umarjan11/Medical-qna huggingface dataset:
Question: What is (are) Laryngomalacia ?

Answer: Laryngomalacia is an abnormality of the cartilage of the voice box (larynx) that is present at birth. The condition is characterized by "floppy" cartilage collapsing over the larynx when air is drawn into the lungs (inspiration), leading to airway obstruction. This obstruction causes a noise which may sound like nasal congestion or may be a more high-pitched sound (stridor). Airway sounds typically begin at 4-6 weeks of age. Affected infants have a higher risk of gastroesophageal reflux, and in severe cases may have feeding problems. In rare cases, hypoxemia or hypoventilation may interfere with normal growth and development. The cause of this condition is unknown, but it is thought to be due to delayed maturation of the supporting structures of the larynx. In more than 90% of cases it gradually improves on its own, and noises disappear by age 2 in virtually all infants.
Question: What causes Arts syndrome ?

Answer: What causes Arts syndrome? Arts syndrome is caused by mutations in the PRPS1 gene. This gene provides instructions for making an enzyme called phosphoribosyl pyrophosphate synthetase 1, or PRPP synthetase 1. This enzyme is involved in producing purines and pyrimidines, the building blocks of DNA, RNA, and molecules such as ATP and GTP that serve as energy sources in the cell. The PRPS1 mutations that cause Arts syndrome replace one protein building block (amino acid) with another amino acid in the PRPP synthetase 1 enzyme. The resulting enzyme is likely unstable, compromising its ability to perform its normal function. The disruption of purine and pyrimidine production may impair energy storage and transport in cells. Impairment of these processes may have a particularly severe effect on tissues that require a large amount of energy, such as the nervous system and the immune system, resulting in the neurological problems and immune dysfunction characteristic of Arts syndrome.
Question: What are the treatments for Oculopharyngeal muscular dystrophy ?

Answer: How might oculopharyngeal muscular dystrophy be treated? Treatment of oculopharyngeal muscular dystrophy (OPMD) mainly focuses on the specific signs and symptoms present in each individual. Severe drooping of the eyelid (ptosis) may be treated with plastic surgery on the eyelid (blepharoplasty). The goal of this surgery is to raise the eyelid so that the affected individual can see. Individuals with severe difficulty swallowing (dysphagia) may have a surgical procedure known as cricopharyngeal myotomy. In this procedure, the cricopharyngeal muscle of the throat is cut so that when swallowing occurs, the muscle remains relaxed allowing the passage of food or liquid. Orthopedic devices such as canes, leg braces, or walkers can assist individuals who have difficulty walking. Other treatment is symptomatic and supportive.
Question: What are the treatments for McCune Albright syndrome ?

Answer: How might McCune Albright syndrome be treated? Although there is no cure for McCune Albright syndrome (MAS), drug treatments may help some of the endocrine symptoms, and surgery can help repair some of the bone problems. Generally, treatment depends on what tissues are affected as well as the severity. Surgery may be needed to manage complications associated with fibrous dysplasia, such as progressive visual disturbance, severe pain, and severe disfigurement. Surgery may also be needed to manage associated endocrine abnormalities and/or cancers. Bisphosphonates are frequently used to treat fibrous dysplasia. Strengthening exercises are recommended to help maintain musculature around the bones and minimize the risk of fracture. Treatment of all endocrine symptoms, whether by hormone inhibitors or surgery, is commonly required. More detailed information about the management of MAS syndrome is available on Medscape Reference's Web site.
Question: How to diagnose Klippel Feil syndrome ?

Answer: How is Klippel Feil syndrome diagnosed? Klippel Feil syndrome (KFS) is typically diagnosed when X-rays or other imaging techniques show fusion of cervical vertebrae. X-rays of the entire spine should be performed to detect other spinal abnormalities, and additional imaging studies may be needed to assess the extent of the abnormality. KFS can be associated with a wide range of other abnormalities involving many parts of the body. Therefore, other initial exams are needed to detect additional physical abnormalities or underlying conditions. These include: examination of the chest to rule out involvement of the heart and lungs examination of the chest wall to detect possible rib anomalies MRI for spinal stenosis or neurological deficits ultrasound of the kidneys for renal abnormalities hearing evaluation due to high incidence of hearing loss Various lab tests to assess organ function Additional tests or consultations with specialists may be recommended depending on the features present in each person with KFS.
Question: What is (are) Septo-Optic Dysplasia ?

Answer: Septo-optic dysplasia (SOD) is a rare disorder characterized by abnormal development of the optic disk, pituitary deficiencies, and often agenesis (absence) of the septum pellucidum (the part of the brain that separates the anterior horns or the lateral ventricles of the brain). Symptoms may include blindness in one or both eyes, pupil dilation in response to light, nystagmus (a rapid, involuntary to-and-fro movement of the eyes), inward and outward deviation of the eyes, hypotonia (low muscle tone), and hormonal problems. Seizures may also occur. In a few cases, jaundice (prolonged yellow skin discoloration) may occur at birth. Intellectual problems vary in severity among individuals. While some children with SOD have normal intelligence, others have learning disabilities. Most, however, are developmentally delayed due to vision impairment or neurological problems.
Question: Is breast cancer inherited ?

Answer: Most cases of breast cancer are not caused by inherited genetic factors. These cancers are associated with somatic mutations in breast cells that are acquired during a person's lifetime, and they do not cluster in families.  In hereditary breast cancer, the way that cancer risk is inherited depends on the gene involved. For example, mutations in the BRCA1 and BRCA2 genes are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to increase a person's chance of developing cancer. Although breast cancer is more common in women than in men, the mutated gene can be inherited from either the mother or the father.  In the other syndromes discussed above, the gene mutations that increase cancer risk also have an autosomal dominant pattern of inheritance. It is important to note that people inherit an increased likelihood of developing cancer, not the disease itself. Not all people who inherit mutations in these genes will ultimately develop cancer.  In many cases of breast cancer that clusters in families, the genetic basis for the disease and the mechanism of inheritance are unclear.
Question: What are the genetic changes related to beta-mannosidosis ?

Answer: Mutations in the MANBA gene cause beta-mannosidosis.  The MANBA gene provides instructions for making the enzyme beta-mannosidase. This enzyme works in the lysosomes, which are compartments that digest and recycle materials in the cell. Within lysosomes, the enzyme helps break down complexes of sugar molecules (oligosaccharides) attached to certain proteins (glycoproteins). Beta-mannosidase is involved in the last step of this process, helping to break down complexes of two sugar molecules (disaccharides) containing a sugar molecule called mannose.  Mutations in the MANBA gene interfere with the ability of the beta-mannosidase enzyme to perform its role in breaking down mannose-containing disaccharides. These disaccharides gradually accumulate in the lysosomes and cause cells to malfunction, resulting in the signs and symptoms of beta-mannosidosis.
Question: What are the genetic changes related to hyperlysinemia ?

Answer: Mutations in the AASS gene cause hyperlysinemia. The AASS gene provides instructions for making an enzyme called aminoadipic semialdehyde synthase. This enzyme performs two functions in the breakdown of lysine. First, the enzyme breaks down lysine to a molecule called saccharopine. It then breaks down saccharopine to a molecule called alpha-aminoadipate semialdehyde.  Mutations in the AASS gene that impair the breakdown of lysine result in elevated levels of lysine in the blood and urine. These increased levels of lysine do not appear to have any negative effects on the body.  When mutations in the AASS gene impair the breakdown of saccharopine, this molecule builds up in blood and urine. This buildup is sometimes referred to as saccharopinuria, which is considered to be a variant of hyperlysinemia. It is unclear if saccharopinuria causes any symptoms.
Question: What are the treatments for hereditary hypophosphatemic rickets ?

Answer: These resources address the diagnosis or management of hereditary hypophosphatemic rickets:  - Gene Review: Gene Review: X-Linked Hypophosphatemia  - Genetic Testing Registry: Autosomal dominant hypophosphatemic rickets  - Genetic Testing Registry: Autosomal recessive hypophosphatemic bone disease  - Genetic Testing Registry: Autosomal recessive hypophosphatemic vitamin D refractory rickets  - Genetic Testing Registry: Familial X-linked hypophosphatemic vitamin D refractory rickets  - Genetic Testing Registry: Hypophosphatemic rickets, autosomal recessive, 2   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care
Question: Is immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome inherited ?

Answer: When IPEX syndrome is due to mutations in the FOXP3 gene, it is inherited in an X-linked recessive pattern. The FOXP3 gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation must be present in both copies of the gene to cause the disorder. Males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.  Some people have a condition that appears identical to IPEX syndrome, but they do not have mutations in the FOXP3 gene. The inheritance pattern for this IPEX-like syndrome is unknown, but females can be affected.
Question: What are the genetic changes related to ethylmalonic encephalopathy ?

Answer: Mutations in the ETHE1 gene cause ethylmalonic encephalopathy.  The ETHE1 gene provides instructions for making an enzyme that plays an important role in energy production. It is active in mitochondria, which are the energy-producing centers within cells. Little is known about the enzyme's exact function, however.  Mutations in the ETHE1 gene lead to the production of a nonfunctional version of the enzyme or prevent any enzyme from being made. A lack of the ETHE1 enzyme impairs the body's ability to make energy in mitochondria. Additionally, a loss of this enzyme allows potentially toxic compounds, including ethylmalonic acid and lactic acid, to build up in the body. Excess amounts of these compounds can be detected in urine. It remains unclear how a loss of the ETHE1 enzyme leads to progressive brain dysfunction and the other features of ethylmalonic encephalopathy.
Question: What is (are) Medicare and Continuing Care ?

Answer: Medicare Part D helps pay for medications that a doctor may prescribe. This coverage may help lower prescription drug costs. Medicare drug plans are run by insurance companies and other private companies approved by Medicare. A person who joins Original Medicare and who wants prescription drug coverage will need to choose and sign up for a Medicare Prescription Drug plan (PDP). A person who joins one of the Medicare Advantage Plans will automatically receive prescription drug coverage through that plan if it's offered, usually for an extra cost. For more information about Medicare Part D, visit http://www.medicare.gov to get free copies of "Your Guide to Medicare Prescription Drug Coverage" and "Compare Medicare Prescription Drug Plans." (Under "Search Tools," select "Find a Medicare Publication.") You may also call 1-800-Medicare (1-800-633-4227). TTY users should call 1-877-486-2048.
Question: Who is at risk for Cataract? ?

Answer: As with any surgery, cataract surgery poses risks such as infection and bleeding. Before cataract surgery, your doctor may ask you to temporarily stop taking certain medications that increase the risk of bleeding during surgery. After surgery, you must keep your eye clean, wash your hands before touching your eye, and use the prescribed medications to help minimize the risk of infection. Serious infection can result in loss of vision. Cataract surgery slightly increases your risk of retinal detachment. Other eye disorders, such as nearsightedness, can further increase your risk of retinal detachment after cataract surgery. A retinal detachment causes no pain. Early treatment for retinal detachment often can prevent permanent loss of vision. The longer the retina stays detached, the less likely you will regain good vision once you are treated. Even if you are treated promptly, some vision may be lost. Talk to your eye care professional about these risks. Make sure cataract surgery is right for you.
Question: What is the outlook for Primary CNS Lymphoma ?

Answer: Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) depends on the following:         - The patient's age and general health.     - The level of certain substances in the blood and cerebrospinal fluid (CSF).    - Where the tumor is in the central nervous system, eye, or both.    - Whether the patient has AIDS.         Treatment options depend on the following:          - The stage of the cancer.    - Where the tumor is in the central nervous system.    - The patient's age and general health.    - Whether the cancer has just been diagnosed or has recurred (come back).        Treatment of primary CNS lymphoma works best when the tumor has not spread outside the cerebrum (the largest part of the brain) and the patient is younger than 60 years, able to carry out most daily activities, and does not have AIDS or other diseases that weaken the immune system.
Question: What is the outlook for Chronic Lymphocytic Leukemia ?

Answer: Certain factors affect treatment options and prognosis (chance of recovery). Treatment options depend on:         - The stage of the disease.    - Red blood cell, white blood cell, and platelet blood counts.    - Whether there are signs or symptoms, such as fever, chills, or weight loss.    - Whether the liver, spleen, or lymph nodes are larger than normal.    - The response to initial treatment.    - Whether the CLL has recurred (come back).        The prognosis (chance of recovery) depends on:         - Whether there is a change in the DNA and the type of change, if there is one.    - Whether lymphocytes are spread throughout the bone marrow.    - The stage of the disease.    - Whether the CLL gets better with treatment or has recurred (come back).    - Whether the CLL progresses to lymphoma or prolymphocytic leukemia.    - The patient's general health.
Question: What is (are) Ovarian Cysts ?

Answer: A cyst is a fluid-filled sac. In most cases a cyst on the ovary does no harm and goes away by itself. Most women have them sometime during their lives. Cysts are rarely cancerous in women under 50. Cysts sometimes hurt - but not always. Often, a woman finds out about a cyst when she has a pelvic exam.     If you're in your childbearing years or past menopause, have no symptoms, and have a fluid-filled cyst, you may choose to monitor the cyst. You may need surgery if you have pain, are past menopause or if the cyst does not go away. Birth control pills can help prevent new cysts.    A health problem that may involve ovarian cysts is polycystic ovary syndrome (PCOS). Women with PCOS can have high levels of male hormones, irregular or no periods and small ovarian cysts.    Dept. of Health and Human Services Office on Women's Health
Question: Do you have information about Genetic Testing

Answer: Summary : Genetic tests are tests on blood and other tissue to find genetic disorders. Over 2000 tests are available. Doctors use genetic tests for several reasons. These include       - Finding genetic diseases in unborn babies    - Finding out if people carry a gene for a disease and might pass it on to their children    - Screening embryos for disease     - Testing for genetic diseases in adults before they cause symptoms    - Making a diagnosis in a person who has disease symptoms    - Figuring out the type or dose of a medicine that is best for a certain person       People have many different reasons for being tested or not being tested. For some, it is important to know whether a disease can be prevented or treated if a test is positive. In some cases, there is no treatment. But test results might help a person make life decisions, such as family planning or insurance coverage. A genetic counselor can provide information about the pros and cons of testing.    NIH: National Human Genome Research Institute
Question: What is (are) Childbirth ?

Answer: When you are ready to have your baby, you'll go through labor. Contractions let you know labor is starting. When contractions are five minutes apart, your body is ready to push the baby out.    During the first stage of labor, your cervix slowly opens, or dilates, to about 4 inches wide. At the same time, it becomes thinner. This is called effacement. You shouldn't push until your uterus is fully effaced and dilated. When it is, the baby delivery stage starts. Crowning is when your baby's scalp comes into view. Shortly afterward, your baby is born. The placenta that nourished the baby follows.    Mothers and babies are monitored closely during labor. Most women are healthy enough to have a baby through normal vaginal delivery, meaning that the baby comes down the birth canal without surgery. If there are complications, the baby may need to be delivered surgically by a Cesarean section.     Dept. of Health and Human Services Office on Women's Health
Question: Do you have information about Immunization

Answer: Summary : Shots may hurt a little, but the diseases they can prevent are a lot worse. Some are even life-threatening. Immunization shots, or vaccinations, are essential. They protect against things like measles, mumps, rubella, hepatitis B, polio, tetanus, diphtheria, and pertussis (whooping cough). Immunizations are important for adults as well as children.    Your immune system helps your body fight germs by producing substances to combat them. Once it does, the immune system "remembers" the germ and can fight it again. Vaccines contain germs that have been killed or weakened. When given to a healthy person, the vaccine triggers the immune system to respond and thus build immunity.     Before vaccines, people became immune only by actually getting a disease and surviving it. Immunizations are an easier and less risky way to become immune.     NIH: National Institute of Allergy and Infectious Diseases
Question: What is (are) Whooping Cough ?

Answer: Whooping cough is an infectious bacterial disease that causes uncontrollable coughing. The name comes from the noise you make when you take a breath after you cough. You may have choking spells or may cough so hard that you vomit.     Anyone can get whooping cough, but it is more common in infants and children. It's especially dangerous for infants. The coughing spells can be so bad that it is hard for infants to eat, drink, or breathe.    To make a diagnosis, your doctor may do a physical exam, blood tests, chest x-rays, or nose or throat cultures.    Before there was a vaccine, whooping cough was one of the most common childhood diseases and a major cause of childhood deaths in the U.S. Now most cases are prevented by vaccines. If you have whooping cough, treatment with antibiotics may help if given early.    Centers for Disease Control and Prevention
Question: Do you have information about First Aid

Answer: Summary : Accidents happen. Someone chokes on an ice cube or gets stung by a bee. It is important to know when to call 9-1-1 -- it is for life-threatening emergencies. While waiting for help to arrive, you may be able to save someone's life. Cardiopulmonary resuscitation (CPR) is for people whose hearts or breathing has stopped and the Heimlich maneuver is for people who are choking.    You can also learn to handle common injuries and wounds. Cuts and scrapes, for example, should be rinsed with cool water. To stop bleeding, apply firm but gentle pressure, using gauze. If blood soaks through, add more gauze, keeping the first layer in place. Continue to apply pressure.     It is important to have a first aid kit available. Keep one at home and one in your car. It should include a first-aid guide. Read the guide to learn how to use the items, so you are ready in case an emergency happens.
Question: Do you have information about Medical Ethics

Answer: Summary : The field of ethics studies principles of right and wrong. There is hardly an area in medicine that doesn't have an ethical aspect. For example, there are ethical issues relating to        - End of life care: Should a patient receive nutrition? What about advance directives and resuscitation orders?    - Abortion: When does life begin? Is it ethical to terminate a pregnancy with a birth defect?    - Genetic and prenatal testing: What happens if you are a carrier of a defect? What if testing shows that your unborn baby has a defect?    - Birth control: Should it be available to minors?    - Is it ethical to harvest embryonic stem cells to treat diseases?    - Organ donation: Must a relative donate an organ to a sick relative?    - Your personal health information: who has access to your records?    - Patient rights: Do you have the right to refuse treatment?    - When you talk with your doctor, is it ethical for her to withhold information from you or your family?
Question: Do you have information about Assisted Reproductive Technology

Answer: Summary : Assisted reproductive technology (ART) is used to treat infertility. It includes fertility treatments that handle both a woman's egg and a man's sperm. It works by removing eggs from a woman's body. The eggs are then mixed with sperm to make embryos. The embryos are then put back in the woman's body. In vitro fertilization (IVF) is the most common and effective type of ART.     ART procedures sometimes use donor eggs, donor sperm, or previously frozen embryos. It may also involve a surrogate or gestational carrier. A surrogate is a woman who becomes pregnant with sperm from the male partner of the couple. A gestational carrier becomes pregnant with an egg from the female partner and the sperm from the male partner.     The most common complication of ART is a multiple pregnancy. It can be prevented or minimized by limiting the number of embryos that are put into the woman's body.