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

Answer: What are the signs and symptoms of Roifman syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Roifman 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 cardiovascular system - Abnormality of the nasopharynx - Anteverted nares - Asthma - Blepharophimosis - Brachydactyly syndrome - Broad femoral head - Broad femoral neck - Clinodactyly of the 5th finger - Cutaneous finger syndactyly - Delayed puberty - Eczema - Eosinophilia - Hepatomegaly - Hip contracture - Hyperconvex nail - Hypermetropia - Hypogonadotrophic hypogonadism - Hypoplasia of the capital femoral epiphysis - Infancy onset short-trunk short stature - Intellectual disability, borderline - Intellectual disability, mild - Intrauterine growth retardation - Irregular capital femoral epiphysis - Irregular vertebral endplates - Long eyelashes - Long philtrum - Lymphadenopathy - Muscular hypotonia - Narrow nose - Otitis media - Portal fibrosis - Premature birth - Prominent eyelashes - Recurrent infections - Recurrent pneumonia - Recurrent sinusitis - Retinal dystrophy - Short 3rd metacarpal - Short 4th metacarpal - Short fifth metatarsal - Short fourth metatarsal - Short middle phalanx of finger - Single transverse palmar crease - Splenomegaly - Spondyloepiphyseal dysplasia - Strabismus - X-linked recessive 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.
Question: What is (are) heterotaxy syndrome ?

Answer: Heterotaxy syndrome is a condition in which the internal organs are abnormally arranged in the chest and abdomen. The term "heterotaxy" is from the Greek words "heteros," meaning "other than," and "taxis," meaning "arrangement." Individuals with this condition have complex birth defects affecting the heart, lungs, liver, spleen, intestines, and other organs.  In the normal body, most of the organs in the chest and abdomen have a particular location on the right or left side. For example, the heart, spleen, and pancreas are on the left side of the body, and most of the liver is on the right. This normal arrangement of the organs is known as "situs solitus." Rarely, the orientation of the internal organs is completely flipped from right to left, a situation known as "situs inversus." This mirror-image orientation usually does not cause any health problems, unless it occurs as part of a syndrome affecting other parts of the body. Heterotaxy syndrome is an arrangement of internal organs somewhere between situs solitus and situs inversus; this condition is also known as "situs ambiguus." Unlike situs inversus, the abnormal arrangement of organs in heterotaxy syndrome often causes serious health problems.  Heterotaxy syndrome alters the structure of the heart, including the attachment of the large blood vessels that carry blood to and from the rest of the body. It can also affect the structure of the lungs, such as the number of lobes in each lung and the length of the tubes (called bronchi) that lead from the windpipe to the lungs. In the abdomen, the condition can cause a person to have no spleen (asplenia) or multiple small, poorly functioning spleens (polysplenia). The liver may lie across the middle of the body instead of being in its normal position to the right of the stomach. Some affected individuals also have intestinal malrotation, which is an abnormal twisting of the intestines that occurs in the early stages of development before birth.  Depending on the organs involved, signs and symptoms of heterotaxy syndrome can include a bluish appearance of the skin or lips (cyanosis, which is due to a shortage of oxygen), breathing difficulties, an increased risk of infections, and problems with digesting food. The most serious complications are generally caused by critical congenital heart disease, a group of complex heart defects that are present from birth. Biliary atresia, a problem with the bile ducts in the liver, can also cause severe health problems in infancy. Heterotaxy syndrome is often life-threatening in infancy or childhood, even with treatment, although its severity depends on the specific abnormalities involved.
Question: What causes Diarrhea ?

Answer: Acute diarrhea is usually caused by a bacterial, viral, or parasitic infection. Chronic diarrhea is usually related to a functional disorder such as irritable bowel syndrome or an intestinal disease such as Crohns disease.
                
The most common causes of diarrhea include the following:
                
- Bacterial infections. Several types of bacteria consumed through contaminated food or water can cause diarrhea. Common culprits include Campylobacter, Salmonella, Shigella, and Escherichia coli (E. coli).  - Viral infections. Many viruses cause diarrhea, including rotavirus, norovirus, cytomegalovirus, herpes simplex virus, and viral hepatitis. Infection with the rotavirus is the most common cause of acute diarrhea in children. Rotavirus diarrhea usually resolves in 3 to 7 days but can cause problems digesting lactose for up to a month or longer.  - Parasites. Parasites can enter the body through food or water and settle in the digestive system. Parasites that cause diarrhea include Giardia lamblia, Entamoeba histolytica, and Cryptosporidium.  - Functional bowel disorders. Diarrhea can be a symptom of irritable bowel syndrome.  - Intestinal diseases. Inflammatory bowel disease, ulcerative colitis, Crohns disease, and celiac disease often lead to diarrhea.  - Food intolerances and sensitivities. Some people have difficulty digesting certain ingredients, such as lactose, the sugar found in milk and milk products. Some people may have diarrhea if they eat certain types of sugar substitutes in excessive quantities.  - Reaction to medicines. Antibiotics, cancer drugs, and antacids containing magnesium can all cause diarrhea.
                
Some people develop diarrhea after stomach surgery, which may cause food to move through the digestive system more quickly.
                
People who visit certain foreign countries are at risk for travelers diarrhea, which is caused by eating food or drinking water contaminated with bacteria, viruses, or parasites. Travelers diarrhea can be a problem for people traveling to developing countries in Africa, Asia, Latin America, and the Caribbean. Visitors to Canada, most European countries, Japan, Australia, and New Zealand do not face much risk for travelers diarrhea.
                
In many cases, the cause of diarrhea cannot be found. As long as diarrhea goes away on its own within 1 to 2 days, finding the cause is not usually necessary.
Question: What are the treatments for Chronic Diarrhea in Children ?

Answer: The treatment for chronic diarrhea will depend on the cause. Some common causes of chronic diarrhea are treated as follows:
                
- Infections. If a child has prolonged problems digesting certain carbohydrates or proteins after an acute infection, a health care provider may recommend changes in diet. A child may need antibiotics or medications that target parasites to treat infections that do not go away on their own. A health care provider may also prescribe antibiotics to treat small intestinal bacterial overgrowth.    - Functional GI disorders. For toddlers diarrhea, treatment is usually not needed. Most children outgrow toddlers diarrhea by the time they start school. In many children, limiting fruit juice intake and increasing the amount of fiber and fat in the diet may improve symptoms of toddlers diarrhea.  A health care provider may treat IBS with      - changes in diet.    - medication.    - probioticslive microorganisms, usually bacteria, that are similar to microorganisms normally found in the GI tract. Studies have found that probiotics, specifically Bifidobacteria and certain probiotic combinations, improve symptoms of IBS when taken in large enough amounts. However, researchers are still studying the use of probiotics to treat IBS.    - psychological therapy.
                
To help ensure coordinated and safe care, people should discuss their use of complementary and alternative medical practices, including their use of dietary supplements and probiotics, with their health care provider. Read more at www.nccam.nih.gov/health/probiotics.
                

                
- Food allergies and intolerances. A health care provider will recommend changes in diet to manage symptoms of food allergies and intolerances. To treat food allergies, the childs parent or caretaker should remove the food that triggers the allergy from the childs diet.  For children with celiac disease, following a gluten-free diet will stop symptoms, heal existing intestinal damage, and prevent further damage.  The childs parent or caretaker can manage the symptoms of lactose intolerance with changes in the childs diet and by using products that contain the lactase enzyme. Most children with lactose intolerance can tolerate some amount of lactose in their diet. The amount of change needed in the diet depends on how much lactose a child can consume without symptoms.  For children with dietary fructose intolerance, reducing the amount of fructose in the diet can relieve symptoms.    - IBD. A health care provider may use medications, surgery, and changes in diet to treat IBD.
Question: How to prevent Kidney Disease ?

Answer: Risk Factors Diabetes and high blood pressure are the two leading causes of kidney disease. Both diabetes and high blood pressure damage the small blood vessels in your kidneys and can cause kidney disease -- without you feeling it. Other risk factors for kidney disease include: - cardiovascular (heart) disease  - family history -- if you have a mother, father, sister, or brother who has had kidney failure, then you are at increased risk. cardiovascular (heart) disease family history -- if you have a mother, father, sister, or brother who has had kidney failure, then you are at increased risk. Additionally, African Americans, Hispanics, and Native Americans are at high risk for developing kidney failure. This is in part due to high rates of diabetes and high blood pressure in these communities.  If you have ANY of these risk factors, talk to your health care provider about getting tested for kidney disease. If you have kidney disease, you may not feel any different. It is very important to get tested if you are at risk. (Watch the video to learn more about reducing your risk for kidney disease. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.) Prevention If you are at risk for kidney disease, the most important steps you can take to keep your kidneys healthy are to - get your blood and urine checked for kidney disease.  - manage your diabetes, high blood pressure, and heart disease. get your blood and urine checked for kidney disease. manage your diabetes, high blood pressure, and heart disease. Manage your diabetes and high blood pressure, and keep your kidneys healthy by -  eating healthy foods: fresh fruits, fresh or frozen vegetables, whole grains, and low-fat dairy foods  - cutting back on salt   - limiting your alcohol intake   - being more physically active   - losing weight if you are overweight   - taking your medicines the way your provider tells you to   - keeping your cholesterol levels in the target range   - taking steps to quit, if you smoke  - seeing your doctor regularly.  eating healthy foods: fresh fruits, fresh or frozen vegetables, whole grains, and low-fat dairy foods cutting back on salt limiting your alcohol intake being more physically active losing weight if you are overweight taking your medicines the way your provider tells you to keeping your cholesterol levels in the target range taking steps to quit, if you smoke seeing your doctor regularly. By following these steps and keeping risk factors under control -- especially your blood pressure -- you may be able to delay or even prevent kidney failure. Talk to your health care provider to find out the steps that are right for you. Learn about preventing high blood pressure.  Learn about preventing type 2 diabetes.
Question: What is (are) cystic fibrosis ?

Answer: Cystic fibrosis is an inherited disease characterized by the buildup of thick, sticky mucus that can damage many of the body's organs. The disorder's most common signs and symptoms include progressive damage to the respiratory system and chronic digestive system problems. The features of the disorder and their severity varies among affected individuals.  Mucus is a slippery substance that lubricates and protects the linings of the airways, digestive system, reproductive system, and other organs and tissues. In people with cystic fibrosis, the body produces mucus that is abnormally thick and sticky. This abnormal mucus can clog the airways, leading to severe problems with breathing and bacterial infections in the lungs. These infections cause chronic coughing, wheezing, and inflammation. Over time, mucus buildup and infections result in permanent lung damage, including the formation of scar tissue (fibrosis) and cysts in the lungs.  Most people with cystic fibrosis also have digestive problems. Some affected babies have meconium ileus, a blockage of the intestine that occurs shortly after birth. Other digestive problems result from a buildup of thick, sticky mucus in the pancreas. The pancreas is an organ that produces insulin (a hormone that helps control blood sugar levels). It also makes enzymes that help digest food. In people with cystic fibrosis, mucus blocks the ducts of the pancreas, reducing the production of insulin and preventing digestive enzymes from reaching the intestines to aid digestion. Problems with digestion can lead to diarrhea, malnutrition, poor growth, and weight loss. In adolescence or adulthood, a shortage of insulin can cause a form of diabetes known as cystic fibrosis-related diabetes mellitus (CFRDM).  Cystic fibrosis used to be considered a fatal disease of childhood. With improved treatments and better ways to manage the disease, many people with cystic fibrosis now live well into adulthood. Adults with cystic fibrosis experience health problems affecting the respiratory, digestive, and reproductive systems. Most men with cystic fibrosis have congenital bilateral absence of the vas deferens (CBAVD), a condition in which the tubes that carry sperm (the vas deferens) are blocked by mucus and do not develop properly. Men with CBAVD are unable to father children (infertile) unless they undergo fertility treatment. Women with cystic fibrosis may experience complications in pregnancy.
Question: What are the genetic changes related to spinocerebellar ataxia type 3 ?

Answer: Mutations in the ATXN3 gene cause SCA3. The ATXN3 gene provides instructions for making an enzyme called ataxin-3, which is found in cells throughout the body. Ataxin-3 is involved in a mechanism called the ubiquitin-proteasome system that destroys and gets rid of excess or damaged proteins. The molecule ubiquitin is attached (bound) to unneeded proteins, which tags them to be broken down (degraded) within cells. Ataxin-3 removes the ubiquitin from these unwanted proteins just before they are degraded so that the ubiquitin can be used again. Researchers believe that ataxin-3 also may be involved in regulating the first stage of protein production (transcription).  The ATXN3 gene mutations that cause SCA3 involve a DNA segment known as a CAG trinucleotide repeat. This segment is made up of a series of three DNA building blocks (cytosine, adenine, and guanine) that appear multiple times in a row. Normally, the CAG segment is repeated 12 to 43 times within the gene. Most people have fewer than 31 CAG repeats. In people with SCA3, the CAG segment is repeated more than 50 times. People who have 44 to 52 CAG repeats are described as having an "intermediate repeat." These individuals may or may not develop SCA3. People with 75 or fewer repeats tend to first experience signs and symptoms of SCA3 in mid-adulthood, while people with around 80 repeats usually have signs and symptoms by their teens.  An increase in the length of the CAG segment leads to the production of an abnormally long version of the ataxin-3 enzyme that folds into the wrong 3-dimensional shape. This nonfunctional ataxin-3 enzyme cannot remove ubiquitin from proteins that are no longer needed. As a result, these unwanted proteins, along with ubiquitin and ataxin-3, cluster together to form clumps (aggregates) within the nucleus of the cells. It is unclear how these aggregates affect cell function, because they are found in healthy cells as well as those that die.  Nerve cells (neurons) and other types of brain cells are most affected by mutations in the ATXN3 gene. SCA3 is associated with cell death in the part of the brain that is connected to the spinal cord (the brainstem), the part of the brain involved in coordinating movements (the cerebellum), and other areas of the brain. This condition is also associated with the death of neurons in the spinal cord. Over time, the loss of cells in the brain and spinal cord cause the signs and symptoms characteristic of SCA3.
Question: What is (are) immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome ?

Answer: Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is characterized by the development of multiple autoimmune disorders in affected individuals. Autoimmune disorders occur when the immune system malfunctions and attacks the body's own tissues and organs. Although IPEX syndrome can affect many different areas of the body, autoimmune disorders involving the intestines, skin, and hormone-producing (endocrine) glands occur most often. Most patients with IPEX syndrome are males, and the disease can be life-threatening in early childhood.  Almost all individuals with IPEX syndrome develop a disorder of the intestines called enteropathy. Enteropathy occurs when certain cells in the intestines are destroyed by a person's immune system. It causes severe diarrhea, which is usually the first symptom of IPEX syndrome. Enteropathy typically begins in the first few months of life. It can cause failure to gain weight and grow at the expected rate (failure to thrive) and general wasting and weight loss (cachexia).  People with IPEX syndrome frequently develop inflammation of the skin, called dermatitis. Eczema is the most common type of dermatitis that occurs in this syndrome, and it causes abnormal patches of red, irritated skin. Other skin disorders that cause similar symptoms are sometimes present in IPEX syndrome.  The term polyendocrinopathy is used in IPEX syndrome because individuals can develop multiple disorders of the endocrine glands. Type 1 diabetes mellitus is an autoimmune condition involving the pancreas and is the most common endocrine disorder present in people with IPEX syndrome. It usually develops within the first few months of life and prevents the body from properly controlling the amount of sugar in the blood. Autoimmune thyroid disease may also develop in people with IPEX syndrome. The thyroid gland is a butterfly-shaped organ in the lower neck that produces hormones. This gland is commonly underactive (hypothyroidism) in individuals with this disorder, but may become overactive (hyperthyroidism).  Individuals with IPEX syndrome typically develop other types of autoimmune disorders in addition to those that involve the intestines, skin, and endocrine glands. Autoimmune blood disorders are common; about half of affected individuals have low levels of red blood cells (anemia), platelets (thrombocytopenia), or white blood cells (neutropenia) because these cells are attacked by the immune system. In some individuals, IPEX syndrome involves the liver and kidneys.
Question: What are the symptoms of Chromosome 8p23.1 deletion ?

Answer: What are the signs and symptoms of Chromosome 8p23.1 deletion? The Human Phenotype Ontology provides the following list of signs and symptoms for Chromosome 8p23.1 deletion. 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) Cognitive impairment 90% Intrauterine growth retardation 90% Abnormality of the nose 50% Abnormality of the palate 50% Abnormality of the pulmonary artery 50% Attention deficit hyperactivity disorder 50% Complete atrioventricular canal defect 50% Cryptorchidism 50% Displacement of the external urethral meatus 50% Epicanthus 50% External ear malformation 50% High forehead 50% Microcephaly 50% Narrow forehead 50% Neurological speech impairment 50% Seizures 50% Short neck 50% Short stature 50% Weight loss 50% Abnormality of the aorta 7.5% Abnormality of thumb phalanx 7.5% Congenital diaphragmatic hernia 7.5% Deeply set eye 7.5% Hypertrophic cardiomyopathy 7.5% Hypoplastic left heart 7.5% Obesity 7.5% Patent ductus arteriosus 7.5% Preaxial foot polydactyly 7.5% Proximal placement of thumb 7.5% Tetralogy of Fallot 7.5% Transposition of the great arteries 7.5% 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.