umarjan11/Medical-qna huggingface dataset:
Question: What are the symptoms of Sonoda syndrome ?

Answer: What are the signs and symptoms of Sonoda syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Sonoda 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) Abnormal dermatoglyphics 90% Abnormality of the oral cavity 90% Anteverted nares 90% Depressed nasal ridge 90% Generalized hyperpigmentation 90% Hypopigmentation of hair 90% Narrow mouth 90% Round face 90% Short nose 90% Short stature 90% Displacement of the external urethral meatus 50% Autosomal recessive inheritance - Depressed nasal bridge - High axial triradius - Intellectual disability - Ventricular septal defect - 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 Hypermanganesemia with dystonia polycythemia and cirrhosis ?

Answer: What are the signs and symptoms of Hypermanganesemia with dystonia polycythemia and cirrhosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypermanganesemia with dystonia polycythemia and cirrhosis. 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) Sensorimotor neuropathy 5% Spastic paraparesis 5% Autosomal recessive inheritance - Bradykinesia - Cirrhosis - Decreased liver function - Dysarthria - Dystonia - Elevated hepatic transaminases - Hepatomegaly - Parkinsonism - Polycythemia - Postural instability - Rigidity - Tremor - Variable expressivity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question: What are the symptoms of Copper deficiency, familial benign ?

Answer: What are the signs and symptoms of Copper deficiency, familial benign? The Human Phenotype Ontology provides the following list of signs and symptoms for Copper deficiency, familial benign. 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) Acne 50% Deep philtrum 50% Muscular hypotonia 50% Seizures 50% Short stature 50% Wide nasal bridge 50% Abnormal hair quantity 7.5% Abnormality of the femur 7.5% Abnormality of the tibia 7.5% Anemia 7.5% Abnormality of the skeletal system - Curly hair - Early balding - Failure to thrive - Hypocupremia - Seborrheic dermatitis - 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 Spinocerebellar ataxia 23 ?

Answer: What are the signs and symptoms of Spinocerebellar ataxia 23? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 23. 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) Agenesis of corpus callosum 5% Tremor 5% Autosomal dominant inheritance - Babinski sign - Cerebellar atrophy - CNS demyelination - Dysarthria - Dysmetria - Gait ataxia - Hyperreflexia - Impaired vibration sensation in the lower limbs - Limb ataxia - Neuronal loss in central nervous system - Sensorimotor neuropathy - Slow progression - Slow saccadic eye movements - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question: how can botulism be prevented?

Answer: Many cases of botulism are preventable. Foodborne botulism has often been from home-canned foods with low acid content, such as asparagus, green beans, beets and corn and is caused by failure to follow proper canning methods. However, seemingly unlikely or unusual sources are found every decade, with the common problem of improper handling during manufacture, at retail, or by consumers; some examples are chopped garlic in oil, canned cheese sauce, chile peppers, tomatoes, carrot juice, and baked potatoes wrapped in foil. In Alaska, foodborne botulism is caused by fermented fish and other aquatic game foods. Persons who do home canning should follow strict hygienic procedures to reduce contamination of foods, and carefully follow instructions on safe home canning including the use of pressure canners/cookers as recommended through county extension services or from the US Department of Agriculture. Oils infused with garlic or herbs should be refrigerated. Potatoes which have been baked while wrapped in aluminum foil should be kept hot until served or refrigerated. Because the botulinum toxin is destroyed by high temperatures, persons who eat home-canned foods should consider boiling the food for 10 minutes before eating it to ensure safety. Wound botulism can be prevented by promptly seeking medical care for infected wounds and by not using injectable street drugs. Most infant botulism cases cannot be prevented because the bacteria that causes this disease is in soil and dust.  The bacteria can be found inside homes on floors, carpet, and countertops even after cleaning.  Honey can contain the bacteria that causes infant botulism so, children less than 12 months old should not be fed honey. Honey is safe for persons 1 year of age and older.
Question: What are the genetic changes related to celiac disease ?

Answer: The risk of developing celiac disease is increased by certain variants of the HLA-DQA1 and HLA-DQB1 genes. These genes provide instructions for making proteins that play a critical role in the immune system. The HLA-DQA1 and HLA-DQB1 genes belong to a family of genes called the human leukocyte antigen (HLA) complex. The HLA complex helps the immune system distinguish the body's own proteins from proteins made by foreign invaders such as viruses and bacteria.  The proteins produced from the HLA-DQA1 and HLA-DQB1 genes attach (bind) to each other to form a functional protein complex called an antigen-binding DQ heterodimer. This complex, which is present on the surface of certain immune system cells, attaches to protein fragments (peptides) outside the cell. If the immune system recognizes the peptides as foreign (such as viral or bacterial peptides), it triggers a response to attack the invading viruses or bacteria.  Celiac disease is associated with an inappropriate immune response to a segment of the gluten protein called gliadin. This inappropriate activation of the immune system causes inflammation that damages the body's organs and tissues and leads to the signs and symptoms of celiac disease.  Almost all people with celiac disease have specific variants of the HLA-DQA1 and HLA-DQB1 genes, which seem to increase the risk of an inappropriate immune response to gliadin. However, these variants are also found in 30 percent of the general population, and only 3 percent of individuals with the gene variants develop celiac disease.  It appears likely that other contributors, such as environmental factors and changes in other genes, also influence the development of this complex disorder.
Question: What are the genetic changes related to Tietz syndrome ?

Answer: Tietz syndrome is caused by mutations in the MITF gene. This gene provides instructions for making a protein that plays a role in the development, survival, and function of certain types of cells. Molecules of the MITF protein attach (bind) to each other or with other proteins that have a similar structure, creating a two-protein unit (dimer). The dimer attaches to specific areas of DNA and helps control the activity of particular genes. On the basis of this action, the MITF protein is called a transcription factor.  The MITF protein helps control the development and function of pigment-producing cells called melanocytes. Within these cells, this protein controls production of the pigment melanin, which contributes to hair, eye, and skin color. Melanocytes are also found in the inner ear and play an important role in hearing. Additionally, the MITF protein regulates the development of the retinal pigment epithelium.  MITF gene mutations that cause Tietz syndrome either delete or change a single protein building block (amino acid) in an area of the MITF protein known as the basic motif region. Dimers incorporating the abnormal MITF protein cannot be transported into the cell nucleus to bind with DNA. As a result, most of the dimers are unavailable to bind to DNA, which affects the development of melanocytes and the production of melanin. The resulting reduction or absence of melanocytes in the inner ear leads to hearing loss. Decreased melanin production (hypopigmentation) accounts for the light skin and hair color and the retinal pigment epithelium changes that are characteristic of Tietz syndrome.  Researchers suggest that Tietz syndrome may represent a severe form of a disorder called Waardenburg syndrome, which can also be caused by MITF gene mutations.
Question: What are the genetic changes related to GRN-related frontotemporal dementia ?

Answer: GRN-related frontotemporal dementia results from mutations in the GRN gene. This gene provides instructions for making a protein called granulin (also known as progranulin). Granulin is active in many different tissues in the body, where it helps control the growth, division, and survival of cells. Granulin's function in the brain is not well understood, although it appears to play an important role in the survival of nerve cells (neurons).  Most mutations in the GRN gene prevent any granulin from being produced from one copy of the gene in each cell. As a result, cells make only half the usual amount of granulin. It is unclear how a shortage of this protein leads to the features of GRN-related frontotemporal dementia. However, studies have shown that the disorder is characterized by the buildup of a protein called TAR DNA-binding protein (TDP-43) in certain brain cells. The TDP-43 protein forms clumps (aggregates) that may interfere with cell functions and ultimately lead to cell death. Researchers are working to determine how mutations in the GRN gene, and the resulting loss of granulin, are related to a buildup of TDP-43 in the brain.  The features of GRN-related frontotemporal dementia result from the gradual loss of neurons in regions near the front of the brain called the frontal and temporal lobes. The frontal lobes are involved in reasoning, planning, judgment, and problem-solving, while the temporal lobes help process hearing, speech, memory, and emotion. The death of neurons in these areas causes problems with many critical brain functions. However, it is unclear why the loss of neurons occurs in the frontal and temporal lobes more often than other brain regions in people with GRN-related frontotemporal dementia.
Question: How to diagnose Simple Kidney Cysts ?

Answer: Most simple kidney cysts are found during imaging tests done for other reasons. When a cyst is found, the following imaging tests can be used to determine whether it is a simple kidney cyst or another, more serious condition. These imaging tests are performed at an outpatient center or hospital by a specially trained technician, and the images are interpreted by a radiologista doctor who specializes in medical imaging. Ultrasound may also be performed in a health care providers office. Anesthesia is not needed though light sedation may be used for people with a fear of confined spaces who undergo magnetic resonance imaging (MRI).
                
- Ultrasound. Ultrasound uses a device, called a transducer, that bounces safe, painless sound waves off organs to create an image of their structure. An abdominal ultrasound can create images of the entire urinary tract. The images can be used to distinguish harmless cysts from other problems.  - Computerized tomography (CT) scan. CT scans use a combination of x rays and computer technology to create three-dimensional (3-D) images. A CT scan may include the injection of a special dye, called contrast medium. CT scans require the person to lie on a table that slides into a tunnel-shaped device where the x rays are taken. CT scans can show cysts and tumors in the kidneys.  - MRI. MRI machines use radio waves and magnets to produce detailed pictures of the bodys internal organs and soft tissues without using x rays. An MRI may include the injection of contrast medium. With most MRI machines, the person lies on a table that slides into a tunnel-shaped device that may be open ended or closed at one end; some newer machines are designed to allow the person to lie in a more open space. Like CT scans, MRIs can show cysts and tumors.
Question: What is (are) Acromegaly ?

Answer: Acromegaly is a hormonal disorder that results from too much growth hormone (GH) in the body. The pituitary, a small gland in the brain, makes GH. In acromegaly, the pituitary produces excessive amounts of GH. Usually the excess GH comes from benign, or noncancerous, tumors on the pituitary. These benign tumors are called adenomas.
                
Acromegaly is most often diagnosed in middle-aged adults, although symptoms can appear at any age. If not treated, acromegaly can result in serious illness and premature death. Acromegaly is treatable in most patients, but because of its slow and often "sneaky" onset, it often is not diagnosed early or correctly. The most serious health consequences of acromegaly are type 2 diabetes, high blood pressure, increased risk of cardiovascular disease, and arthritis. Patients with acromegaly are also at increased risk for colon polyps, which may develop into colon cancer if not removed.
                
When GH-producing tumors occur in childhood, the disease that results is called gigantism rather than acromegaly. A child's height is determined by the length of the so-called long bones in the legs. In response to GH, these bones grow in length at the growth platesareas near either end of the bone. Growth plates fuse after puberty, so the excessive GH production in adults does not result in increased height. However, prolonged exposure to excess GH before the growth plates fuse causes increased growth of the long bones and thus increased height. Pediatricians may become concerned about this possibility if a child's growth rate suddenly and markedly increases beyond what would be predicted by previous growth and how tall the child's parents are.
Question: What is (are) Prostate Cancer ?

Answer: How Tumors Form The body is made up of many types of cells. Normally, cells grow, divide, and produce more cells as needed to keep the body healthy and functioning properly. Sometimes, however, the process goes wrong -- cells become abnormal and form more cells in an uncontrolled way. These extra cells form a mass of tissue, called a growth or tumor. Tumors can be benign, which means not cancerous, or malignant, which means cancerous. How Prostate Cancer Occurs Prostate cancer occurs when a tumor forms in the tissue of the prostate, a gland in the male reproductive system. In its early stage, prostate cancer needs the male hormone testosterone to grow and survive. The prostate is about the size of a large walnut. It is located below the bladder and in front of the rectum. The prostate's main function is to make fluid for semen, a white substance that carries sperm. Prostate cancer is one of the most common types of cancer among American men. It is a slow-growing disease that mostly affects older men. In fact, more than 60 percent of all prostate cancers are found in men over the age of 65. The disease rarely occurs in men younger than 40 years of age. Prostate Cancer Can Spread Sometimes, cancer cells break away from a malignant tumor in the prostate and enter the bloodstream or the lymphatic system and travel to other organs in the body. When cancer spreads from its original location in the prostate to another part of the body such as the bone, it is called metastatic prostate cancer -- not bone cancer. Doctors sometimes call this distant disease. Surviving Prostate Cancer Today, more men are surviving prostate cancer than ever before. Treatment can be effective, especially when the cancer has not spread beyond the region of the prostate.
Question: What is (are) Colorectal Cancer ?

Answer: How Tumors Form The body is made up of many types of cells. Normally, cells grow, divide, and produce more cells as needed to keep the body healthy and functioning properly. Sometimes, however, the process goes wrong -- cells become abnormal and form more cells in an uncontrolled way. These extra cells form a mass of tissue, called a growth or tumor. Tumors can be benign, which means not cancerous, or malignant, which means cancerous. How Colorectal Cancer Develops Cancer of the colon or rectum is called colorectal cancer. The colon and the rectum are part of the large intestine, which is part of the digestive system. Colorectal cancer occurs when tumors form in the lining of the large intestine, also called the large bowel. Colorectal cancer accounts for almost ten percent of all cancer deaths in the United States. The risk of developing colorectal cancer rises after age 50. It is common in both men and women. Colorectal Cancer Can Spread Sometimes, cancer cells break away from the malignant tumor and enter the bloodstream or the lymphatic system where they travel to other organs in the body. Among other things, the lymphatic system transports white blood cells that fight infection. When cancer travels or spreads from its original location in the colon to another part of the body such as the liver, it is called metastatic colorectal cancer and not liver cancer. When colorectal cancer does spread, it tends to spread to the liver or lungs. Cure Rate for Early Detection Today there are more ways than ever to treat colorectal cancer. As with almost all cancers, the earlier it is found, the more likely that the treatment will be successful. If colon cancer is detected in its early stages, it is up to 90 percent curable.
Question: what research (or clinical trials) is being done for Anal Cancer ?

Answer: New types of treatment are being tested in clinical trials.
                    This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website.     Radiosensitizers     Radiosensitizers are drugs that make tumor cells more sensitive to radiation therapy. Combining radiation therapy with radiosensitizers may kill more tumor cells.
                
                
                    Patients may want to think about taking part in a clinical trial.
                    For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment.   Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment.   Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward.
                
                
                    Patients can enter clinical trials before, during, or after starting their cancer treatment.
                    Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment.   Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.