umarjan11/Medical-qna huggingface dataset:
Question: What are the genetic changes related to sitosterolemia ?

Answer: Sitosterolemia is caused by mutations in the ABCG5 or ABCG8 gene. These genes provide instructions for making the two halves of a protein called sterolin. This protein is involved in eliminating plant sterols, which cannot be used by human cells.  Sterolin is a transporter protein, which is a type of protein that moves substances across cell membranes. It is found mostly in cells of the intestines and liver. After plant sterols in food are taken into intestinal cells, the sterolin transporters in these cells pump them back into the intestinal tract, decreasing absorption. Sterolin transporters in liver cells pump the plant sterols into a fluid called bile that is released into the intestine. From the intestine, the plant sterols are eliminated with the feces. This process removes most of the dietary plant sterols, and allows only about 5 percent of these substances to get into the bloodstream. Sterolin also helps regulate cholesterol levels in a similar fashion; normally about 50 percent of cholesterol in the diet is absorbed by the body.  Mutations in the ABCG5 or ABCG8 gene that cause sitosterolemia result in a defective sterolin transporter and impair the elimination of plant sterols and, to a lesser degree, cholesterol from the body. These fatty substances build up in the arteries, skin, and other tissues, resulting in atherosclerosis, xanthomas, and the additional signs and symptoms of sitosterolemia. Excess plant sterols, such as sitosterol, in red blood cells likely make their cell membranes stiff and prone to rupture, leading to hemolytic anemia. Changes in the lipid composition of the membranes of red blood cells and platelets may account for the other blood abnormalities that sometimes occur in sitosterolemia.
Question: What is (are) familial hyperaldosteronism ?

Answer: Familial hyperaldosteronism is a group of inherited conditions in which the adrenal glands, which are small glands located on top of each kidney, produce too much of the hormone aldosterone. Aldosterone helps control the amount of salt retained by the kidneys. Excess aldosterone causes the kidneys to retain more salt than normal, which in turn increases the body's fluid levels and blood pressure. People with familial hyperaldosteronism may develop severe high blood pressure (hypertension), often early in life. Without treatment, hypertension increases the risk of strokes, heart attacks, and kidney failure.  Familial hyperaldosteronism is categorized into three types, distinguished by their clinical features and genetic causes. In familial hyperaldosteronism type I, hypertension generally appears in childhood to early adulthood and can range from mild to severe. This type can be treated with steroid medications called glucocorticoids, so it is also known as glucocorticoid-remediable aldosteronism (GRA). In familial hyperaldosteronism type II, hypertension usually appears in early to middle adulthood and does not improve with glucocorticoid treatment. In most individuals with familial hyperaldosteronism type III, the adrenal glands are enlarged up to six times their normal size. These affected individuals have severe hypertension that starts in childhood. The hypertension is difficult to treat and often results in damage to organs such as the heart and kidneys. Rarely, individuals with type III have milder symptoms with treatable hypertension and no adrenal gland enlargement.  There are other forms of hyperaldosteronism that are not familial. These conditions are caused by various problems in the adrenal glands or kidneys. In some cases, a cause for the increase in aldosterone levels cannot be found.
Question: Who is at risk for Breast Cancer? ?

Answer: A family history of breast cancer and other factors increase the risk of breast cancer.
                    Anything that increases your chance of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. Talk to your doctor if you think you may be at risk for breast cancer.    Risk factors for breast cancer include the following:            - A personal history of invasive breast cancer, ductal carcinoma in situ (DCIS), or lobular carcinoma in situ (LCIS).     - A personal history of benign (noncancer) breast disease.     - A family history of breast cancer in a first-degree relative (mother, daughter, or sister).     - Inherited changes in the  BRCA1  or  BRCA2  genes or in other genes that increase the risk of breast cancer.     - Breast tissue that is dense on a mammogram.     -  Exposure of breast tissue to estrogen made by the body. This may be caused by:                  -  Menstruating at an early age.       -  Older age at first birth or never having given birth.       - Starting menopause at a later age.                - Taking hormones such as estrogen combined with progestin for symptoms of menopause.     - Treatment with radiation therapy to the breast/chest.     - Drinking alcohol.     -  Obesity.           Older age is the main risk factor for most cancers. The chance of getting cancer increases as you get older.      NCI's Breast Cancer Risk Assessment Tool uses a woman's risk factors to estimate her risk for breast cancer during the next five years and up to age 90. This online tool is meant to be used by a health care provider. For more information on breast cancer risk, call 1-800-4-CANCER.
Question: What are the symptoms of Dihydropteridine reductase deficiency ?

Answer: What are the signs and symptoms of Dihydropteridine reductase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Dihydropteridine reductase 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) Cognitive impairment 90% Microcephaly 90% Autosomal recessive inheritance - Cerebral calcification - Choreoathetosis - Dysphagia - Dystonia - Episodic fever - Excessive salivation - Hyperphenylalaninemia - Hypertonia - Infantile onset - Intellectual disability - Irritability - Muscular hypotonia - Myoclonus - Progressive neurologic deterioration - Seizures - Tremor - Variable expressivity - 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 Glomerulopathy with fibronectin deposits 1 ?

Answer: What are the signs and symptoms of Glomerulopathy with fibronectin deposits 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Glomerulopathy with fibronectin deposits 1. 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) Edema of the lower limbs 90% Glomerulopathy 90% Hematuria 90% Hypertension 90% Nephrotic syndrome 90% Proteinuria 90% Renal insufficiency 90% Intracranial hemorrhage 7.5% Autosomal dominant inheritance - Lobular glomerulopathy - Microscopic hematuria - Nephropathy - Slow progression - Stage 5 chronic kidney disease - 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 Focal facial dermal dysplasia ?

Answer: What are the signs and symptoms of Focal facial dermal dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Focal facial dermal dysplasia. 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 facial shape 90% Abnormality of the eye 90% Abnormality of the musculature 90% Aplasia/Hypoplasia of the skin 90% Atypical scarring of skin 90% Irregular hyperpigmentation 90% Abnormality of the eyebrow 50% Abnormality of the mouth 50% Depressed nasal bridge 50% Palpebral edema 50% Pointed chin 50% Autosomal dominant inheritance - Decreased subcutaneous fat - 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 Narcolepsy ?

Answer: What are the signs and symptoms of Narcolepsy? The Human Phenotype Ontology provides the following list of signs and symptoms for Narcolepsy. 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) Hallucinations 90% Memory impairment 90% Muscle weakness 90% Reduced consciousness/confusion 90% Sleep disturbance 90% Abnormality of eye movement 50% Neurological speech impairment 7.5% Obesity 7.5% Sudden cardiac death 7.5% Abnormal rapid eye movement (REM) sleep - Autosomal dominant inheritance - Cataplexy - Excessive daytime sleepiness - Heterogeneous - Hypnagogic hallucinations - Hypnopompic hallucinations - Narcolepsy - Paroxysmal drowsiness - 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 Alopecia epilepsy oligophrenia syndrome of Moynahan ?

Answer: What are the signs and symptoms of Alopecia epilepsy oligophrenia syndrome of Moynahan? The Human Phenotype Ontology provides the following list of signs and symptoms for Alopecia epilepsy oligophrenia syndrome of Moynahan. 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) Alopecia 90% Cognitive impairment 90% Abnormality of the genital system 50% Decreased body weight 50% Microcephaly 50% Seizures 50% Short stature 50% Hyperkeratosis 7.5% Sensorineural hearing impairment 7.5% Autosomal recessive inheritance - EEG abnormality - Intellectual disability - Sparse hair - 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 Glutathione synthetase deficiency ?

Answer: What are the signs and symptoms of Glutathione synthetase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Glutathione synthetase 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 immune system physiology 90% Abnormality of metabolism/homeostasis 90% Abnormality of the nervous system 90% Anemia 90% Ataxia - Autosomal recessive inheritance - Chronic metabolic acidosis - Dysarthria - Glutathione synthetase deficiency - Hemolytic anemia - Intellectual disability - Intention tremor - Neutropenia - Pigmentary retinopathy - Psychotic mentation - Seizures - Spastic tetraparesis - 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: How to prevent Alpha-1 Antitrypsin Deficiency ?

Answer: You can't prevent alpha-1 antitrypsin (AAT) deficiency because the condition is inherited (passed from parents to children through genes).
                
If you inherit two faulty AAT genes, you'll have AAT deficiency. Even so, you may never develop one of the diseases related to the condition.
                
You can take steps to prevent or delay lung diseases related to AAT deficiency. One important step is to quit smoking. If you don't smoke, don't start.
                
Talk with your doctor about programs and products that can help you quit smoking. If you have trouble quitting smoking on your own, consider joining a support group. Many hospitals, workplaces, and community groups offer classes to help people quit smoking.
                
For more information about how to quit smoking, go to the Health Topics Smoking and Your Heart article and the National Heart, Lung, and Blood Institute's "Your Guide to a Healthy Heart." Although these resources focus on heart health, they include basic information about how to quit smoking.
                
Also, try to avoid secondhand smoke and places with dust, fumes, or other toxic substances that you may inhale.
                
Check your living and working spaces for things that may irritate your lungs. Examples include flower and tree pollen, ash, allergens, air pollution, wood burning stoves, paint fumes, and fumes from cleaning products and other household items.
                
If you have a lung disease related to AAT deficiency, ask your doctor whether you might benefit from augmentation therapy. This is a treatment in which you receive infusions of AAT protein.
                
Augmentation therapy raises the level of AAT protein in your blood and lungs. (For more information, go to "How Is Alpha-1 Antitrypsin Deficiency Treated?")
Question: What is (are) frontotemporal dementia with parkinsonism-17 ?

Answer: Frontotemporal dementia with parkinsonism-17 (FTDP-17) is a progressive brain disorder that affects behavior, language, and movement. The symptoms of this disorder usually become noticeable in a person's forties or fifties. Most affected people survive 5 to 10 years after the appearance of symptoms, although a few have survived for two decades or more.  Changes in personality and behavior are often early signs of FTDP-17. These changes include a loss of inhibition, inappropriate emotional responses, restlessness, neglect of personal hygiene, and a general loss of interest in activities and events. The disease also leads to deterioration of cognitive functions (dementia), including problems with judgment, planning, and concentration. Some people with FTDP-17 develop psychiatric symptoms, including obsessive-compulsive behaviors, delusions, and hallucinations. It may become difficult for affected individuals to interact with others in a socially appropriate manner. They increasingly require help with personal care and other activities of daily living.  Many people with FTDP-17 develop problems with speech and language. They may have trouble finding words, confuse one word with another (semantic paraphasias), and repeat words spoken by others (echolalia). Difficulties with speech and language worsen over time, and most affected individuals eventually lose the ability to communicate.  FTDP-17 is also characterized by progressive problems with movement. Many affected individuals develop features of parkinsonism, including tremors, rigidity, and unusually slow movement (bradykinesia). As the disease progresses, most affected individuals become unable to walk. Some people with FTDP-17 also have restricted up-and-down eye movement (vertical gaze palsy) and rapid abnormal movements of both eyes (saccades).
Question: What is (are) Financial Help for Diabetes Care ?

Answer: Assistive technology is any device that assists, adapts, or helps to rehabilitate someone with a disability so he or she may function more safely, effectively, and independently at home, at work, and in the community. Assistive technology may include
                
- computers with features that make them accessible to people with disabilities  - adaptive equipment, such as wheelchairs  - bathroom modifications, such as grab bars or shower seats
                
The following organizations may be able to provide information, awareness, and training in the use of technology to assist people with disabilities:
                
Alliance for Technology Access 1119 Old Humboldt Road Jackson, TN 38305 Phone: 18009143017 or 7315545ATA (7315545282) TTY: 7315545284 Fax: 7315545283 Email: atainfo@ataccess.org Internet: www.ataccess.org
                
National Assistive Technology Technical Assistance Partnership 1700 North Moore Street, Suite 1540 Arlington, VA 222091903 Phone: 7035246686 Fax: 7035246630 TTY: 7035246639 Email: resnaTA@resna.org Internet: www.resnaprojects.org/nattap
                
United Cerebral Palsy 1825 K Street NW, Suite 600 Washington, D.C. 20006 Phone: 18008725827 or 2027760406 Internet: www.ucp.org/resources/assistive-technology
Question: What are the symptoms of Cushing's Syndrome ?

Answer: Signs and symptoms of Cushing's syndrome vary, but most people with the disorder have upper body obesity, a rounded face, increased fat around the neck, and relatively slender arms and legs. Children tend to be obese with slowed growth rates.
                
Other signs appear in the skin, which becomes fragile and thin, bruises easily, and heals poorly. Purple or pink stretch marks may appear on the abdomen, thighs, buttocks, arms, and breasts. The bones are weakened, and routine activities such as bending, lifting, or rising from a chair may lead to backaches and rib or spinal column fractures.
                
Women with Cushing's syndrome usually have excess hair growth on their face, neck, chest, abdomen, and thighs. Their menstrual periods may become irregular or stop. Men may have decreased fertility with diminished or absent desire for sex and, sometimes, erectile dysfunction.
                
Other common signs and symptoms include
                
- severe fatigue  - weak muscles  - high blood pressure  - high blood glucose  - increased thirst and urination  - irritability, anxiety, or depression  - a fatty hump between the shoulders
                
Sometimes other conditions have many of the same signs as Cushing's syndrome, even though people with these disorders do not have abnormally elevated cortisol levels. For example, polycystic ovary syndrome can cause menstrual disturbances, weight gain beginning in adolescence, excess hair growth, and impaired insulin action and diabetes. Metabolic syndrome-a combination of problems that includes excess weight around the waist, high blood pressure, abnormal levels of cholesterol and triglycerides in the blood, and insulin resistance-also mimics the symptoms of Cushing's syndrome.