bowang0911/MedQuAD huggingface dataset:
How might lymphatic filariasis be treated? The main treatment for this disorder is the use of major anti-parasiticide drugs; examples of these include ivermectin, albendazole, and diethylcarbamazine (DEC). These drugs work to get rid of the larval worm, to inhibit reproduction of the adult worm, or to kill the adult worm. For individuals who are actively infected with the filarial parasite, DEC is typically the drug of choice in the United States. The drug kills the microfilaria and some of the adult worms. DEC has been used world-wide for more than 50 years. Because this infection is rare in the U.S., the drug is no longer approved by the Food and Drug Administration (FDA) and cannot be sold in the United.States. Physicians can typically obtain the medication from the CDC after confirmed positive lab results. DEC is generally well tolerated. Side effects are in general limited and depend on the number of microfilariae in the blood. The most common side effects are dizziness, nausea, fever, headache, or pain in muscles or joints. Another treatment option, ivermectin, kills only the microfilariae. For individuals with clinical symptoms of the condition, treatment depends on the signs and symptoms the affected individual has. Lymphedema and elephantiasis are not typically indications for DEC treatment because most people with lymphedema are not actively infected with the filarial parasite. To prevent the lymphedema from getting worse, individuals should ask their physician for a referral to a lymphedema therapist so they can be informed about some basic principles of care such as hygiene, exercise and treatment of wounds. Men with hydrocele (abnormal accumulation of fluid in the scrotum) may have evidence of active infection, but typically do not improve clinically following treatment with DEC. The treatment for hydrocele is surgery. Surgery may also be performed to remove the remains of adult worms and calcifications developing around them. Treatment of elephantiasis of the legs usually consists of elevation and support from elastic stockings. In the tropical areas of the world, mosquito control is an important part of prevention of filariasis. Filariasis is usually a self-limited disease unless reinfection occurs. Therefore some cases, especially those brought into temperate regions of the world (i.e., North America), may be left untreated because there is no danger of spreading the disease.
What are the signs and symptoms of Feingold syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Feingold 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) Blepharophimosis 90% Brachydactyly syndrome 90% Clinodactyly of the 5th finger 90% Microcephaly 90% 4-5 toe syndactyly 86% 2-3 toe syndactyly 56% Anteverted nares 50% Cognitive impairment 50% Depressed nasal bridge 50% External ear malformation 50% Hallux valgus 50% Short stature 50% Toe syndactyly 50% Abnormal form of the vertebral bodies 7.5% Abnormality of the spleen 7.5% Annular pancreas 7.5% Duodenal stenosis 7.5% Oral cleft 7.5% Patent ductus arteriosus 7.5% Sensorineural hearing impairment 7.5% Tracheoesophageal fistula 7.5% Accessory spleen - Aplasia/Hypoplasia of the middle phalanx of the 2nd finger - Aplasia/Hypoplasia of the middle phalanx of the 5th finger - Asplenia - Autosomal dominant inheritance - Decreased fetal movement - Depressed nasal tip - Duodenal atresia - Epicanthus - Esophageal atresia - Facial asymmetry - Hearing impairment - High palate - Intellectual disability - Low-set ears - Polyhydramnios - Polysplenia - Posteriorly rotated ears - Prominent occiput - Short palpebral fissure - Short toe - Small anterior fontanelle - Specific learning disability - Thick vermilion border - Triangular face - Upslanted palpebral fissure - Vocal cord paralysis - Wide nasal bridge - 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.
What are the signs and symptoms of Cerebral sarcoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Cerebral sarcoma. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Fibrosarcoma - 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.
What are the signs and symptoms of Antecubital pterygium? The Human Phenotype Ontology provides the following list of signs and symptoms for Antecubital pterygium. 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 fingernails 90% Abnormality of the toenails 90% Abnormality of the ulna 90% Amniotic constriction ring 90% Aplasia/Hypoplasia of the radius 90% Limitation of joint mobility 90% Abnormality of pelvic girdle bone morphology 50% Elbow dislocation 50% Camptodactyly of finger 7.5% Displacement of the external urethral meatus 7.5% Glaucoma 7.5% Hand polydactyly 7.5% Nephropathy 7.5% Patellar aplasia 7.5% Urogenital fistula 7.5% Antecubital pterygium - Autosomal dominant inheritance - Limited elbow extension - Maldevelopment of radioulnar joint - Posterior subluxation of radial head - 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.
Enthesitis-related juvenile idiopathic arthritis is a subtype of juvenile idiopathic arthritis that is characterized by both arthritis and inflammation of an enthesitis site (the point at which a ligament, tendon, or joint capsule attaches to the bone). Signs and symptoms generally develop in late childhood or early adolescence and include pain, tenderness, and swelling in joints and at the enthesis. The knee and the back of the ankle (at the Achilles tendon) are the most commonly affected parts of the body. The underlying cause of enthesitis-related juvenile idiopathic arthritis is currently unknown (idiopathic). It is very rare for more than one member of a family to have juvenile arthritis; however, research suggests that having a family member with juvenile arthritis or any autoimmune disease may increase the risk of having juvenile arthritis, in general. Treatment usually involves different types of medications to help manage symptoms and/or physical therapy.
What are the signs and symptoms of Enthesitis-related juvenile idiopathic arthritis? The Human Phenotype Ontology provides the following list of signs and symptoms for Enthesitis-related juvenile idiopathic arthritis. 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) Arthritis 90% Inflammatory abnormality of the eye 90% Joint swelling 90% Abnormality of the teeth 50% Cartilage destruction 50% Enthesitis 50% Abnormal tendon morphology 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.
Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (NCAH) is a milder and later onset form of a genetic condition known as congenital adrenal hyperplasia. Some people affected by the condition have no associated signs and symptoms while others experience symptoms of androgen (male hormone) excess. Women with NCAH are generally born with normal female genitalia. Later in life, signs and symptoms of the condition can vary but may include hirsutism, frontal baldness, delayed menarche (first period), menstrual irregularities, and infertility. Little has been published about males with NCAH. They may have early beard growth and relatively small testes. Typically, they have normal sperm counts. NCAH is caused by changes (mutations) in the CYP21A2 gene and is inherited in an autosomal recessive manner. Treatment is only necessary in people who are symptomatic and may include a glucocorticoid called dexamethasone.
What are the signs and symptoms of Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency? The signs and symptoms of non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (NCAH) may develop any time after birth. Affected people generally experience symptoms of androgen (male hormone) excess such as acne, premature development of pubic hair, accelerated growth, advanced bone age, and reduced adult height. Women with NCAH are generally born with normal female genitalia. Later in life, signs and symptoms of the condition can vary but may include hirsutism, frontal baldness, delayed menarche (first period), menstrual irregularities, and infertility. Little has been published about males with NCAH. They may have early beard growth and relatively small testes. Typically, they have normal sperm counts. Some men and women affected by NCAH have no signs or symptoms of the condition. The Human Phenotype Ontology provides the following list of signs and symptoms for Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency. 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 thorax - Adrenal hyperplasia - Adrenogenital syndrome - Autosomal recessive inheritance - Fever - Growth abnormality - Gynecomastia - Hypertension - Hypoglycemia - Hypospadias - Renal salt wasting - 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.
What causes non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency? Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (NCAH) is caused by changes (mutations) in the CYP21A2 gene. This gene provides instructions for making an enzyme called 21-hydroxylase, which is found in the adrenal glands. The adrenal glands are cone-shaped organs that sit on top of the kidneys and are responsible for releasing various types of hormones that the body needs to function. Mutations in CYP21A2 lead to deficient levels of 21-hydroxylase which cause low levels of hormones such as cortisol and/or aldosterone and an overproduction of androgens (male hormones such as testosterone). Cortisol is a hormone that affects energy levels, blood sugar levels, blood pressure, and the body's response to stress, illness, and injury. Aldosterone helps the body maintain the proper level of sodium (salt) and water and helps maintain blood pressure. Irregular levels of these hormones lead to the signs and symptoms of NCAH. The amount of functional 21-hydroxylase enzyme determines the severity of the disorder. People with NCAH have CYP21A2 mutations that result in the production of reduced amounts of the enzyme, but more enzyme than the classic form of congenital adrenal hyperplasia.
Is non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency inherited? Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (NCAH) is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier.
How is non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency diagnosed? A diagnosis of non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (NCAH) is often suspected based on the presence of characteristic signs and symptoms. Additional testing can then be ordered to confirm the diagnosis. This may include a blood test to measure the concentration of 17-hydroxyprogesterone (17-OHP) and/or an adrenocorticotropic hormone (ACTH) stimulation test. An ACTH stimulation test involves measuring the concentration of 17-OHP in the blood before ACTH is administered and 60 min after ACTH is given.
How might non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency be treated? In some cases, people affected by non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (NCAH) may not require any treatment. Many are asymptomatic throughout their lives, although symptoms may develop during puberty, after puberty, or post partum. If symptoms are present, a glucocorticoid called dexamethasone is often recommended. Dexamethasone can treat irregular menstruation, acne, and excess body hair (hirsutism).
Central serous chorioretinopathy is a disease that causes fluid to build up under the retina, the back part of the inner eye that sends sight information to the brain. The fluid leaks from the choroid (the blood vessel layer under the retina). The cause of this condition is unknown but stress can be a risk factor. Signs and symptoms include dim and blurred blind spot in the center of vision, distortion of straight lines and seeing objects as smaller or farther away. Many cases of central serous chorioretinopathy improve without treatment after 1-2 months. Laser treatment may be an option for other individuals.
What are the signs and symptoms of Hand and foot deformity with flat facies? The Human Phenotype Ontology provides the following list of signs and symptoms for Hand and foot deformity with flat facies. 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) Brachydactyly syndrome 90% Camptodactyly of finger 90% Depressed nasal bridge 90% High forehead 90% Long philtrum 90% Malar flattening 90% Abnormality of the palate 50% Coarse hair 50% Low posterior hairline 50% Muscular hypotonia 50% Abnormality of the foot - Autosomal dominant inheritance - Contractures of the interphalangeal joint of the thumb - Flat face - Intellectual disability - Metacarpophalangeal joint contracture - Neonatal hypotonia - Short stature - 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.
Budd-Chiari syndrome is a rare disorder characterized by narrowing and obstruction of the veins of the liver. This narrowing or obstruction slows or prevents blood from flowing out of the liver and back to the heart which can lead to liver damage. While some people experience no symptoms, many experience fatigue, abdominal pain, nausea, and jaundice. Other associated findings include an accumulation of fluid in the abdomen (ascites), an enlarged spleen and/or liver, and severe bleeding in the esophagus. The severity of the disorder varies from case to case, depending on the site and number of affected veins. Drugs may be used to dissolve or decrease the size of the obstruction (if it is a clot). In some cases surgery is performed. In most cases, the cause of Budd-Chiari syndrome is unknown.
What are the signs and symptoms of Budd-Chiari syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Budd-Chiari 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) Ascites 90% Portal hypertension 90% Splenomegaly 90% Abdominal pain 50% Abnormality of temperature regulation 50% Cirrhosis 50% Elevated hepatic transaminases 50% Esophageal varix 50% Hepatomegaly 50% Acute hepatic failure 7.5% Biliary tract abnormality 7.5% Gastrointestinal hemorrhage 7.5% Gastrointestinal infarctions 7.5% Intestinal obstruction 7.5% Malabsorption 7.5% Peritonitis 7.5% Weight loss 7.5% Budd-Chiari syndrome - Hepatocellular carcinoma - 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.
How might Budd-Chiari syndrome be treated? The treatment of Budd-Chiari syndrome varies, depending on the cause of the blockage. Medical treatments may include: Blood-thinning (anticoagulation) medications Clot-busting drugs (thrombolytic treatment) Treatment for the liver disease, including ascites Surgical treatments may also be considered and include: Angioplasty and stent placement Transjugular intrahepatic portosystemic shunt (TIPS) Venous shunt surgery While medical therapy can be instituted for short-term, symptomatic benefit, medical therapy alone has been associated with a high 2-year mortality rate (80-85%). You can view more detailed information regarding the medical and surgical options for treatment of Budd-Chiari syndrome by clicking here.