umarjan11/Medical-qna huggingface dataset:
Question: How to diagnose Medullary Sponge Kidney ?

Answer: A health care provider diagnoses medullary sponge kidney based on
                
- a medical and family history  - a physical exam  - imaging studies
                
Medical and Family History
                
Taking a medical and family history can help diagnose medullary sponge kidney. A health care provider will suspect medullary sponge kidney when a person has repeated UTIs or kidney stones.
                
Physical Exam
                
No physical signs are usually present in a patient with medullary sponge kidney, except for blood in the urine. Health care providers usually confirm a diagnosis of medullary sponge kidney with imaging studies.
                
Imaging Studies
                
Imaging is the medical term for tests that use different methods to see bones, tissues, and organs inside the body. Health care providers commonly choose one or more of three imaging techniques to diagnose medullary sponge kidney:
                
- intravenous pyelogram  - computerized tomography (CT) scan  - ultrasound
                
A radiologista doctor who specializes in medical imaginginterprets the images from these studies, and patients do not need anesthesia.
                
Intravenous Pyelogram
                
In an intravenous pyelogram, a health care provider injects a special dye, called contrast medium, into a vein in the patients arm. The contrast medium travels through the body to the kidneys. The kidneys excrete the contrast medium into urine, which makes the urine visible on an x-ray. An x-ray technician performs this procedure at a health care providers office, an outpatient center, or a hospital. An intravenous pyelogram can show any blockage in the urinary tract, and the cysts show up as clusters of light.
                
Computerized Tomography Scans
                
Computerized tomography scans use a combination of x-rays and computer technology to create images. For a CT scan, a health care provider may give the patient a solution to drink and an injection of contrast medium. CT scans require the patient to lie on a table that slides into a tunnel-shaped device where the x-rays are taken. An x-ray technician performs the procedure in an outpatient center or a hospital. CT scans can show expanded or stretched tubules.
                
Ultrasound
                
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 providers office, an outpatient center, or a hospital. Ultrasound can show kidney stones and calcium deposits within the kidney.
Question: What are the symptoms of Microsomia hemifacial radial defects ?

Answer: What are the signs and symptoms of Microsomia hemifacial radial defects? The Human Phenotype Ontology provides the following list of signs and symptoms for Microsomia hemifacial radial defects. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia of the radius 90% Aplasia/Hypoplasia of the thumb 90% Facial asymmetry 90% Atresia of the external auditory canal 50% Cognitive impairment 50% Complete atrioventricular canal defect 50% Preauricular skin tag 50% Renal hypoplasia/aplasia 50% Sacrococcygeal pilonidal abnormality 50% Sensorineural hearing impairment 50% Short stature 50% Vertebral segmentation defect 50% Abnormality of the genital system 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Aplasia/Hypoplasia of the lungs 7.5% Cleft eyelid 7.5% Cleft palate 7.5% Conductive hearing impairment 7.5% Ectopic anus 7.5% Maternal diabetes 7.5% Non-midline cleft lip 7.5% Preaxial hand polydactyly 7.5% Triphalangeal thumb 7.5% Wide mouth 7.5% Autosomal dominant inheritance - Complete duplication of thumb phalanx - Microtia - Preauricular pit - Short mandibular rami - 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 Opitz G/BBB syndrome ?

Answer: What causes Opitz G/BBB syndrome? The X-linked form of Opitz G/BBB syndrome is caused by mutations in the MID1 gene. The MID1 gene provides instructions for making a specific protein called midline-1. This protein helps regulate the function of microtubules, which are rigid, hollow fibers that make up the cell's structural framework (the cytoskeleton). Microtubules help cells maintain their shape, assist in the process of cell division, and are essential for the movement of cells (cell migration). The MID1 gene is a member of a group of genes called the TRIM (tripartite motif) family. The proteins produced from this large family of genes are involved in many cellular activities. Primarily, TRIM proteins play a role in the cell machinery that breaks down (degrades) unwanted proteins. As part of its protein degrading function, midline-1 is responsible for recycling certain proteins, including phosphatase 2A (PP2A), integrin alpha-4 (ITGA4), and serine/threonine-protein kinase 36 (STK36). The recycling of these three proteins so they can be reused instead of broken down is essential because they are needed for normal cellular functioning. Mutations in the MID1 gene lead to a decrease in midline-1 function, which prevents this protein recycling. As a result, certain proteins are not recycled, and they accumulate in cells. This buildup impairs microtubule function, resulting in problems with cell division and migration. Researchers speculate that the altered midline-1 protein affects how the cells divide and migrate along the midline of the body during development, resulting in the features of Opitz G/BBB syndrome. Some people who have a family history of X-linked Opitz G/BBB syndrome have no detectable MID1 mutation. The reason for this is not yet known, although some researchers have suggested the involvement of other unknown genes. The autosomal dominant form of Opitz G/BBB syndrome is caused by a deletion of a small piece of chromosome 22, specifically 22q11.2, which is why researchers consider this condition to be part of 22q11.2 deletion syndrome. It is not yet known which deleted gene(s) within this region of chromosome 22 specifically cause the signs and symptoms of Opitz G/BBB syndrome. In others with autosomal dominant Opitz G/BBB syndrome, the cause is related to a mutation in the SPECCIL gene. Click on the gene name to learn more about its role in the development of this condition.
Question: What are the symptoms of Passos-Bueno syndrome ?

Answer: What are the signs and symptoms of Passos-Bueno syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Passos-Bueno syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the macula 90% Encephalocele 90% Myopia 90% Retinal detachment 90% Skull defect 90% Abnormality of the vitreous humor 50% Hydrocephalus 50% Nystagmus 50% Visual impairment 50% Cataract 7.5% Depressed nasal bridge 7.5% Ectopia lentis 7.5% Epicanthus 7.5% Joint hypermobility 7.5% Lymphangioma 7.5% Malar flattening 7.5% Patent ductus arteriosus 7.5% Pyloric stenosis 7.5% Seizures 7.5% Situs inversus totalis 7.5% Strabismus 7.5% Vesicoureteral reflux 7.5% Mental deterioration 5% Ataxia - Autosomal recessive inheritance - Band keratopathy - Cerebellar atrophy - Cerebral atrophy - Congenital cataract - Macular hypoplasia - Occipital encephalocele - Phenotypic variability - Phthisis bulbi - Polymicrogyria - Severe Myopia - Ventriculomegaly - Visual loss - Vitreoretinal degeneration - 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 hereditary cerebral amyloid angiopathy ?

Answer: Mutations in the APP gene are the most common cause of hereditary cerebral amyloid angiopathy. APP gene mutations cause the Dutch, Italian, Arctic, Iowa, Flemish, and Piedmont types of this condition. Mutations in the CST3 gene cause the Icelandic type. Familial British and Danish dementia are caused by mutations in the ITM2B gene.  The APP gene provides instructions for making a protein called amyloid precursor protein. This protein is found in many tissues and organs, including the brain and spinal cord (central nervous system). The precise function of this protein is unknown, but researchers speculate that it may attach (bind) to other proteins on the surface of cells or help cells attach to one another. In the brain, the amyloid precursor protein plays a role in the development and maintenance of nerve cells (neurons).  The CST3 gene provides instructions for making a protein called cystatin C. This protein inhibits the activity of enzymes called cathepsins that cut apart other proteins in order to break them down. Cystatin C is found in biological fluids, such as blood. Its levels are especially high in the fluid that surrounds and protects the brain and spinal cord (the cerebrospinal fluid or CSF).  The ITM2B gene provides instructions for producing a protein that is found in all tissues. The function of the ITM2B protein is unclear. It is thought to play a role in triggering the self-destruction of cells (apoptosis) and keeping cells from growing and dividing too fast or in an uncontrolled way. Additionally, the ITM2B protein may be involved in processing the amyloid precursor protein.  Mutations in the APP, CST3, or ITM2B gene lead to the production of proteins that are less stable than normal and that tend to cluster together (aggregate). These aggregated proteins form protein clumps called amyloid deposits that accumulate in certain areas of the brain and in its blood vessels. The amyloid deposits, known as plaques, damage brain cells, eventually causing cell death and impairing various parts of the brain. Brain cell loss in people with hereditary cerebral amyloid angiopathy can lead to seizures, movement abnormalities, and other neurological problems. In blood vessels, amyloid plaques replace the muscle fibers and elastic fibers that give the blood vessels flexibility, causing them to become weak and prone to breakage. A break in a blood vessel in the brain causes bleeding in the brain (hemorrhagic stroke), which can lead to brain damage and dementia.
Question: What are the symptoms of Depression ?

Answer: Common Symptoms There are many symptoms associated with depression, and some will vary depending on the individual. However, some of the most common symptoms are listed below. If you have several of these symptoms for more than two weeks, you may have depression. - feeling nervous or emotionally "empty"  - feelings of excessive guilt or worthlessness  - tiredness or a "slowed down" feeling  - restlessness and irritability  - feeling like life is not worth living  - sleep problems, including trouble getting to sleep, wakefulness in the middle of the night, or sleeping too much  - eating more or less than usual, usually with unplanned weight gain or loss  - having persistent headaches, stomach-aches or other chronic pain that does not go away when treated  - loss of interest in once pleasurable activities, including sex  - frequent crying  - difficulty focusing, remembering or making decisions  - thoughts of death or suicide, or a suicide attempt feeling nervous or emotionally "empty" feelings of excessive guilt or worthlessness tiredness or a "slowed down" feeling restlessness and irritability feeling like life is not worth living sleep problems, including trouble getting to sleep, wakefulness in the middle of the night, or sleeping too much eating more or less than usual, usually with unplanned weight gain or loss having persistent headaches, stomach-aches or other chronic pain that does not go away when treated loss of interest in once pleasurable activities, including sex frequent crying difficulty focusing, remembering or making decisions thoughts of death or suicide, or a suicide attempt Is it Depression or Something Else? The first step to getting appropriate treatment is to visit a doctor. Certain medications taken for other medical conditions, vitamin B12 deficiency, some viruses, or a thyroid disorder can cause symptoms similar to depression. If an older adult is taking several medications for other conditions and is depressed, seeing a doctor is especially important. A doctor can rule out medications or another medical condition as the cause of the depression by doing a complete physical exam, interview, and lab tests. If these other factors can be ruled out, he or she may refer you to a mental health professional, such as a psychologist, counselor, social worker, or psychiatrist. Some doctors called geriatric psychiatrists and clinical geropsychologists are specially trained to treat depression and other mental illnesses in older adults. The doctor or mental health professional will ask about the history of your symptoms, such as when they started, how long they have lasted, their severity, whether they have occurred before, and if so, whether they were treated and how. He or she will then diagnose the depression and work with you to choose the most appropriate treatment.
Question: what research (or clinical trials) is being done for Leukemia ?

Answer: Researchers are conducting clinical trials in many parts of the country. Clinical trials test an intervention such as a drug, therapy, medical device, or behavior in many people to see if it is safe and effective. Clinical trials already have led to advances, and researchers continue to search for more effective ways to treat and diagnose leukemia. They are studying various drugs, immunotherapy, targeted therapies, and other types of treatments. They are also studying the effectiveness of using combinations of treatments. Most importantly, researchers are gaining a greater understanding of the genes that are mutated in many types of leukemia and are developing targeted treatments to directly attack the mutations. One prime example is in acute myeloid leukemia (AML) where researchers have identified several genes that predict better or worse outcomes and are working to develop drugs targeted at these genes. Drug Research The drug imatinib (Gleevec) is important in the treatment of chronic myeloid leukemia. Imatinib targets an abnormal protein that is present in most leukemia cells. By blocking the abnormal protein, imatinib kills the leukemia cells, but it does not kill normal cells. However, imatinib stops working in some people with leukemia because the cells become resistant. Fortunately, two drugs, dasatinib (Sprycel) and nilotinib (Tasigna), are now used to treat people who stop responding to imatinib. These drugs work against the same abnormal protein targeted by imatinib, but in different ways. Immunotherapy Immunotherapy is a treatment that uses immune cells or antibodies to fight leukemia or stop it from getting worse. The idea is to zero in on leukemia cells so the treatment is less toxic to normal cells. Recently developed immunotherapies are showing real promise in a number of forms of leukemia. Vaccine Research Leukemia vaccines are not vaccines in the way that most people think of them. Unlike most vaccines, which help prevent diseases, leukemia vaccines are used to treat someone who already has cancer. A vaccine introduces a molecule called an antigen into the body. The immune system recognizes the antigen as a foreign invader and attacks it. Gene Therapy Gene therapy -- replacing, manipulating, or supplementing nonfunctional genes with healthy genes -- is being explored for treatment of leukemia. It is being studied as a way to stimulate a patient's immune system to kill leukemia cells and also to interfere with the production of proteins that cause cells to become cancerous. Learn more about ongoing leukemia research.
Question: What are the symptoms of Popliteal pterygium syndrome ?

Answer: What are the signs and symptoms of Popliteal pterygium syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Popliteal pterygium syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cleft palate 90% Hypertrichosis 90% Limitation of joint mobility 90% Thin vermilion border 90% Toe syndactyly 90% Abnormality of female external genitalia 50% Abnormality of the palpebral fissures 50% Abnormality of the ribs 50% Abnormality of the toenails 50% Bifid scrotum 50% Cryptorchidism 50% Finger syndactyly 50% Lip pit 50% Non-midline cleft lip 50% Popliteal pterygium 50% Scoliosis 50% Scrotal hypoplasia 50% Talipes 50% Choanal atresia 7.5% Cognitive impairment 7.5% Split hand 7.5% Ankyloblepharon - Autosomal dominant inheritance - Cleft upper lip - Cutaneous finger syndactyly - Dementia - Fibrous syngnathia - Hypoplasia of the uterus - Hypoplasia of the vagina - Hypoplastic labia majora - Intercrural pterygium - Lower lip pit - Pyramidal skinfold extending from the base to the top of the nails - Spina bifida occulta - Talipes equinovarus - 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 Multiple familial trichoepithelioma ?

Answer: What are the signs and symptoms of Multiple familial trichoepithelioma? People with multiple familial trichoepithelioma typically develop large large numbers of smooth, round, firm skin-colored tumors called trichoepitheliomas, which arise from hair follicles. These benign (noncancerous) tumors may occasionally transform into a type of skin cancer called basal cell carcinoma. Occasionally, other types of tumors, including growths called spiradenomas (which originate in sweat glands) and cylindromas (which likely originate in hair follicles) also develop. Affected individuals are also at-risk to develop tumors in other tissues, particularly benign tumors of the salivary glands. The tumors in multiple familial trichoepithelioma typically first appear during childhood or adolescence, and appear most often around the nose, forehead, upper lip, and occasionally scalp, neck, and upper trunk. They may grow larger and increase in number over time. In rare cases, the tumors may get in the way of the eyes, ears, nose, or mouth and affect vision or hearing. The growths can be disfiguring and may contribute to depression or other psychological problems. For reasons that remain unknown, females are often more severely affected than males.  The Human Phenotype Ontology provides the following list of signs and symptoms for Multiple familial trichoepithelioma. 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) Neoplasm of the skin 90% Telangiectasia of the skin 50% Basal cell carcinoma 5% Adult onset - Autosomal dominant inheritance - 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.