umarjan11/Medical-qna huggingface dataset:
Question: What are the symptoms of Multisystemic smooth muscle dysfunction syndrome ?

Answer: What are the signs and symptoms of Multisystemic smooth muscle dysfunction syndrome? Symptoms for people with multisystemic smooth muscle dysfunction syndrome can include the following : Congenital mydriasis (fixed dilated pupils) Patent Ductus Arteriosus Vascular problems including aneurysms Gastrintestinal problems Weak bladder Lung disease White matter abnormalities Changes consistent with MoyaMoya disease The Human Phenotype Ontology provides the following list of signs and symptoms for Multisystemic smooth muscle dysfunction 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) Autosomal dominant inheritance - Cerebral aneurysm - Cryptorchidism - Hyperperistalsis - Intestinal malrotation - Mydriasis - Patent ductus arteriosus - Pulmonary hypertension - Retinal infarction - Tachypnea - Thoracic aortic aneurysm - 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 Hyperthermia induced defects ?

Answer: What are the signs and symptoms of Hyperthermia induced defects? The Human Phenotype Ontology provides the following list of signs and symptoms for Hyperthermia induced defects. 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 prenatal development or birth 90% Cognitive impairment 90% EEG abnormality 90% Muscular hypotonia 90% Seizures 90% Short stature 90% Abnormality of neuronal migration 50% Aplasia/Hypoplasia affecting the eye 50% Cleft palate 50% Clinodactyly of the 5th finger 50% Hypoplasia of penis 50% Intrauterine growth retardation 50% Limitation of joint mobility 50% Malar flattening 50% Microcephaly 50% Single transverse palmar crease 50% Hypertonia 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.
Question: What is (are) Pneumonia ?

Answer: Pneumonia (nu-MO-ne-ah) is an infection in one or both of the lungs. Many germssuch as bacteria, viruses, and fungican cause pneumonia.
                
The infection inflames your lungs' air sacs, which are called alveoli (al-VEE-uhl-eye). The air sacs may fill up with fluid or pus, causing symptoms such as a cough with phlegm (a slimy substance), fever, chills, and trouble breathing.
                
Overview
                
Pneumonia and its symptoms can vary from mild to severe. Many factors affect how serious pneumonia is, such as the type of germ causing the infection and your age and overall health.
                
Pneumonia tends to be more serious for:
                
Infants and young children.
                
Older adults (people 65 years or older).
                
People who have other health problems, such as heart failure, diabetes, or COPD (chronic obstructive pulmonary disease).
                
People who have weak immune systems as a result of diseases or other factors. Examples of these diseases and factors include HIV/AIDS, chemotherapy (a treatment for cancer), and an organ transplant or blood and marrow stem cell transplant.
                
Outlook
                
Pneumonia is common in the United States. Treatment for pneumonia depends on its cause, how severe your symptoms are, and your age and overall health. Many people can be treated at home, often with oral antibiotics.
                
Children usually start to feel better in 1 to 2 days. For adults, it usually takes 2 to 3 days. Anyone who has worsening symptoms should see a doctor.
                
People who have severe symptoms or underlying health problems may need treatment in a hospital. It may take 3 weeks or more before they can go back to their normal routines.
                
Fatigue (tiredness) from pneumonia can last for a month or more.
Question: Who is at risk for Heart Attack? ?

Answer: Certain risk factors make it more likely that you'll develop coronary heart disease (CHD) and have a heart attack. You can control many of these risk factors.
                
Risk Factors You Can Control
                
The major risk factors for a heart attack that you can control include:
                
Smoking
                
High blood pressure
                
High blood cholesterol
                
Overweight and obesity
                
An unhealthy diet (for example, a diet high in saturated fat, trans fat, cholesterol, and sodium)
                
Lack of routine physical activity
                
High blood sugar due to insulin resistance or diabetes
                
Some of these risk factorssuch as obesity, high blood pressure, and high blood sugartend to occur together. When they do, it's called metabolic syndrome.
                
In general, a person who has metabolic syndrome is twice as likely to develop heart disease and five times as likely to develop diabetes as someone who doesn't have metabolic syndrome.
                
For more information about the risk factors that are part of metabolic syndrome, go to the Health Topics Metabolic Syndrome article.
                
Risk Factors You Can't Control
                
Risk factors that you can't control include:
                
Age. The risk of heart disease increases for men after age 45 and for women after age 55 (or after menopause).
                
Family history of early heart disease. Your risk increases if your father or a brother was diagnosed with heart disease before 55 years of age, or if your mother or a sister was diagnosed with heart disease before 65 years of age.
                
Preeclampsia (pre-e-KLAMP-se-ah). This condition can develop during pregnancy. The two main signs of preeclampsia are a rise in blood pressure and excess protein in the urine. Preeclampsia is linked to an increased lifetime risk of heart disease, including CHD, heart attack, heart failure, and high blood pressure.
Question: What are the genetic changes related to peroxisomal acyl-CoA oxidase deficiency ?

Answer: Peroxisomal acyl-CoA oxidase deficiency is caused by mutations in the ACOX1 gene, which provides instructions for making an enzyme called peroxisomal straight-chain acyl-CoA oxidase. This enzyme is found in sac-like cell structures (organelles) called peroxisomes, which contain a variety of enzymes that break down many different substances. The peroxisomal straight-chain acyl-CoA oxidase enzyme plays a role in the breakdown of certain fat molecules called very long-chain fatty acids (VLCFAs). Specifically, it is involved in the first step of a process called the peroxisomal fatty acid beta-oxidation pathway. This process shortens the VLCFA molecules by two carbon atoms at a time until the VLCFAs are converted to a molecule called acetyl-CoA, which is transported out of the peroxisomes for reuse by the cell.  ACOX1 gene mutations prevent the peroxisomal straight-chain acyl-CoA oxidase enzyme from breaking down VLCFAs efficiently. As a result, these fatty acids accumulate in the body. It is unclear exactly how VLCFA accumulation leads to the specific features of peroxisomal acyl-CoA oxidase deficiency. However, researchers suggest that the abnormal fatty acid accumulation triggers inflammation in the nervous system that leads to the breakdown of myelin, which is the covering that protects nerves and promotes the efficient transmission of nerve impulses. Destruction of myelin leads to a loss of myelin-containing tissue (white matter) in the brain and spinal cord; loss of white matter is described as leukodystrophy. Leukodystrophy is likely involved in the development of the neurological abnormalities that occur in peroxisomal acyl-CoA oxidase deficiency.
Question: What are the genetic changes related to sick sinus syndrome ?

Answer: Sick sinus syndrome can result from genetic or environmental factors. In many cases, the cause of the condition is unknown.  Genetic changes are an uncommon cause of sick sinus syndrome. Mutations in two genes, SCN5A and HCN4, have been found to cause the condition in a small number of families. These genes provide instructions for making proteins called ion channels that transport positively charged atoms (ions) into cardiac cells, including cells that make up the SA node. The flow of these ions is essential for creating the electrical impulses that start each heartbeat and coordinate contraction of the cardiac muscle. Mutations in these genes reduce the flow of ions, which alters the SA node's ability to create and spread electrical signals. These changes lead to abnormal heartbeats and the other symptoms of sick sinus syndrome.  A particular variation in another gene, MYH6, appears to increase the risk of developing sick sinus syndrome. The protein produced from the MYH6 gene forms part of a larger protein called myosin, which generates the mechanical force needed for cardiac muscle to contract. Researchers believe that the MYH6 gene variation changes the structure of myosin, which can affect cardiac muscle contraction and increase the likelihood of developing an abnormal heartbeat.  More commonly, sick sinus syndrome is caused by other factors that alter the structure or function of the SA node. These include a variety of heart conditions, other disorders such as muscular dystrophy, abnormal inflammation, or a shortage of oxygen (hypoxia). Certain medications, such as drugs given to treat abnormal heart rhythms or high blood pressure, can also disrupt SA node function. One of the most common causes of sick sinus syndrome in children is trauma to the SA node, such as damage that occurs during heart surgery.  In older adults, sick sinus syndrome is often associated with age-related changes in the heart. Over time, the SA node may harden and develop scar-like damage (fibrosis) that prevents it from working properly.
Question: What to do for Anemia in Chronic Kidney Disease ?

Answer: A health care provider may advise people with kidney disease who have anemia caused by iron, vitamin B12, or folic acid deficiencies to include sources of these nutrients in their diets. Some of these foods are high in sodium or phosphorus, which people with CKD should limit in their diet. Before making any dietary changes, people with CKD should talk with their health care provider or with a dietitian who specializes in helping people with kidney disease. A dietitian can help a person plan healthy meals.
                
Read more about nutrition for people with CKD on the National Kidney Disease Education Program website.
                
The following chart illustrates some good dietary sources of iron, vitamin B12, and folic acid.
                
Food    Serving Size    Iron    Vitamin B12    Folic Acid          Recommended Daily Value        18 mg    6 mcg    400 mcg        100 percent fortified breakfast cereal     cup (1 oz)    18 mg    6 mcg    394 mcg        beans, baked    1 cup (8 oz)    8 mg    0 mcg    37 mcg        beef, ground    3 oz    2 mg    2 mcg    8 mcg        beef liver    3 oz    5 mg    67 mcg    211 mcg        clams, fried    4 oz    3 mg    1 mcg    66 mcg        spinach, boiled    1 cup (3 oz)    2 mg    0 mcg    115 mcg        spinach, fresh    1 cup (1 oz)    1 mg    0 mcg    58 mcg        trout    3 oz    0 mg    5 mcg    16 mcg        tuna, canned    3 oz    1 mg    1 mcg    2 mcg
Question: What are the symptoms of Birt-Hogg-Dube syndrome ?

Answer: What are the signs and symptoms of Birt-Hogg-Dube syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Birt-Hogg-Dube syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the skin 90% Emphysema 90% Abnormality of retinal pigmentation 50% Multiple lipomas 50% Neoplasm of the gastrointestinal tract 7.5% Neoplasm of the parathyroid gland 7.5% Neoplasm of the thyroid gland 7.5% Renal neoplasm 7.5% Salivary gland neoplasm 7.5% Abnormality of the abdomen - Abnormality of the hair - Autosomal dominant inheritance - Fibrofolliculoma - Renal cell carcinoma - Renal cyst - Spontaneous pneumothorax - 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 Tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities ?

Answer: What are the signs and symptoms of Tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities? The Human Phenotype Ontology provides the following list of signs and symptoms for Tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities. 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 metabolism/homeostasis - Absent lacrimal punctum - Autosomal recessive inheritance - Bulbous nose - Constipation - Cryptorchidism - Downturned corners of mouth - Ectodermal dysplasia - High, narrow palate - Hypoplastic lacrimal duct - Hypotrichosis - Intellectual disability - Preauricular pit - Sacral dimple - Tetraamelia - Umbilical hernia - Upslanted palpebral fissure - Wide mouth - 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 Glycogen storage disease type 1B ?

Answer: What are the signs and symptoms of Glycogen storage disease type 1B? The Human Phenotype Ontology provides the following list of signs and symptoms for Glycogen storage disease type 1B. 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 - Decreased glomerular filtration rate - Delayed puberty - Doll-like facies - Elevated hepatic transaminases - Enlarged kidneys - Focal segmental glomerulosclerosis - Gout - Hepatocellular carcinoma - Hepatomegaly - Hyperlipidemia - Hypertension - Hypoglycemia - Lactic acidosis - Lipemia retinalis - Nephrolithiasis - Neutropenia - Oral ulcer - Osteoporosis - Pancreatitis - Proteinuria - Protuberant abdomen - Recurrent bacterial infections - Short stature - Xanthomatosis - 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 Hemolytic Uremic Syndrome in Children ?

Answer: A child with hemolytic uremic syndrome may develop signs and symptoms similar to those seen with gastroenteritisan inflammation of the lining of the stomach, small intestine, and large intestine such as
                
- vomiting  - bloody diarrhea  - abdominal pain  - fever and chills  - headache
                
As the infection progresses, the toxins released in the intestine begin to destroy red blood cells. When the red blood cells are destroyed, the child may experience the signs and symptoms of anemiaa condition in which red blood cells are fewer or smaller than normal, which prevents the body's cells from getting enough oxygen.
                
Signs and symptoms of anemia may include
                
- fatigue, or feeling tired  - weakness  - fainting  - paleness
                
As the damaged red blood cells clog the glomeruli, the kidneys may become damaged and make less urine. When damaged, the kidneys work harder to remove wastes and extra fluid from the blood, sometimes leading to acute kidney injury.
                
Other signs and symptoms of hemolytic uremic syndrome may include bruising and seizures.
                
When hemolytic uremic syndrome causes acute kidney injury, a child may have the following signs and symptoms:
                
- edemaswelling, most often in the legs, feet, or ankles and less often in the hands or face  - albuminuriawhen a child's urine has high levels of albumin, the main protein in the blood  - decreased urine output  - hypoalbuminemiawhen a child's blood has low levels of albumin  - blood in the urine
                

                
Seek Immediate Care   Parents or caretakers should seek immediate care for a child experiencing any urgent symptoms, such as   - unusual bleeding   - swelling   - extreme fatigue   - decreased urine output   - unexplained bruises
Question: What are the symptoms of Hairy elbows ?

Answer: What are the signs and symptoms of Hairy elbows? The Human Phenotype Ontology provides the following list of signs and symptoms for Hairy elbows. 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 elbow 90% Abnormality of the mandible 90% Hypertrichosis 90% Micromelia 90% Short stature 90% Facial asymmetry 50% Neurological speech impairment 50% Round face 50% Abnormality of the neck 7.5% Cognitive impairment 7.5% Delayed skeletal maturation 7.5% High forehead 7.5% Joint hypermobility 7.5% Microcephaly 7.5% Prominent nasal bridge 7.5% Ptosis 7.5% Thick eyebrow 7.5% Autosomal dominant inheritance - Elbow hypertrichosis - 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.