Druvith/medqa1 huggingface dataset:
Question:  What are the treatments for Pulmonary alveolar proteinosis acquired ?
Answer: How might acquired pulmonary alveolar proteinosis be treated? The treatment of PAP varies from case to case depending upon the age of an affected individual and severity of the disease. Approximately one-third of individuals with idiopathic PAP (of unknown cause) will improve without treatment (spontaneous remission). The other two-thirds may be treated by a whole lung lavage, a procedure in which one lung is cleansed with a salt solution while the other is pumped with pure oxygen. In some cases, the procedure may need to be performed once; in others it may need to be repeated many times over several years. In secondary PAP (due to environmental exposure or an underlying disorder), removal and avoidance of the causative agent (e.g., silica exposure) or treatment of the underlying disorder may improve symptoms. Inhaled GM-CSF (granulocyte-macrophage colony-stimulating factor), a blood-stimulating medication, has been shown to improve the condition in some individuals with PAP. Lung transplantation has been used to treat adults with PAP as a last resort. According to the medical literature, in some cases, PAP has recurred in adults who have received lung transplantation.
Question:  What are the symptoms of Glaucoma 3 primary infantile B ?
Answer: What are the signs and symptoms of Glaucoma 3 primary infantile B? The Human Phenotype Ontology provides the following list of signs and symptoms for Glaucoma 3 primary infantile B. 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 - Primary congenital glaucoma - 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) Good syndrome ?
Answer: Good syndrome is a rare, adult-onset primary immunodeficiency suspected in patients who exhibit hypogammaglobulinemia and low levels of B cells along with a benign thymic tumor (thymoma) on chest X-ray. Symptoms include frequent opportunistic infections involving the sinuses and lungs, including severe CMV disease, P. carinii pneumonia, and mucocutaneous candidiasis. While the cause of Good syndrome remains unknown, there is some evidence that a defect of the bone marrow is involved. Treatment includes removal of the thymic tumor and immunoglobulin replacement.
Question:  What are the symptoms of Griscelli syndrome ?
Answer: What are the signs and symptoms of Griscelli syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Griscelli 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) Hypopigmentation of hair 90% Hypopigmented skin patches 90% Premature graying of hair 90% Abnormality of lipid metabolism 50% Abnormality of neutrophils 50% Decreased antibody level in blood 50% Leukopenia 50% Lymphadenopathy 50% Thrombocytopenia 50% Abnormality of movement 7.5% Abnormality of temperature regulation 7.5% Abnormality of the eyebrow 7.5% Ascites 7.5% Bone marrow hypocellularity 7.5% Cerebral cortical atrophy 7.5% Cognitive impairment 7.5% Cranial nerve paralysis 7.5% Edema of the lower limbs 7.5% Encephalocele 7.5% Hepatomegaly 7.5% Hydrocephalus 7.5% Hypertonia 7.5% Incoordination 7.5% Muscular hypotonia 7.5% Nystagmus 7.5% Ocular albinism 7.5% Seizures 7.5% Short stature 7.5% Splenomegaly 7.5% 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) Osteopetrosis autosomal recessive 4 ?
Answer: Osteopetrosis is a bone disease that makes bones abnormally dense and prone to breakage (fracture). Researchers have described several major types of osteopetrosis, which are usually distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or X-linked. The different types of the disorder can also be distinguished by the severity of their signs and symptoms. Mutations in at least nine genes cause the various types of osteopetrosis.
Question:  What are the symptoms of Osteopetrosis autosomal recessive 4 ?
Answer: What are the signs and symptoms of Osteopetrosis autosomal recessive 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteopetrosis autosomal recessive 4. 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 epiphysis morphology 90% Abnormality of hair texture 90% Abnormality of temperature regulation 90% Abnormality of the metaphyses 90% Abnormality of the ribs 90% Abnormality of visual evoked potentials 90% Anemia 90% Bone pain 90% Bowing of the long bones 90% Bruising susceptibility 90% Cognitive impairment 90% Craniosynostosis 90% Delayed eruption of teeth 90% Hearing impairment 90% Hepatomegaly 90% Hydrocephalus 90% Increased bone mineral density 90% Lymphadenopathy 90% Macrocephaly 90% Narrow chest 90% Nystagmus 90% Optic atrophy 90% Pallor 90% Premature loss of primary teeth 90% Recurrent fractures 90% Recurrent respiratory infections 90% Reduced bone mineral density 90% Sinusitis 90% Splenomegaly 90% Tremor 90% Visual impairment 90% Skeletal muscle atrophy 50% Abnormality of coagulation 7.5% Abnormality of the pulmonary valve 7.5% Apnea 7.5% Cranial nerve paralysis 7.5% Hypocalcemia 7.5% Hypophosphatemia 7.5% Pulmonary hypertension 7.5% Autosomal recessive inheritance - Facial palsy - Hepatosplenomegaly - Osteopetrosis - Reticulocytosis - 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 Nephrosis deafness urinary tract digital malformation ?
Answer: What are the signs and symptoms of Nephrosis deafness urinary tract digital malformation? The Human Phenotype Ontology provides the following list of signs and symptoms for Nephrosis deafness urinary tract digital malformation. 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) Conductive hearing impairment 90% Nephrotic syndrome 90% Abnormality of the ureter 50% Cleft palate 50% Hematuria 50% Hypertension 50% Proteinuria 50% Abnormal localization of kidney 7.5% Abnormality of lipid metabolism 7.5% Renal insufficiency 7.5% Bifid distal phalanx of the thumb - Bifid uvula - Hearing impairment - Partial duplication of the distal phalanx of the hallux - Short distal phalanx of hallux - Short distal phalanx of the thumb - 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) Immunotactoid or fibrillary glomerulopathy ?
Answer: Immunotactoid or fibrillary glomerulopathy is a term that includes two conditions: immunotactoid glomerulopathy and fibrillary glomerulonephritis, which are uncommon causes of glomerular disease. Most experts feel that fibrillary glomerulonephritis and immunotactoid glomerulopathy are separate disorders but they have many similarities and some experts group these disorders together. Fibrillary glomerulonephritis and immunotactoid glomerulopathy can be distinguished from each other by electron microscopy; the 'fibrils' that characterize fibrillary glomerulonephritis are smaller and  randomly oriented as opposed to the larger and organized fibrils of immunotactoid glomerulopathy which also have microtubule formations.  Both disorders probably result from deposits derived from immunoglobulins but in most cases the cause is idiopathic (unknown). The signs and symptoms are similar in both diseases and may include blood (hematuria) and protein (proteinuria) in the urine, kidney insufficiency and high blood pressure. Fibrillary glomeurlonephritis is much more common than immunotactoid glomerulopathy.  Both fibrillary glomerulonephritis and immunotactoid glomerulopathy have been associated with hepatitis C virus infection and with malignancy and autoimmune disease, but immunotactoid glomerulopathy patients have a greater predisposition to chronic lymphocytic leukemia and B cell lymphomas. All patients should be screened for these conditions. It is also important to rule out another disease known as amyloidosis. When the fibrils are stained with an acid dye known as "Congo red" the results are negative. In amyloidosis the results are positive because the dye is absorbed by the amyloids. Treatment is generally determined by the severity of the kidney problems.
Question:  What is (are) Pigmented villonodular synovitis ?
Answer: Pigmented villonodular synovitis (PVNS) is a disease in which the tissue lining the joints and tendons in the body (synovium) grows abnormally. It is characterized by a noncancerous mass or tumor. There are two types of PVNS: the local or nodular form (where the tumor involves the tendons that support the joint, or in one area of the joint) and the diffuse form (where the entire lining of the joint is involved). Symptoms might include: pain, limitation of movement, and locking of the joint. In some cases, the normal joint structure can be destroyed. The knee is most commonly affected by this condition, though it can occur in other joints such as the hip, shoulder, elbow, ankle, wrist, and rarely the jaw. The average age of diagnosis for this condition is 35 years. The cause of PVNS is grossly unknown. Treatment involves surgery to remove the tumor and damaged portions of the synovium.
Question:  What causes Pigmented villonodular synovitis ?
Answer: What causes pigmented villonodular synovitis? The exact cause of pigmented villonodular synovitis (PVNS) is unknown.  Some doctors believe that it is similar to arthritis, arising from swelling (inflammation) of the joint tissue. Others believe it develops like a tumor, caused by cells growing and multiplying more quickly than usual. The association between a history of trauma and the development of  PVNS is unclear. One study found that 56% of individuals with PVNS had a history of previous trauma, while other studies have found a much lower incidence.  There have been studies suggesting that PVNS could be caused by specific genetic changes in the cells lining the joint. More studies are needed to research this association.
Question:  How to diagnose Pigmented villonodular synovitis ?
Answer: How is pigmented villonodular synovitis diagnosed? Pigmented villonodular synovitis (PVNS) is diagnosed via physician examination, imaging studies, and sometimes surgical procedures. Imaging studies commonly used include: X-ray, MRI, and CT scan. MRI findings are diagnostic in more than 95% of patients. CT scan findings are additionally often diagnostic, though they might not show the extent of the disease. Other methods that might be utilized in the diagnostic process include joint aspiration, in which a needle is used to remove fluid from the joint and a biopsy, in which a small operation is completed to obtain a tissue sample.
Question:  What are the treatments for Pigmented villonodular synovitis ?
Answer: How might pigmented villonodular synovitis be treated? Pigmented villonodular synovitis is first treated with surgery to remove as much of the abnormal tissue growth as possible.  The type of surgery depends on the location and extent of the disease within the joint.  Radiation therapy is sometimes used to treat this condition if surgery is not an option, or if the condition returns (recurs) after an initial surgery.
Question:  What are the symptoms of Thumb deformity, alopecia, pigmentation anomaly ?
Answer: What are the signs and symptoms of Thumb deformity, alopecia, pigmentation anomaly? The Human Phenotype Ontology provides the following list of signs and symptoms for Thumb deformity, alopecia, pigmentation anomaly. 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 hair quantity 90% Aplasia/Hypoplasia of the thumb 90% Irregular hyperpigmentation 90% Short stature 90% Abnormality of dental morphology 50% Abnormality of the fingernails 50% Abnormality of the pinna 50% Camptodactyly of finger 50% Cognitive impairment 50% Hypopigmented skin patches 50% Neurological speech impairment 50% Palmoplantar keratoderma 50% Triphalangeal thumb 50% Urticaria 50% Finger syndactyly 7.5% Alopecia - Autosomal dominant inheritance - Increased groin pigmentation with raindrop depigmentation - Intellectual disability - Short thumb - 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) Florid cemento-osseous dysplasia ?
Answer: Florid cemento-osseous dysplasia is characterized by lesions in the upper and/or lower jaw that occur when normal bone is replaced with a mix of connective tissue and abnormal bone. It tends to affect middle aged women, particularly women of African American and Asian descent. The lesions often affect both sides of the jaw and are symmetrical. The number, size, and shape of the lesions vary. Occasionally the lesions expand and may cause discomfort, pain, or mild disfigurement. The radiographic appearance of the lesions are important for diagnosis.
Question:  What are the symptoms of Florid cemento-osseous dysplasia ?
Answer: What are the signs and symptoms of Florid cemento-osseous dysplasia? Usually florid cemento-osseous dysplasia causes no signs or symptoms and is identified incidentally during a radiograph taken for some other purpose. Occasionally however, the lesions expand causing discomfort, pain, and/or mild disfigurement. The Human Phenotype Ontology provides the following list of signs and symptoms for Florid cemento-osseous dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Cementoma - Misalignment of teeth - Multiple impacted teeth - 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 Florid cemento-osseous dysplasia ?
Answer: What causes florid cemento-osseous dysplasia? The cause of florid cemento-osseous dysplasia is not known. This condition is usually not familial (i.e., does not tend to run in families), however a rare familial form has been described in a few families. In these families the condition affected younger individuals, and the rate of lesion growth was rapid.
Question:  How to diagnose Florid cemento-osseous dysplasia ?
Answer: How is florid cemento-osseous dysplasia diagnosed? Diagnosis of cemento-osseous dysplasia relies on the radiographic findings of the lesions as well as the clinical signs and symptoms. Careful assessment and examination must be made to differentiate cemento-osseous dysplasia from other lesions with similar appearance, namely Paget's disease, chronic diffuse sclerosing osteomyelitis, fibrous dysplasia, osteosarcoma, periapical cemental dysplasia.
Question:  What are the treatments for Florid cemento-osseous dysplasia ?
Answer: How might florid cemento-osseous dysplasia be treated? In many cases florid cemento-osseous dysplasia does not require treatment, however careful follow-up may be warranted. When the condition causes discomfort, pain, or disfigurement, the treatment plan is tailored to the patient. The following article describes the treatment of florid cemento-osseous dysplasia in one patient. We recommend that you speak with your dentist to learn more about your treatment options and for referrals to local specialists. Minhas G, Hodge T, Gill DS. Orthodontic treatment and cemento-osseous dysplasia: a case report. J Orthod. 2008 Jun;35(2):90-5. You can also use the following tools to help you find specialists in your area. The Academy of General Dentistry has a tool for finding member dentists in your area.  http://www.knowyourteeth.com/findadentist/ The American Association of Oral and Maxillofacial Surgeons offers the following tool for finding member oral and maxillofacial surgeons in your area. http://www.aaoms.org/findoms.php Sometimes with more rare diseases, it can be helpful to have an evaluation with a specialist at a major university hospital or academic medical center. Such facilities often have access to up-to-date testing and technology, a large group of health care providers and specialists to consult with, and research opportunities.
Question:  What is (are) Frank Ter Haar syndrome ?
Answer: Frank-Ter Haar syndrome is a rare inherited condition characterized by multiple skeletal abnormalities, developmental delay, and characteristic facial features (unusually large cornea, flattened back of the head, wide fontanels, prominent forehead, widely spaced eyes, prominent eyes, full cheeks, and small chin). Less than 30 cases have been reported worldwide. Protruding ears, prominent coccyx bone (or tail bone), and congenital heart defects are also frequently present. This condition is caused by mutations in the SH3PXD2B gene and is thought to be inherited in an autosomal recessive fashion.