sarnsrun/medquadmini huggingface dataset:
Question:
What is (are) Transient neonatal diabetes mellitus ?

Answer:
Transient neonatal diabetes mellitus (TNDB) is a type of diabetes that appears within the first few weeks of life but is transient; affected infants go into remission within a few months, with possible relapse to permanent diabetes in adolescence or adulthood. Affected individuals have slow growth before birth followed by hyperglycemia, dehydration and failure to thrive in infancy. Approximately 70% of cases are caused by the overactivity of certain genes in a region of the long (q) arm of chromosome 6 called 6q24. These cases are referred to as 6q24-related TNDB; most (but not all) of these cases are not inherited. Other genetic causes include mutations in the KCNJ11 and ABCC8 genes, which usually cause permanent neonatal diabetes. Treatment may include rehydration and intravenous insulin at the time of diagnosis, followed by subcutaneous insulin.
Question:
What are the symptoms of Transient neonatal diabetes mellitus ?

Answer:
What are the signs and symptoms of Transient neonatal diabetes mellitus? The Human Phenotype Ontology provides the following list of signs and symptoms for Transient neonatal diabetes mellitus. 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) Type II diabetes mellitus 2/7 Autosomal dominant inheritance - Dehydration - Hyperglycemia - Intrauterine growth retardation - Severe failure to thrive - Transient neonatal diabetes mellitus - 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 Tuberous sclerosis, type 1 ?

Answer:
What are the signs and symptoms of Tuberous sclerosis, type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Tuberous sclerosis, 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) Intellectual disability 30% Abnormality of the respiratory system - Achromatic retinal patches - Astrocytoma - Attention deficit hyperactivity disorder - Autism - Autosomal dominant inheritance - Cafe-au-lait spot - Cerebral calcification - Chordoma - Dental enamel pits - Ependymoma - Gingival fibromatosis - Hypomelanotic macule - Hypothyroidism - Infantile spasms - Optic glioma - Phenotypic variability - Precocious puberty - Premature chromatid separation - Projection of scalp hair onto lateral cheek - Renal angiomyolipoma - Renal cell carcinoma - Renal cyst - Shagreen patch - Specific learning disability - Subcutaneous nodule - Subependymal nodules - Subungual fibromas - Wolff-Parkinson-White syndrome - 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) Chronic inflammatory demyelinating polyneuropathy ?

Answer:
Chronic inflammatory demyelinating polyneuropathy (CIDP) is a neurological disorder that causes progressive weakness and impaired sensory function in the legs and arms. Symptoms often include tingling or numbness (first in the toes and fingers); weakness of the arms and legs; loss of deep tendon reflexes; fatigue; and abnormal sensations. CIDP is thought to be caused by an abnormal immune response in which the immune system mistakenly attacks and damages the myelin sheath (the covering that protects nerve fibers) of the peripheral nerves. CIDP is closely related to Guillain-Barre syndrome (GBS) and is considered the "chronic counterpart" of GBS. Treatment may include corticosteroids, immunosuppressant drugs, plasma exchange, physiotherapy, and/or intravenous immunoglobulin (IVIG) therapy.
Question:
What are the symptoms of Chronic inflammatory demyelinating polyneuropathy ?

Answer:
What are the signs and symptoms of Chronic inflammatory demyelinating polyneuropathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Chronic inflammatory demyelinating polyneuropathy. 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) Acute demyelinating polyneuropathy - 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 Chronic inflammatory demyelinating polyneuropathy ?

Answer:
What causes chronic inflammatory demyelinating polyneuropathy (CIDP)? The exact underlying cause of CIDP is unknown, but there is evidence to support that it is related to the immune system and may have multiple triggers. It is thought to be caused by an abnormal immune response in which the immune system mistakenly attacks and damages the myelin sheath (the covering that protects nerve fibers) of the peripheral nerves. However, no specific provoking antigens or other predisposing factors for CIDP have been identified. In several case reports, treatment with tumor necrosis factor-alpha inhibitors has been associated with the subsequent development of chronic demyelinating neuropathies.
Question:
Is Chronic inflammatory demyelinating polyneuropathy inherited ?

Answer:
Is chronic inflammatory demyelinating polyneuropathy (CIDP) inherited? CIDP is not known to be inherited and is considered an acquired disorder. No clear genetic predisposition or other predisposing factors for CIDP have been identified.
Question:
What are the treatments for Chronic inflammatory demyelinating polyneuropathy ?

Answer:
How might chronic inflammatory demyelinating polyneuropathy (CIDP) be treated? The standard therapies for CIDP appear to be equally effective and include: intravenous immune globulin (IVIG) - adds large numbers of antibodies to the blood plasma to reduce the effect of the antibodies that are causing the problem glucocorticoids - help reduce inflammation and relieve symptoms plasma exchange - remove antibodies from the blood The treatment choice is influenced by the preference of the affected person, side effects, treatment cost, duration, ease of administration, and availability. Advantages and disadvantages of standard therapies may include the following: IVIG and plasma exchange may lead to a more rapid improvement in CIDP than glucocorticoid therapy, but are less likely than glucocorticoids to produce a remission IVIG is expensive, and its supply is sometimes limited Glucocorticoids are inexpensive, but chronic use is limited by common and important side effects Plasma exchange is expensive, invasive, and available only at specialized centers Other medications that suppress the immune system (immunosuppressants) may also be used. Physiotherapy may improve muscle strength, function and mobility.
Question:
What is (are) Parkes Weber syndrome ?

Answer:
Parkes Weber syndrome (PWS) is a rare congenital condition causing an individual to have a large number of abnormal blood vessels. The main characteristics of PWS typically include a capillary malformation on the skin; hypertrophy (excessive growth) of the bone and soft tissue of the affected limb; and multiple arteriovenous fistulas (abnormal connections between arteries and veins) which can potentially lead to heart failure. Individuals may also have pain in the affected limb and a difference in size between the limbs. There has been evidence that some cases of PWS are caused by mutations in the RASA1 gene and are inherited in an autosomal dominant manner. Management typically depends on the presence and severity of symptoms and may include embolization or surgery in the affected limb.
Question:
What are the symptoms of Parkes Weber syndrome ?

Answer:
What are the signs and symptoms of Parkes Weber syndrome? Parkes Weber syndrome is characterized by birthmarks caused by capillary malformations on the skin; hypertrophy (excessive growth) of the bone and soft tissue of the affected limb (which may lead to a difference in size between the affected and non-affected limb); and multiple arteriovenous fistulas (abnormal connections between arteries and veins). The Human Phenotype Ontology provides the following list of signs and symptoms for Parkes Weber 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 coagulation 90% Abnormality of limb bone morphology 90% Lower limb asymmetry 90% Peripheral arteriovenous fistula 90% Skeletal muscle hypertrophy 90% Telangiectasia of the skin 90% Venous insufficiency 50% Congestive heart failure 7.5% Glaucoma 7.5% Hemiplegia/hemiparesis 7.5% Migraine 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 are the treatments for Parkes Weber syndrome ?

Answer:
How might Parkes Weber syndrome be treated? For capillary malformations (such as port wine stains) that are of cosmetic concern, individuals may be referred to a dermatologist. For arteriovenous malformations (AVMs) and arteriovenous fistulas (AVFs), the risks and benefits of intervention (i,e, embolization versus surgery) may be considered, usually with input from a multi-disciplinary team (e.g., specialists in interventional radiology, neurosurgery, surgery, cardiology, and dermatology). For risks associated with heart failure, referral to a cardiologist may be warranted. Hypertrophy (overgrowth) of the limb and/or difference in size between limbs may be treated surgically by an orthopedist. Supportive care may include compression garments (tight-fitting pieces of clothing on the affected limb to reduce pain and swelling); these may also protect the limb from bumps and scrapes, which can cause bleeding. Heel inserts may be used if the legs are different lengths, which can aid in walking normally. Various pain medications and antibiotic medications may be prescribed as needed.
Question:
What is (are) Multifocal choroiditis ?

Answer:
Multifocal choroiditis (MFC) is an inflammatory disorder characterized by swelling of the eye (called uveitis) and multiple lesions in the choroid, a layer of blood vessels between the white of the eye and the retina. Symptoms include blurry vision, floaters, sensitivity to light, blind spots and mild eye discomfort. Though the cause is unknown, multifocal choroiditis is seen most frequently in women ages 20 to 60, and usually affects both eyes. MFC is generally treated with steroid medication that can be taken orally or injected into the eye. Multifocal choroiditis is a chronic condition, thus symptoms may return or worsen even after successful treatment.
Question:
What are the symptoms of Multifocal choroiditis ?

Answer:
What are the signs and symptoms of multifocal choroiditis? Multifocal choroiditis (MFC) generally causes blurry vision with or without sensitivity to light. Other common symptoms include blind spots, floaters, eye discomfort and perceived flashes of light. Clinical examination by an ophthalmologist reveals inflammation in the front, middle and/or back layers of the eye with multiple scattered yellow/gray-white spots in the choroid and retina. A subset of people with this condition also develop choroidal neovascular membranes (CNVMs), new blood vessels that can cause more severe vision loss.
Question:
What causes Multifocal choroiditis ?

Answer:
What causes multifocal choroiditis? Multifocal choroiditis occurs spontaneously and the cause is not currently known (idiopathic). It is possible that a bacterial or viral infection may trigger an immune response that causes the inflammation seen with MFC, though more research is needed in this area.
Question:
How to diagnose Multifocal choroiditis ?

Answer:
How is multifocal choroiditis diagnosed? Multifocal choroiditis (MFC) is diagnosed by an ophthalmologist, using a series of imaging techniques. A test called flourescein angiography uses a special dye and camera to study blood flow in the back layers of the eye. When a person has MFC, lesions in the eye will appear as fluorescent spots. Vision tests may also show an enlarged blind spot or a decrease in visual clarity. Often, doctors may order blood tests to check if the symptoms are caused by a viral disease rather than MFC.
Question:
What are the treatments for Multifocal choroiditis ?

Answer:
How might multifocal choroiditis be treated? Multifocal choroiditis (MFC) is generally treated with steroid medication that can be taken orally or injected into the affected eye. These treatments may be successful in managing symptoms, though there is no permanent cure for the disease and symptoms may return. If a person no longer responds to steroid treatment, drugs that suppress the immune system, such as cyclosporine, may be recommended. People with more severe vision loss may also benefit from laser therapy. Frequent monitoring by an ophthalmologist is recommended to determine how well treatment is working.
Question:
What is (are) Osteogenesis imperfecta ?

Answer:
Osteogenesis imperfecta (OI) is a group of genetic disorders that mainly affect the bones. People with this condition have bones that break easily, often from little or no trauma. Severity varies among affected people. Multiple fractures are common, and in severe cases, can even occur before birth. Milder cases may involve only a few fractures over a person's lifetime. People with OI also have dental problems (dentinogenesis imperfecta) and hearing loss in adulthood. Other features may include muscle weakness, loose joints, and skeletal malformations. There are various recognized forms of OI which are distinguished by their features and genetic causes. Depending on the genetic cause, OI may be inherited in an autosomal dominant (more commonly) or autosomal recessive manner. Treatment is supportive and aims to decrease the number of fractures and disabilities.
Question:
What are the symptoms of Osteogenesis imperfecta ?

Answer:
What are the signs and symptoms of Osteogenesis imperfecta? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteogenesis imperfecta. 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 color 90% Abnormality of dentin 90% Abnormality of the metaphyses 90% Abnormality of the ribs 90% Abnormality of the tibia 90% Blue sclerae 90% Carious teeth 90% Convex nasal ridge 90% Decreased skull ossification 90% Gait disturbance 90% Intrauterine growth retardation 90% Macrocephaly 90% Pectus carinatum 90% Prominent occiput 90% Abnormal cortical bone morphology 50% Abnormal form of the vertebral bodies 50% Abnormality of the femur 50% Abnormality of the hip bone 50% Genu valgum 50% Glaucoma 50% Hyperhidrosis 50% Joint hypermobility 50% Narrow chest 50% Opacification of the corneal stroma 50% Reduced bone mineral density 50% Scoliosis 50% Slender long bone 50% Triangular face 50% Visual impairment 50% Abnormality of the endocardium 7.5% Hearing impairment 7.5% Kyphosis 7.5% Micromelia 7.5% Pectus excavatum 7.5% Recurrent fractures 7.5% Short stature 7.5% Subcutaneous hemorrhage 7.5% Thrombocytopenia 7.5% Umbilical hernia 7.5% Visceral angiomatosis 7.5% Wormian bones 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 causes Osteogenesis imperfecta ?

Answer:
What causes osteogenesis imperfecta? Osteogenesis imperfecta (OI) may be caused by changes (mutations) in any of several genes. OI is most commonly due to a mutation in either the COL1A1 or COL1A2 gene, causing OI types I through IV. These genes play a role in how the body makes collagen, a material that helps to strengthen the bones. The type and severity of OI depends on the effect that the specific mutation has on normal collagen production. OI caused by mutations in these genes is inherited in an autosomal dominant manner. In about 10% of people with OI, the COL1A1 and COL1A2 genes are normal and the condition is due to mutations in other genes; many of these people have an autosomal recessive form of OI. Other genes in which mutations may be responsible for less common types of OI, some of which have been reported in only one individual or family, include: IFITM5 (type V) SERPINF1 (type VI) CRTAP (type VII) LEPRE1, also called P3H1 (type VIII) PPIB (type IX) SERPINH1 (type X) FKBP10 (type XI) SP7 (type XII) BMP1 (type XIII) TMEM38B (type XIV) WNT1 (type XV) SPARC (type XVII)
Question:
Is Osteogenesis imperfecta inherited ?

Answer:
How is osteogenesis imperfecta inherited? Osteogenesis imperfecta (OI) is most commonly inherited in an autosomal dominant manner. This means that having only one changed (mutated) copy of the responsible gene in each cell is enough to cause features of OI. The mutated copy of the gene may be inherited from an affected parent, or it may occur for the first time in an affected person (a de novo mutation). When a person with an autosomal dominant form of OI has children, each child has a 50% (1 in 2) chance of inheriting the mutated gene. If the child inherits the mutated gene, the child's symptoms may be milder, or more severe, than those of the parent. Less commonly, OI is inherited in an autosomal recessive manner. This means that both copies of the responsible gene in each cell must have a mutation for a person to be affected. The parents of a person with an autosomal recessive condition typically are unaffected, but each carry one mutated copy of the gene. When two carriers of an autosomal recessive form of OI have children, each child has a 25% (1 in 4) chance to be affected, a 50% (1 in 2) chance to be a carrier like each parent, and a 25% chance to be unaffected and not be a carrier.
Question:
How to diagnose Osteogenesis imperfecta ?

Answer:
Is genetic testing available for osteogenesis imperfecta? Genetic testing is available for individuals with osteogenesis imperfecta. The rate for detecting mutations in the genes that are responsible for OI varies depending on the type. Carrier testing may be available to relatives of affected individuals if the type of OI, disease-causing gene, and specific mutation in the affected individual are known. Prenatal testing for at-risk pregnancies can be performed by analysis of collagen made by fetal cells obtained by chorionic villus sampling (CVS) at about ten to 12 weeks' gestation if an abnormality of collagen has been identified in cells from the affected individual. Analysis of collagen after an amniocentesis (usually performed at 15-20 weeks gestation) is not useful, because the cells obtained do not produce type I collagen. However, prenatal testing can be performed by analyzing the genes (molecular genetic testing) if the specific mutation has been identified in the affected relative. GeneTests lists the names of laboratories that are performing genetic testing for different types of osteogenesis imperfecta. To view the contact information for the clinical laboratories conducting testing, click here and click on "Testing" next to the type of OI in which you are interested. Please note that most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or genetics professional. Genetics professionals, such as genetic counselors, can also explain the inheritance of OI in detail including information about genetic risks to specific family members.