sarnsrun/medquad huggingface dataset:
Topic: Pili annulati
Question: What are the symptoms of Pili annulati ?
Answer: What are the signs and symptoms of Pili annulati? The Human Phenotype Ontology provides the following list of signs and symptoms for Pili annulati. 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) Fine hair 90% Abnormality of the hair - 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: Necrotizing fasciitis
Question: What is (are) Necrotizing fasciitis ?
Answer: Necrotizing fasciitis is a serious infection of the skin, subcutaneous tissue (tissue just beneath the skin) and fascia. The infection can arise suddenly and spread quickly. Necrotizing fasciitis can be caused by several different types of bacteria. Early signs include flu-like symptoms and redness and pain around the infection site. If the infection is not treated promptly, it can lead to multiple organ failure and death. As a result, prompt diagnosis and treatment is essential. Treatment typically includes intravenous antibiotics and surgery to remove infected and dead tissue.
Source: GARD
Topic: Necrotizing fasciitis
Question: What are the symptoms of Necrotizing fasciitis ?
Answer: What are the signs and symptoms of necrotizing fasciitis? Symptoms often begin within hours of an injury. Intense pain and tenderness over the affected area are often considered the hallmark symptoms of necrotizing fasciitis (NF). The pain is often described as severe and may raise suspicion of a torn muscle. Some early symptoms may be mistaken for the flu and can include fever, sore throat, stomach ache, nausea, diarrhea, chills, and general body aches. The patient may notice redness around the area which spreads quickly; the affected area can eventually become swollen, shiny, discolored, and hot to the touch. In addition, there may be ulcers or blisters. If the infection continues to spread, the patient may experience the following: dehydration, high fever, fast heart rate, and low blood pressure. Pain may actually improve as tissues and the nerves are destroyed. As the infection spreads, vital organs may be affected and the patient may become confused or delirious. If not successfully treated, NF can lead to shock and eventual death.
Source: GARD
Topic: Necrotizing fasciitis
Question: What causes Necrotizing fasciitis ?
Answer: What causes necrotizing fasciitis? Bacteria that can cause necrotizing fasciitis (NF) include the following: Klebsiella, Clostridium, and Escherichia coli; group A Streptococcus is the most common cause. Anyone can develop NF. Approximately 50% of necrotizing fasciitis cases caused by streptococcal bacteria occur in young and otherwise healthy individuals. Although necrotizing fasciitis most frequently develops after trauma that causes a break in the skin, it can also develop after minor trauma that occurs without a break in the skin. NF can occur as a complication of a surgical procedure; it can also occur at the site of a relatively minor injury such as an insect bite or an injection. In addition, underlying illnesses which weaken the immune system may increase the risk that a person will develop NF. Studies have even suggested a possible relationship between the use of nonsteroidal anti-inflammatory medications (NSAIDs) during varicella infections and the development of necrotizing fasciitis.
Source: GARD
Topic: Necrotizing fasciitis
Question: What are the treatments for Necrotizing fasciitis ?
Answer: How might necrotizing fasciitis be treated? Accurate and prompt diagnosis, treatment with intravenous (IV) antibiotics, and surgery to remove dead tissue are all important for treating necrotizing fasciitis. Since the blood supply to the infected tissue is impaired, antibiotics cannot penetrate into the infected tissue. As a result, surgery to remove the dead, damaged, or infected tissue is the cornerstone of treatment for necrotizing fasciitis. In addition, early surgical treatment may minimize tissue loss, eliminating the need for amputation of the infected extremity. The choice of antibiotics will likely depend on the particular bacteria involved. Supplemental oxygen, fluids, and medicines may be needed to raise the blood pressure. Hyperbaric oxygen therapy and intravenous immunoglobulin may also be considered, but their use in patients with NF is considered controversial by some.
Source: GARD
Topic: Anti-plasmin deficiency, congenital
Question: What are the symptoms of Anti-plasmin deficiency, congenital ?
Answer: What are the signs and symptoms of Anti-plasmin deficiency, congenital? The Human Phenotype Ontology provides the following list of signs and symptoms for Anti-plasmin deficiency, congenital. 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 recessive inheritance - Bruising susceptibility - Hemothorax - Joint hemorrhage - Persistent bleeding after trauma - 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: Celiac artery compression syndrome
Question: What is (are) Celiac artery compression syndrome ?
Answer: Celiac artery compression syndrome is a rare disorder characterized by chronic, recurrent abdominal pain related to compression of the celiac artery (which supplies blood to the upper abdominal organs) by the median arcuate ligament (a muscular fibrous band of the diaphragm). It usually presents with symptoms of abdominal pain, weight loss, and an abdominal bruit (abnormal sound of a blood vessel when blocked or narrowed). The cause is not fully understood; however, it is suspected that there could be a combination of vascular (blood supply) and neurogenic (neurological) components involved. Diagnosis is usually confirmed with imaging such as CT angiography, MRI, ultrasound, and arteriography.Surgery is currently the only treatment option and involves releasing the ligament.
Source: GARD
Topic: Celiac artery compression syndrome
Question: What are the symptoms of Celiac artery compression syndrome ?
Answer: What are the signs and symptoms of celiac artery compression syndrome?  Classically, individuals with celiac artery compression syndrome present with a triad of abdominal pain after eating, weight loss (usually >20 pounds), and abdominal bruit (abnormal sound of a blood vessel when blocked or narrowed).  One review found that abdominal pain is the most common symptom, found to be present in approximately 80% of individuals, while weight loss was found in approximately 48% and abdominal bruit was appreciated in approximately 35%. Other symptoms include: nausea, diarrhea, vomiting, and delayed gastric emptying.
Source: GARD
Topic: Celiac artery compression syndrome
Question: What causes Celiac artery compression syndrome ?
Answer: What causes celiac artery compression syndrome? The cause of celiac artery syndrome is disputed. While it was initially thought to be caused by a restriction of blood supply secondary to compression of the celiac artery (supplies blood to the upper abdominal organs) by the median arcuate ligament (a muscular fibrous band of the diaphragm), other factors have been proposed. It has been suggested that nerve dysfunction might additionally be involved, which could explain some of the associated symptoms such as pain and delayed gastric emptying.
Source: GARD
Topic: Celiac artery compression syndrome
Question: How to diagnose Celiac artery compression syndrome ?
Answer: How is celiac artery compression syndrome diagnosed? A diagnosis of celiac artery compression syndrome might be suspected in middle aged (40-60) female patients with a triad of symptoms including abdominal pain after eating, weight loss, and abdominal bruit (abnormal sound of a blood vessel when blocked or narrowed). Abdominal imaging is used to confirm the diagnosis and rule out other similarly presenting disorders. Imaging methodologies might include: CT angiography, MRI, ultrasound, and arteriography.
Source: GARD
Topic: Celiac artery compression syndrome
Question: What are the treatments for Celiac artery compression syndrome ?
Answer: How might celiac artery compression syndrome be treated? Surgery is currently the only treatment option for celiac artery compression syndrome. Surgery typically involves decompression of the celiac artery by dividing the fibers of the median arcuate ligament and celiac plexus (network of nerves in the abdomen). Surgical decompression might additionally be combined with stent placement, angioplasty, or vascular reconstruction of the celiac artery.
Source: GARD
Topic: Mucopolysaccharidosis type IIIB
Question: What is (are) Mucopolysaccharidosis type IIIB ?
Answer: Mucopolysaccharidosis type IIIB (MPS IIIB) is an genetic disorder that makes the body unable to break down large sugar molecules called glycosaminoglycans (GAGs, formerly called mucopolysaccharides). Specifically, people with this condition are unable to break down a GAG called heparan sulfate. Affected individuals can have severe neurological symptoms, including progressive dementia, aggressive behavior, hyperactivity, seizures, deafness, loss of vision, and an inability to sleep for more than a few hours at a time. MPS IIIB is caused by alterations (mutations) in the NAGLU gene. This gene provides the instructions for producing an enzyme called N-alpha-acetylglucosaminidase, which is needed to completely break down heparan sulfate. MPS IIIB is inherited in an autosomal recessive manner. There is no specific treatment for this condition. Most people with MPS IIIB live into their teenage years, and some live longer.
Source: GARD
Topic: Mucopolysaccharidosis type IIIB
Question: What are the symptoms of Mucopolysaccharidosis type IIIB ?
Answer: What are the signs and symptoms of Mucopolysaccharidosis type IIIB? The Human Phenotype Ontology provides the following list of signs and symptoms for Mucopolysaccharidosis type IIIB. 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) Aggressive behavior - Asymmetric septal hypertrophy - Autosomal recessive inheritance - Cardiomegaly - Coarse facial features - Coarse hair - Dense calvaria - Diarrhea - Dysostosis multiplex - Hearing impairment - Heparan sulfate excretion in urine - Hepatomegaly - Hirsutism - Hyperactivity - Intellectual disability - Joint stiffness - Juvenile onset - Ovoid thoracolumbar vertebrae - Progressive neurologic deterioration - Recurrent upper respiratory tract infections - Seizures - Sleep disturbance - Splenomegaly - Synophrys - Thickened ribs - 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: Charcot-Marie-Tooth disease type 2J
Question: What are the symptoms of Charcot-Marie-Tooth disease type 2J ?
Answer: What are the signs and symptoms of Charcot-Marie-Tooth disease type 2J? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 2J. 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 eye - Abnormality of the respiratory system - Areflexia - Autosomal dominant inheritance - Axonal degeneration/regeneration - Distal muscle weakness - Distal sensory impairment - Dysphagia - Foot dorsiflexor weakness - Hyporeflexia - Peripheral demyelination - Pes cavus - Progressive sensorineural hearing impairment - Sensorineural hearing impairment - Steppage gait - 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: Epidermolysis bullosa, lethal acantholytic
Question: What are the symptoms of Epidermolysis bullosa, lethal acantholytic ?
Answer: What are the signs and symptoms of Epidermolysis bullosa, lethal acantholytic? The Human Phenotype Ontology provides the following list of signs and symptoms for Epidermolysis bullosa, lethal acantholytic. 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% Advanced eruption of teeth 90% Alopecia 90% Anonychia 90% Skin ulcer 90% Abnormality of the gastric mucosa 7.5% Hypertrophic cardiomyopathy 7.5% Acantholysis - Autosomal recessive inheritance - Mitten deformity - Natal tooth - Neonatal death - Phimosis - Sandal gap - Skin erosion - Tapered distal phalanges of finger - Widely spaced toes - 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: VLCAD deficiency
Question: What is (are) VLCAD deficiency ?
Answer: VLCAD deficiency is a condition in which the body is unable to properly breakdown certain fats (called very long-chain fatty acids) into energy, particularly during periods without food (fasting). Signs and symptoms can occur during infancy, childhood or adulthood depending on the form of the condition and may include low blood sugar (hypoglycemia), lack of energy, and muscle weakness. Children affected by the most severe forms of the condition are also at risk of serious complications such as liver abnormalities and life-threatening heart problems. VLCAD deficiency is caused by changes (mutations) in the ACADVL gene and is inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.
Source: GARD
Topic: VLCAD deficiency
Question: What are the symptoms of VLCAD deficiency ?
Answer: What are the signs and symptoms of VLCAD deficiency? There are three forms of VLCAD deficiency: a severe, early-onset form; a hepatic (liver) or hypoketotic hypoglycemic form; and a later-onset episodic myopathic form. Signs and symptoms of the severe, early-onset form occur in the first few months of life and include cardiomyopathy (heart disease), pericardial effusion (fluid around the heart), heart arrhythmias (abnormal heart beat), low muscle tone, enlarged liver, and intermittent hypoglycemia (low blood sugar). The heart problems can be life threatening, but are often improved with early treatment and diet modifications. People affected by the hepatic or hypoketotic hypoglycemic form typically develop symptoms during early childhood. These features may include hypoketotic hypoglycemia and enlarged liver (without cardiomyopathy). "Hypoketotic" refers to a low level of ketones, which are produced during the breakdown of fats and used for energy. Hypoglycemia refers to low blood sugar. Together, these signs are called "hypoketotic hypoglycemia." The episodes of hypoglycemia seen in the early-onset form and hepatic/hypoketotic hypoglycemia form can cause a child to feel weak, shaky and/or dizzy with clammy, cold skin. If not treated, it can lead to coma, and possibly death. Periods of hypoglycemia can also occur with other symptoms as part of a metabolic crisis. Signs and symptoms of the later-onset episodic myopathic form may include intermittent rhabdomyolysis (breakdown of muscle), muscle cramps, muscle pain, and exercise intolerance. It is the most common form of VLCAD deficiency.
Source: GARD
Topic: VLCAD deficiency
Question: What causes VLCAD deficiency ?
Answer: What causes VLCAD deficiency? VLCAD deficiency is caused by changes (mutations) in the ACADVL gene. This gene encodes an enzyme that is required for the proper break down (metabolism) of a certain group of fats called very long-chain fatty acids. Mutations in the ACADVL gene lead to reduced levels of this enzyme which prevents the proper metabolism of these fats. Because very long-chain fatty acids are an important source of energy, particularly for the heart and muscles, this may result in certain symptoms such as lethargy and hypoglycemia. Fats that are not properly broken down can also build-up and damage tissues such as the heart, liver, and muscles, which can cause the other features seen in people with VLCAD deficiency.
Source: GARD
Topic: VLCAD deficiency
Question: Is VLCAD deficiency inherited ?
Answer: Is VLCAD deficiency inherited? VLCAD deficiency 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.
Source: GARD
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