umarjan11/Medical-qna huggingface dataset:
Question: What is (are) Shwachman-Diamond syndrome ?

Answer: Shwachman-Diamond syndrome is an inherited condition that affects many parts of the body, particularly the bone marrow, pancreas, and skeletal system.  The major function of bone marrow is to produce new blood cells. These include red blood cells, which carry oxygen to the body's tissues; white blood cells, which fight infection; and platelets, which are necessary for normal blood clotting. In Shwachman-Diamond syndrome, the bone marrow malfunctions and does not make some or all types of white blood cells. A shortage of neutrophils, the most common type of white blood cell, causes a condition called neutropenia. Most people with Shwachman-Diamond syndrome have at least occasional episodes of neutropenia, which makes them more vulnerable to infections such as pneumonia, recurrent ear infections (otitis media), and skin infections. Less commonly, bone marrow abnormalities lead to a shortage of red blood cells (anemia), which causes fatigue and weakness, or a reduction in the amount of platelets (thrombocytopenia), which can result in easy bruising and abnormal bleeding.  People with Shwachman-Diamond syndrome have an increased risk of several serious complications related to their malfunctioning bone marrow. Specifically, they have a higher-than-average chance of developing myelodysplastic syndrome (MDS) and aplastic anemia, which are disorders that affect blood cell production, and a cancer of blood-forming tissue known as acute myeloid leukemia (AML).  Shwachman-Diamond syndrome also affects the pancreas, which is an organ that plays an essential role in digestion. One of this organ's main functions is to produce enzymes that help break down and use the nutrients from food. In most infants with Shwachman-Diamond syndrome, the pancreas does not produce enough of these enzymes. This condition is known as pancreatic insufficiency. Infants with pancreatic insufficiency have trouble digesting food and absorbing nutrients that are needed for growth. As a result, they often have fatty, foul-smelling stools (steatorrhea); are slow to grow and gain weight (failure to thrive); and experience malnutrition. Pancreatic insufficiency often improves with age in people with Shwachman-Diamond syndrome.  Skeletal abnormalities are another common feature of Shwachman-Diamond syndrome. Many affected individuals have problems with bone formation and growth, most often affecting the hips and knees. Low bone density is also frequently associated with this condition. Some infants are born with a narrow rib cage and short ribs, which can cause life-threatening problems with breathing. The combination of skeletal abnormalities and slow growth results in short stature in most people with this disorder.  The complications of this condition can affect several other parts of the body, including the liver, heart, endocrine system (which produces hormones), eyes, teeth, and skin. Additionally, studies suggest that Shwachman-Diamond syndrome may be associated with delayed speech and the delayed development of motor skills such as sitting, standing, and walking.
Question: What are the treatments for Diabetes ?

Answer: People with type 1 diabetes control their blood sugar with insulin -- either with shots or an insulin pen. Many people with type 2 diabetes can control blood glucose levels with diet and exercise alone. Others require oral medications or insulin, and some people may need to take both, along with lifestyle modification. (Watch the video to learn how one woman manages her type 2 diabetes. 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.) To manage your diabetes, here are things to do every day. -  Take your medicines for diabetes and for any other health problems, even when you feel good.  Take your medicines for diabetes and for any other health problems, even when you feel good. -  Keep track of your blood glucose (blood sugar). You may want to check it one or more times a day. Be sure to talk about it with your health care team.  Keep track of your blood glucose (blood sugar). You may want to check it one or more times a day. Be sure to talk about it with your health care team. -  Check your blood pressure if your doctor advises and keep a record of it. Check your blood pressure if your doctor advises and keep a record of it. -  Check your feet every day for cuts, blisters, red spots and swelling. Call your health care team right away about any sores that do not go away.  Check your feet every day for cuts, blisters, red spots and swelling. Call your health care team right away about any sores that do not go away. -  Brush your teeth and floss every day to keep your mouth, teeth and gums healthy.  Brush your teeth and floss every day to keep your mouth, teeth and gums healthy. -  Stop smoking.  Ask for help to quit. Call 1-800 QUIT NOW ( 1-800-784-8669)  Stop smoking.  Ask for help to quit. Call 1-800 QUIT NOW ( 1-800-784-8669) -  Eat well.  Ask your doctor to give you the name of someone trained to help you create a healthy eating plan, such as a dietitian.  See small steps for eating healthy foods.  Eat well.  Ask your doctor to give you the name of someone trained to help you create a healthy eating plan, such as a dietitian.  See small steps for eating healthy foods.  -  Be active.  Try to exercise almost every day for a total of about 30 minutes. If you haven't exercised lately, begin slowly. To learn more, see  Exercise: How To Get Started, or visit Go4Life,  the exercise and physical activity campaign for older adults from the National Institute on Aging.  Be active.  Try to exercise almost every day for a total of about 30 minutes. If you haven't exercised lately, begin slowly. To learn more, see  Exercise: How To Get Started, or visit Go4Life,  the exercise and physical activity campaign for older adults from the National Institute on Aging.
Question: What are the symptoms of Omenn syndrome ?

Answer: What are the signs and symptoms of Omenn syndrome? Infants with Omenn syndrome typically present shortly after birth, usually by 3 months of age. This is similar to other types of severe combined immunodeficiency (SCID). The characteristic skin findings (red and peeling skin), chronic diarrhea, and failure to thrive often precede the onset of infections. Life-threatening infections caused by common viral, bacterial, and fungal pathogens occur next. Lymphadenopathy and hepatosplenomegaly, both symptoms unique to Omenn syndrome, develop next. The Human Phenotype Ontology provides the following list of signs and symptoms for Omenn 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) Alopecia 90% Hepatomegaly 90% Lymphadenopathy 90% Malabsorption 90% Severe combined immunodeficiency 90% Abnormality of eosinophils 50% Abnormality of temperature regulation 50% Aplasia/Hypoplasia of the eyebrow 50% Dry skin 50% Edema 50% Leukocytosis 50% Pruritus 50% Splenomegaly 50% Thickened skin 50% Abnormality of the fingernails 7.5% Abnormality of the metaphyses 7.5% Anemia 7.5% Autoimmunity 7.5% Hypothyroidism 7.5% Lymphoma 7.5% Nephrotic syndrome 7.5% Sepsis 7.5% Thyroiditis 7.5% Autosomal recessive inheritance - B lymphocytopenia - Diarrhea - Eosinophilia - Erythroderma - Failure to thrive - Hypoplasia of the thymus - Hypoproteinemia - Pneumonia - Recurrent bacterial infections - Recurrent fungal infections - Recurrent viral infections - Severe B lymphocytopenia - Thrombocytopenia - 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 Cronkhite-Canada disease ?

Answer: What are the signs and symptoms of Cronkhite-Canada disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Cronkhite-Canada disease. 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 nail color 90% Abnormality of the fingernails 90% Alopecia 90% Generalized hyperpigmentation 90% Hypoplastic toenails 90% Intestinal polyposis 90% Malabsorption 90% Neoplasm of the colon 90% Neoplasm of the stomach 90% Abdominal pain 50% Anemia 50% Anorexia 50% Aplasia/Hypoplasia of the eyebrow 50% Autoimmunity 50% Gastrointestinal hemorrhage 50% Hypopigmented skin patches 50% Lymphedema 50% Neoplasm of the small intestine 50% Abnormality of the sense of smell 7.5% Cataract 7.5% Congestive heart failure 7.5% Decreased body weight 7.5% Feeding difficulties in infancy 7.5% Furrowed tongue 7.5% Glomerulopathy 7.5% Hepatomegaly 7.5% Hypoproteinemia 7.5% Hypothyroidism 7.5% Macrocephaly 7.5% Paresthesia 7.5% Seizures 7.5% Splenomegaly 7.5% Tapered finger 7.5% Cachexia - Clubbing - Clubbing of fingers - Diarrhea - Gastrointestinal carcinoma - Glossitis - Hamartomatous polyposis - Hematochezia - Hyperpigmentation of the skin - Hypocalcemia - Hypokalemia - Hypomagnesemia - Muscle weakness - Nail dysplasia - Nail dystrophy - Protein-losing enteropathy - Sporadic - Thromboembolism - Vomiting - Xerostomia - 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) dyskeratosis congenita ?

Answer: Dyskeratosis congenita is a disorder that can affect many parts of the body. There are three features that are characteristic of this disorder: fingernails and toenails that grow poorly or are abnormally shaped (nail dystrophy); changes in skin coloring (pigmentation), especially on the neck and chest, in a pattern often described as "lacy"; and white patches inside the mouth (oral leukoplakia).  People with dyskeratosis congenita have an increased risk of developing several life-threatening conditions. They are especially vulnerable to disorders that impair bone marrow function. These disorders disrupt the ability of the bone marrow to produce new blood cells. Affected individuals may develop aplastic anemia, also known as bone marrow failure, which occurs when the bone marrow does not produce enough new blood cells. They are also at higher than average risk for myelodysplastic syndrome, a condition in which immature blood cells fail to develop normally; this condition may progress to a form of blood cancer called leukemia. People with dyskeratosis congenita are also at increased risk of developing leukemia even if they never develop myelodysplastic syndrome. In addition, they have a higher than average risk of developing other cancers, especially cancers of the head, neck, anus, or genitals.  People with dyskeratosis congenita may also develop pulmonary fibrosis, a condition that causes scar tissue (fibrosis) to build up in the lungs, decreasing the transport of oxygen into the bloodstream. Additional signs and symptoms that occur in some people with dyskeratosis congenita include eye abnormalities such as narrow tear ducts that may become blocked, preventing drainage of tears and leading to eyelid irritation; dental problems; hair loss or prematurely grey hair; low bone mineral density (osteoporosis); degeneration (avascular necrosis) of the hip and shoulder joints; or liver disease. Some affected males may have narrowing (stenosis) of the urethra, which is the tube that carries urine out of the body from the bladder. Urethral stenosis may lead to difficult or painful urination and urinary tract infections.  The severity of dyskeratosis congenita varies widely among affected individuals. The least severely affected individuals have only a few mild physical features of the disorder and normal bone marrow function. More severely affected individuals have many of the characteristic physical features and experience bone marrow failure, cancer, or pulmonary fibrosis by early adulthood.  While most people with dyskeratosis congenita have normal intelligence and development of motor skills such as standing and walking, developmental delay may occur in some severely affected individuals. In one severe form of the disorder called Hoyeraal Hreidaarsson syndrome, affected individuals have an unusually small and underdeveloped cerebellum, which is the part of the brain that coordinates movement. Another severe variant called Revesz syndrome involves abnormalities in the light-sensitive tissue at the back of the eye (retina) in addition to the other symptoms of dyskeratosis congenita.
Question: How to diagnose Colon Cancer ?

Answer: Tests that examine the colon and rectum are used to detect (find) and diagnose colon cancer. The following tests and procedures may be used:         -   Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken.    -   Digital rectal exam : An exam of the rectum. The doctor or nurse inserts a lubricated, gloved finger into the rectum to feel for lumps or anything else that seems unusual.    -   Fecal occult blood test (FOBT): A test to check stool (solid waste) for blood that can only be seen with a microscope. A small sample of stool is placed on a special card or in a special container and returned to the doctor or laboratory for testing. Blood in the stool may be a sign of polyps, cancer, or other conditions. There are two types of FOBTs:               -  Guaiac FOBT : The sample of stool on the special card is tested with a chemical. If there is blood in the stool, the special card changes color.      -  Immunochemical FOBT : A liquid is added to the stool sample. This mixture is injected into a machine that contains antibodies that can detect blood in the stool. If there is blood in the stool, a line appears in a window in the machine. This test is also called fecal immunochemical test or FIT.             -   Barium enema : A series of x-rays of the lower gastrointestinal tract. A liquid that contains barium (a silver-white metallic compound) is put into the rectum. The barium coats the lower gastrointestinal tract and x-rays are taken. This procedure is also called a lower GI series.    -   Sigmoidoscopy : A procedure to look inside the rectum and sigmoid (lower) colon for polyps (small areas of bulging tissue), other abnormal areas, or cancer. A sigmoidoscope is inserted through the rectum into the sigmoid colon. A sigmoidoscope is a thin, tube-like instrument with a light and a lens for viewing. It may also have a tool to remove polyps or tissue samples, which are checked under a microscope for signs of cancer.    -   Colonoscopy : A procedure to look inside the rectum and colon for polyps, abnormal areas, or cancer. A colonoscope is inserted through the rectum into the colon. A colonoscope is a thin, tube-like instrument with a light and a lens for viewing. It may also have a tool to remove polyps or tissue samples, which are checked under a microscope for signs of cancer.    -   Virtual colonoscopy : A procedure that uses a series of x-rays called computed tomography to make a series of pictures of the colon. A computer puts the pictures together to create detailed images that may show polyps and anything else that seems unusual on the inside surface of the colon. This test is also called colonography or CT colonography.     -   Biopsy : The removal of cells or tissues so they can be viewed under a microscope by a pathologist to check for signs of cancer.
Question: What is (are) glycogen storage disease type IV ?

Answer: Glycogen storage disease type IV (GSD IV) is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulated glycogen is structurally abnormal and impairs the function of certain organs and tissues, especially the liver and muscles. There are five types of GSD IV, which are distinguished by their severity, signs, and symptoms.  The fatal perinatal neuromuscular type is the most severe form of GSD IV, with signs developing before birth. Excess fluid may build up around the fetus (polyhydramnios) and in the fetus' body. Affected fetuses have a condition called fetal akinesia deformation sequence, which causes a decrease in fetal movement and can lead to joint stiffness (arthrogryposis) after birth. Infants with the fatal perinatal neuromuscular type of GSD IV have very low muscle tone (severe hypotonia) and muscle wasting (atrophy). These infants usually do not survive past the newborn period due to weakened heart and breathing muscles.  The congenital muscular type of GSD IV is usually not evident before birth but develops in early infancy. Affected infants have severe hypotonia, which affects the muscles needed for breathing. These babies often have dilated cardiomyopathy, which enlarges and weakens the heart (cardiac) muscle, preventing the heart from pumping blood efficiently. Infants with the congenital muscular type of GSD IV typically survive only a few months.  The progressive hepatic type is the most common form of GSD IV. Within the first months of life, affected infants have difficulty gaining weight and growing at the expected rate (failure to thrive) and develop an enlarged liver (hepatomegaly). Children with this type develop a form of liver disease called cirrhosis that often is irreversible. High blood pressure in the vein that supplies blood to the liver (portal hypertension) and an abnormal buildup of fluid in the abdominal cavity (ascites) can also occur. By age 1 or 2, affected children develop hypotonia. Children with the progressive hepatic type of GSD IV often die of liver failure in early childhood.  The non-progressive hepatic type of GSD IV has many of the same features as the progressive hepatic type, but the liver disease is not as severe. In the non-progressive hepatic type, hepatomegaly and liver disease are usually evident in early childhood, but affected individuals typically do not develop cirrhosis. People with this type of the disorder can also have hypotonia and muscle weakness (myopathy). Most individuals with this type survive into adulthood, although life expectancy varies depending on the severity of the signs and symptoms.  The childhood neuromuscular type of GSD IV develops in late childhood and is characterized by myopathy and dilated cardiomyopathy. The severity of this type of GSD IV varies greatly; some people have only mild muscle weakness while others have severe cardiomyopathy and die in early adulthood.
Question: What is (are) Osteoarthritis ?

Answer: Affects Many Older People Osteoarthritis is the most common form of arthritis among older people, and it is one of the most frequent causes of physical disability among older adults. The disease affects both men and women. Before age 45, osteoarthritis is more common in men than in women. After age 45, osteoarthritis is more common in women. It is estimated that 33.6% (12.4 million) of individuals age 65 and older are affected by the disease. Osteoarthritis occurs when cartilage, the tissue that cushions the ends of the bones within the joints, breaks down and wears away. In some cases, all of the cartilage may wear away, leaving bones that rub up against each other. Joint Stiffness and Pain Symptoms range from stiffness and mild pain that comes and goes to severe joint pain. Osteoarthritis affects hands, low back, neck, and weight-bearing joints such as knees, hips, and feet. osteoarthritis affects just joints, not internal organs. Hands Osteoarthritis of the hands seems to run in families. If your mother or grandmother has or had osteoarthritis in their hands, youre at greater-than-average risk of having it too. Women are more likely than men to have osteoarthritis in the hands. For most women, it develops after menopause. When osteoarthritis involves the hands, small, bony knobs may appear on the end joints (those closest to the nails) of the fingers. They are called Heberdens (HEBerr-denz) nodes. Similar knobs, called Bouchards (boo-SHARDZ) nodes, can appear on the middle joints of the fingers. Fingers can become enlarged and gnarled, and they may ache or be stiff and numb. The base of the thumb joint also is commonly affected by osteoarthritis. Knees The knees are among the joints most commonly affected by osteoarthritis. Symptoms of knee osteoarthritis include stiffness, swelling, and pain, which make it hard to walk, climb, and get in and out of chairs and bathtubs. Osteoarthritis in the knees can lead to disability. Hips The hips are also common sites of osteoarthritis. As with knee osteoarthritis, symptoms of hip osteoarthritis include pain and stiffness of the joint itself. But sometimes pain is felt in the groin, inner thigh, buttocks, or even the knees. Osteoarthritis of the hip may limit moving and bending, making daily activities such as dressing and putting on shoes a challenge. Spine Osteoarthritis of the spine may show up as stiffness and pain in the neck or lower back. In some cases, arthritis-related changes in the spine can cause pressure on the nerves where they exit the spinal column, resulting in weakness, tingling, or numbness of the arms and legs. In severe cases, this can even affect bladder and bowel function.