umarjan11/Medical-qna huggingface dataset:
Question: Is 1q21.1 microdeletion inherited ?

Answer: 1q21.1 microdeletion is inherited in an autosomal dominant pattern, which means that missing genetic material from one of the two copies of chromosome 1 in each cell is sufficient to increase the risk of delayed development, intellectual disability, and other signs and symptoms.  In at least half of cases, individuals with a 1q21.1 microdeletion inherit the chromosomal change from a parent. In general, parents who carry a 1q21.1 microdeletion have milder signs and symptoms than their children who inherit the deletion, even though the deletion is the same size. About one-quarter of these parents have no associated features.  A 1q21.1 microdeletion can also occur in people whose parents do not carry the chromosomal change. In this situation, the deletion occurs most often as a random event during the formation of reproductive cells (eggs or sperm) in a parent or in early embryonic development.
Question: What are the genetic changes related to coloboma ?

Answer: Coloboma arises from abnormal development of the eye. During the second month of development before birth, a seam called the optic fissure (also known as the choroidal fissure or embryonic fissure) closes to form the structures of the eye. When the optic fissure does not close completely, the result is a coloboma. The location of the coloboma depends on the part of the optic fissure that failed to close.  Coloboma may be caused by changes in many genes involved in the early development of the eye, most of which have not been identified. The condition may also result from a chromosomal abnormality affecting one or more genes. Most genetic changes associated with coloboma have been identified only in very small numbers of affected individuals.  The risk of coloboma may also be increased by environmental factors that affect early development, such as exposure to alcohol during pregnancy. In these cases, affected individuals usually have other health problems in addition to coloboma.
Question: What is (are) alpha-methylacyl-CoA racemase deficiency ?

Answer: Alpha-methylacyl-CoA racemase (AMACR) deficiency is a disorder that causes a variety of neurological problems that begin in adulthood and slowly get worse. People with AMACR deficiency may have a gradual loss in intellectual functioning (cognitive decline), seizures, and migraines. They may also have acute episodes of brain dysfunction (encephalopathy) similar to stroke, involving altered consciousness and areas of damage (lesions) in the brain. Other features of AMACR deficiency may include weakness and loss of sensation in the limbs due to nerve damage (sensorimotor neuropathy), muscle stiffness (spasticity), and difficulty coordinating movements (ataxia). Vision problems caused by deterioration of the light-sensitive layer at the back of the eye (the retina) can also occur in this disorder.
Question: What are the treatments for Goodpasture Syndrome ?

Answer: Goodpasture syndrome is usually treated with
                
- immunosuppressive medications, such as cyclophosphamide, to keep the immune system from making antibodies  - corticosteroid medications to suppress the bodys autoimmune response  - plasmapheresisa procedure that uses a machine to remove blood from the body, separate certain cells from the plasma, and return just the cells to the persons body; the anti-GBM antibodies remain in the plasma and are not returned to the persons body
                
Plasmapheresis is usually continued for several weeks, and immunosuppressive medications may be given for 6 to 12 months, depending on the response to therapy. In most cases, bleeding in the lungs stops and no permanent lung damage occurs. Damage to the kidneys, however, may be long lasting. If the kidneys fail, blood-filtering treatments called dialysis or kidney transplantation may become necessary.
Question: What is (are) Hypothyroidism ?

Answer: The thyroid is a 2-inch-long, butterfly-shaped gland weighing less than 1 ounce. Located in the front of the neck below the larynx, or voice box, it has two lobes, one on each side of the windpipe. The thyroid is one of the glands that make up the endocrine system. The glands of the endocrine system produce and store hormones and release them into the bloodstream. The hormones then travel through the body and direct the activity of the bodys cells.
                
The thyroid gland makes two thyroid hormones, triiodothyronine (T3) and thyroxine (T4). T3 is made from T4 and is the more active hormone, directly affecting the tissues. Thyroid hormones affect metabolism, brain development, breathing, heart and nervous system functions, body temperature, muscle strength, skin dryness, menstrual cycles, weight, and cholesterol levels.
Question: What causes Urinary Tract Infection In Adults ?

Answer: Most UTIs are caused by bacteria that live in the bowel. The bacterium Escherichia coli (E. coli) causes the vast majority of UTIs. Microbes called Chlamydia and Mycoplasma can infect the urethra and reproductive system but not the bladder. Chlamydia and Mycoplasma infections may be sexually transmitted and require treatment of sexual partners.
                
The urinary tract has several systems to prevent infection. The points where the ureters attach to the bladder act like one-way valves to prevent urine from backing up toward the kidneys, and urination washes microbes out of the body. In men, the prostate gland produces secretions that slow bacterial growth. In both sexes, immune defenses also prevent infection. But despite these safeguards, infections still occur. Certain bacteria have a strong ability to attach themselves to the lining of the urinary tract.
Question: Who is at risk for Peripheral Arterial Disease (P.A.D.)? ?

Answer: Smoking is the main risk factor for P.A.D. Your risk of P.A.D. increases four times if you smoke. Smoking also raises your risk for other diseases, such as coronary heart disease (CHD). On average, smokers who develop P.A.D. have symptoms 10 years earlier than nonsmokers who develop P.A.D. As you get older, your risk for P.A.D. increases, usually starting in your fifties. Older age combined with other risk factors, such as smoking or diabetes, also puts you at higher risk. African American men and women have a greater risk of developing P.A.D. than Caucasians. Your risk for P.A.D. is higher if you have diabetes, high cholesterol, high blood pressure, heart disease, or have had a stroke. A family history of these conditions also makes P.A.D. more likely.
Question: What are the symptoms of Lip and Oral Cavity Cancer ?

Answer: Signs of lip and oral cavity cancer include a sore or lump on the lips or in the mouth. These and other signs and symptoms may be caused by lip and oral cavity cancer or by other conditions. Check with your doctor if you have any of the following:          - A sore on the lip or in the mouth that does not heal.    - A lump or thickening on the lips or gums or in the mouth.    - A white or red patch on the gums, tongue, or lining of the mouth.    - Bleeding, pain, or numbness in the lip or mouth.    - Change in voice.    - Loose teeth or dentures that no longer fit well.    - Trouble chewing or swallowing or moving the tongue or jaw.    - Swelling of jaw.    - Sore throat or feeling that something is caught in the throat.        Lip and oral cavity cancer may not have any symptoms and is sometimes found during a regular dental exam.
Question: How to diagnose Penile Cancer ?

Answer: Tests that examine the penis are used to detect (find) and diagnose penile 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 the penis 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.    -   Biopsy : The removal of cells or tissues so they can be viewed under a microscope by a pathologist to check for signs of cancer. The tissue sample is removed during one of the following procedures:                -  Fine-needle aspiration (FNA) biopsy : The removal of tissue or fluid using a thin needle.      -  Incisional biopsy : The removal of part of a lump or a sample of tissue that doesn't look normal.      -  Excisional biopsy : The removal of an entire lump or area of tissue that doesnt look normal.
Question: Do you have information about Nutrition for Seniors

Answer: Summary : Food provides the energy and nutrients you need to be healthy. Nutrients include proteins, carbohydrates, fats, vitamins, minerals and water.     Studies show that a good diet in your later years reduces your risk of osteoporosis, high blood pressure, heart diseases and certain cancers. As you age, you might need less energy. But you still need just as many of the nutrients in food. To get them       -  Choose a variety of healthy foods    -  Avoid empty calories, which are foods with lots of calories but few nutrients, such as chips, cookies, soda and alcohol    -  Pick foods that are low in cholesterol and fat, especially saturated and trans fats        Saturated fats are usually fats that come from animals. Look for trans fat on the labels of processed foods, margarines and shortenings.    NIH: National Institute on Aging
Question: What is (are) Chiari Malformation ?

Answer: Chiari malformations (CMs) are structural defects in the cerebellum. The cerebellum is the part of the brain that controls balance. With CM, brain tissue extends into the spinal canal. It can happen when part of the skull is too small, which pushes the brain tissue down. There are several types of CM. One type often happens in children who have neural tube defects. Some types cause no symptoms and don't need treatment. If you have symptoms, they may include       - Neck pain    - Balance problems    - Numbness or other abnormal feelings in the arms or legs    - Dizziness    - Vision problems    - Difficulty swallowing    - Poor hand coordination       Doctors diagnose CM using imaging tests. Medicines may ease some symptoms, such as pain. Surgery is the only treatment available to correct or stop the progression of nerve damage.    NIH: National Institute of Neurological Disorders and Stroke
Question: Do you have information about Cancer Chemotherapy

Answer: Summary : Normally, your cells grow and die in a controlled way. Cancer cells keep forming without control. Chemotherapy is drug therapy that can kill these cells or stop them from multiplying. However, it can also harm healthy cells, which causes side effects.    During chemotherapy you may have no side effects or just a few. The kinds of side effects you have depend on the type and dose of chemotherapy you get. Side effects vary, but common ones are nausea, vomiting, tiredness, pain and hair loss. Healthy cells usually recover after chemotherapy, so most side effects gradually go away.    Your course of therapy will depend on the cancer type, the chemotherapy drugs used, the treatment goal and how your body responds. You may get treatment every day, every week or every month. You may have breaks between treatments so that your body has a chance to build new healthy cells. You might take the drugs by mouth, in a shot or intravenously.    NIH: National Cancer Institute
Question: Do you have information about Breastfeeding

Answer: Summary : Breastfeeding offers many benefits to your baby. Breast milk contains the right balance of nutrients to help your infant grow into a strong and healthy toddler. Some of the nutrients in breast milk also help protect your infant against some common childhood illnesses and infections. It may also help your health. Certain types of cancer may occur less often in mothers who have breastfed their babies.    Women who don't have health problems should try to give their babies breast milk for at least the first six months of life. Most women with health problems can breastfeed. There are rare exceptions when women are advised not to breastfeed because they have certain illnesses. Some medicines, illegal drugs, and alcohol can also pass through the breast milk and cause harm to your baby. Check with your health care provider if you have concerns about whether you should breastfeed.    If you are having problems with breastfeeding, contact a lactation consultant.    NIH: National Institute of Child Health and Human Development
Question: What is (are) Urethral Disorders ?

Answer: The urethra is the tube that allows urine to pass out of the body. In men, it's a long tube that runs through the penis. It also carries semen in men. In women, it's short and is just above the vagina. Urethral problems may happen due to aging, illness, or injury. They include       - Urethral stricture - a narrowing of the opening of the urethra    - Urethritis - inflammation of the urethra, sometimes caused by infection       Urethral problems may cause pain or difficulty passing urine. You may also have bleeding or discharge from the urethra.    Doctors diagnose urethral problems using different tests. These include urine tests, x-rays and an examination of the urethra with a scope called a cystoscope. Treatment depends on the cause of the problem. It may include medicines and, in severe cases, surgery.
Question: What is (are) Osteoporosis ?

Answer: Osteoporosis makes your bones weak and more likely to break. Anyone can develop osteoporosis, but it is common in older women. As many as half of all women and a quarter of men older than 50 will break a bone due to osteoporosis.    Risk factors include        -  Getting older     -  Being small and thin     -  Having a family history of osteoporosis    -  Taking certain medicines    -  Being a white or Asian woman    -  Having osteopenia, which is low bone density       Osteoporosis is a silent disease. You might not know you have it until you break a bone. A bone mineral density test is the best way to check your bone health. To keep bones strong, eat a diet rich in calcium and vitamin D, exercise and do not smoke. If needed, medicines can also help.     NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases
Question: What is (are) Kernicterus ?

Answer: Kernicterus is a rare condition that affects the brain. It refers to a form of brain damage that occurs when neonatal jaundice goes untreated for too long. The severity of the condition and the associated signs and symptoms vary significantly from person to person. People living with kernicterus may experience athetoid cerebral palsy, hearing loss, intellectual disability, vision abnormalities, and behavioral difficulties. Approximately 60% of all newborn babies will have jaundice, a condition that is characterized by high level of bilirubin in the blood. Risk factors for severe jaundice and higher bilirubin levels include premature birth (before 37 weeks); darker skin color; East Asian or Mediterranean descent; feeding difficulties; jaundice in a sibling; bruising at birth; and a mother with an O blood type or Rh negative blood factor. Early detection and management of jaundice can prevent kernicterus.
Question: What causes Congenital radio-ulnar synostosis ?

Answer: What causes congenital radio-ulnar synostosis? Congenital radio-ulnar synostosis is caused by abnormal development of the forearm bones in the fetal period, although the underlying cause of the developmental abnormality is not always known. The condition may be isolated (occur without other abnormalities) or it may be associated with various other skeletal, cardiac (heart), neurologic, or gastrointestinal abnormalities. When other abnormalities are present, the condition may be due to an underlying genetic cause, including a variety of syndromes or chromosome abnormalities. In some cases, congenital radio-ulnar synostosis appears to be inherited in an autosomal dominant manner. In an article published in 2000, the authors found that autosomal dominant radio-ulnar synostosis with amegakaryocytic thrombocytopenia was caused by mutations in the HOXA11 gene in 2 families.
Question: What are the treatments for Chordoma ?

Answer: How might a chordoma be treated? Unfortunately, because chordomas are quite rare, the best treatment for these tumors has yet to be determined.  The current treatment for chordoma of the clivus often begins with surgery (resection) to remove as much of the tumor as possible.  The extent of surgery, or the amount of tumor that may be removed, depends on the location of the tumor and how close it is to critical structures in the brain.  Surgery is followed by radiation therapy to destroy any cancer cells that may remain after surgery.  Several studies have suggested that proton beam radiation or combined proton/photon radiation may be more effect than conventional photon radiation therapy for treating chordomas of the skull base because proton radiation may allow for a greater dose of radiation to be delivered to the tumor without damaging the surrounding normal tissues.  Approximately 60-70% of individuals treated with combined surgery and radiation therapy remained tumor-free for at least five years.
Question: What is (are) Gangliocytoma ?

Answer: Gangliocytoma is a rare type of central nervous system (CNS) tumor made up of mature neurons. Gangliocytomas may occur in all age groups but most often occur in people between the ages of 10 and 30. The most common site is the temporal lobe of the brain, but they can arise anywhere in the CNS including the cerebellum, brainstem, floor of the third ventricle, and spinal cord. They are among the most frequent tumors associated with epilepsy. Signs and symptoms may depend on the tumor's location and may include seizures (most commonly); increased brain pressure; endocrine disorders; and focal symptoms. Gangliocytomas are generally slow-growing and usually do not become malignant. Treatment involves surgical removal of the tumor. Click here to view a separate page about dysplastic gangliocytoma of the cerebellum (also called Lhermitte-Duclose disease).
Question: What is (are) Juvenile spondyloarthropathy ?

Answer: Juvenile spondyloarthropathy refers to a group of rheumatic diseases that develop during childhood and are characterized by inflammation of the entheses (the regions where tendons or ligaments attach to bones) and joints. The joints of the lower extremities are generally affected first followed by the sacroiliac joints (between the pelvis and the spine) and spinal joints some years later. Signs and symptoms may include pain and swelling of the affected entheses and joints that may be misdiagnosed and treated as an injury. The underlying cause of juvenile spondyloarthropathy is currently unknown; however, the condition is strongly associated with HLA-B27. Some cases appear to occur sporadically while other affected people have a family history of arthritis, or other related condition. Treatment varies based on the type of juvenile spondyloarthropathy but may include various medications.
Question: Is Dextrocardia with situs inversus inherited ?

Answer: Is dextrocardia with situs inversus inherited? In most cases of dextrocardia with situs inversus, a specific genetic cause has not been identified and inheritance patterns have not been confirmed. However, approximately 25% of affected people have primary ciliary dyskinesia, which is typically inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier.
Question: What are the treatments for Chromosome 3p- syndrome ?

Answer: How might chromosome 3p- syndrome be treated? Because chromosome 3p- syndrome affects many different systems of the body, medical management is often provided by a team of doctors and other healthcare professionals. Treatment for this deletion varies based on the signs and symptoms present in each person. For example, children with delayed motor milestones (i.e. walking) and/or muscle problems may be referred for physical or occupational therapy. Severe feeding difficulties may be treated temporarily with a nasogastric tube or a gastrostomy tube to ensure that a baby or child gets enough nutrients. Certain medications may be prescribed to treat seizures. Special education services are often necessary for children with intellectual disability. Surgery may be required to treat certain physical abnormalities such as cleft palate or congenital heart defects, if present. Please speak to your healthcare provider if you have any questions about your personal medical management plan.
Question: What is (are) 22q11.2 deletion syndrome ?

Answer: 22q11.2 deletion syndrome is a spectrum disorder that includes conditions formerly called DiGeorge syndrome; velocardiofacial syndrome; conotruncal anomaly face syndrome; cases of Opitz G/BBB syndrome; and Cayler cardiofacial syndrome. The features and severity can vary greatly among affected people. Signs and symptoms may include cleft palate, heart defects, recurrent infections, unique facial characteristics, feeding problems, immune system disorders, kidney abnormalities, hypoparathyroidism, thrombocytopenia, scoliosis, hearing loss, developmental delay, and learning disabilities. People with this condition are also more likely to develop certain autoimmune disorders and personality disorders. In most cases, the syndrome occurs for the first time in the affected person; about 10% of cases are inherited from a parent. It is inherited in an autosomal dominant manner.
Question: What is (are) Mucoepidermoid carcinoma ?

Answer: Mucoepidermoid carcinoma is a type of cancer of the salivary glands.  Salivary gland cancer is diagnosed in 2-3 individuals per 100,000 people each year, and 30-35% of these are mucoepidermoid carcinomas.   Mucoepidermoid carcinoma develops when a cell randomly acquires changes (mutations) in genes that regulate how the cell divides such that it begins to grow quickly, forming a cluster of cells (a mass or lump).  The earliest signs of a mucoepidermoid carcinoma may include a lump in the face, neck, or mouth; numbness, weakness, or pain in part of the face; or difficulty swallowing.  Treatment often begins with surgery to remove the entire tumor.  In some cases, radiation therapy and/or chemotherapy may be used after surgery to ensure that no cancer cells remain in the body.
Question: What causes Glycogen storage disease type 4 ?

Answer: What causes glycogen storage disease type 4? Glycogen storage disease type 4 (GSD 4) is caused by mutations in the GBE1 gene. The GBE1 gene normally provides instructions for making the glycogen branching enzyme. This enzyme is necessary for making glycogen, a major source of stored energy in the body. Glycogen is formed by assembling many molecules of glucose. The glycogen branching enzyme is involved in the formation of "branches" of glucose chains, which help to make glycogen more compact for storage and allows it to break down more easily when it is needed for energy. The GBE1 gene mutations that cause GSD 4 lead to a decrease in the amount or functionality of the glycogen branching enzyme. Glycogen is then not formed properly, and substances called polyglucosan bodies build up in cells throughout the body, causing the signs and symptoms of the condition.