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

Answer: Brugada syndrome is a condition that causes a disruption of the heart's normal rhythm. Specifically, this disorder can lead to irregular heartbeats in the heart's lower chambers (ventricles), which is an abnormality called ventricular arrhythmia. If untreated, the irregular heartbeats can cause fainting (syncope), seizures, difficulty breathing, or sudden death. These complications typically occur when an affected person is resting or asleep.  Brugada syndrome usually becomes apparent in adulthood, although it can develop any time throughout life. Signs and symptoms related to arrhythmias, including sudden death, can occur from early infancy to late adulthood. Sudden death typically occurs around age 40. This condition may explain some cases of sudden infant death syndrome (SIDS), which is a major cause of death in babies younger than 1 year. SIDS is characterized by sudden and unexplained death, usually during sleep.  Sudden unexplained nocturnal death syndrome (SUNDS) is a condition characterized by unexpected cardiac arrest in young adults, usually at night during sleep. This condition was originally described in Southeast Asian populations, where it is a major cause of death. Researchers have determined that SUNDS and Brugada syndrome are the same disorder.
Question: What is (are) Crouzonodermoskeletal syndrome ?

Answer: Crouzonodermoskeletal syndrome is a disorder characterized by the premature joining of certain bones of the skull (craniosynostosis) during development and a skin condition called acanthosis nigricans.  The signs and symptoms of Crouzonodermoskeletal syndrome overlap with those of a similar condition called Crouzon syndrome. Common features include premature fusion of the skull bones, which affects the shape of the head and face; wide-set, bulging eyes due to shallow eye sockets; eyes that do not point in the same direction (strabismus); a small, beaked nose; and an underdeveloped upper jaw. People with Crouzon syndrome or Crouzonodermoskeletal syndrome usually have normal intelligence.  Several features distinguish Crouzonodermoskeletal syndrome from Crouzon syndrome. People with Crouzonodermoskeletal syndrome have acanthosis nigricans, a skin condition characterized by thick, dark, velvety skin in body folds and creases, including the neck and underarms. In addition, subtle changes may be seen in the bones of the spine (vertebrae) on x-rays. Noncancerous growths called cementomas may develop in the jaw during young adulthood.
Question: What are the treatments for nonsyndromic holoprosencephaly ?

Answer: These resources address the diagnosis or management of nonsyndromic holoprosencephaly:  - Gene Review: Gene Review: Holoprosencephaly Overview  - Genetic Testing Registry: Holoprosencephaly 1  - Genetic Testing Registry: Holoprosencephaly 10  - Genetic Testing Registry: Holoprosencephaly 2  - Genetic Testing Registry: Holoprosencephaly 3  - Genetic Testing Registry: Holoprosencephaly 4  - Genetic Testing Registry: Holoprosencephaly 5  - Genetic Testing Registry: Holoprosencephaly 6  - Genetic Testing Registry: Holoprosencephaly 7  - Genetic Testing Registry: Holoprosencephaly 8  - Genetic Testing Registry: Holoprosencephaly 9  - Genetic Testing Registry: Holoprosencephaly sequence  - Genetic Testing Registry: NODAL-Related Holoprosencephaly   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: What are the genetic changes related to ALG1-congenital disorder of glycosylation ?

Answer: Mutations in the ALG1 gene cause ALG1-CDG. This gene provides instructions for making an enzyme that is involved in a process called glycosylation. During this process, complex chains of sugar molecules (oligosaccharides) are added to proteins and fats (lipids). Glycosylation modifies proteins and lipids so they can fully perform their functions. The enzyme produced from the ALG1 gene transfers a simple sugar called mannose to growing oligosaccharides at a particular step in the formation of the sugar chain. Once the correct number of sugar molecules are linked together, the oligosaccharide is attached to a protein or lipid.  ALG1 gene mutations lead to the production of an abnormal enzyme with reduced activity. The poorly functioning enzyme cannot add mannose to sugar chains efficiently, and the resulting oligosaccharides are often incomplete. Although the short oligosaccharides can be transferred to proteins and fats, the process is not as efficient as with the full-length oligosaccharide. The wide variety of signs and symptoms in ALG1-CDG are likely due to impaired glycosylation of proteins and lipids that are needed for normal function of many organs and tissues.
Question: What are the genetic changes related to congenital generalized lipodystrophy ?

Answer: Mutations in the AGPAT2, BSCL2, CAV1, and PTRF genes cause congenital generalized lipodystrophy types 1 through 4, respectively. The proteins produced from these genes play important roles in the development and function of adipocytes, which are the fat-storing cells in adipose tissue. Mutations in any of these genes reduce or eliminate the function of their respective proteins, which impairs the development, structure, or function of adipocytes and makes the body unable to store and use fats properly. These abnormalities of adipose tissue disrupt hormones and affect many of the body's organs, resulting in the varied signs and symptoms of congenital generalized lipodystrophy.  Some of the genes associated with congenital generalized lipodystrophy also play roles in other cells and tissues. For example, the protein produced from the BSCL2 gene is also present in the brain, although its function is unknown. A loss of this protein in the brain may help explain why congenital generalized lipodystrophy type 2 is sometimes associated with intellectual disability.  In some people with congenital generalized lipodystrophy, no mutations have been found in any of the genes listed above. Researchers are looking for additional genetic changes associated with this disorder.
Question: What are the genetic changes related to autosomal dominant congenital stationary night blindness ?

Answer: Mutations in the RHO, GNAT1, or PDE6B gene cause autosomal dominant congenital stationary night blindness. The proteins produced from these genes are necessary for normal vision, particularly in low-light conditions. These proteins are found in specialized light receptor cells in the retina called rods. Rods transmit visual signals from the eye to the brain when light is dim.  The RHO gene provides instructions for making a protein called rhodopsin, which is turned on (activated) by light entering the eye. Rhodopsin then attaches (binds) to and activates the protein produced from the GNAT1 gene, alpha ()-transducin. The -transducin protein then triggers the activation of a protein called cGMP-PDE, which is made up of multiple parts (subunits) including a subunit produced from the PDE6B gene. Activated cGMP-PDE triggers a series of chemical reactions that create electrical signals. These signals are transmitted from rod cells to the brain, where they are interpreted as vision.  Mutations in the RHO, GNAT1, or PDE6B gene disrupt the normal signaling that occurs within rod cells. As a result, the rods cannot effectively transmit signals to the brain, leading to a lack of visual perception in low light.
Question: What is (are) giant axonal neuropathy ?

Answer: Giant axonal neuropathy is an inherited condition involving dysfunction of a specific type of protein in nerve cells (neurons). The protein is essential for normal nerve function because it forms neurofilaments. Neurofilaments make up a structural framework that helps to define the shape and size of the neurons. This condition is characterized by abnormally large and dysfunctional axons, which are the specialized extensions of nerve cells that are required for the transmission of nerve impulses.  Giant axonal neuropathy generally appears in infancy or early childhood. It progresses slowly as neuronal injury becomes more severe. Signs of giant axonal neuropathy usually begin in the peripheral nervous system, which governs movement and sensation in the arms, legs, and other parts of the body. Most individuals with this disorder first have problems with walking. Later they may lose sensation, coordination, strength, and reflexes in their limbs. Hearing and visual problems may also occur. Extremely kinky hair (as compared to others in the family) is characteristic of giant axonal neuropathy, occurring in almost all affected people.  As the disorder progresses, the brain and spinal cord (central nervous system) may become involved, causing a gradual decline in mental function, loss of control of body movement, and seizures.
Question: What is (are) Hashimoto's Disease ?

Answer: Hashimotos disease, also called chronic lymphocytic thyroiditis or autoimmune thyroiditis, is an autoimmune disease. An autoimmune disease is a disorder in which the bodys immune system attacks the bodys own cells and organs. Normally, the immune system protects the body from infection by identifying and destroying bacteria, viruses, and other potentially harmful foreign substances.
                
In Hashimotos disease, the immune system attacks the thyroid gland, causing inflammation and interfering with its ability to produce thyroid hormones. Large numbers of white blood cells called lymphocytes accumulate in the thyroid. Lymphocytes make the antibodies that start the autoimmune process.
                
Hashimotos disease often leads to reduced thyroid function, or hypothyroidism. Hypothyroidism is a disorder that occurs when the thyroid doesnt make enough thyroid hormone for the bodys needs. Thyroid hormones regulate metabolismthe way the body uses energyand affect nearly every organ in the body. Without enough thyroid hormone, many of the bodys functions slow down. Hashimotos disease is the most common cause of hypothyroidism in the United States.1
                
More information is provided in the NIDDK health topic, Hypothyroidism.
Question: What is (are) Breast Cancer ?

Answer: Breast cancer affects one in eight women during their lives. Breast cancer kills more women in the United States than any cancer except lung cancer. No one knows why some women get breast cancer, but there are a number of risk factors. Risks that you cannot change include       - Age - the chance of getting breast cancer rises as a woman gets older     - Genes - there are two genes, BRCA1 and BRCA2, that greatly increase the risk. Women who have family members with breast or ovarian cancer may wish to be tested.     - Personal factors - beginning periods before age 12 or going through menopause after age 55       Other risks include being overweight, using hormone replacement therapy (also called menopausal hormone therapy), taking birth control pills, drinking alcohol, not having children or having your first child after age 35 or having dense breasts.    Symptoms of breast cancer may include a lump in the breast, a change in size or shape of the breast or discharge from a nipple. Breast self-exam and mammography can help find breast cancer early when it is most treatable. Treatment may consist of radiation, lumpectomy, mastectomy, chemotherapy and hormone therapy.    Men can have breast cancer, too, but the number of cases is small.    NIH: National Cancer Institute
Question: Do you have information about Marijuana

Answer: Summary : Marijuana is a green, brown, or gray mix of dried, crumbled parts from the marijuana plant. It can be rolled up and smoked like a cigarette or cigar or smoked in a pipe. Sometimes people mix it in food or inhale it using a vaporizer.    Marijuana can cause problems with memory, learning, and behavior. Smoking it can cause some of the same coughing and breathing problems as smoking cigarettes. Some people get addicted to marijuana after using it for a while. It is more likely to happen if they use marijuana every day, or started using it when they were teenagers.    Some states have approved "medical marijuana" to ease symptoms of various health problems. The U.S. Food and Drug Administration (FDA) has not approved the marijuana plant as a medicine. However, there have been scientific studies of cannabinoids, the chemicals in marijuana. This has led to two FDA-approved medicines. They contain THC, the active ingredient in marijuana. They treat nausea caused by chemotherapy and increase appetite in patients who have severe weight loss from HIV/AIDS. Scientists are doing more research with marijuana and its ingredients to treat many diseases and conditions.    NIH: National Institute on Drug Abuse
Question: Do you have information about A1C

Answer: Summary : A1C is a blood test for type 2 diabetes and prediabetes. It measures your average blood glucose, or blood sugar, level over the past 3 months. Doctors may use the A1C alone or in combination with other diabetes tests to make a diagnosis. They also use the A1C to see how well you are managing your diabetes. This test is different from the blood sugar checks that people with diabetes do every day.    Your A1C test result is given in percentages. The higher the percentage, the higher your blood sugar levels have been:       - A normal A1C level is below 5.7 percent    - Prediabetes is between 5.7 to 6.4 percent. Having prediabetes is a risk factor for getting type 2 diabetes. People with prediabetes may need retests every year.    - Type 2 diabetes is above 6.5 percent    - If you have diabetes, you should have the A1C test at least twice a year. The A1C goal for many people with diabetes is below 7. It may be different for you. Ask what your goal should be. If your A1C result is too high, you may need to change your diabetes care plan.       NIH: National Institute of Diabetes and Digestive and Kidney Diseases
Question: What is (are) HIV/AIDS and Infections ?

Answer: Having HIV/AIDS weakens your body's immune system. Your immune system normally fights germs that enter your body. When HIV/AIDS makes it weak, it can't fight germs well. This can lead to serious infections that don't often affect healthy people. These are called opportunistic infections (OIs).    There are many types of OIs. Tuberculosis and a serious related disease, Mycobacterium avium complex (MAC) are bacterial infections. Viral infections include cytomegalovirus (CMV) and hepatitis C. Fungi cause thrush (candidiasis), cryptococcal meningitis, pneumocystis carinii pneumonia (PCP) and histoplasmosis, and parasites cause crypto (cryptosporidiosis) and toxo (toxoplasmosis).    Having HIV/AIDS can make any infection harder to treat. People with AIDS are also more likely to suffer complications of common illnesses such as the flu.     The good news is that you can help prevent infections by taking your HIV/AIDS medicines. Other things that can help include practicing safe sex, washing your hands well and often and cooking your food well.
Question: What is (are) Flu ?

Answer: Flu is a respiratory infection caused by a number of viruses. The viruses pass through the air and enter your body through your nose or mouth. Between 5% and 20% of people in the U.S. get the flu each year. The flu can be serious or even deadly for elderly people, newborn babies, and people with certain chronic illnesses.    Symptoms of the flu come on suddenly and are worse than those of the common cold. They may include        - Body or muscle aches    - Chills     - Cough     - Fever     - Headache     - Sore throat        Is it a cold or the flu? Colds rarely cause a fever or headaches. Flu almost never causes an upset stomach. And "stomach flu" isn't really flu at all, but gastroenteritis.    Most people with the flu recover on their own without medical care. People with mild cases of the flu should stay home and avoid contact with others, except to get medical care. If you get the flu, your health care provider may prescribe medicine to help your body fight the infection and lessen symptoms.     The main way to keep from getting the flu is to get a yearly flu vaccine. Good hygiene, including hand washing, can also help.    NIH: National Institute of Allergy and Infectious Diseases
Question: What is (are) Congenital Heart Defects ?

Answer: A congenital heart defect is a problem with the structure of the heart. It is present at birth. Congenital heart defects are the most common type of birth defect. The defects can involve the walls of the heart, the valves of the heart, and the arteries and veins near the heart. They can disrupt the normal flow of blood through the heart. The blood flow can slow down, go in the wrong direction or to the wrong place, or be blocked completely.    Doctors use a physical exam and special heart tests to diagnose congenital heart defects. They often find severe defects during pregnancy or soon after birth. Signs and symptoms of severe defects in newborns include       - Rapid breathing    - Cyanosis - a bluish tint to the skin, lips, and fingernails    - Fatigue    - Poor blood circulation       Many congenital heart defects cause few or no signs and symptoms. They are often not diagnosed until children are older.    Many children with congenital heart defects don't need treatment, but others do. Treatment can include medicines, catheter procedures, surgery, and heart transplants. The treatment depends on the type of the defect, how severe it is, and a child's age, size, and general health.    NIH: National Heart, Lung, and Blood Institute
Question: What are the symptoms of Transposition of the great arteries ?

Answer: What are the signs and symptoms of Transposition of the great arteries? The Human Phenotype Ontology provides the following list of signs and symptoms for Transposition of the great arteries. 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) Transposition of the great arteries - 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 Gastroschisis ?

Answer: What are the signs and symptoms of Gastroschisis? The Human Phenotype Ontology provides the following list of signs and symptoms for Gastroschisis. 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) Gastroschisis 90% Abnormality of the mesentery 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question: What are the symptoms of Atrial septal defect ostium primum ?

Answer: What are the signs and symptoms of Atrial septal defect ostium primum? The Human Phenotype Ontology provides the following list of signs and symptoms for Atrial septal defect ostium primum. 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) Atria septal defect - 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 Pilomatrixoma ?

Answer: What are the signs and symptoms of Pilomatrixoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Pilomatrixoma. 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) Autosomal dominant inheritance - Pilomatrixoma - Somatic mutation - 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.