umarjan11/Medical-qna huggingface dataset:
Question: What is (are) Senior-Lken syndrome ?

Answer: Senior-Lken syndrome is a rare disorder characterized by the combination of two specific features: a kidney condition called nephronophthisis and an eye condition known as Leber congenital amaurosis.  Nephronophthisis causes fluid-filled cysts to develop in the kidneys beginning in childhood. These cysts impair kidney function, initially causing increased urine production (polyuria), excessive thirst (polydipsia), general weakness, and extreme tiredness (fatigue). Nephronophthisis leads to end-stage renal disease (ESRD) later in childhood or in adolescence. ESRD is a life-threatening failure of kidney function that occurs when the kidneys are no longer able to filter fluids and waste products from the body effectively.  Leber congenital amaurosis primarily affects the retina, which is the specialized tissue at the back of the eye that detects light and color. This condition causes vision problems, including an increased sensitivity to light (photophobia), involuntary movements of the eyes (nystagmus), and extreme farsightedness (hyperopia). Some people with Senior-Lken syndrome develop the signs of Leber congenital amaurosis within the first few years of life, while others do not develop vision problems until later in childhood.
Question: What are the genetic changes related to hereditary pancreatitis ?

Answer: Mutations in the PRSS1 gene cause most cases of hereditary pancreatitis. The PRSS1 gene provides instructions for making an enzyme called cationic trypsinogen. This enzyme is produced in the pancreas and helps with the digestion of food. When cationic trypsinogen is needed, it is released (secreted) from the pancreas and transported to the small intestine, where it is cut (cleaved) into its working or active form called trypsin. When digestion is complete and trypsin is no longer needed, the enzyme is broken down.  Some PRSS1 gene mutations that cause hereditary pancreatitis result in the production of a cationic trypsinogen enzyme that is prematurely converted to trypsin while it is still in the pancreas. Other mutations prevent trypsin from being broken down. These changes result in elevated levels of trypsin in the pancreas. Trypsin activity in the pancreas can damage pancreatic tissue and can also trigger an immune response, causing inflammation in the pancreas.  It is estimated that 65 to 80 percent of people with hereditary pancreatitis have mutations in the PRSS1 gene. The remaining cases are caused by mutations in other genes, some of which have not been identified.
Question: Is osteopetrosis inherited ?

Answer: Osteopetrosis can have several different patterns of inheritance. Most commonly, the disorder has an autosomal dominant inheritance pattern, which means one copy of an altered gene in each cell is sufficient to cause the disorder. Most people with autosomal dominant osteopetrosis inherit the condition from an affected parent.  Osteopetrosis can also be inherited in an autosomal recessive pattern, which means both copies of a gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.  OL-EDA-ID is inherited in an X-linked recessive pattern. The IKBKG gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.
Question: What are the treatments for National Hormone and Pituitary Program (NHPP): Information for People Treated with Pituitary Human Growth Hormone (Comprehensive Report) ?

Answer: The best source for details on your treatment is the doctor or center that gave you pituitary hGH. To protect patient privacy, the HHS did not ask for the names of those treated with pituitary hGH until 1985, when the first CJD cases were reported. In 1985, the HHS asked doctors and treatment centers for the names and addresses of recipients to inform them of the risk of CJD.
                
We know which pituitary hGH preparations were sent to each treatment center and when they were sent. However, because individual doctors administered the pituitary hGH, we don't know which preparation each person might have gotten. We have tried to find this information in the medical records of patients who developed CJD, but many doctors did not note the specific preparation in their records. When records were incomplete, it was assumed that patients who got CJD might have been exposed to all preparations sent to their treatment center during the time they were treated. Since it is impossible to confidently identify high-risk or risk-free hormone, we do not think that details on the hormone preparations that individuals received will help to clarify individual level of risk.
Question: What is (are) Diabetic Neuropathies: The Nerve Damage of Diabetes ?

Answer: Peripheral neuropathy, also called distal symmetric neuropathy or sensorimotor neuropathy, is nerve damage in the arms and legs. Feet and legs are likely to be affected before hands and arms. Many people with diabetes have signs of neuropathy that a doctor could note but feel no symptoms themselves. Symptoms of peripheral neuropathy may include
                
- numbness or insensitivity to pain or temperature  - a tingling, burning, or prickling sensation  - sharp pains or cramps  - extreme sensitivity to touch, even light touch  - loss of balance and coordination
                
These symptoms are often worse at night.
                
Peripheral neuropathy may also cause muscle weakness and loss of reflexes, especially at the ankle, leading to changes in the way a person walks. Foot deformities, such as hammertoes and the collapse of the midfoot, may occur. Blisters and sores may appear on numb areas of the foot because pressure or injury goes unnoticed. If an infection occurs and is not treated promptly, the infection may spread to the bone, and the foot may then have to be amputated. Many amputations are preventable if minor problems are caught and treated in time.
Question: What is (are) Dry Mouth ?

Answer: Dry mouth is the feeling that there is not enough saliva in the mouth. Everyone has dry mouth once in a while -- if they are nervous, upset, under stress, or taking certain medications. But if you have dry mouth all or most of the time, see a dentist or physician. Many older adults have dry mouth, but it is not a normal part of aging. (Watch the video to learn more about dry mouth. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.) Why Saliva is Important Saliva does more than keep your mouth wet. It protects teeth from decay, helps heal sores in your mouth, and prevents infection by controlling bacteria, viruses, and fungi in the mouth. Saliva helps digest food and helps us chew and swallow. Saliva is involved in taste perception as well. Each of these functions of saliva is hampered when a person has dry mouth. How Dry Mouth Feels Dry mouth can be uncomfortable. Some people notice a sticky, dry feeling in the mouth. Others notice a burning feeling or difficulty while eating. The throat may feel dry, too, making swallowing difficult and choking common. Also, people with dry mouth may get mouth sores, cracked lips, and a dry, rough tongue.
Question: Who is at risk for Colon Cancer? ?

Answer: Health history affects the risk of developing colon 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 doesnt mean that you will not get cancer. Talk to your doctor if you think you may be at risk for colorectal cancer.    Risk factors for colorectal cancer include the following:            - Having a family history of colon or rectal cancer in a first-degree relative (parent, sibling, or child).     - Having a personal history of cancer of the colon, rectum, or ovary.     - Having a personal history of high-risk adenomas (colorectal polyps that are 1 centimeter or larger in size or that have cells that look abnormal under a microscope).     - Having inherited changes in certain genes that increase the risk of familial adenomatous polyposis (FAP) or Lynch syndrome (hereditary nonpolyposis colorectal cancer).     - Having a personal history of chronic ulcerative colitis or Crohn disease for 8 years or more.     - Having three or more alcoholic drinks per day.     - Smoking cigarettes.     - Being black.     - Being obese.           Older age is a main risk factor for most cancers. The chance of getting cancer increases as you get older.
Question: What is (are) Hepatitis B ?

Answer: Your liver is the largest organ inside your body. It helps your body digest food, store energy, and remove poisons. Hepatitis is an inflammation of the liver. One type, hepatitis B, is caused by the hepatitis B virus (HBV). Hepatitis B spreads by contact with an infected person's blood, semen, or other body fluid. An infected woman can give hepatitis B to her baby at birth.    If you get HBV, you may feel as if you have the flu. You may also have jaundice, a yellowing of skin and eyes, dark-colored urine, and pale bowel movements. Some people have no symptoms at all. A blood test can tell if you have it. HBV usually gets better on its own after a few months. If it does not get better, it is called chronic HBV, which lasts a lifetime. Chronic HBV can lead to scarring of the liver, liver failure, or liver cancer.    There is a vaccine for HBV. It requires three shots. All babies should get the vaccine, but older children and adults can get it too. If you travel to countries where Hepatitis B is common, you should get the vaccine.    NIH: National Institute of Diabetes and Digestive and Kidney Diseases
Question: Do you have information about Water Pollution

Answer: Summary : We all need clean water. People need it to grow crops and to operate factories, and for drinking and recreation. Fish and wildlife depend on it to survive.     Many different pollutants can harm our rivers, streams, lakes, and oceans. The three most common are soil, nutrients, and bacteria. Rain washes soil into streams and rivers. The soil can kill tiny animals and fish eggs. It can clog the gills of fish and block light, causing plants to die. Nutrients, often from fertilizers, cause problems in lakes, ponds, and reservoirs. Nitrogen and phosphorus make algae grow and can turn water green. Bacteria, often from sewage spills, can pollute fresh or salt water.     You can help protect your water supply:       - Don't pour household products such as cleansers, beauty products, medicines, auto fluids, paint, and lawn care products down the drain. Take them to a hazardous waste collection site.    - Throw away excess household grease (meat fats, lard, cooking oil, shortening, butter, margarine, etc.) diapers, condoms, and personal hygiene products in the garbage can.    - Clean up after your pets. Pet waste contains nutrients and germs.       Environmental Protection Agency
Question: Do you have information about Antioxidants

Answer: Summary : Antioxidants are man-made or natural substances that may prevent or delay some types of cell damage. Antioxidants are found in many foods, including fruits and vegetables. They are also available as dietary supplements. Examples of antioxidants include       -  Beta-carotene     -  Lutein     -  Lycopene    -  Selenium    -  Vitamin A    -  Vitamin C    -  Vitamin E       Vegetables and fruits are rich sources of antioxidants. There is good evidence that eating a diet with lots of vegetables and fruits is healthy and lowers risks of certain diseases. But it isn't clear whether this is because of the antioxidants, something else in the foods, or other factors.    High-dose supplements of antioxidants may be linked to health risks in some cases. For example, high doses of beta-carotene may increase the risk of lung cancer in smokers. High doses of vitamin E may increase risks of prostate cancer and one type of stroke. Antioxidant supplements may also interact with some medicines. To minimize risk, tell you of your health care providers about any antioxidants you use.    NIH: National Center for Complementary and Integrative Health
Question: Do you have information about Vitamin D

Answer: Summary : Vitamins are substances that your body needs to grow and develop normally. Vitamin D helps your body absorb calcium. Calcium is one of the main building blocks of bone. A lack of vitamin D can lead to bone diseases such as osteoporosis or rickets. Vitamin D also has a role in your nerve, muscle, and immune systems.    You can get vitamin D in three ways: through your skin, from your diet, and from supplements. Your body forms vitamin D naturally after exposure to sunlight. However, too much sun exposure can lead to skin aging and skin cancer. So many people try to get their vitamin D from other sources.    Vitamin D-rich foods include egg yolks, saltwater fish, and liver. Some other foods, like milk and cereal, often have added vitamin D.     You can also take vitamin D supplements. Check with your health care provider to see how much you should take. People who might need extra vitamin D include       - Seniors    - Breastfed infants    - People with dark skin    - People with certain conditions, such as liver diseases, cystic fibrosis and Crohn's disease    - People who are obese or have had gastric bypass surgery       NIH: National Institutes of Health Office of Dietary Supplements
Question: What are the treatments for Wolman disease ?

Answer: How can I find additional comprehensive information on the treatment of Wolman disease? You can find relevant journal articles on Wolman syndrome and its treatment through a service called PubMed, a searchable database of medical literature. Information on finding an article and its title, authors, and publishing details is listed here. Some articles are available as a complete document, while information on other studies is available as a summary abstract. To obtain the full article, contact a medical/university library (or your local library for interlibrary loan), or order it online using the following link. Using "Wolman syndrome[ti] treatment" as your search term should locate articles. To narrow your search, click on the Limits tab under the search box and specify your criteria for locating more relevant articles. Click here to view a search. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed   The National Library of Medicine (NLM) Web site has a page for locating libraries in your area that can provide direct access to these journals (print or online). The Web page also describes how you can get these articles through interlibrary loan and Loansome Doc (an NLM document-ordering service). You can access this page at the following link http://nnlm.gov/members/. You can also contact the NLM toll-free at 888-346-3656 to locate libraries in your area.
Question: What are the symptoms of Ectopia pupillae ?

Answer: What are the signs and symptoms of Ectopia pupillae? The Human Phenotype Ontology provides the following list of signs and symptoms for Ectopia pupillae. 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 - Ectopia pupillae - 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 Peyronie disease ?

Answer: What are the signs and symptoms of Peyronie disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Peyronie 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) Abnormality of the genitourinary system - Abnormality of the skeletal system - 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 Essential tremor ?

Answer: What are the signs and symptoms of Essential tremor? The Human Phenotype Ontology provides the following list of signs and symptoms for Essential tremor. 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 - Dysarthria - Hand tremor - Postural tremor - Progressive - 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 causes Fragile X syndrome ?

Answer: What causes fragile X syndrome? Mutations (changes) in the FMR1 gene cause fragile X syndrome (FXS). This gene carries instructions to make a protein called the fragile X mental retardation 1 protein. The FMR1 gene contains a section of DNA called a CGG triplet repeat, which normally repeats from 5 to around 40 times. In most cases of FXS, this section of DNA is repeated more than 200 times, which "turns off" the FMR1 gene and disrupts the function of the nervous system. In a small portion of cases, other types of changes in the FMR1 gene cause FXS. These changes may involve a deletion of all or part of the gene, or a change in the building blocks (amino acids) used to make the gene's protein. People with 55 to 200 repeats of the CGG segment are said to have an FMR1 premutation. Most people with a premutation are intellectually normal. In some cases, people with a premutation have lower levels of the gene's protein and may have some mild symptoms of FXS. About 20% of women with a premutation have premature ovarian failure, and some people with a premutation have an increased risk of developing fragile X-associated tremor/ataxia syndrome (FXTAS).
Question: What are the treatments for Notalgia paresthetica ?

Answer: How might notalgia paresthetica be treated? While this condition may be difficult to treat, typical neuralgia therapies are often employed with moderate success. Effective measures may include:  Cooling lotions as required (camphor and menthol) Capsaicin cream - this depletes nerve endings of their chemical transmitters Local anaesthetic creams Amitriptyline tablets at night Transcutaneous electrical nerve stimulation (TENS) Gabapentin Oxcarbazepine Botulinum toxin Phototherapy Exercise Additional information about treatment of notalgia paresthetica can be accessed by clicking here. You can find relevant journal articles on treatment of notalgia paresthetica through a service called PubMed, a searchable database of medical literature. Information on finding an article and its title, authors, and publishing details is listed here. Some articles are available as a complete document, while information on other studies is available as a summary abstract. To obtain the full article, contact a medical/university library (or your local library for interlibrary loan), or order it online using the following link. Using 'notalgia paresthetica AND treatment' as your search term should locate 10 articles. Click here to view a search. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed
Question: What are the symptoms of Microtia-Anotia ?

Answer: What are the signs and symptoms of Microtia-Anotia? The Human Phenotype Ontology provides the following list of signs and symptoms for Microtia-Anotia. 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) Anotia - Holoprosencephaly - Microtia - 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.