umarjan11/Medical-qna huggingface dataset:
Question: What is (are) COG5-congenital disorder of glycosylation ?

Answer: COG5-congenital disorder of glycosylation (COG5-CDG, formerly known as congenital disorder of glycosylation type IIi) is an inherited condition that causes neurological problems and other abnormalities. The pattern and severity of this disorder's signs and symptoms vary among affected individuals.  Individuals with COG5-CDG typically develop signs and symptoms of the condition during infancy. These individuals often have weak muscle tone (hypotonia) and delayed development. Other neurological features include moderate to severe intellectual disability, poor coordination, and difficulty walking. Some affected individuals never learn to speak. Other features of COG5-CDG include short stature, an unusually small head size (microcephaly), and distinctive facial features, which can include ears that are set low and rotated backward, a short neck with a low hairline in the back, and a prominent nose. Less commonly, affected individuals can have hearing loss caused by changes in the inner ear (sensorineural hearing loss), vision impairment, damage to the nerves that control bladder function (a condition called neurogenic bladder), liver disease, and joint deformities (contractures).
Question: What is (are) Tangier disease ?

Answer: Tangier disease is an inherited disorder characterized by significantly reduced levels of high-density lipoprotein (HDL) in the blood. HDL transports cholesterol and certain fats called phospholipids from the body's tissues to the liver, where they are removed from the blood. HDL is often referred to as "good cholesterol" because high levels of this substance reduce the chances of developing heart and blood vessel (cardiovascular) disease. Because people with Tangier disease have very low levels of HDL, they have a moderately increased risk of cardiovascular disease.  Additional signs and symptoms of Tangier disease include a slightly elevated amount of fat in the blood (mild hypertriglyceridemia); disturbances in nerve function (neuropathy); and enlarged, orange-colored tonsils. Affected individuals often develop atherosclerosis, which is an accumulation of fatty deposits and scar-like tissue in the lining of the arteries. Other features of this condition may include an enlarged spleen (splenomegaly), an enlarged liver (hepatomegaly), clouding of the clear covering of the eye (corneal clouding), and type 2 diabetes.
Question: What is (are) Prolactinoma ?

Answer: The pituitary gland, sometimes called the master gland, plays a critical role in regulating growth and development, metabolism, and reproduction. It produces prolactin and other key hormones including
                
- growth hormone, which regulates growth  - adrenocorticotropin (ACTH), which stimulates the adrenal glands to produce cortisol, a hormone important in metabolism and the body's response to stress  - thyrotropin, which signals the thyroid gland to produce thyroid hormone, also involved in metabolism and growth  - luteinizing hormone and follicle-stimulating hormone, which regulate ovulation and estrogen and progesterone production in women and sperm formation and testosterone production in men
                
The pituitary gland sits in the middle of the head in a bony box called the sella turcica. The optic nerves sit directly above the pituitary gland. Enlargement of the gland can cause symptoms such as headaches or visual disturbances. Pituitary tumors may also impair production of one or more pituitary hormones, causing reduced pituitary function, also called hypopituitarism.
Question: What are the complications of Inguinal Hernia ?

Answer: Inguinal hernias can cause the following complications:
                
- Incarceration. An incarcerated hernia happens when part of the fat or small intestine from inside the abdomen becomes stuck in the groin or scrotum and cannot go back into the abdomen. A health care provider is unable to massage the hernia back into the abdomen.  - Strangulation. When an incarcerated hernia is not treated, the blood supply to the small intestine may become obstructed, causing strangulation of the small intestine. This lack of blood supply is an emergency situation and can cause the section of the intestine to die.
                

                
Seek Immediate Care   People who have symptoms of an incarcerated or a strangulated hernia should seek emergency medical help immediately. A strangulated hernia is a life-threatening condition. Symptoms of an incarcerated or a strangulated hernia include   - extreme tenderness or painful redness in the area of the bulge in the groin   - sudden pain that worsens quickly and does not go away   - the inability to have a bowel movement and pass gas   - nausea and vomiting   - fever
Question: What is (are) Asthma ?

Answer: Asthma is a chronic disease that affects your airways. Your airways are tubes that carry air in and out of your lungs. If you have asthma, the inside walls of your airways become sore and swollen. That makes them very sensitive, and they may react strongly to things that you are allergic to or find irritating. When your airways react, they get narrower and your lungs get less air.    Symptoms of asthma include       - Wheezing    - Coughing, especially early in the morning or at night    - Chest tightness    - Shortness of breath       Not all people who have asthma have these symptoms. Having these symptoms doesn't always mean that you have asthma. Your doctor will diagnose asthma based on lung function tests, your medical history, and a physical exam. You may also have allergy tests.    When your asthma symptoms become worse than usual, it's called an asthma attack. Severe asthma attacks may require emergency care, and they can be fatal.    Asthma is treated with two kinds of medicines: quick-relief medicines to stop asthma symptoms and long-term control medicines to prevent symptoms.     NIH: National Heart, Lung, and Blood Institute
Question: What is (are) Diabetes Type 1 ?

Answer: Diabetes means your blood glucose, or blood sugar, levels are too high. With type 1 diabetes, your pancreas does not make insulin. Insulin is a hormone that helps glucose get into your cells to give them energy. Without insulin, too much glucose stays in your blood. Over time, high blood glucose can lead to serious problems with your heart, eyes, kidneys, nerves, and gums and teeth.     Type 1 diabetes happens most often in children and young adults but can appear at any age. Symptoms may include       -  Being very thirsty     -  Urinating often     -  Feeling very hungry or tired     -  Losing weight without trying     -  Having sores that heal slowly     -  Having dry, itchy skin     -  Losing the feeling in your feet or having tingling in your feet     -  Having blurry eyesight        A blood test can show if you have diabetes. If you do, you will need to take insulin for the rest of your life. A blood test called the A1C can check to see how well you are managing your diabetes.    NIH: National Institute of Diabetes and Digestive and Kidney Diseases
Question: What is (are) Multiple Sclerosis ?

Answer: Multiple sclerosis (MS) is a nervous system disease that affects your brain and spinal cord. It damages the myelin sheath, the material that surrounds and protects your nerve cells. This damage slows down or blocks messages between your brain and your body, leading to the symptoms of MS. They can include       - Visual disturbances    - Muscle weakness    - Trouble with coordination and balance    - Sensations such as numbness, prickling, or "pins and needles"     - Thinking and memory problems       No one knows what causes MS. It may be an autoimmune disease, which happens when your immune system attacks healthy cells in your body by mistake. Multiple sclerosis affects women more than men. It often begins between the ages of 20 and 40. Usually, the disease is mild, but some people lose the ability to write, speak, or walk.    There is no single test for MS. Doctors use a medical history, physical exam, neurological exam, MRI, and other tests to diagnose it. There is no cure for MS, but medicines may slow it down and help control symptoms. Physical and occupational therapy may also help.    NIH: National Institute of Neurological Disorders and Stroke
Question: What is (are) Anemia ?

Answer: If you have anemia, your blood does not carry enough oxygen to the rest of your body. The most common cause of anemia is not having enough iron. Your body needs iron to make hemoglobin. Hemoglobin is an iron-rich protein that gives the red color to blood. It carries oxygen from the lungs to the rest of the body.    Anemia has three main causes: blood loss, lack of red blood cell production, and high rates of red blood cell destruction.    Conditions that may lead to anemia include       - Heavy periods    - Pregnancy    - Ulcers    - Colon polyps or colon cancer    - Inherited disorders    - A diet that does not have enough iron, folic acid or vitamin B12    - Blood disorders such as sickle cell anemia and thalassemia, or cancer    - Aplastic anemia, a condition that can be inherited or acquired    - G6PD deficiency, a metabolic disorder       Anemia can make you feel tired, cold, dizzy, and irritable. You may be short of breath or have a headache.    Your doctor will diagnose anemia with a physical exam and blood tests. Treatment depends on the kind of anemia you have.    NIH: National Heart, Lung, and Blood Institute
Question: What are the symptoms of Potato nose ?

Answer: What are the signs and symptoms of Potato nose? The Human Phenotype Ontology provides the following list of signs and symptoms for Potato nose. 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 nose - 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) Tourette syndrome ?

Answer: Tourette syndrome is a complex neurological disorder that is characterized by repetitive, sudden, uncontrolled (involuntary) movements and sounds (vocalizations) called tics. Tourette syndrome is named for Georges Gilles de la Tourette, who first described this disorder in 1885. A variety of genetic and environmental factors likely play a role in causing Tourette syndrome. A small number of people with Tourette syndrome have been found to have mutations involving the SLITRK1 gene. The syndrome is believed to be linked to problems in certain areas of the brain, and the chemical substances (dopamine, serotonin, and norepinephrine) that help nerve cells talk to one another. It is estimated that about 1% of the population has Tourette syndrome. Many people with very mild tics may not be aware of them and never seek medical help. Tourette syndrome is four times as likely to occur in boys as in girls. Although Tourette syndrome can be a chronic condition with symptoms lasting a lifetime, most people with the condition experience their worst symptoms in their early teens, with improvement occurring in the late teens and continuing into adulthood.
Question: What causes Anencephaly ?

Answer: What causes anencephaly? The underlying cause of anencephaly is not fully understood. Like other forms of neural tube defects (NTDs), anencephaly is likely caused by the interaction of multiple genes and environmental factors, many of which remain unknown. Variations in many genes may influence the risk of developing anencephaly. The best-studied gene thus far is the MTHFR gene, which gives the body instructions to make a protein used to process the vitamin folate (also called vitamin B9). A deficiency of folate is a known risk factor for NTDs. Other genes involved in folate processing, and the development of the neural tube, may also affect the risk. Researchers have also looked at environmental factors that could contribute to the risk of anencephaly. Folate appears to play a significant role, and studies have shown that taking folic acid (a form of folate), before getting pregnant and very early in pregnancy, significantly reduces the risk to have a baby with a NTD. Other possible maternal risk factors for anencephaly include diabetes mellitus; obesity; exposure to high heat (such as a fever or use of a hot tub or sauna) in early pregnancy; and the use of certain anti-seizure medications during pregnancy.
Question: What are the treatments for Ehlers-Danlos syndrome, vascular type ?

Answer: How might Ehlers-Danlos syndrome, vascular type be treated? The treatment and management of Ehlers-Danlos syndrome (EDS), vascular type is focused on relieving associated signs and symptoms and preventing serious complications. For example, people with EDS, vascular type have tissue fragility that puts them at high risk for rupture of arteries, muscles and internal organs. It is, therefore, important to seek immediate medical attention for any sudden, unexplained pain as emergency surgery may be indicated. Pregnant women with EDS, vascular type should be followed by a maternal-fetal specialists at a high-risk perinatal center. Periodic screening may be recommended to diagnose aneurysms or other problems that may not be associated with obvious symptoms. People with the EDS, vascular type should also minimize risk of injury by avoiding contact sports, heavy lifting, and weight training. Elective surgery is also discouraged. GeneReview's Web site offers more specific information about the treatment and management of EDS, vascular type. Please click on the link to access this resource. Please speak to your healthcare provider if you have any questions about your personal medical management plan.
Question: What is (are) Prosthetic joint infection ?

Answer: A prosthetic joint infection (PJI) is a rare complication of joint replacement surgery, also known as arthroplasty.  Arthroplasty is done to help relieve pain and restore function in a severely diseased joint, such as a knee, hip or shoulder.  Approximately 0.5 to 1 percent of people with replacement joints develop a PJI.  Infections can occur early in the course of recovery from joint replacement surgery (within the first two months) or much later.  Signs and symptoms of PJI include fever, chills, drainage from the surgical site, and increasing redness, tenderness, swelling and pain of the affected joint.  Prosthetic joint infections are often hard to treat because of the development of a structure called a biofilm within the joint. A biofilm develops when bacteria adhere to the solid surface of the artificial joint. The biofilm can act as a kind of shield to some of the bacteria, making it difficult for the bacteria to be found and destroyed by the body's defenses or by antibiotic medications. An infected joint replacement usually requires surgery to remove the artificial parts and potent antibiotics to kill the bacteria.
Question: How to prevent Parasites - Angiostrongyliasis (also known as Angiostrongylus Infection) ?

Answer: Angiostrongylus cantonensis
    
Prevention of A. cantonensis infections involves educating persons residing in or traveling to areas where the parasite is found about not ingesting raw or undercooked snails and slugs, freshwater shrimp, land crabs, frogs, and monitor lizards, or potentially contaminated vegetables, or vegetable juice. Removing snails, slugs, and rats found near houses and gardens should also help reduce risk. Thoroughly washing hands and utensils after preparing raw snails or slugs is also recommended. Vegetables should be thoroughly washed if eaten raw.
    Angiostrongylus costaricensis
    
Prevention of A. costaricensis infections involves educating persons residing in and traveling to areas where the parasite is known to be found about not ingesting raw or undercooked slugs or potentially contaminated vegetables or vegetable juices. Removing slugs and rats found near houses and gardens should help reduce risk. Thoroughly washing hands and utensils after preparing raw slugs is also recommended. Vegetables should be thoroughly washed if eaten raw.
Question: Who is at risk for Sarcoidosis? ?

Answer: Sarcoidosis affects people of all ages and races. However, it's more common among African Americans and Northern Europeans. In the United States, the disease affects African Americans somewhat more often and more severely than Whites.
                
Studies have shown that sarcoidosis tends to vary amongst ethnic groups. For example, eye problems related to the disease are more common in Japanese people.
                
Lofgren's syndrome, a type of sarcoidosis, is more common in people of European descent. Lofgren's syndrome may involve fever, enlarged lymph nodes, arthritis (usually in the ankles), and/or erythema nodosum. Erythema nodosum is a rash of red or reddish-purple bumps on your ankles and shins. The rash may be warm and tender to the touch.
                
Sarcoidosis is somewhat more common in women than in men. The disease usually develops between the ages of 20 and 50. People who have a family history of sarcoidosis also are at higher risk for the disease.
                
Researchers have looked for a link between sarcoidosis and exposure to workplace and environmental factors. However, no clear link has been found.
Question: What is (are) Neurodegeneration with Brain Iron Accumulation ?

Answer: Neurodegeneration with brain iron accumulation (NBIA) is a rare, inherited, neurological movement disorder characterized by an abnormal accumulation of iron in the brain and progressive degeneration of the nervous system. Symptoms, which vary greatly among patients and usually develop during childhood, may include dystonia (slow writhing, distorting muscle contractions of the limbs, face, or trunk), dysarthria (slurred or slow speech) choreoathetosis (involuntary, purposeless jerky muscle movements), muscle rigidity (uncontrolled tightness of the muscles), spasticity (sudden, involuntary muscle spasms), and/or ataxia (inability to coordinate movements), confusion, disorientation, seizures, stupor, and dementia. Visual changes are also common, most often due to atrophy of the optic nerve (optic atrophy) or degeneration of the retinal layer in the back of the eye (retinal degeneration Cognitive decline occurs in some forms of NBIA; the majority of individuals with NBIA do not have cognitive impairment. Several genes have been found that cause NBIA.
Question: What is (are) oculopharyngeal muscular dystrophy ?

Answer: Oculopharyngeal muscular dystrophy is a genetic condition characterized by muscle weakness that begins in adulthood, typically after age 40. The first symptom in people with this disorder is usually droopy eyelids (ptosis), followed by difficulty swallowing (dysphagia). The swallowing difficulties begin with food, but as the condition progresses, liquids can be difficult to swallow as well. Many people with this condition have weakness and wasting (atrophy) of the tongue. These problems with food intake may cause malnutrition. Some affected individuals also have weakness in other facial muscles.  Individuals with oculopharyngeal muscular dystrophy frequently have weakness in the muscles near the center of the body (proximal muscles), particularly muscles in the upper legs and hips. The weakness progresses slowly over time, and people may need the aid of a cane or a walker. Rarely, affected individuals need wheelchair assistance.  There are two types of oculopharyngeal muscular dystrophy, which are distinguished by their pattern of inheritance. They are known as the autosomal dominant and autosomal recessive types.
Question: Is incontinentia pigmenti inherited ?

Answer: This condition is inherited in an X-linked dominant pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell is sufficient to cause the disorder. Some cells produce a normal amount of IKBKG protein and other cells produce none. The resulting imbalance in cells producing this protein leads to the signs and symptoms of incontinentia pigmenti.  In males (who have only one X chromosome), most IKBKG mutations result in a total loss of the IKBKG protein. A lack of this protein appears to be lethal early in development, so few males are born with incontinentia pigmenti. Affected males who survive may have an IKBKG mutation with relatively mild effects, an IKBKG mutation in only some of the body's cells (mosaicism), or an extra copy of the X chromosome in each cell.  Some people with incontinentia pigmenti inherit an IKBKG mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.
Question: What are the genetic changes related to Lowe syndrome ?

Answer: Mutations in the OCRL gene cause Lowe syndrome. The OCRL gene provides instructions for making an enzyme that helps modify fat (lipid) molecules called membrane phospholipids. By controlling the levels of specific membrane phospholipids, the OCRL enzyme helps regulate the transport of certain substances to and from the cell membrane. This enzyme is also involved in the regulation of the actin cytoskeleton, which is a network of fibers that make up the cell's structural framework. The actin cytoskeleton has several critical functions, including determining cell shape and allowing cells to move.  Some mutations in the OCRL gene prevent the production of any OCRL enzyme. Other mutations reduce or eliminate the activity of the enzyme or prevent it from interacting with other proteins within the cell. Researchers are working to determine how OCRL mutations cause the characteristic features of Lowe syndrome. Because the OCRL enzyme is present throughout the body, it is unclear why the medical problems associated with this condition are mostly limited to the brain, kidneys, and eyes. It is possible that other enzymes may be able to compensate for the defective OCRL enzyme in unaffected tissues.
Question: What is (are) Ankylosing Spondylitis ?

Answer: Ankylosing spondylitis is a type of arthritis of the spine. It causes inflammation between your vertebrae, which are the bones that make up your spine, and in the joints between your spine and pelvis. In some people, it can affect other joints.    AS is more common and more severe in men. It often runs in families. The cause is unknown, but it is likely that both genes and factors in the environment play a role.    Early symptoms of AS include back pain and stiffness. These problems often start in late adolescence or early adulthood. Over time, AS can fuse your vertebrae together, limiting movement. Some people have symptoms that come and go. Others have severe, ongoing pain.    A diagnosis of AS is based on your medical history and a physical examination. You may also have imaging or blood tests.    AS has no cure, but medicines can relieve symptoms and may keep the disease from getting worse. Eating a healthy diet, not smoking, and exercising can also help. In rare cases, you may need surgery to straighten the spine.    NIH: National Institute of Arthritis and Musculoskeletal and Skin Disease