may be followed by radiation therapy, chemotherapy, biological therapy, or targeted therapy.
Question: What are the treatments for Clear cell renal cell carcinoma ?
Answer: What treatments for metastatic clear cell renal cell carcinoma are available in North America? There are several treatments for metastatic clear cell renal cell carcinoma available in North America. IL-2 and sunitinib - as well as the medications temsirolimus, bevacizumab with interferon therapy, pazopanib, and sorafenib - are approved by the Food and Drug Administration for the treatment of metastatic clear cell renal cell carcinoma. Because a cure for this disease has yet to be discovered, the National Cancer Institute suggests that individuals with metastatic clear cell renal cell carcinoma consider participation in a research study. IL-2 is offered as a treatment for this disease in some individuals because it has been shown to cause a complete disappearance of signs of this disease (remission) in 5% of treated patients. As IL-2 may cause toxic side effects, it is most appropriate for patients who are in excellent health. Sunitinib is offered because it has been shown to stabilize metastatic clear cell renal cell carcinoma by stopping the disease from getting worse. Individuals treated with sunitinib showed no change in their disease for an average of 11 months.
Question: What is (are) Pendred syndrome ?
Answer: Pendred syndrome is a condition usually characterized by sensorineural hearing loss in both ears (bilateral) and euthyroid goiter (enlargement of the thyroid gland with normal thyroid gland function). The amount of hearing loss varies among affected people. In many cases, significant hearing loss is present at birth. In other cases, hearing loss does not develop until later in infancy or childhood. Some people have problems with balance caused by dysfunction of the part of the inner ear that helps with balance and orientation (the vestibular system). Pendred syndrome is inherited in an autosomal recessive manner. Mutations in 3 genes are currently known to cause the condition (SLC26A4, FOXI1, and KCNJ10) and are found in about half of affected people. Other genes responsible for the condition have not yet been identified.