falan42/medcuad_data huggingface dataset:
Topic: Sialadenitis
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.
(Source: GARD)
Topic: Dystonia 1
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.
(Source: GARD)
Topic: Congenital porphyria
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.
(Source: GARD)
Topic: Congenital porphyria
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.
(Source: GARD)
Topic: Chromosome 12q deletion
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.
(Source: GARD)
Topic: Pulmonary arterial hypertension
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.
(Source: GARD)
Topic: Pulmonary arterial hypertension
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.
(Source: GARD)
Topic: Pulmonary arterial hypertension
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).
(Source: GARD)
Topic: Periodic fever, aphthous stomatitis, pharyngitis and adenitis
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.
(Source: GARD)
Topic: Periodic fever, aphthous stomatitis, pharyngitis and adenitis
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.
(Source: GARD)
Topic: Periodic fever, aphthous stomatitis, pharyngitis and adenitis
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.
(Source: GARD)
Topic: Periodic fever, aphthous stomatitis, pharyngitis and adenitis
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.
(Source: GARD)
Topic: Periodic fever, aphthous stomatitis, pharyngitis and adenitis
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.
(Source: GARD)
Topic: X-linked dominant scapuloperoneal myopathy
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.
(Source: GARD)
Topic: X-linked dominant scapuloperoneal myopathy
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.
(Source: GARD)
Topic: X-linked dominant scapuloperoneal myopathy
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.
(Source: GARD)
Topic: X-linked dominant scapuloperoneal myopathy
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.
(Source: GARD)
Topic: Ichthyosis hystrix, Curth Macklin type
Question: What are the symptoms of Ichthyosis hystrix, Curth Macklin type ?
Answer: What are the signs and symptoms of Ichthyosis hystrix, Curth Macklin type? The Human Phenotype Ontology provides the following list of signs and symptoms for Ichthyosis hystrix, Curth Macklin type. 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) Hyperkeratosis 90% Ichthyosis 90% Skin ulcer 90% Abnormality of the fingernails 50% Flexion contracture 50% Gangrene 7.5% Abnormality of metabolism/homeostasis - Autosomal 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.
(Source: GARD)
Topic: Tularemia
Question: What is (are) Tularemia ?
Answer: Tularemia is an infection common in wild rodents caused by the bacterium Francisella tularensis. It is transmitted to humans by contact with infected animal tissues or by ticks, biting flies, and mosquitoes. The condition is most common in North America and parts of Europe and Asia. It is very rare in the United States. The illness, which is characterized by fever, chills, headache, joint pain and muscle weakness, may continue for several weeks after symptoms begin. Streptomycin and tetracycline are commonly used to treat the infection.
(Source: GARD)
Topic: Tularemia
Question: What are the symptoms of Tularemia ?
Answer: What are the symptoms of tularemia? The symptoms of tularemia usually appear 3 to 5 days after exposure to the bacteria, but can take as long as 14 days. Symptoms may include: Fever  Chills Headache  Diarrhea Muscle pains  Joint stiffness  Dry cough Progressive weakness Sweating  Weight loss  People can also catch pneumonia and develop chest pain, bloody sputum and can have trouble breathing and even sometimes stop breathing. Other symptoms of tularemia depend on how a person was exposed to the tularemia bacteria. These symptoms can include ulcers on the skin or mouth, swollen and painful lymph glands, swollen and painful eyes, and a sore throat.
(Source: GARD)
Topic: Tularemia
Question: What causes Tularemia ?
Answer: What causes tularemia? Tularemia is caused by the bacterium Francisella tularensis found in animals (especially rodents, rabbits, and hares). Humans can get the disease through: Direct contact, through a break in the skin, with an infected animal or its dead body The bite of an infected tick, horsefly, or mosquito Eating infected meat (rare) Breathing in the bacteria, F. tularensis Tularemia is not known to be spread from person to person. People who have tularemia do not need to be isolated.
(Source: GARD)
Topic: Tularemia
Question: What are the treatments for Tularemia ?
Answer: How is tularemia treated? The goal of treatment is to cure the infection with antibiotics. Streptomycin and tetracycline are commonly used to treat this infection. Once daily gentamycin treatment has been tried with excellent results as an alternative therapy to streptomycin. However, only a few cases have been studied to date. Tetracycline and Chloramphenicol can be used alone, but they are not considered a first-line treatment.
(Source: GARD)