bowang0911/MedQuAD huggingface dataset:
What are the signs and symptoms of Hypoplastic left heart syndrome? Normally, oxygen-poor blood is pumped through the right side of the heart to the lungs, where it gains oxygen and returns to the left side of the heart. The oxygen-rich blood is then pumped from the left side of the heart to the rest of the body. At birth, all babies also have two connections, or shunts, between the two sides of the heart; however, within a few days of birth these connections close. In those with HLHS, the underdeveloped left side of the heart is unable to provide enough blood flow to the body. The normal shunts present at birth help to direct blood to the body; when these connections close the oxygen-rich blood supply decreases. At first, a newborn with HLHS may appear normal. Symptoms usually occur in the first few hours of life, although it may take up to a few days to develop symptoms. These symptoms may include: Bluish (cyanosis) or poor skin color Cold hands and feet (extremities) Lethargy Poor pulse Poor suckling and feeding Pounding heart Rapid breathing Shortness of breath In healthy newborns, bluish color in the hands and feet is a response to cold (this reaction is called peripheral cyanosis). However, a bluish color in the chest or abdomen, lips, and tongue is abnormal (called central cyanosis). It is a sign that there is not enough oxygen in the blood. Central cyanosis often increases with crying. The Human Phenotype Ontology provides the following list of signs and symptoms for Hypoplastic left heart 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) Hypoplastic left heart 90% Abnormality of the aorta 50% Abnormality of chromosome segregation 7.5% Abnormality of the mitral valve 7.5% Atria septal defect 7.5% Maternal diabetes 7.5% Patent ductus arteriosus 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.
How might hypoplastic left heart syndrome (HLHS) be treated? Once the diagnosis of HLHS is made, the baby will be admitted to the neonatal intensive care unit. A breathing machine (ventilator) may be needed to help the baby breathe. A medicine called prostaglandin E1 is used to keep blood circulating to the body by keeping the ductus arteriosus open. These measures do not solve the problem and ultimately, the baby will require surgery. The first surgery, called the Norwood operation, occurs within the baby's first few days of life. Stage I of the Norwood procedure consists of building a new aorta by: Using the pulmonary valve and artery Connecting the hypoplastic old aorta and coronary arteries to the new aorta Removing the wall between the atria (atrial septum) Making an artificial connection from either the right ventricle or a body-wide artery to the pulmonary artery to maintain blood flow to the lungs (called a shunt) Afterwards, the baby usually goes home. The child will need to take daily medicines and be closely followed by a pediatric cardiologist, who will determine when the second stage of surgery should be done. Stage II of the operation is called the Glenn shunt or hemi-Fontan procedure. This procedure connects the major vein carrying blue blood from the top half of the body (the superior vena cava) directly to blood vessels to the lungs (pulmonary arteries) to get oxygen. The surgery is usually done when the child is 4 to 6 months of age. During stages I and II, the child may still appear somewhat blue (cyanotic).Stage III, the final step, is called the Fontan procedure. The rest of the veins that carry blue blood from the body (the inferior vena cava) are connected directly to the blood vessels to the lungs. The right ventricle now serves only as the pumping chamber for the body (no longer the lungs and the body). This surgery is usually performed when the baby is 18 months - 3 years old. After this final step, the baby is no longer blue. Some patients may need more surgeries in their 20s or 30s if they develop hard to control arrhythmias or other complications of the Fontan procedure. In some hospitals, heart transplantation is considered a better choice than the three-step surgery process. However, there are few donated hearts available for small infants.
What are the signs and symptoms of Familial partial lipodystrophy associated with PPARG mutations? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial partial lipodystrophy associated with PPARG mutations. 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 lipid metabolism 90% Abnormality of the menstrual cycle 90% Diabetes mellitus 90% Hypertension 90% Insulin resistance 90% Acanthosis nigricans 50% Hepatic steatosis 50% Hyperuricemia 50% Cirrhosis 7.5% Coronary artery disease 7.5% Hypertrichosis 7.5% Polycystic ovaries 7.5% Toxemia of pregnancy 7.5% Abnormality of the face - Abnormality of the musculature - Abnormality of the neck - Autosomal dominant inheritance - Decreased subcutaneous fat - Hirsutism - Hyperglycemia - Hyperinsulinemia - Hypertriglyceridemia - Hypoalphalipoproteinemia - Insulin-resistant diabetes mellitus - Lipodystrophy - Loss of gluteal subcutaneous adipose tissue - Loss of subcutaneous adipose tissue in limbs - Maternal diabetes - Oligomenorrhea - Preeclampsia - Primary amenorrhea - Prominent superficial veins - 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 Brachydactyly type A4? The Human Phenotype Ontology provides the following list of signs and symptoms for Brachydactyly type A4. 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) Short toe 90% Short stature 50% Symphalangism affecting the phalanges of the hand 50% Aplasia of the middle phalanges of the toes - Autosomal dominant inheritance - Congenital talipes calcaneovalgus - Short middle phalanx of the 2nd finger - Short middle phalanx of the 5th finger - Type A brachydactyly - 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 Ameloonychohypohidrotic syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ameloonychohypohidrotic 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 dental color 90% Abnormality of dental enamel 90% Abnormality of the fingernails 90% Hyperkeratosis 90% Hypohidrosis 90% Hypoplastic toenails 90% Onycholysis 90% Abnormality of dental morphology 50% Advanced eruption of teeth 50% Delayed eruption of teeth 50% Dry skin 50% Fine hair 50% Reduced number of teeth 50% Abnormality of the hair - Autosomal dominant inheritance - Marked delay in eruption of permanent teeth - Seborrheic dermatitis - 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 Long QT syndrome? Signs and symptoms of the arrhythmias experienced by people with long QT syndrome includes unexplained fainting, seizures, drowning or near drowning, and sudden cardiac arrest or death. You can read more about these and other symptoms of long QT syndrome on the National Heart Lung and Blood Institute's Web site by clicking here. The Human Phenotype Ontology provides the following list of signs and symptoms for Long QT 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) Arrhythmia 90% Sensorineural hearing impairment 90% Abdominal situs inversus 7.5% Anemia 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.
What causes long QT syndrome? Acquired long QT syndrome can be caused by certain medicines and medical conditions. Some medications that cause long QT syndrome include antihistamines and decongestants, antibiotics, antidepressants, and cholesterol-lowering medicines. Examples of medical conditions that can cause long QT syndrome include excessive diarrhea or vomiting and certain thyroid disorders. Inherited forms of long QT syndrome are caused by changes in genes that control the heart muscles electrical activity. Inherited long QT syndrome may be isolated (occur alone without other associated symptoms) or be due to a genetic syndrome, such as Romano-Ward syndrome, Jervell Lang-Nielsen syndrome, Anderson-Tawil syndrome, and Timothy syndrome.
What are the signs and symptoms of Chiari malformation type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Chiari malformation 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) Areflexia of upper limbs - Arnold-Chiari type I malformation - Autosomal dominant inheritance - Babinski sign - Basilar impression - Diplopia - Dysarthria - Dysphagia - Gait ataxia - Headache - Hearing impairment - Hyperacusis - Limb muscle weakness - Lower limb hyperreflexia - Lower limb spasticity - Nystagmus - Paresthesia - Photophobia - Scoliosis - Small flat posterior fossa - Syringomyelia - Tinnitus - Unsteady gait - Urinary incontinence - Vertigo - 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.
Glutaric acidemia type III is a rare metabolic condition characterized by persistent, isolated accumulation or excretion of glutaric acid. No specific phenotype has been described, as symptoms vary and some individuals remain symptom-free. Unlike other types of glutaric acidemia, this type is caused by a peroxisomal rather than a mitochondrial dysfunction. Mutations in the C7ORF10 gene on chromosome 7p14 have been identified in some people with glutaric acidemia type III and the condition follows an autosomal recessive pattern of inheritance. Treatment with riboflavin has been helpful in some patients.
What are the signs and symptoms of Glutaric acidemia type III? The Human Phenotype Ontology provides the following list of signs and symptoms for Glutaric acidemia type III. 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) Goiter 5% Hyperthyroidism 5% Autosomal recessive inheritance - Diarrhea - Failure to thrive - Glutaric aciduria - Hypertension - 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.
Aquagenic pruritus is a condition in which contact with water of any temperature causes intense itching without any visible skin changes. The symptoms may begin immediately after contact with water and can last for an hour or more. The cause of aquagenic pruritus is unknown; however, familial cases have been described. The symptoms of the condition are similar to those seen in patients with other conditions; therefore, a thorough evaluation should be performed to rule out other more serious conditions. Overall, treatment is a challenge. Antihistamines, UVB phototherapy, PUVA therapy and various medications have been tried with varying success.
What causes aquagenic pruritus? The exact cause of aquagenic pruritus is unknown, but increased mast cell degranulation (release of granules rich in histamine and other compounds into the body by mast cells, a special type of cell that plays a role in the immune system), increased circulating histamine, release of acetylcholine (a chemical in the body which sends signals from nerves to muscles and between nerves in the brain), and increased skin fibrinolytic activity (activity that controls clot size by promoting the breakdown of clots) have all been named as possible causes of the condition. In some cases, it appears to be a symptom of polycythemia vera.
How is aquagenic pruritus diagnosed? Criteria for diagnosis include : Severe itching, prickling, stinging, or burning that consistently develops after skin contact with water, regardless of water temperature or salinity; Lack of visible skin manifestations; Reaction within minutes of exposure and lasting anywhere between 10 minutes to 2 hours; Lack of a other skin disease, internal condition, or medication to account for the reaction; and Exclusion of all other physical urticarias, symptomatic dermographism, and polycythemia vera.
What treatment has been attempted in patients who have aquagenic pruritus? The underlying cause of aquagenic pruritus is not well understood which complicates the decision about what therapy might be best for treatment. Various options have been tried with varying success. Antihistamines are the mainstay of treatment. Other therapies that have been tried include adding adding sodium bicarbonate to bath water, topical capsaicin, selective serotonin reuptake inhibitors, UVB phototherapy, PUVA therapy, naltrexone, propranolol, and atenolol.
What are the signs and symptoms of Short rib-polydactyly syndrome type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Short rib-polydactyly syndrome 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) Abnormality of pelvic girdle bone morphology 90% Abnormality of the metaphyses 90% Abnormality of the ribs 90% Brachydactyly syndrome 90% Limb undergrowth 90% Narrow chest 90% Respiratory insufficiency 90% Short thorax 90% Short toe 90% Skeletal dysplasia 90% Abnormal form of the vertebral bodies 50% Congenital hepatic fibrosis 50% Depressed nasal bridge 50% Displacement of the external urethral meatus 50% Epicanthus 50% Frontal bossing 50% Hydrops fetalis 50% Long philtrum 50% Macrocephaly 50% Median cleft lip 50% Postaxial hand polydactyly 50% Aplasia/Hypoplasia of the corpus callosum 7.5% Cataract 7.5% Ectopic anus 7.5% Midline facial cleft 7.5% Omphalocele 7.5% Polycystic kidney dysplasia 7.5% Preaxial hand polydactyly 7.5% Ventriculomegaly 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.
What are the signs and symptoms of Meleda disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Meleda 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) Lichenification 90% Palmoplantar keratoderma 90% Abnormality of the palate 50% Finger syndactyly 50% Hyperhidrosis 50% Hypertrichosis 50% Ichthyosis 50% Skin ulcer 50% Osteolysis 7.5% Abnormality of the mouth - Autosomal recessive inheritance - Brachydactyly syndrome - Congenital symmetrical palmoplantar keratosis - Erythema - Fragile nails - Infantile onset - 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.