umarjan11/Medical-qna huggingface dataset:
Question: How to diagnose Varicose Veins ?

Answer: Doctors often diagnose varicose veins based on a physical exam alone. Sometimes tests or procedures are used to find out the extent of the problem or to rule out other conditions.
                
Specialists Involved
                
If you have varicose veins, you may see a vascular medicine specialist or vascular surgeon. These doctors specialize in blood vessel conditions. You also may see a dermatologist. This type of doctor specializes in skin conditions.
                
Physical Exam
                
To check for varicose veins in your legs, your doctor will look at your legs while you're standing or sitting with your legs dangling. He or she may ask you about your signs and symptoms, including any pain you're having.
                
Diagnostic Tests and Procedures
                
Duplex Ultrasound
                
Your doctor may recommend duplex ultrasound to check blood flow in your veins and to look for blood clots. Duplex ultrasound combines traditional with Doppler ultrasound. Traditional ultrasound uses sound waves to create apicture of the structures in your body, in this case the blood vessels and anything that may be blocking the flow of blood. Doppler ultrasound uses sound waves to create pictures of the flow or movement of the blood through theveins. The two types of ultrasound together paint a picture that helps your doctor diagnose your condition.
                
During this test, a handheld device will be placed on your body and passed back and forth over the affected area. The device sends and receives sound waves. A computer will convert the sound waves into a picture of the blood flow in your arteries and veins.
                
Angiogram
                
Although it is not very common, your doctor may recommend an angiogram to get a more detailed look at the blood flow through your veins.
                
For this procedure, dye is injected into your veins. The dye outlines your veins on x-ray images.
                
An angiogram can help your doctor confirm whether you have varicose veins or another condition.
Question: What is (are) dihydropyrimidinase deficiency ?

Answer: Dihydropyrimidinase deficiency is a disorder that can cause neurological and gastrointestinal problems in some affected individuals. Other people with dihydropyrimidinase deficiency have no signs or symptoms related to the disorder, and in these individuals the condition can be diagnosed only by laboratory testing.  The neurological abnormalities that occur most often in people with dihydropyrimidinase deficiency are intellectual disability, seizures, and weak muscle tone (hypotonia). An abnormally small head size (microcephaly) and autistic behaviors that affect communication and social interaction also occur in some individuals with this condition.  Gastrointestinal problems that occur in dihydropyrimidinase deficiency include backflow of acidic stomach contents into the esophagus (gastroesophageal reflux) and recurrent episodes of vomiting (cyclic vomiting). Affected individuals can also have deterioration (atrophy) of the small, finger-like projections (villi) that line the small intestine and provide a large surface area with which to absorb nutrients. This condition, called villous atrophy, can lead to difficulty absorbing nutrients from foods (malabsorption), resulting in a failure to grow and gain weight at the expected rate (failure to thrive).  People with dihydropyrimidinase deficiency, including those who otherwise exhibit no symptoms, may be vulnerable to severe, potentially life-threatening toxic reactions to certain drugs called fluoropyrimidines that are used to treat cancer. Common examples of these drugs are 5-fluorouracil and capecitabine. These drugs may not be broken down efficiently and can build up to toxic levels in the body (fluoropyrimidine toxicity), leading to drug reactions including gastrointestinal problems, blood abnormalities, and other signs and symptoms.
Question: What is (are) Crigler-Najjar syndrome ?

Answer: Crigler-Najjar syndrome is a severe condition characterized by high levels of a toxic substance called bilirubin in the blood (hyperbilirubinemia). Bilirubin is produced when red blood cells are broken down. This substance is removed from the body only after it undergoes a chemical reaction in the liver, which converts the toxic form of bilirubin (called unconjugated bilirubin) to a nontoxic form called conjugated bilirubin. People with Crigler-Najjar syndrome have a buildup of unconjugated bilirubin in their blood (unconjugated hyperbilirubinemia).  Bilirubin has an orange-yellow tint, and hyperbilirubinemia causes yellowing of the skin and whites of the eyes (jaundice). In Crigler-Najjar syndrome, jaundice is apparent at birth or in infancy. Severe unconjugated hyperbilirubinemia can lead to a condition called kernicterus, which is a form of brain damage caused by the accumulation of unconjugated bilirubin in the brain and nerve tissues. Babies with kernicterus are often extremely tired (lethargic) and may have weak muscle tone (hypotonia). These babies may experience episodes of increased muscle tone (hypertonia) and arching of their backs. Kernicterus can lead to other neurological problems, including involuntary writhing movements of the body (choreoathetosis), hearing problems, or intellectual disability.  Crigler-Najjar syndrome is divided into two types. Type 1 (CN1) is very severe, and affected individuals can die in childhood due to kernicterus, although with proper treatment, they may survive longer. Type 2 (CN2) is less severe. People with CN2 are less likely to develop kernicterus, and most affected individuals survive into adulthood.
Question: What are the symptoms of Polycystic liver disease ?

Answer: What are the signs and symptoms of Polycystic liver disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Polycystic liver disease. 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) Hepatomegaly 90% Polycystic kidney dysplasia 50% Abdominal pain 7.5% Abnormality of the pancreas 7.5% Aneurysm 7.5% Elevated alkaline phosphatase 7.5% Feeding difficulties in infancy 7.5% Gastrointestinal hemorrhage 7.5% Respiratory insufficiency 7.5% Abdominal distention - Abnormality of the cardiovascular system - Abnormality of the nervous system - Ascites - Autosomal dominant inheritance - Back pain - Increased total bilirubin - Polycystic liver disease - Renal cyst - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question: What are the symptoms of Pyknoachondrogenesis ?

Answer: What are the signs and symptoms of Pyknoachondrogenesis? The Human Phenotype Ontology provides the following list of signs and symptoms for Pyknoachondrogenesis. 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 vertebral ossification 90% Abnormality of pelvic girdle bone morphology 90% Abnormality of the mouth 90% Abnormality of the sacrum 90% Depressed nasal ridge 90% Enlarged thorax 90% Increased bone mineral density 90% Low-set, posteriorly rotated ears 90% Macrocephaly 90% Micromelia 90% Palpebral edema 90% Premature birth 90% Short stature 90% Short thorax 90% Thickened nuchal skin fold 90% Autosomal recessive inheritance - Stillbirth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question: What are the symptoms of Porencephaly ?

Answer: What are the signs and symptoms of Porencephaly? The Human Phenotype Ontology provides the following list of signs and symptoms for Porencephaly. 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 movement 90% Hypertonia 90% Ventriculomegaly 90% Cognitive impairment 50% Hemiplegia/hemiparesis 50% Autosomal dominant inheritance - Babinski sign - Cerebellar atrophy - Elevated serum creatine phosphokinase - Exotropia - Hemiplegia - Hemolytic anemia - Hydrocephalus - Incomplete penetrance - Intellectual disability - Intracranial hemorrhage - Ischemic stroke - Leukoencephalopathy - Limb dystonia - Porencephaly - Schizencephaly - Seizures - Spasticity - Tetraparesis - Variable expressivity - Visual field 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.
Question: What is (are) congenital diaphragmatic hernia ?

Answer: Congenital diaphragmatic hernia is a defect in the diaphragm. The diaphragm, which is composed of muscle and other fibrous tissue, separates the organs in the abdomen from those in the chest. Abnormal development of the diaphragm before birth leads to defects ranging from a thinned area in the diaphragm to its complete absence. An absent or partially formed diaphragm results in an abnormal opening (hernia) that allows the stomach and intestines to move into the chest cavity and crowd the heart and lungs. This crowding can lead to underdevelopment of the lungs (pulmonary hypoplasia), potentially resulting in life-threatening breathing difficulties that are apparent from birth.  In 5 to 10 percent of affected individuals, signs and symptoms of congenital diaphragmatic hernia appear later in life and may include breathing problems or abdominal pain from protrusion of the intestine into the chest cavity. In about 1 percent of cases, congenital diaphragmatic hernia has no symptoms; it may be detected incidentally when medical imaging is done for other reasons.  Congenital diaphragmatic hernias are often classified by their position. A Bochdalek hernia is a defect in the side or back of the diaphragm. Between 80 and 90 percent of congenital diaphragmatic hernias are of this type. A Morgnani hernia is a defect involving the front part of the diaphragm. This type of congenital diaphragmatic hernia, which accounts for approximately 2 percent of cases, is less likely to cause severe symptoms at birth. Other types of congenital diaphragmatic hernia, such as those affecting the central region of the diaphragm, or those in which the diaphragm muscle is absent with only a thin membrane in its place, are rare.
Question: What is (are) idiopathic pulmonary fibrosis ?

Answer: Idiopathic pulmonary fibrosis is a chronic, progressive lung disease. This condition causes scar tissue (fibrosis) to build up in the lungs, which makes the lungs unable to transport oxygen into the bloodstream effectively. The disease usually affects people between the ages of 50 and 70.  The most common signs and symptoms of idiopathic pulmonary fibrosis are shortness of breath and a persistent dry, hacking cough. Many affected individuals also experience a loss of appetite and gradual weight loss. Some people with idiopathic pulmonary fibrosis develop widened and rounded tips of the fingers and toes (clubbing) resulting from a shortage of oxygen. These features are relatively nonspecific; not everyone with these health problems has idiopathic pulmonary fibrosis. Other respiratory diseases, some of which are less serious, can cause similar signs and symptoms.  In people with idiopathic pulmonary fibrosis, scarring of the lungs increases over time until the lungs can no longer provide enough oxygen to the body's organs and tissues. Some people with idiopathic pulmonary fibrosis develop other serious lung conditions, including lung cancer, blood clots in the lungs (pulmonary emboli), pneumonia, or high blood pressure in the blood vessels that supply the lungs (pulmonary hypertension). Most affected individuals survive 3 to 5 years after their diagnosis. However, the course of the disease is highly variable; some affected people become seriously ill within a few months, while others may live with the disease for a decade or longer.  In most cases, idiopathic pulmonary fibrosis occurs in only one person in a family. These cases are described as sporadic. However, a small percentage of people with this disease have at least one other affected family member. When idiopathic pulmonary fibrosis occurs in multiple members of the same family, it is known as familial pulmonary fibrosis.
Question: What are the genetic changes related to Bloom syndrome ?

Answer: Mutations in the BLM gene cause Bloom syndrome. The BLM gene provides instructions for making a member of a protein family called RecQ helicases. Helicases are enzymes that attach (bind) to DNA and unwind the two spiral strands (double helix) of the DNA molecule. This unwinding is necessary for several processes in the cell nucleus, including copying (replicating) DNA in preparation for cell division and repairing damaged DNA. Because RecQ helicases help maintain the structure and integrity of DNA, they are known as the "caretakers of the genome."  When a cell prepares to divide to form two cells, the DNA that makes up the chromosomes is copied so that each new cell will have two copies of each chromosome, one from each parent. The copied DNA from each chromosome is arranged into two identical structures, called sister chromatids, which are attached to one another during the early stages of cell division. Sister chromatids occasionally exchange small sections of DNA during this time, a process known as sister chromatid exchange. Researchers suggest that these exchanges may be a response to DNA damage during the copying process. The BLM protein helps to prevent excess sister chromatid exchanges and is also involved in other processes that help maintain the stability of the DNA during the copying process.  BLM gene mutations result in the absence of functional BLM protein. As a result, the frequency of sister chromatid exchange is about 10 times higher than average. Exchange of DNA between chromosomes derived from the individual's mother and father are also increased in people with BLM gene mutations. In addition, chromosome breakage occurs more frequently in affected individuals. All of these changes are associated with gaps and breaks in the genetic material that impair normal cell activities and cause the health problems associated with this condition. Without the BLM protein, the cell is less able to repair DNA damage caused by ultraviolet light, which results in increased sun sensitivity. Genetic changes that allow cells to divide in an uncontrolled way lead to the cancers that occur in people with Bloom syndrome.
Question: What are the symptoms of Hirschsprung's disease ?

Answer: What are the signs and symptoms of Hirschsprung's disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Hirschsprung's disease. 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) Abdominal pain 90% Aganglionic megacolon 90% Constipation 90% Intestinal obstruction 90% Nausea and vomiting 90% Weight loss 50% Adducted thumb 7.5% Cognitive impairment 7.5% Diarrhea 7.5% Intestinal polyposis 7.5% Neoplasm of the thyroid gland 7.5% Sensorineural hearing impairment 7.5% Sepsis 7.5% Short stature 7.5% Abdominal distention - Abnormality of the enteric ganglia - Autosomal dominant inheritance - Enterocolitis - Vomiting - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question: What are the symptoms of 11-beta-hydroxylase deficiency ?

Answer: What are the signs and symptoms of 11-beta-hydroxylase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for 11-beta-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 urinary system - Accelerated skeletal maturation - Adrenogenital syndrome - Ambiguous genitalia, female - Autosomal recessive inheritance - Clitoromegaly - Congenital adrenal hyperplasia - Decreased circulating aldosterone level - Decreased circulating renin level - Decreased testicular size - Hyperpigmentation of the skin - Hypertension - Hypokalemia - Hypoplasia of the uterus - Hypoplasia of the vagina - Long penis - Neonatal onset - Precocious puberty in males - 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.
Question: What are the symptoms of Isolated growth hormone deficiency type 3 ?

Answer: What are the signs and symptoms of Isolated growth hormone deficiency type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Isolated growth hormone deficiency type 3. 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) Chronic otitis media - Conjunctivitis - Delayed skeletal maturation - Diarrhea - Encephalitis - Enteroviral dermatomyositis syndrome - Enteroviral hepatitis - Epididymitis - Growth hormone deficiency - Hearing impairment - Meningitis - Panhypogammaglobulinemia - Pneumonia - Prostatitis - Pyoderma - Recurrent bacterial infections - Recurrent enteroviral infections - Recurrent urinary tract infections - Septic arthritis - Short stature - Sinusitis - X-linked recessive 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.