falan42/medcuad_data huggingface dataset:
Topic: VLCAD deficiency
Question: How to diagnose VLCAD deficiency ?
Answer: How is VLCAD deficiency diagnosed? A diagnosis of VLCAD deficiency may be suspected based on an abnormal newborn screen or the presence of characteristic signs and symptoms. In both of these cases, additional testing can then be ordered to further investigate the diagnosis. This testing may include specialized tests performed on a sample of blood, urine, skin cells, muscle, and/or liver tissue. Genetic testing for changes (mutations) in the ACADVL gene can confirm the diagnosis. GeneReview's Web site offers more specific information about the diagnosis of VLCAD deficiency. Please click on the link to access this resource.
(Source: GARD)
Topic: VLCAD deficiency
Question: What are the treatments for VLCAD deficiency ?
Answer: How might VLCAD deficiency be treated? Management of VLCAD deficiency depends on many factors, including the form of the condition and the specific signs and symptoms present. For example, people affected by the severe forms of the condition are typically placed on a low-fat, high-carbohydrate diet with frequent meals. Supplemental calories may be provided through medium-chain triglycerides (MCT oil). If hospitalization is necessary for acute episodes of hypoglycemia and/or metabolic crisis, intravenous glucose may be administered as an energy source. Periods of rhabdomyolysis may be treated with hydration and alkalization of the urine (decreasing the amount of acid you take in) to protect kidney function and to prevent acute kidney failure. Affected people are generally advised to avoid fasting, dehydration, and a high-fat diet.
(Source: GARD)
Topic: Irons Bhan syndrome
Question: What are the symptoms of Irons Bhan syndrome ?
Answer: What are the signs and symptoms of Irons Bhan syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Irons Bhan 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 the nail - Atria septal defect - Atrial flutter - Autosomal recessive inheritance - Broad nasal tip - Delayed speech and language development - Depressed nasal bridge - Epicanthus - High forehead - Hydrocele testis - Lymphedema - Oligohydramnios - Omphalocele - Overriding aorta - Patent ductus arteriosus - Prominent forehead - Round face - Severe hydrops fetalis - Telecanthus - Upslanted palpebral fissure - Vascular ring - Ventricular septal defect - 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: Dermatofibrosarcoma protuberans
Question: What is (are) Dermatofibrosarcoma protuberans ?
Answer: Dermatofibrosarcoma protuberans is an uncommon cancer in which tumors arise in the deeper layers of skin. The tumor usually starts as a small, firm patch of skin; it may be purplish, reddish, or flesh-colored. It is commonly found on the torso, usually in the shoulder and chest area. The tumor typically grows slowly but has a tendency to recur after being removed. It rarely spreads to other parts of the body. The cause of DFSP is unknown, but injury to the affected skin may be a predisposing factor. Treatment usually involves surgically removing the tumor. If the tumor is unable to be removed completely, additional therapy may be needed. Regular follow-up is important to monitor for recurrence.
(Source: GARD)
Topic: Dermatofibrosarcoma protuberans
Question: What are the symptoms of Dermatofibrosarcoma protuberans ?
Answer: What are the signs and symptoms of Dermatofibrosarcoma protuberans? The Human Phenotype Ontology provides the following list of signs and symptoms for Dermatofibrosarcoma protuberans. 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) Neoplasm of the skin 90% Sarcoma 90% Thickened skin 90% Skin ulcer 50% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
(Source: GARD)
Topic: Dermatofibrosarcoma protuberans
Question: What causes Dermatofibrosarcoma protuberans ?
Answer: What causes Dermatofibrosarcoma protuberans? The cause of DFSP is unknown but an injury to the affected skin may be a predisposing factor. Trauma at the affected site has been reported in approximately 10-20% of patients. Recent advances have shown that in approximately 90% of cases, dermatofibrosarcoma protuberans is associated with a rearrangement (translocation) of genetic material between chromosomes 17 and 22 which results in the fusion of two genes. The fused gene produces a protein which some believe may stimulate cells to multiply, leading to the tumor formation seen in dermatofibrosarcoma protuberans. This type of gene change is generally found only in tumor cells and is not inherited.
(Source: GARD)
Topic: Familial amyloidosis, Finnish type
Question: What is (are) Familial amyloidosis, Finnish type ?
Answer: Familial amyloidosis, Finnish type, or gelsolin amyloidosis, is a condition characterized by abnormal deposits of amyloid protein that mainly affect the eyes, nerves and skin. The 3 main features are amyloid deposits in the cornea (corneal lattice dystrophy), bilateral facial paralysis, and cutis laxa ("sagging" skin). Symptoms generally worsen with age. This condition is inherited in an autosomal dominant manner and is caused by mutations in the GSN gene. Treatment generally focuses on specific signs and symptoms. Plastic surgery may relieve problems caused by facial paralysis and cutis laxa.
(Source: GARD)
Topic: Dystonia 16
Question: What are the symptoms of Dystonia 16 ?
Answer: What are the signs and symptoms of Dystonia 16? The Human Phenotype Ontology provides the following list of signs and symptoms for Dystonia 16. 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) Cognitive impairment 5% Abnormal pyramidal signs - Autosomal recessive inheritance - Bradykinesia - Delayed speech and language development - Dysarthria - Dysphagia - Gait disturbance - Hyperreflexia - Involuntary movements - Laryngeal dystonia - Limb dystonia - Lower limb pain - Morphological abnormality of the pyramidal tract - Motor delay - Parkinsonism - Postural tremor - Progressive - Retrocollis - 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: Erythema multiforme
Question: What is (are) Erythema multiforme ?
Answer: Erythema multiforme (EM) refers to a group of hypersensitivity disorders characterized by symmetric red, patchy lesions, primarily on the arms and legs. The cause is unknown, but EM frequently occurs in association with herpes simplex virus, suggesting an immunologic process initiated by the virus. In half of the cases, the triggering agents appear to be medications, including anticonvulsants, sulfonamides, nonsteroidal anti-inflammatory drugs, and other antibiotics. In addition, some cases appear to be associated with infectious organisms such as Mycoplasma pneumoniae and many viral agents. Erythema multiforme is the mildest of three skin disorders that are often discussed in relation to each other. It is generally the mildest of the three. More severe is Stevens-Johnson syndrome. The most severe of the three is toxic epidermal necrolysis (TEN).
(Source: GARD)
Topic: Tricho-dento-osseous syndrome 1
Question: What are the symptoms of Tricho-dento-osseous syndrome 1 ?
Answer: What are the signs and symptoms of Tricho-dento-osseous syndrome 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Tricho-dento-osseous syndrome 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) Abnormality of dental color 90% Abnormality of dental enamel 90% Craniofacial hyperostosis 90% Frontal bossing 90% Increased bone mineral density 90% Taurodontia 90% Woolly hair 90% Abnormality of frontal sinus 50% Abnormality of the fingernails 50% Abnormality of the ulna 50% Aplasia/Hypoplasia of the radius 50% Carious teeth 50% Delayed eruption of teeth 50% Delayed skeletal maturation 50% Dolichocephaly 50% Malar prominence 50% Round face 50% Abnormality of the hair - Abnormality of the mastoid - Autosomal dominant inheritance - Fragile nails - Microdontia - Widely spaced 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.
(Source: GARD)
Topic: Tracheobronchomalacia
Question: What is (are) Tracheobronchomalacia ?
Answer: Tracheobronchomalacia (TBM) is a rare condition that occurs when the walls of the airway (specifically the trachea and bronchi) are weak. This can cause the airway to become narrow or collapse. There are two forms of TBM: a congenital form (called primary TBM) that typically develops during infancy or early childhood and an acquired form (called secondary TBM) that is usually seen in adults. Some affected people may initially have no signs or symptoms. However, the condition is typically progressive (becomes worse overtime) and most people will eventually develop characteristic features such as shortness of breath, cough, sputum retention (inability to clear mucus from the respiratory tract), and wheezing or stridor with breathing. Most cases of primary TBM are caused by genetic conditions that weaken the walls of the airway, while the secondary form often occurs incidentally due to trauma, chronic inflammation and/or prolonged compression of the airways. Treatment is generally only required in those who have signs and symptoms of the condition and may include stenting, surgical correction, continuous positive airway pressure (CPAP), and tracheostomy.
(Source: GARD)
Topic: Tracheobronchomalacia
Question: What are the symptoms of Tracheobronchomalacia ?
Answer: What are the signs and symptoms of tracheobronchomalacia? Tracheobronchomalacia (TBM) is a condition that occurs when the walls of the airway (specifically the trachea and bronchi) are weak. This can cause the airway to become narrow or collapse. There are two forms of TBM. Primary TBM (also called congenital TBM) typically develops during infancy or early childhood, while secondary TBM (also called acquired TBM) is usually seen in adults. Some affected people may initially have no signs or symptoms. However, the condition is typically progressive (becomes worse overtime) and many people will eventually develop characteristic features such as shortness of breath, cough, sputum retention (inability to clear mucus from the respiratory tract), and wheezing or stridor with breathing. Symptoms may become worse during periods of stress (i.e. illness), when reclining, or when forcing a cough. Infants and young children with TBM tend to have more frequent respiratory infections and delayed recovery from these illnesses.
(Source: GARD)
Topic: Tracheobronchomalacia
Question: What causes Tracheobronchomalacia ?
Answer: What causes tracheobronchomalacia? The underlying cause of tracheobronchomalacia (TBM) varies by subtype. Most cases of primary TBM (also called congenital TBM) are caused by genetic conditions that weaken the walls of the airway (specifically the trachea and bronchi). For example, TBM has been reported in people with mucopolysaccharidoses (such as Hunter syndrome and Hurler syndrome), Ehlers-Danlos Syndrome, and a variety of chromosome abnormalities. Primary TBM can also be idiopathic (unknown cause) or associated with prematurity and certain birth defects (i.e. tracheoesophageal fistula). The secondary form (also called acquired TBM) is caused by the degeneration (break down) of cartilage that typically supports the airways. It is most commonly associated with: Certain medical procedures such as endotracheal intubation or tracheostomy Conditions that lead to chronic (persisting or progressing for a long period of time) inflammation such as relapsing polychondritis or chronic obstructive pulmonary disease (COPD) Cancers, tumors, or cysts that cause prolonged compression of the airway
(Source: GARD)
Topic: Tracheobronchomalacia
Question: Is Tracheobronchomalacia inherited ?
Answer: Is tracheobronchomalacia inherited? Primary tracheobronchomalacia (TBM) is often associated with certain genetic conditions. In some cases, an affected person inherits the condition from an affected parent. Other cases may result from new (de novo) gene mutations. These cases occur in people with no history of the disorder in their family. When TBM is part of a genetic condition, it can be passed on to future generations. Secondary TBM (also called acquired TBM) is not inherited. It generally occurs incidentally due to trauma, chronic inflammation and/or prolonged compression of the airways.
(Source: GARD)
Topic: Tracheobronchomalacia
Question: How to diagnose Tracheobronchomalacia ?
Answer: How is tracheobronchomalacia diagnosed? A diagnosis of tracheobronchomalacia (TBM) may be suspected based on the presence of characteristic signs and symptoms or abnormal pulmonary function tests. Additional testing such as CT scan and bronchoscopy can then be performed to confirm the diagnosis and evaluate the severity of the condition. TBM is considered mild if the trachea narrows to 50% of its initial size while the affected person is breathing out, moderate if it narrows to 25%, and severe if the walls of the trachea touch.
(Source: GARD)
Topic: Tracheobronchomalacia
Question: What are the treatments for Tracheobronchomalacia ?
Answer: How might tracheobronchomalacia be treated? Treatment is only medically necessary in people who have signs and symptoms of tracheobronchomalacia (TBM). Management of symptomatic TBM first involves identifying underlying conditions contributing to symptoms, such as chronic inflammation, compression, or injury. Initial treatment will target these underlying medical concerns. If symptoms persist, people with TBM may undergo pulmonary function tests or other assessments to help guide therapy choice and allow monitoring of the response to treatment. Treatment options may include: Silicone and/or long-term stenting Surgical correction Continuous positive airway pressure (CPAP) Tracheostomy (often used as a last resort as it can sometimes worsen TBM) We strongly recommend that you discuss your treatment options with a healthcare provider.
(Source: GARD)
Topic: Pulmonic stenosis
Question: What are the symptoms of Pulmonic stenosis ?
Answer: What are the signs and symptoms of Pulmonic stenosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Pulmonic stenosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the pulmonary artery 90% Atria septal defect 50% Pulmonic stenosis - 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: Acquired pure red cell aplasia
Question: What is (are) Acquired pure red cell aplasia ?
Answer: Acquired pure red cell aplasia (PRCA) is a bone marrow disorder characterized by a reduction of red blood cells (erythrocytes) produced by the bone marrow. Signs and symptoms may include fatigue, lethargy, and/or abnormal paleness of the skin (pallor) due to the anemia the caused by the disorder. In most cases, the cause of acquired PRCA is unknown (idiopathic). In other cases it may occur secondary to autoimmune disorders, tumors of the thymus gland (thymomas), hematologic cancers, solid tumors, viral infections, or certain drugs. Treatment depends on the cause of the condition (if known) but often includes transfusions for individuals who are severely anemic and have cardiorespiratory failure.
(Source: GARD)
Topic: Acquired pure red cell aplasia
Question: What are the treatments for Acquired pure red cell aplasia ?
Answer: How might acquired pure red cell aplasia be treated? The main goals of treatment for pure red cell aplasia (PRCA) are to restore the production of red blood cells, maintain adequate hemoglobin levels, and treat underlying disorders that may be causing the condition. The initial treatment plan typically includes blood transfusions for individuals who are severely anemic and have cardiorespiratory failure. PRCA due to medication or infections is usually reversible within a few months. Therefore, medications that may be causing the condition should be discontinued, and infections that may cause the condition should be treated. Underlying conditions that may cause PRCA such as a thymoma, hematological cancers, solid tumors, and systemic lupus erythematosus (SLE) should be treated as necessary as well. When the condition is idiopathic (of unknown cause) or due to an autoimmune disorder, PRCA is typically initially treated with corticosteroids. It has been reported that individuals who seem to be resistant to treatment may respond to a single course of intravenous immunoglobulin (IVIG,) while others have responded to a single dose. In the United States, financial issues may make it difficult to obtain this treatment because IVIG is expensive and is not approved by the Food and Drug Administration to treat PRCA. Additional and more detailed information about the management of acquired PRCA may be found on eMedicine's web site and can be viewed by clicking here.
(Source: GARD)
Topic: Orofaciodigital syndrome 1
Question: What is (are) Orofaciodigital syndrome 1 ?
Answer: Orofaciodigital syndrome 1 (OFD1), also called orofaciodigital syndrome type 1, is a condition that affects the development of the oral cavity (the mouth and teeth), facial features, and digits (fingers and toes). This condition also causes polycystic kidney disease. Orofaciodigital syndrome 1 is caused by a change (mutation) in a gene called OFD1 which appears to play an important role in the early development of many parts of the body including the brain, face, limbs, and kidneys. The syndrome is inherited in an X-linked dominant pattern. The diagnosis of OFD1 is sometimes made at birth, but it may be suspected only after polycystic kidney disease is found in later childhood or adulthood. Treatment for OFD1 typically focuses on the symptoms an individual has and may include surgery for cleft lip or palate , other oral abnormalities, or syndactyly (webbing of the fingers or toes). Researchers have identified at least 13 potential forms of orofaciodigital syndromes, which are classified by their patterns of signs and symptoms. OFD1 is the most common form of orofaciodigital syndrome and differs from the other types mainly by its association with polycystic kidney disease.
(Source: GARD)
Topic: Orofaciodigital syndrome 1
Question: How to diagnose Orofaciodigital syndrome 1 ?
Answer: Is genetic testing available for orofaciodigital syndrome 1 (OFD1)? Genetic testing for orofaciodigital syndrome 1 is clinically available. OFD1  is the only gene currently known to be associated with this condition. Testing is often used to confirm or establish the diagnosis in an individual when OFD1 is suspected.  A change (mutation) in the OFD1 gene is detected in up to 85% of individuals who have OFD1.  You can find laboratories offering clinical genetic testing for OFD1 on a website called GeneTests. To see a listing of clinical testing laboratories click here. GeneTests does not currently list laboratories doing research testing for OFD1.
(Source: GARD)