sarnsrun/medquadmini huggingface dataset:
Question:
What are the treatments for Lipoid proteinosis of Urbach and Wiethe ?

Answer:
How might lipoid proteinosis of Urbach and Wiethe be treated? There is currently no cure for lipoid proteinosis (LP) of Urbach and Wiethe. Treatment is based on the signs and symptoms present in each person. The skin abnormalities found in people affected by LP may be treated with certain medications, including corticosteriods, dimethyl sulfoxide; or d-penicillamine. An additional medication called acitretin can be used to treat hoarseness and some skin problems. Anticonvulsant medications are often prescribed for people with seizures. The success of these medications in treating the signs and symptoms of LP varies. Affected people with growths on their vocal cords or eyelids may be treated with carbon dioxide laser surgery. Dermabrasion (removal of the top layer of skin) may also improve the appearance of skin abnormalities.
Question:
What are the symptoms of Achondroplasia and Swiss type agammaglobulinemia ?

Answer:
What are the signs and symptoms of Achondroplasia and Swiss type agammaglobulinemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Achondroplasia and Swiss type agammaglobulinemia. 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) Cellular immunodeficiency 90% Lymphopenia 90% Recurrent respiratory infections 90% Fine hair 50% Reduced bone mineral density 50% Short stature 50% Abnormality of the fibula 7.5% Abnormality of the pancreas 7.5% Aganglionic megacolon 7.5% Anemia 7.5% Cognitive impairment 7.5% Hernia of the abdominal wall 7.5% Hypopigmentation of hair 7.5% Malabsorption 7.5% Pectus excavatum 7.5% Abnormality of the thorax - Agammaglobulinemia - Autosomal recessive inheritance - Death in childhood - Hypoplasia of the thymus - Metaphyseal chondrodysplasia - Severe combined immunodeficiency - 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) Sialadenitis ?

Answer:
Sialadenitis is an infection of the salivary glands. It is usually caused by a virus or bacteria. The parotid (in front of the ear) and submandibular (under the chin) glands are most commonly affected. Sialadenitis may be associated with pain, tenderness, redness, and gradual, localized swelling of the affected area. There are both acute and chronic forms. Although it is quite common among elderly adults with salivary gland stones, sialadenitis can also occur in other age groups, including infants during the first few weeks of life. Without proper treatment, sialadenitis can develop into a severe infection, especially in people who are debilitated or elderly.
Question:
What are the symptoms of Sialadenitis ?

Answer:
What are the signs and symptoms of sialadenitis? Signs and symptoms of sialadenitis may include fever, chills, and unilateral pain and swelling in the affected area. The affected gland may be firm and tender, with redness of the overlying skin. Pus may drain through the gland into the mouth.
Question:
What causes Sialadenitis ?

Answer:
What causes sialadenitis? Sialadenitis usually occurs after hyposecretion (reduced flow from the salivary glands) or duct obstruction, but may develop without an obvious cause. Saliva flow can be reduced in people who are sick or recovering from surgery, or people who are dehydrated, malnourished, or immunosuppressed. A stone or a kink in the salivary duct can also diminish saliva flow, as can certain medications (such as antihistamines, diuretics, psychiatric medications, beta-blockers, or barbiturates). It often occurs in chronically ill people with xerostomia (dry mouth), people with Sjogren syndrome, and in those who have had radiation therapy to the oral cavity. The most common causative organism in the infection is Staphylococcus aureus; others include streptococci, coliforms, and various anaerobic bacteria. Although less common than bacteria, several viruses have also been implicated in sialadenitis. These include the mumps virus, HIV, coxsackievirus, parainfluenza types I and II, influenza A, and herpes.
Question:
What are the treatments for Sialadenitis ?

Answer:
How might sialadenitis be treated? The initial treatment for sialadenitis is antibiotics active against S. aureus. Hydration, ingesting things that trigger saliva flow (such as lemon juice or hard candy), warm compresses, gland massage, and good oral hygiene are also important. Abscesses need to be drained. Occasionally, in cases of chronic or relapsing sialadenitis, a superficial parotidectomy or submandibular gland excision is needed.
Question:
What are the symptoms of Dystonia 1 ?

Answer:
What are the signs and symptoms of Dystonia 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Dystonia 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) Gait disturbance 90% Hypertonia 90% Abnormality of the voice 50% Incomplete penetrance 30% Abnormal posturing - Autosomal dominant inheritance - Blepharospasm - Dysarthria - Hyperlordosis - Kyphosis - Muscular hypotonia - Scoliosis - Torsion dystonia - Torticollis - Tremor - Writer's cramp - 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) Congenital porphyria ?

Answer:
Congenital erythropoietic porphyria (CEP) is the rarest porphyria and is commonly seen in infancy, although it may begin in adulthood.  It is characterized by severe skin photosensitivity that may lead to scarring, blistering, and increased hair growth at the face and back of the hands. Photosensitivity and infection may cause the loss of fingers and facial features. Symptoms of CEP range from mild to severe and may include hypertrichosis, reddish discoloration of the teeth, anemia, and reddish-colored urine. In CEP, there is a defect in the synthesis of heme within the red blood cells of bone marrow. This defect leads to an increase in the buildup and, therefore, waste of porphyrin and its precursors, which leads to the signs and symptoms. Treatment for CEP may include activated charcoal or a bone marrow transplant, which can improve the anemia and future blister or scar formations from photosensitivity. Blood transfusions or spleen removal may also reduce the amount of porphyrin produced from bone marrow. This condition is inherited in an autosomal recessive fashion and is caused by mutations in the UROS gene.
Question:
What are the symptoms of Congenital porphyria ?

Answer:
What are the signs and symptoms of Congenital porphyria? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital porphyria. 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 blistering of the skin 90% Abnormality of dental color 90% Abnormality of the heme biosynthetic pathway 90% Abnormality of urine homeostasis 90% Cutaneous photosensitivity 90% Hemolytic anemia 90% Hypertrichosis 90% Self-injurious behavior 90% Splenomegaly 90% Abnormality of immune system physiology 50% Recurrent fractures 50% Reduced bone mineral density 50% Thrombocytopenia 7.5% Abnormality of the mouth - Alopecia - Atypical scarring of skin - Autosomal recessive inheritance - Cholelithiasis - Congenital onset - Conjunctivitis - Corneal scarring - Hyperpigmentation of the skin - Hypopigmentation of the skin - Joint contracture of the hand - Loss of eyelashes - Osteolysis - Osteopenia - Pathologic fracture - Scleroderma - Short stature - Thickened skin - Vertebral compression fractures - 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) Chromosome 12q deletion ?

Answer:
Chromosome 12q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 12. 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 12q 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 is (are) Pulmonary arterial hypertension ?

Answer:
Pulmonary arterial hypertension (PAH) is a progressive condition that affects the heart and lungs. It is characterized by abnormally high blood pressure (hypertension) in the pulmonary artery, the blood vessel that carries blood from the heart to the lungs. The most common signs and symptoms are shortness of breath (dyspnea) during exertion and fainting spells. As the condition worsens, people can experience dizziness, swelling (edema) of the ankles or legs, chest pain, and a racing pulse. Most cases of PAH occur in individuals with no family history of the disorder. Although some cases are due to mutations in the BMPR2 gene and inherited in an autosomal dominant pattern, a gene mutation has not yet been identified in most individuals. When PAH is inherited from an affected relative it is called "familial" PAH. Cases with no identifiable cause may be referred to as "idiopathic" PAH. PAH can also occur secondary to an underlying disorder such as connective tissue diseases, HIV infection, chronic hemolytic anemia, and congenital heart disease, to name a few. PAH can also be induced by certain drugs and toxins, for example fenfluramine and dexfenfluramine (appetite suppressants now banned by the FDA), toxic rapeseed oil, and amphetamines.
Question:
What are the symptoms of Pulmonary arterial hypertension ?

Answer:
What are the signs and symptoms of Pulmonary arterial hypertension? The Human Phenotype Ontology provides the following list of signs and symptoms for Pulmonary arterial hypertension. 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) Pulmonary hypertension 100% Chest pain 90% Elevated right atrial pressure 90% Increased pulmonary vascular resistance 90% Respiratory insufficiency 90% Right ventricular failure 90% Right ventricular hypertrophy 90% Edema of the lower limbs 50% Hepatomegaly 50% Vertigo 50% Abnormal thrombosis 33% Dyspnea 33% Pulmonary arterial medial hypertrophy 33% Pulmonary artery vasoconstriction 33% Pulmonary aterial intimal fibrosis 33% Abnormality of the tricuspid valve 7.5% Acrocyanosis 7.5% Ascites 7.5% Congestive heart failure 7.5% Hemoptysis 7.5% Recurrent respiratory infections 7.5% Sudden cardiac death 7.5% Arterial intimal fibrosis - Autosomal dominant inheritance - Hypertension - Incomplete penetrance - Telangiectasia - 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 Pulmonary arterial hypertension ?

Answer:
How might pulmonary arterial hypertension be treated? People with pulmonary arterial hypertension (PAH) benefit from receiving treatment at specialized centers. The Pulmonary Hypertension Association offers a Find a Doctor tool which may aid you in locating your nearest center. Treatment of serious or life threatening PAH may involve continuous IV epoprostenol. Other treatment options, include treprostinil, iloprost, bosentan, ambrisentan, sildenafil, and tadalafil. Many of these treatments can be administered in various forms, such as by shot, IV, or inhalation. A small number of people with PAH respond well to long term oral calcium channel blockers. Blood thinners, diuretics, and supplemental oxygen may be prescribed as needed. Many drugs can be harmful to people with PAH. The following should be avoided: appetite suppressants, cocaine, amphetamines (and related compounds), low oxygen environments (such as high altitudes), and possibly estrogen compounds (oral contraceptives and hormone replacement therapy).
Question:
What is (are) Periodic fever, aphthous stomatitis, pharyngitis and adenitis ?

Answer:
Periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis (PFAPA) is a periodic disease, which is a heterogeneous group of disorders characterized by short episodes of illness that regularly recur for several years alternated with healthy periods. PFAPA is characterized by high fevers lasting three to six days and recurring every 21 to 28 days, accompanied by some or all of the signs noted in its name, namely mouth sores (aphthous stomatitis), sore throat (pharyngitis), and enlarged lymph nodes (cervical adenitis). The syndrome usually occurs in children younger than five years; although it has been reported in children up to 13 years. The syndrome is sporadic and non-hereditary. The course of PFAPA can be persistent for years before spontaneous, full resolution.
Question:
What are the symptoms of Periodic fever, aphthous stomatitis, pharyngitis and adenitis ?

Answer:
What are the signs and symptoms of Periodic fever, aphthous stomatitis, pharyngitis and adenitis? The Human Phenotype Ontology provides the following list of signs and symptoms for Periodic fever, aphthous stomatitis, pharyngitis and adenitis. 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 temperature regulation 90% Abnormality of the oral cavity 90% Arthralgia 90% Behavioral abnormality 90% Encephalitis 90% Lymphadenopathy 90% Migraine 90% Recurrent pharyngitis 90% Weight loss 90% Abdominal pain 7.5% Arthritis 7.5% Hepatomegaly 7.5% Malabsorption 7.5% Nausea and vomiting 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 causes Periodic fever, aphthous stomatitis, pharyngitis and adenitis ?

Answer:
What causes periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis (PFAPA)? The cause of PFAPA is unknown, although viral or autoimmune causes have been suggested.
Question:
How to diagnose Periodic fever, aphthous stomatitis, pharyngitis and adenitis ?

Answer:
How is periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis (PFAPA) diagnosed? There are no laboratory tests or imaging procedures specific to the diagnosis of PFAPA. This condition is clinically diagnosed in individuals who have a history of 3 or more episodes of fevers that last up to 5 days and recur at regular intervals without other evidence of acute illness. Pharyngitis (sore throat) plus adenopathy (swollen lymph nodes) or aphthous ulcers (canker sores) are also noted. Blood tests like white blood cell count, C-reactive protein, and erythrocyte sedimentation rate (ESR) are often elevated during an acute attack (but normal between attacks). It is important to rule out other conditions that may present with similar symptoms (for example, strep throat). The dramatic response to treatment can help to confirm the diagnosis.
Question:
What are the treatments for Periodic fever, aphthous stomatitis, pharyngitis and adenitis ?

Answer:
How might periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis be treated? Treatment options that have been successful in improving symptoms of this condition include: oral steroids (prednisone or prednisolone), tonsillectomy with adenoidectomy and cimetidine.
Question:
What is (are) X-linked dominant scapuloperoneal myopathy ?

Answer:
X-linked scapuloperoneal myopathy is an inherited muscular dystrophy characterized by weakness and wasting of the muscles in the lower legs and the area of the shoulder blades. In some individuals, facial muscles may also be affected. While the progression varies from case to case, it tends to be relatively slow. Some cases of scapuloperoneal myopathy are caused by mutations in the FHL1 gene. These cases are inherited in an X-linked dominant manner. Treatment is symptomatic and supportive.
Question:
What are the symptoms of X-linked dominant scapuloperoneal myopathy ?

Answer:
What are the signs and symptoms of X-linked dominant scapuloperoneal myopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked dominant scapuloperoneal 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) Adult onset - Arrhythmia - Autosomal dominant inheritance - Elevated serum creatine phosphokinase - EMG: myopathic abnormalities - Flexion contracture - Foot dorsiflexor weakness - Hyporeflexia - Lower limb muscle weakness - Myofibrillar myopathy - Scapular winging - Scapuloperoneal myopathy - Skeletal muscle atrophy - Slow progression - Steppage gait - Waddling gait - Weakness of facial musculature - 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 causes X-linked dominant scapuloperoneal myopathy ?

Answer:
What causes X-linked dominant scapuloperoneal myopathy? X-linked dominant scapuloperoneal myopathy is caused by mutations in the FHL1 gene. The FHL1 gene is located on chromosome Xq26. This gene may be involved in muscle development or hypertrophy.
Question:
What are the treatments for X-linked dominant scapuloperoneal myopathy ?

Answer:
How might scapuloperoneal myopathy be treated? There is no standard course of treatment for scapuloperoneal myopathy. Some patients may benefit from physical therapy or other therapeutic exercises.