umarjan11/Medical-qna huggingface dataset:
Question: What are the genetic changes related to holocarboxylase synthetase deficiency ?

Answer: Mutations in the HLCS gene cause holocarboxylase synthetase deficiency.  The HLCS gene provides instructions for making an enzyme called holocarboxylase synthetase. This enzyme is important for the effective use of biotin, a B vitamin found in foods such as liver, egg yolks, and milk. Holocarboxylase synthetase attaches biotin to certain enzymes that are essential for the normal production and breakdown of proteins, fats, and carbohydrates in the body. Mutations in the HLCS gene reduce the enzyme's ability to attach biotin to these enzymes, preventing them from processing nutrients properly and disrupting many cellular functions. These defects lead to the serious medical problems associated with holocarboxylase synthetase deficiency.
Question: What are the treatments for intestinal pseudo-obstruction ?

Answer: These resources address the diagnosis or management of intestinal pseudo-obstruction:  - Children's Hospital of Pittsburgh  - Genetic Testing Registry: Intestinal pseudoobstruction neuronal chronic idiopathic X-linked  - Genetic Testing Registry: Natal teeth, intestinal pseudoobstruction and patent ductus  - Genetic Testing Registry: Visceral myopathy familial with external ophthalmoplegia  - Genetic Testing Registry: Visceral neuropathy familial  - Genetic Testing Registry: Visceral neuropathy, familial, autosomal dominant   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 treatments for acute promyelocytic leukemia ?

Answer: These resources address the diagnosis or management of acute promyelocytic leukemia:  - American Cancer Society: Diagnosis of Acute Myeloid Leukemia  - American Cancer Society: Treatment of Acute Promyelocytic (M3) Leukemia  - Genetic Testing Registry: Acute promyelocytic leukemia  - MedlinePlus Encyclopedia: Acute Myeloid Leukemia  - National Cancer Institute: Adult Acute Myeloid Leukemia Treatment  - National Cancer Institute: Leukemia  - National Heart Lung and Blood Institute: Bone Marrow Tests   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 Perry syndrome ?

Answer: Perry syndrome results from mutations in the DCTN1 gene. This gene provides instructions for making a protein called dynactin-1, which is involved in the transport of materials within cells. To move materials, dynactin-1 interacts with other proteins and with a track-like system of small tubes called microtubules. These components work together like a conveyer belt to move materials within cells. This transport system appears to be particularly important for the normal function and survival of nerve cells (neurons) in the brain.  Mutations in the DCTN1 gene alter the structure of dynactin-1, making it less able to attach (bind) to microtubules and transport materials within cells. This abnormality causes neurons to malfunction and ultimately die. A gradual loss of neurons in areas of the brain that regulate movement, emotion, and breathing underlies the signs and symptoms of Perry syndrome.
Question: What are the treatments for Adrenal Insufficiency and Addison's Disease ?

Answer: Adrenal crisis is treated with adrenal hormones. People with adrenal crisis need immediate treatment. Any delay can cause death. When people with adrenal crisis are vomiting or unconscious and cannot take their medication, the hormones can be given as an injection.
                
A person with adrenal insufficiency should carry a corticosteroid injection at all times and make sure that others know how and when to administer the injection, in case the person becomes unconscious.
                
The dose of corticosteroid needed may vary with a persons age or size. For example, a child younger than 2 years of age can receive 25 milligrams (mg), a child between 2 and 8 years of age can receive 50 mg, and a child older than 8 years should receive the adult dose of 100 mg.
Question: What causes Biliary Atresia ?

Answer: Biliary atresia likely has multiple causes, though none are yet proven. Biliary atresia is not an inherited disease, meaning it does not pass from parent to child. Therefore, survivors of biliary atresia are not at risk for passing the disorder to their children.
                
Biliary atresia is most likely caused by an event in the womb or around the time of birth. Possible triggers of the event may include one or more of the following:
                
- a viral or bacterial infection after birth, such as cytomegalovirus, reovirus, or rotavirus  - an immune system problem, such as when the immune system attacks the liver or bile ducts for unknown reasons  - a genetic mutation, which is a permanent change in a genes structure  - a problem during liver and bile duct development in the womb  - exposure to toxic substances
Question: What is the outlook for Male Breast Cancer ?

Answer: Survival for men with breast cancer is similar to survival for women with breast cancer.
                    Survival for men with breast cancer is similar to that for women with breast cancer when their stage at diagnosis is the same. Breast cancer in men, however, is often diagnosed at a later stage. Cancer found at a later stage may be less likely to be cured.
                
                
                    Certain factors affect prognosis (chance of recovery) and treatment options.
                    The prognosis (chance of recovery) and treatment options depend on the following:         - The stage of the cancer (whether it is in the breast only or has spread to other places in the body).    - The type of breast cancer.    - Estrogen-receptor and progesterone-receptor levels in the tumor tissue.    - Whether the cancer is also found in the other breast.    - The patients age and general health.
Question: What is (are) Mental Disorders ?

Answer: Mental disorders include a wide range of problems, including       - Anxiety disorders, including panic disorder, obsessive-compulsive disorder, post-traumatic stress disorder, and phobias    - Bipolar disorder    - Depression    - Mood disorders    - Personality disorders    - Psychotic disorders, including schizophrenia       There are many causes of mental disorders. Your genes and family history may play a role. Your life experiences, such as stress or a history of abuse, may also matter. Biological factors can also be part of the cause. A traumatic brain injury can lead to a mental disorder. A mother's exposure to viruses or toxic chemicals while pregnant may play a part. Other factors may increase your risk, such as use of illegal drugs or having a serious medical condition like cancer.    Medications and counseling can help many mental disorders.
Question: What is (are) Digestive Diseases ?

Answer: When you eat, your body breaks food down to a form it can use to build and nourish cells and provide energy. This process is called digestion.      Your digestive system is a series of hollow organs joined in a long, twisting tube. It runs from your mouth to your anus and includes your esophagus, stomach, and small and large intestines. Your liver, gallbladder and pancreas are also involved. They produce juices to help digestion.      There are many types of digestive disorders. The symptoms vary widely depending on the problem. In general, you should see your doctor if you have        - Blood in your stool    - Changes in bowel habits    - Severe abdominal pain    - Unintentional weight loss    - Heartburn not relieved by antacids       NIH: National Institute of Diabetes and Digestive and Kidney Diseases
Question: What is (are) Smoking ?

Answer: There's no way around it. Smoking is bad for your health. Smoking harms nearly every organ of the body. Cigarette smoking causes 87 percent of lung cancer deaths. It is also responsible for many other cancers and health problems. These include lung disease, heart and blood vessel disease, stroke and cataracts. Women who smoke have a greater chance of certain pregnancy problems or having a baby die from sudden infant death syndrome (SIDS). Your smoke is also bad for other people - they breathe in your smoke secondhand and can get many of the same problems as smokers do.    E-cigarettes often look like cigarettes, but they work differently. They are battery-operated smoking devices. Not much is known about the health risks of using them.    Quitting smoking can reduce your risk of health problems. The earlier you quit, the greater the benefit.     NIH: National Cancer Institute
Question: What is (are) Tetanus ?

Answer: Tetanus is a serious illness caused by Clostridium bacteria. The bacteria live in soil, saliva, dust, and manure. The bacteria can enter the body through a deep cut, like those you might get from stepping on a nail, or through a burn.    The infection causes painful tightening of the muscles, usually all over the body. It can lead to "locking" of the jaw. This makes it impossible to open your mouth or swallow. Tetanus is a medical emergency. You need to get treatment in a hospital.    A vaccine can prevent tetanus. It is given as a part of routine childhood immunization. Adults should get a tetanus shot, or booster, every 10 years. If you get a bad cut or burn, see your doctor - you may need a booster. Immediate and proper wound care can prevent tetanus infection.
Question: What is (are) Apert syndrome ?

Answer: Apert syndrome is a disorder mainly characterized by craniosynostosis (premature fusion of skull bones, causing abnormalities in the shape of the head and face) and syndactyly (fusion or webbing or fingers and/or toes). Other signs and symptoms may include distinctive facial features (bulging and wide-set eyes; a beaked nose; an underdeveloped upper jaw leading to crowded teeth and other dental problems; and shallow eye sockets which can cause vision problems); polydactyly; hearing loss; hyperhidrosis (increased sweating); and other symptoms. Cognitive abilities in affected individuals range from normal to mild or moderate intellectual disability. It is caused by mutations in the FGFR2 gene and is inherited in an autosomal dominant manner. Management typically includes various surgical procedures that are tailored to the affected individual's needs.
Question: What is (are) Giant axonal neuropathy ?

Answer: Giant axonal neuropathy (GAN) is a neurodegenerative disorder characterized by abnormally large and dysfunctional axons (the specialized extensions of nerve cells that are required for the transmission of nerve impulses). The condition typically appears in infancy or early childhood with severe peripheral motor and sensory neuropathy (affecting movement and sensation in the arms and legs). Early signs include difficulty walking, lack of coordination, and loss of strength. Over time, the central nervous system (brain and spinal cord) becomes involved, causing a gradual decline in mental function, loss of control of body movements, and seizures. Giant axonal neuropathy is caused by mutations in the GAN gene. It follows and autosomal dominant pattern of inheritance. Management is directed by a multidisciplinary team with the goal of optimizing intellectual and physical development.
Question: What are the treatments for Sacrococcygeal Teratoma ?

Answer: How might a sacrococcygeal teratoma be treated? The treatment for sacrococcygeal teratoma (SCT) typically involves surgery to remove the tumor. Surgery occurs either in the prenatal period or shortly after delivery. The timing is dependent on the size of the tumor and the associated symptoms. To learn more about both prenatal and postnatal surgery for SCT, visit the following links from The Children's Hospital of Philadelphia (CHOP) http://www.chop.edu/treatments/fetal-surgery-sacrococcygeal-teratoma-sct/about#.VqGW_PkrJD8 http://www.chop.edu/treatments/postnatal-surgery-sacrococcygeal-teratoma-sct#.VqGX7vkrJD8
Question: What is (are) Hemifacial myohyperplasia ?

Answer: Hemifacial myohyperplasia (HMH) is a developmental disorder that frequently affects the right side of the face and is commonly seen in males. On the affected side of the face, there are usually enlarged tissues that lead to an abnormal jaw shape.  Other features associated with HMH include enlargement of the brain, epilepsy, strabismus, genitourinary system disorders, intellectual disability, and dilation of the pupil on the affected side . Asymmetry of the face is more noticeable with age and remains until the end of adolescence when the asymmetry stabilizes. The cause of HMH is unknown; but theories suggest an imbalance in the endocrine system, neuronal abnormalities, chromosomal abnormalities, random events in twinning and fetal development, and vascular or lymphatic abnormalities.
Question: What is (are) Neonatal intrahepatic cholestasis caused by citrin deficiency ?

Answer: Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is a liver condition is also known as neonatal-onset type II citrullinemia. NICCD blocks the flow of bile (a digestive fluid produced by the liver) and prevents the body from processing certain nutrients properly. This leads to transient intrahepatic cholestasis and variable liver dysfunction in children younger than one year of age. NICCD is generally not severe, and symptoms disappear by age one year with appropriate treatment. Years or even decades later, however, some of these individuals develop the characteristic features of adult-onset type II citrullinemia. NICCD is caused by mutations in the SLC25A13 gene. This condition is inherited in an autosomal recessive pattern.
Question: How to diagnose Antisynthetase syndrome ?

Answer: How is antisynthetase syndrome diagnosed? A diagnosis of antisynthetase syndrome is often suspected based on the presence of characteristic signs and symptoms once other conditions that cause similar features have been ruled out. Additional testing can then be ordered to confirm the diagnosis, determine the severity of the condition, and inform treatment. This testing varies based on the signs and symptoms present in each person, but may include: Blood tests to evaluate levels of muscle enzymes such as creatine kinase and aldolase Laboratory tests to look for the presence of autoantibodies associated with antisynthetase syndrome High resolution computed tomography (HRCT) of the lungs Electromyography (EMG) Muscle biopsy Pulmonary function testing Magnetic resonance imaging (MRI) of affected muscles Evaluation of swallowing difficulties and aspiration risk Lung biopsy
Question: How to diagnose Prader-Willi syndrome ?

Answer: How is Prader-Willi syndrome diagnosed? There are clinical diagnostic criteria for Prader-Willi syndrome (PWS) that were developed in the past that continue to be useful. These criteria can be viewed on the National Institute of Health's NICHD Web site. However, the current mainstay of a diagnosis when PWS is suspected is a form of genetic testing called DNA methylation testing. This testing can detect abnormal, parent-specific imprinting on the region of chromosome 15 that is responsible for PWS. It determines whether the region is maternally inherited only (i.e., the paternally contributed region is absent) and confirms a diagnosis in more than 99% of affected people. DNA methylation testing is especially important in people who have non-classic features, or are too young to show enough features to make the diagnosis based on signs and symptoms alone.
Question: What is (are) Stevens-Johnson syndrome ?

Answer: Stevens-Johnson Syndrome (SJS), also called erythema multiforme major, is a limited form of toxic epidermal necrolysis. This disorder affects the skin, mucous membranes and eyes. Stevens-Johnson syndrome occurs twice as often in men as women, and most cases appear in children and young adults under 30, although it can develop in people at any age. Having a gene called HLA-B 1502, increases risk of having Stevens-Johnson syndrome. It is an emergency medical condition that usually requires hospitalization. Treatment focuses on eliminating the underlying cause, controlling symptoms and minimizing complications and includes pain medication to reduce discomfort, medication to relieve itching (antihistamines), antibiotics to control infection, when needed and medication to reduce skin inflammation (topical steroids).
Question: What are the treatments for Parasites - American Trypanosomiasis (also known as Chagas Disease) ?

Answer: Treatment for Chagas disease is recommended for all people diagnosed with an acute infection, congenital infection, and for those with suppressed immune systems, and for all children with chronic infection. Adults with chronic infection may also benefit from treatment.
    
For cardiac or gastrointestinal problems resulting from Chagas disease, symptomatic treatment may be helpful. Patients should consult with their primary health care provider. Some patients may be referred to a specialist, such as a cardiologist, gastroenterologist, or infectious disease specialist.
    
In the U.S., medication for Chagas is available only through CDC. Your health care provider can talk with CDC staff about whether and how you should be treated.
    
More on: Resources for Health Professionals: Antiparasitic Treatment
Question: what research (or clinical trials) is being done for Generalized Gangliosidoses ?

Answer: The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. The NINDS is a part of the National Institutes of Health (NIH), the largest supporter of biomedical research in the world. Scientists are studying the mechanisms by which the lipids accumulating in these disorders cause harm to the body. NINDS-funded research on the gangliosidoses also includes using variations of magnetic resonance imaging to develop a biomarker (a sign that may indicate risk of a disease and improve diagnosis) to effectively evaluate brain chemistry and disease progression, and expanding the use of virus-delivered gene therapy seen in an animal model of Tay-Sachs and Sandhoff diseases for use in humans.
Question: What are the treatments for Tarlov Cysts ?

Answer: Tarlov cysts may be drained and shunted to relieve pressure and pain, but relief is often only temporary and fluid build-up in the cysts will recur. Corticosteroid injections may also temporarily relieve pain. Other drugs may be prescribed to treat chronic pain and depression. Injecting the cysts with fibrin glue (a combination of naturally occurring substances based on the clotting factor in blood) may provide temporary relief of pain. Some scientists believe the herpes simplex virus, which thrives in an alkaline environment, can cause Tarlov cysts to become symptomatic. Making the body less alkaline, through diet or supplements, may lessen symptoms. Microsurgical removal of the cyst may be an option in select individuals who do not respond to conservative treatments and who continue to experience pain or progressive neurological damage.
Question: What are the treatments for Duchenne and Becker muscular dystrophy ?

Answer: These resources address the diagnosis or management of Duchenne and Becker muscular dystrophy:  - Gene Review: Gene Review: Dilated Cardiomyopathy Overview  - Gene Review: Gene Review: Dystrophinopathies  - Genetic Testing Registry: Becker muscular dystrophy  - Genetic Testing Registry: Duchenne muscular dystrophy  - Genomics Education Programme (UK)  - MedlinePlus Encyclopedia: Becker Muscular Dystrophy  - MedlinePlus Encyclopedia: Dilated Cardiomyopathy  - MedlinePlus Encyclopedia: Duchenne Muscular Dystrophy   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 progressive pseudorheumatoid dysplasia ?

Answer: PPRD is caused by mutations in the WISP3 gene. The function of the protein produced from this gene is not well understood, although it is thought to play a role in bone growth and cartilage maintenance. The WISP3 protein is made in cells called chondrocytes, which produce and maintain cartilage. This protein is associated with the production of certain proteins that make up cartilage, but its role in their production is unclear. WISP3 may also help control signaling pathways involved in the development of cartilage and bone and may help regulate the breakdown of cartilage components.  WISP3 gene mutations lead to an altered protein that may not function. Loss of WISP3 protein function likely disrupts normal cartilage maintenance and bone growth, leading to the cartilage degeneration and joint problems that occur in PPRD.
Question: Is Treacher Collins syndrome inherited ?

Answer: When Treacher Collins syndrome results from mutations in the TCOF1 or POLR1D gene, it is considered an autosomal dominant condition, which means one copy of the altered gene in each cell is sufficient to cause the disorder. About 60 percent of these cases result from new mutations in the gene and occur in people with no history of the disorder in their family. In the remaining autosomal dominant cases, a person with Treacher Collins syndrome inherits the altered gene from an affected parent.  When Treacher Collins syndrome is caused by mutations in the POLR1C gene, the condition has an autosomal recessive pattern of inheritance. Autosomal recessive inheritance means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Question: What is (are) adenosine monophosphate deaminase deficiency ?

Answer: Adenosine monophosphate (AMP) deaminase deficiency is a condition that can affect the muscles used for movement (skeletal muscles). People with this condition do not make enough of an enzyme called AMP deaminase. In most people, AMP deaminase deficiency does not cause any symptoms. People who do experience symptoms typically have muscle pain (myalgia) or weakness after exercise or prolonged physical activity. They often get tired more quickly and stay tired longer than would normally be expected. Some affected individuals have more severe symptoms, but it is unclear whether these symptoms are due solely to a lack of AMP deaminase or additional factors. Muscle weakness is typically apparent beginning in childhood or early adulthood.  Researchers have proposed three types of AMP deaminase deficiency, which are distinguished by their symptoms and genetic cause.
Question: What is (are) X-linked intellectual disability, Siderius type ?

Answer: X-linked intellectual disability, Siderius type is a condition characterized by mild to moderate intellectual disability that affects only males. Affected boys often have delayed development of motor skills such as walking, and their speech may be delayed.  Individuals with X-linked intellectual disability, Siderius type frequently also have an opening in the lip (cleft lip) with an opening in the roof of the mouth (cleft palate). A cleft can occur on one or both sides of the upper lip.  Some boys and men with this condition have distinctive facial features, including a long face, a sloping forehead, a broad nasal bridge, a prominent bone in the lower forehead (supraorbital ridge), and outside corners of the eyes that point upward (upslanting palpebral fissures). Affected individuals may also have low-set ears and large hands.