umarjan11/Medical-qna huggingface dataset:
Question: what research (or clinical trials) is being done for Problems with Taste ?

Answer: The National Institute on Deafness and Other Communication Disorders (NIDCD) supports basic and clinical investigations of smell and taste disorders at its laboratories in Bethesda, Md. and at universities and chemosensory research centers across the country. These chemosensory scientists are exploring how to - prevent the effects of aging on taste and smell   -  develop new diagnostic tests  -  understand associations between taste disorders and changes in diet and food preferences in the elderly or among people with chronic illnesses  - improve treatment methods and rehabilitation strategies.  prevent the effects of aging on taste and smell develop new diagnostic tests understand associations between taste disorders and changes in diet and food preferences in the elderly or among people with chronic illnesses improve treatment methods and rehabilitation strategies. Studies on Aging and Taste A recent NIDCD-funded study has shown that small variations in our genetic code can raise or lower our sensitivity to sweet tastes, which might influence a persons desire for sweets. Scientists have also made progress in understanding how our sense of taste changes as we age. Older adults often decide what to eat based on how much they like or dislike certain tastes. Scientists are looking at how and why this happens in order to develop more effective ways to help older people cope better with taste problems. Studies on Taste Receptors Some of the most recent chemosensory research focuses on identifying the key receptors expressed by our taste cells and understanding how those receptors send signals to the brain. Researchers are also working to develop a better understanding of how sweet and bitter substances attach to their targeted receptors. This research holds promise for the development of sugar or salt substitutes that could help combat obesity or hypertension, as well as the development of bitter blockers that could make life-saving medicines more acceptable to children. Taste cellsas well as sensory cells that help us smellare the only sensory cells in the human body that are regularly replaced throughout life. Researchers are exploring how and why this happens so that they might find ways to replace other damaged sensory cells. Gut and Sweet Receptors Scientists are gaining a better understanding of why the same receptor that helps our tongue detect sweet taste can also be found in the human gut. Recent research has shown that the sweet receptor helps the intestine to sense and absorb sugar and turn up the production of blood sugar-regulation hormones, including the hormone that regulates insulin release. Further research may help scientists develop drugs targeting the gut taste receptors to treat obesity and diabetes. Effects of Medications on Taste Scientists are also working to find out why some medications and medical procedures can have a harmful effect on our senses of taste and smell. They hope to develop treatments to help restore the sense of taste to people who have lost it.
Question: What causes Thrombotic Thrombocytopenic Purpura ?

Answer: A lack of activity in the ADAMTS13 enzyme (a type of protein in the blood) causes thrombotic thrombocytopenic purpura (TTP). The ADAMTS13 gene controls the enzyme, which is involved in blood clotting.
                
Not having enough enzyme activity causes overactive blood clotting. In TTP, blood clots form in small blood vessels throughout the body. These clots can limit or block the flow of oxygen-rich blood to the body's organs, such as the brain, kidneys, and heart. As a result, serious health problems can develop.
                
The increased clotting that occurs in TTP also uses up many of the blood's platelets. With fewer platelets available in the blood, bleeding problems can occur.
                
People who have TTP may bleed inside their bodies, underneath the skin, or from the surface of the skin. When cut or injured, they also may bleed longer than normal.
                
TTP also can cause red blood cells to break apart faster than the body can replace them. This leads to hemolytic anemia.
                
Inherited Thrombotic Thrombocytopenic Purpura
                
In inherited TTP, the ADAMTS13 gene is faulty. It doesn't prompt the body to make a normal ADAMTS13 enzyme. As a result, enzyme activity is lacking or changed.
                
"Inherited" means that the condition is passed from parents to children through genes. A person who inherits TTP is born with two copies of the faulty geneone from each parent.
                
Most often, the parents each have one copy of the faulty gene, but have no signs or symptoms TTP.
                
Acquired Thrombotic Thrombocytopenic Purpura
                
In acquired TTP, the ADAMTS13 gene isn't faulty. Instead, the body makes antibodies (proteins) that block the activity of the ADAMTS13 enzyme.
                
"Acquired" means you aren't born with the condition, but you develop it sometime after birth.
                
Triggers for Thrombotic Thrombocytopenic Purpura
                
It's unclear what triggers inherited and acquired TTP, but some factors may play a role. These factors may include:
                
Some diseases and conditions, such as pregnancy, cancer, HIV, lupus, and infections
                
Some medical procedures, such as surgery and blood and marrow stem cell transplant
                
Some medicines, such as chemotherapy, ticlopidine, clopidogrel, cyclosporine A, and hormone therapy and estrogens
                
Quinine, which is a substance often found in tonic water and nutritional health products
Question: What is (are) cytochrome P450 oxidoreductase deficiency ?

Answer: Cytochrome P450 oxidoreductase deficiency is a disorder of hormone production. This condition specifically affects steroid hormones, which are needed for normal development and reproduction. The hormonal changes associated with cytochrome P450 oxidoreductase deficiency can affect the development of the reproductive system, skeleton, and other parts of the body. These signs and symptoms are usually present at birth or become apparent in early childhood.  The signs and symptoms of cytochrome P450 oxidoreductase deficiency vary from mild to severe. Signs and symptoms of mild cases can include a failure to begin menstruation by age 16 (primary amenorrhea), an inability to have biological children (infertility) in both men and women, and a condition called polycystic ovarian syndrome (PCOS). PCOS is characterized by a hormonal imbalance in women that can lead to irregular menstruation, acne, excess body hair (hirsutism), and weight gain.  People with moderate cases of cytochrome P450 oxidoreductase deficiency may have external genitalia that do not look clearly male or female (ambiguous genitalia), and they may have infertility. People with moderate cytochrome P450 oxidoreductase deficiency usually do not have skeletal abnormalities.  The severe form of cytochrome P450 oxidoreductase deficiency is sometimes called Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis. Hormonal changes in affected males and females lead to the development of ambiguous genitalia or other genital abnormalities, as well as infertility. Severe cases are also characterized by skeletal abnormalities, particularly involving bones of the head and face. These include premature fusion of the skull bones (craniosynostosis), a flattened mid-face, a prominent forehead, and low-set ears. Other skeletal abnormalities can include joint deformities (contractures) that limit movement; unusually long, slender fingers (arachnodactyly); bowing of the thigh bones; and radiohumeral synostosis, which is a bone abnormality that locks the elbows in a bent position. A blockage of the nasal passages (choanal atresia), intellectual disability, and delayed development are also associated with the severe form of the disorder.  Some women who are pregnant with fetuses affected by cytochrome P450 oxidoreductase deficiency experience mild symptoms of the disorder even though they themselves do not have the disorder. They may develop excessive body hair growth (hirsutism), acne, and a deep voice. These changes go away soon after delivery.
Question: What to do for Polycystic Kidney Disease ?

Answer: - Polycystic kidney disease (PKD) is a genetic disorder that causes numerous cysts to grow in the kidneys.  - A gene mutation, or defect, causes polycystic kidney disease.  - Autosomal dominant PKD is the most common form of PKD and the most common inherited disorder of the kidneys.  - Health care providers identify most cases of autosomal dominant PKD between the ages of 30 and 50.  - The most common symptoms of PKD are pain in the back and sidesbetween the ribs and hipsand headaches. The pain can be temporary or persistent, mild or severe. Hematuriablood in the urinemay also be a sign of autosomal dominant PKD.  - The complications of autosomal dominant PKD include the following:      - pain    - high blood pressure    - kidney failure    - urinary tract infections (UTIs)    - kidney stones    - liver cysts    - pancreatic cysts    - abnormal heart valves    - diverticula    - brain aneurysms    - A health care provider diagnoses autosomal dominant PKD using imaging tests and genetic testing.  - A radiologista doctor who specializes in medical imagingwill interpret the images produced by the following imaging tests:      - ultrasound    - computerized tomography scans    - magnetic resonance imaging    - Genetic testing can show whether a persons cells carry a gene mutation that causes autosomal dominant PKD. A health care provider may also use genetic testing results to determine whether someone with a family history of PKD is likely to develop the disorder in the future. Prenatal testing can diagnose autosomal recessive PKD in unborn children.  - Although a cure for autosomal dominant PKD is not currently available, treatment can ease symptoms and prolong life.  - Autosomal recessive PKD is a rare genetic disorder that affects the liver as well as the kidneys.  - The complications of autosomal recessive PKD include the following:      - death due to breathing problems    - kidney failure    - liver scarring    - high blood pressure    - UTIs    - A health care provider diagnoses autosomal recessive PKD with ultrasound imaging, even in a fetus or newborn.  - Treatments for autosomal recessive PKD focus on the symptoms and complications.  - Scientists have not yet found a way to prevent PKD. However, people with PKD may slow the progression of kidney damage caused by high blood pressure through lifestyle changes, diet, and blood pressure medications.  - People with any kind of kidney disease, including PKD, should talk with a dietitian about foods they should add to their diet and foods that might be harmful.
Question: What are the symptoms of Epithelial basement membrane corneal dystrophy ?

Answer: What are the signs and symptoms of Epithelial basement membrane corneal dystrophy? A chronic problem seen in this condition is the epithelial erosions. They can alter the cornea's normal curvature, causing periodic blurred vision. These erosions may also expose the nerve endings that line the tissue, resulting in moderate to severe pain lasting as long as several days. Generally, the pain will be worse upon awakening in the morning. Other symptoms include sensitivity to light, excessive tearing, and foreign body sensation in the eye. This condition usually affects adults between the ages of 40 and 70, although it can develop earlier in life. It gets its name from the unusual appearance of the cornea during an eye exam. Most often, the affected epithelium will have a map-like appearance, i.e., large, slightly gray outlines that look like a continent on a map. There may also be clusters of opaque dots close to the map-like patches. Less frequently, the irregular basement membrane will form concentric lines in the central cornea that resemble small fingerprints. Epithelial basement membrane corneal dystrophy is not a progressive condition. Typically, it will flare up occasionally for a few years and then go away on its own, with no lasting loss of vision. Most people never know that they have this condition, since they do not have any pain or vision loss. The Human Phenotype Ontology provides the following list of signs and symptoms for Epithelial basement membrane corneal dystrophy. 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 - Corneal dystrophy - Map-dot-fingerprint corneal dystrophy - Recurrent corneal erosions - 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 genetic changes related to prion disease ?

Answer: Between 10 and 15 percent of all cases of prion disease are caused by mutations in the PRNP gene. Because they can run in families, these forms of prion disease are classified as familial. Familial prion diseases, which have overlapping signs and symptoms, include familial Creutzfeldt-Jakob disease (CJD), Gerstmann-Strussler-Scheinker syndrome (GSS), and fatal familial insomnia (FFI).  The PRNP gene provides instructions for making a protein called prion protein (PrP). Although the precise function of this protein is unknown, researchers have proposed roles in several important processes. These include the transport of copper into cells, protection of brain cells (neurons) from injury (neuroprotection), and communication between neurons. In familial forms of prion disease, PRNP gene mutations result in the production of an abnormally shaped protein, known as PrPSc, from one copy of the gene. In a process that is not fully understood, PrPSc can attach (bind) to the normal protein (PrPC) and promote its transformation into PrPSc. The abnormal protein builds up in the brain, forming clumps that damage or destroy neurons. The loss of these cells creates microscopic sponge-like holes (vacuoles) in the brain, which leads to the signs and symptoms of prion disease.  The other 85 to 90 percent of cases of prion disease are classified as either sporadic or acquired. People with sporadic prion disease have no family history of the disease and no identified mutation in the PRNP gene. Sporadic disease occurs when PrPC spontaneously, and for unknown reasons, is transformed into PrPSc. Sporadic forms of prion disease include sporadic Creutzfeldt-Jakob disease (sCJD), sporadic fatal insomnia (sFI), and variably protease-sensitive prionopathy (VPSPr).  Acquired prion disease results from exposure to PrPSc from an outside source. For example, variant Creutzfeldt-Jakob disease (vCJD) is a type of acquired prion disease in humans that results from eating beef products containing PrPSc from cattle with prion disease. In cows, this form of the disease is known as bovine spongiform encephalopathy (BSE) or, more commonly, "mad cow disease." Another example of an acquired human prion disease is kuru, which was identified in the South Fore population in Papua New Guinea. The disorder was transmitted when individuals ate affected human tissue during cannibalistic funeral rituals.  Rarely, prion disease can be transmitted by accidental exposure to PrPSc-contaminated tissues during a medical procedure. This type of prion disease, which accounts for 1 to 2 percent of all cases, is classified as iatrogenic.
Question: What is (are) CASK-related intellectual disability ?

Answer: CASK-related intellectual disability is a disorder of brain development that has two main forms: microcephaly with pontine and cerebellar hypoplasia (MICPCH), and X-linked intellectual disability (XL-ID) with or without nystagmus. Within each of these forms, males typically have more severe signs and symptoms than do females; the more severe MICPCH mostly affects females, likely because only a small number of males survive to birth.  People with MICPCH often have an unusually small head at birth, and the head does not grow at the same rate as the rest of the body, so it appears that the head is getting smaller as the body grows (progressive microcephaly). Individuals with this condition have underdevelopment (hypoplasia) of areas of the brain called the cerebellum and the pons. The cerebellum is the part of the brain that coordinates movement. The pons is located at the base of the brain in an area called the brainstem, where it transmits signals from the cerebellum to the rest of the brain.  Individuals with MICPCH have intellectual disability that is usually severe. They may have sleep disturbances and exhibit self-biting, hand flapping, or other abnormal repetitive behaviors. Seizures are also common in this form of the disorder.  People with MICPCH do not usually develop language skills, and most do not learn to walk. They have hearing loss caused by nerve problems in the inner ear (sensorineural hearing loss), and most also have abnormalities affecting the eyes. These abnormalities include underdevelopment of the nerves that carry information from the eyes to the brain (optic nerve hypoplasia), breakdown of the light-sensing tissue at the back of the eyes (retinopathy), and eyes that do not look in the same direction (strabismus). Characteristic facial features may include arched eyebrows; a short, broad nose; a lengthened area between the nose and mouth (philtrum); a protruding upper jaw (maxilla); a short chin; and large ears.  Individuals with MICPCH may have weak muscle tone (hypotonia) in the torso along with increased muscle tone (hypertonia) and stiffness (spasticity) in the limbs. Movement problems such as involuntary tensing of various muscles (dystonia) may also occur in this form of the disorder.  XL-ID with or without nystagmus (rapid, involuntary eye movements) is a milder form of CASK-related intellectual disability. The intellectual disability in this form of the disorder can range from mild to severe; some affected females have normal intelligence. About half of affected individuals have nystagmus. Seizures and rhythmic shaking (tremors) may also occur in this form.
Question: How to diagnose Acquired Cystic Kidney Disease ?

Answer: A health care provider may diagnose a person with acquired cystic kidney disease based on
                
- medical history  - imaging tests
                
Medical History
                
Taking a medical history may help a health care provider diagnose acquired cystic kidney disease. A health care provider may suspect acquired cystic kidney disease if a person who has been on dialysis for several years develops symptoms such as fever, back pain, or blood in the urine.
                
Imaging Tests
                
To confirm the diagnosis, the health care provider may order one or more imaging tests. A radiologista doctor who specializes in medical imaginginterprets the images from these tests, and the patient does not need anesthesia.
                
- Ultrasound uses a device, called a transducer, that bounces safe, painless sound waves off organs to create an image of their structure. A specially trained technician performs the procedure in a health care provider's office, an outpatient center, or a hospital. The images can show cysts in the kidneys as well as the kidneys' size and shape.  - Computerized tomography (CT) scans use a combination of x rays and computer technology to create images. For a CT scan, a nurse or technician may give the patient a solution to drink and an injection of a special dye, called contrast medium. CT scans require the patient to lie on a table that slides into a tunnel-shaped device where an x-ray technician takes the x-rays. An x-ray technician performs the procedure in an outpatient center or a hospital. CT scans can show cysts and tumors in the kidneys.  - Magnetic resonance imaging (MRI) is a test that takes pictures of the body's internal organs and soft tissues without using x-rays. A specially trained technician performs the procedure in an outpatient center or a hospital. Although the patient does not need anesthesia, a health care provider may give people with a fear of confined spaces light sedation, taken by mouth. An MRI may include the injection of contrast medium. With most MRI machines, the patient will lie on a table that slides into a tunnel-shaped device that may be open-ended or closed at one end. Some machines allow the patient to lie in a more open space. During an MRI, the patient, although usually awake, must remain perfectly still while the technician takes the images, which usually takes only a few minutes. The technician will take a sequence of images from different angles to create a detailed picture of the kidneys. During the test, the patient will hear loud mechanical knocking and humming noises from the machine.
                
Sometimes a health care provider may discover acquired cystic kidney disease during an imaging exam for another condition. Images of the kidneys may help the health care provider distinguish acquired cystic kidney disease from PKD.