umarjan11/Medical-qna huggingface dataset:
Question: What are the genetic changes related to Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis ?

Answer: NFJS/DPR results from mutations in the KRT14 gene. This gene provides instructions for making a protein called keratin 14. Keratins are tough, fibrous proteins that provide strength and resiliency to the outer layer of the skin (the epidermis). Researchers believe that keratin 14 may also play a role in the formation of sweat glands and the development of dermatoglyphs.  The KRT14 gene mutations that cause NFJS/DPR most likely reduce the amount of functional keratin 14 that is produced in cells. A shortage of this protein makes cells in the epidermis more likely to self-destruct (undergo apoptosis). The resulting loss of these cells alters the normal development and structure of ectodermal tissues, which likely underlies most of the skin and nail problems characteristic of NFJS/DPR. However, it is unclear how a shortage of keratin 14 is related to changes in skin pigmentation.
Question: What is (are) Wilson Disease ?

Answer: The liver is the bodys largest internal organ. The liver is called the bodys metabolic factory because of the important role it plays in metabolismthe way cells change food into energy after food is digested and absorbed into the blood. The liver has many important functions, including
                
- taking up, storing, and processing nutrients from foodincluding fat, sugar, and proteinand delivering them to the rest of the body when needed.  - making new proteins, such as clotting factors and immune factors.  - producing bile. In addition to carrying toxins and waste products out of the body, bile helps the body digest fats and the fat-soluble vitamins A, D, E, and K.  - removing waste products the kidneys cannot remove, such as fats, cholesterol, toxins, and medications.
                
A healthy liver is necessary for survival. The liver can regenerate most of its own cells when they become damaged. However, if injury to the liver is too severe or long lasting, regeneration is incomplete and the liver creates scar tissue.
Question: What to do for Acromegaly ?

Answer: - Acromegaly is a hormonal disorder that results from too much growth hormone (GH) in the body.  - In most people with acromegaly, a benign tumor of the pituitary gland produces excess GH.  - Common features of acromegaly include abnormal growth of the hands and feet; bone growth in the face that leads to a protruding lower jaw and brow and an enlarged nasal bone; joint aches; thick, coarse, oily skin; and enlarged lips, nose, and tongue.  - Acromegaly can cause sleep apnea, fatigue and weakness, headaches, impaired vision, menstrual abnormalities in women, and erectile dysfunction in men.  - Acromegaly is diagnosed through a blood test. Magnetic resonance imaging (MRI) of the pituitary is then used to locate and detect the size of the tumor causing GH overproduction.  - The first line of treatment is usually surgical removal of the tumor. Medication or radiation may be used instead of or in addition to surgery.
Question: What are the symptoms of Gastroparesis ?

Answer: The most common symptoms of gastroparesis are nausea, a feeling of fullness after eating only a small amount of food, and vomiting undigested foodsometimes several hours after a meal. Other symptoms of gastroparesis include
                
- gastroesophageal reflux (GER), also called acid reflux or acid regurgitationa condition in which stomach contents flow back up into the esophagus, the organ that connects the mouth to the stomach  - pain in the stomach area  - abdominal bloating  - lack of appetite
                
Symptoms may be aggravated by eating greasy or rich foods, large quantities of foods with fibersuch as raw fruits and vegetablesor drinking beverages high in fat or carbonation. Symptoms may be mild or severe, and they can occur frequently in some people and less often in others. The symptoms of gastroparesis may also vary in intensity over time in the same individual. Sometimes gastroparesis is difficult to diagnose because people experience a range of symptoms similar to those of other diseases.
Question: What causes Anemia in Chronic Kidney Disease ?

Answer: When kidneys are diseased or damaged, they do not make enough EPO. As a result, the bone marrow makes fewer red blood cells, causing anemia. When blood has fewer red blood cells, it deprives the body of the oxygen it needs.
                
Other common causes of anemia in people with kidney disease include blood loss from hemodialysis and low levels of the following nutrients found in food:
                
- iron  - vitamin B12  - folic acid
                
These nutrients are necessary for red blood cells to make hemoglobin, the main oxygen-carrying protein in the red blood cells.
                
If treatments for kidney-related anemia do not help, the health care provider will look for other causes of anemia, including
                
- other problems with bone marrow  - inflammatory problemssuch as arthritis, lupus, or inflammatory bowel diseasein which the bodys immune system attacks the bodys own cells and organs  - chronic infections such as diabetic ulcers  - malnutrition
Question: What is (are) Problems with Taste ?

Answer: You can help your doctor make a diagnosis by writing down important information about your problem beforehand and giving the information to your doctor during your visit. Write down answers to the following questions. - When did I first become aware of my taste problem?   - What changes in my sense of taste did I notice?  -  Do all foods and drinks taste the same?   - Have there been any changes in my sense of smell?   - Does the change in taste affect my ability to eat normally?   - What medicines do I take? What are the names of the medicines? How much do I take? What is the health condition for which I take the medicine?   - Have I recently had a cold or the flu?  When did I first become aware of my taste problem? What changes in my sense of taste did I notice? Do all foods and drinks taste the same? Have there been any changes in my sense of smell? Does the change in taste affect my ability to eat normally? What medicines do I take? What are the names of the medicines? How much do I take? What is the health condition for which I take the medicine? Have I recently had a cold or the flu?
Question: What is the outlook for Oropharyngeal Cancer ?

Answer: Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) depends on the following:          -  Whether the patient has HPV infection of the oropharynx.    - Whether the patient has a history of smoking cigarettes for ten or more pack years.     -  The stage of the cancer.    -  The number and size of lymph nodes with cancer.        Oropharyngeal tumors related to HPV infection have a better prognosis and are less likely to recur than tumors not linked to HPV infection.   Treatment options depend on the following:         - The stage of the cancer.    - Keeping the patient's ability to speak and swallow as normal as possible.    - The patient's general health.        Patients with oropharyngeal cancer have an increased risk of another cancer in the head or neck. This risk is increased in patients who continue to smoke or drink alcohol after treatment.   See the PDQ summary Cigarette Smoking: Health Risks and How to Quit for more information.
Question: Do you have information about Blood Count Tests

Answer: Summary : Your blood contains red blood cells (RBC), white blood cells (WBC), and platelets. Blood count tests measure the number and types of cells in your blood. This helps doctors check on your overall health. The tests can also help to diagnose diseases and conditions such as anemia, infections, clotting problems, blood cancers, and immune system disorders.    Specific types include tests for       - RBC - the numbers, size, and types of RBC in the blood    - WBC - the numbers and types of WBC in the blood    - Platelets - the numbers and size of the platelets    - Hemoglobin - an iron-rich protein in red blood cells that carries oxygen    - Hematocrit - how much space red blood cells take up in your blood    - Reticulocyte count - how many young red blood cells are in your blood    - Mean corpuscular volume (MCV) - the average size of your red blood cells       The complete blood count (CBC) includes most or all of these. The CBC is one of the most common blood tests.    NIH: National Heart, Lung, and Blood Institute
Question: What is (are) Acoustic Neuroma ?

Answer: An acoustic neuroma is a benign tumor that develops on the nerve that connects the ear to the brain. The tumor usually grows slowly. As it grows, it presses against the hearing and balance nerves. At first, you may have no symptoms or mild symptoms. They can include       -  Loss of hearing on one side     -  Ringing in ears    -  Dizziness and balance problems       The tumor can also eventually cause numbness or paralysis of the face. If it grows large enough, it can press against the brain, becoming life-threatening.    Acoustic neuroma can be difficult to diagnose, because the symptoms are similar to those of middle ear problems. Ear exams, hearing tests, and scans can show if you have it.    If the tumor stays small, you may only need to have it checked regularly. If you do need treatment, surgery and radiation are options.    If the tumors affect both hearing nerves, it is often because of a genetic disorder called neurofibromatosis.    NIH: National Institute on Deafness and Communication Disorders
Question: What is (are) Urinary Incontinence ?

Answer: Urinary incontinence (UI) is loss of bladder control. Symptoms can range from mild leaking to uncontrollable wetting. It can happen to anyone, but it becomes more common with age. Women experience UI twice as often as men.    Most bladder control problems happen when muscles are too weak or too active. If the muscles that keep your bladder closed are weak, you may have accidents when you sneeze, laugh or lift a heavy object. This is stress incontinence. If bladder muscles become too active, you may feel a strong urge to go to the bathroom when you have little urine in your bladder. This is urge incontinence or overactive bladder. There are other causes of incontinence, such as prostate problems and nerve damage.    Treatment depends on the type of problem you have and what best fits your lifestyle. It may include simple exercises, medicines, special devices or procedures prescribed by your doctor, or surgery.     NIH: National Institute of Diabetes and Digestive and Kidney Diseases
Question: What is (are) Ear Disorders ?

Answer: Your ear has three main parts: outer, middle and inner. You use all of them in hearing. Sound waves come in through your outer ear. They reach your middle ear, where they make your eardrum vibrate. The vibrations are transmitted through three tiny bones, called ossicles, in your middle ear. The vibrations travel to your inner ear, a snail-shaped organ. The inner ear makes the nerve impulses that are sent to the brain. Your brain recognizes them as sounds. The inner ear also controls balance.    A variety of conditions may affect your hearing or balance:       - Ear infections are the most common illness in infants and young children.    - Tinnitus, a roaring in your ears, can be the result of loud noises, medicines or a variety of other causes.    - Meniere's disease may be the result of fluid problems in your inner ear; its symptoms include tinnitus and dizziness.    - Ear barotrauma is an injury to your ear because of changes in barometric (air) or water pressure.       Some ear disorders can result in hearing disorders and deafness.
Question: What causes Cleidocranial dysplasia ?

Answer: What causes cleidocranial dysplasia? Cleidocranial dysplasia is caused by mutations in the RUNX2 (CBFA1) gene. The RUNX2 gene provides instructions for making a protein that is involved in bone and cartilage development and maintenance. Researchers believe that the RUNX2 protein acts as a "master switch," regulating a number of other genes involved in the development of cells that build bones (osteoblasts). Some mutations change one protein building block (amino acid) in the RUNX2 protein. Other mutations result in an abnormally short protein. This shortage of functional RUNX2 protein interferes with normal bone and cartilage development, resulting in the signs and symptoms of cleidocranial dysplasia. In rare cases, affected individuals may experience additional, unusual symptoms resulting from the loss of other genes located near RUNX2. In about one-third of individuals with cleidocranial dysplasia, no mutation in the RUNX2 gene has been found. The cause of the condition in these individuals is unknown. Read more about the RUNX2 gene.
Question: What is (are) Melioidosis ?

Answer: Melioidosis is an infectious disease caused by the bacteria Burkholderia pseudomallei that are commonly found in the soil and water. Melioidosis is a rare disease in the United States, but it is common in tropical or subtropical areas of the world, including Southeast Asia, Africa, and Australia. The signs and symptoms of the disease can vary greatly and may mimic those of tuberculosis or common forms of pneumonia. Signs and symptoms may include pain or swelling, fever, abscess, cough, high fever, headache, trouble breathing, and more. Although healthy people can also experience signs and symptoms of the disease, people with certain conditions like diabetes, liver disease, kidney disease, lung disease, thalassemia, cancer, or certain autoimmune diseases are more severely affected. Diagnosis is made by collecting blood, sputum, urine, or pus samples and growing the bacteria. Current treatment is divided into two stages: an intravenous (IV) antibiotic stage and oral antibiotic maintenance stage to prevent recurrence.
Question: What is (are) Biotin-thiamine-responsive basal ganglia disease ?

Answer: Biotin-thiamine-responsive basal ganglia disease is a rare condition that affects the brain and other parts of the nervous system. The severity of the condition and the associated signs and symptoms vary from person to person, even within the same family. Without early diagnosis and treatment, most affected people develop features of the condition between ages 3 and 10 years. Signs and symptoms may include recurrent episodes of confusion, seizures, ataxia (problems coordinating movements), dystonia, facial palsy (weakness of the facial muscles), external ophthalmoplegia (paralysis of the muscles surrounding the eye), and dysphagia. Eventually, these episodes can lead to coma or even death. Biotin-thiamine-responsive basal ganglia disease is caused by changes (mutations) in the SLC19A3 gene and is inherited in an autosomal recessive manner. As its name suggests, early and lifelong treatment with the vitamins biotin and thiamine may improve the symptoms.
Question: What is (are) Mevalonic aciduria ?

Answer: Mevalonic aciduria is the severe form of mevalonate kinase deficiency, a condition characterized by recurrent episodes of fever that typically begin during infancy. During these fever episodes, people with mevalonic aciduria may have an enlarged liver and spleen (hepatosplenomegaly), lymphadenopathy, abdominal pain, diarrhea, joint pain (arthralgia), and skin rashes. Additional ongoing issues include developmental delay, progressive ataxia, progressive problems with vision, an unusually small, elongated head, and failure to thrive. Mevalonic aciduria is caused by deficiency of mevalonate kinase, the first committed enzyme of cholesterol biosynthesis. This deficiency occurs as a result of inherited mutations in the MVK gene. This condition is inherited in an autosomal recessive pattern. Treatment is challenging and remains mainly supportive. The less severe type of mevalonate kinase deficiency is called hyperimmunoglobulinemia D syndrome (HIDS).
Question: What is (are) Arginase deficiency ?

Answer: Arginase deficiency is an inherited metabolic condition in which the body is unable to process the amino acid (a building block of protein), arginine. Consequently, people affected by the condition have high levels of arginine in the blood and may also experience episodes of hyperammonemia (an accumulation of ammonia in the blood). Although most affected people appear healthy at birth, features of arginase deficiency generally develop between ages one and three years. Signs and symptoms may include growth deficiency, spasticity (abnormal tensing of the muscles), developmental delay, loss of developmental milestones, intellectual disability, seizures, and microcephaly. Arginase deficiency is caused by changes (mutations) in the ARG1 gene and is inherited in an autosomal recessive manner. Management is generally focused on lowering arginine levels and preventing hyperammonemia. This may be accomplished through restriction of dietary protein and use of certain medications (called nitrogen-scavenging drugs) under the supervision of a medical team with experience treating metabolic conditions.
Question: What is (are) Kyrle disease ?

Answer: Kyrle disease is a skin disease characterized by the formation of large papules and is often associated with underlying hepatic, renal or diabetic disorders. It can affect both men and women throughout life, although the average age of onset is 30 years. Lesions typically begin as small papules with silvery scales that eventually grow and form red-brown nodules with a central keratin (horny) plug. The lesions occur mostly on the legs but also develop on the arms and the head and neck region. They are not typically painful may cause intense itching (pruritus). The cause of the disease is unknown; some cases appear to be idiopathic (no known cause) or inherited. The aim of treatment is to treat the underlying disease if one is associated. Lesions may self-heal without any treatment, but new lesions usually develop. Treatments that have been used to treat and reduce lesions include isotretinoin, high dose vitamin A, and tretinoin cream; emollients (skin softening agents) and oral antihistamines may be useful in relieving pruritus.
Question: What causes Parkinson disease ?

Answer: What causes Parkinson disease? Parkinson disease occurs when the nerve cells in the brain that make dopamine, a chemical messenger which transmits signals within the brain to produce smooth physical movements, are slowly destroyed. Without dopamine, the nerve cells in the part of the brain known as the substantia nigra cannot properly send messages. This leads to progressive loss of muscle function. Exactly why these brain cells waste away is unknown. Recent studies have shown that people with Parkinson disease also experience damage to the nerve endings that produce the neurotransmitter norepinephrine. Norepinephrine, which is closely related to dopamine, is the main chemical messenger of the sympathetic nervous system, the part of the nervous system that controls the automatic functions of the body, including pulse and blood pressure. The loss of norepinephrine may explain some of the non-motor features seen in Parkinson disease, including fatigue and problems with blood pressure regulation.  More detailed information about the cause of Parkinson disease is available through an information page developed by the National Institute of Neurological Disorders and Stroke (NINDS). Click here to view this information.
Question: What is (are) Congenital hypothyroidism ?

Answer: Congenital hypothyroidism is a condition that affects infants from birth and results from a partial or complete loss of thyroid function (hypothyroidism). The thyroid gland makes hormones that play an important role in regulating growth, brain development, and metabolism in the body. Congenital hypothyroidism occurs when the thyroid gland fails to develop or function properly. In the United States and many other countries, all newborns are tested for congenital hypothyroidism as part of newborn screening. If untreated, congenital hypothyroidism can lead to intellectual disability and abnormal growth. If treatment begins in the first month after birth, infants usually develop normally. Treatment involves medication to replace the missing thyroid hormones, such as levothyroxine. Most cases of congenital hypothyroidism occur in people with no history of the disorder in their family. About 15-20% of cases are due to an underlying gene mutation. Rarely, congenital hypothyroidism can be a symptom included in a larger genetic disorder called a syndrome.
Question: How to diagnose Parasites - Fascioliasis (Fasciola Infection) ?

Answer: The standard way to be sure a person is infected with Fasciola is by seeing the parasite. This is usually done by finding Fasciola eggs in stool (fecal) specimens examined under a microscope. More than one specimen may need to be examined to find the parasite. Sometimes eggs are found by examining duodenal contents or bile.
    
Infected people don't start passing eggs until they have been infected for several months; people don't pass eggs during the acute phase of the infection. Therefore, early on, the infection has to be diagnosed in other ways than by examining stool. Even during the chronic phase of infection, it can be difficult to find eggs in stool specimens from people who have light infections.
    
Certain types of blood tests can be helpful for diagnosing Fasciola infection, including routine blood work and tests that detect antibodies (an immune response) to the parasite.
    
More on: Resources for Health Professionals: Diagnosis
Question: How to prevent Thrombocytopenia ?

Answer: Whether you can prevent thrombocytopenia depends on its specific cause. Usually the condition can't be prevented. However, you can take steps to prevent health problems associated with thrombocytopenia. For example:
                
Avoid heavy drinking. Alcohol slows the production of platelets.
                
Try to avoid contact with toxic chemicals. Chemicals such as pesticides, arsenic, and benzene can slow the production of platelets.
                
Avoid medicines that you know have decreased your platelet count in the past.
                
Be aware of medicines that may affect your platelets and raise your risk of bleeding. Two examples of such medicines are aspirin and ibuprofen. These medicines may thin your blood too much.
                
Talk with your doctor about getting vaccinated for viruses that can affect your platelets. You may need vaccines for mumps, measles, rubella, and chickenpox. You may want to have your child vaccinated for these viruses as well. Talk with your child's doctor about these vaccines.
Question: Who is at risk for Sleep Apnea? ?

Answer: Obstructive sleep apnea is a common condition. About half of the people who have this condition are overweight.
                
Men are more likely than women to have sleep apnea. Although the condition can occur at any age, the risk increases as you get older. A family history of sleep apnea also increases your risk for the condition.
                
People who have small airways in their noses, throats, or mouths are more likely to have sleep apnea. Small airways might be due to the shape of these structures or allergies or other conditions that cause congestion.
                
Small children might have enlarged tonsil tissues in their throats. Enlarged tonsil tissues raise a childs risk for sleep apnea. Overweight children also might be at increased risk for sleep apnea.
                
About half of the people who have sleep apnea also have high blood pressure. Sleep apnea also is linked to smoking, metabolic syndrome, diabetes, and risk factors for stroke and heart failure.
                
Race and ethnicity might play a role in the risk of developing sleep apnea. However, more research is needed.