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

Answer: Beriberi is a condition that occurs in people who are deficient in thiamine (vitamin B1). There are two major types of beriberi: wet beriberi which affects the cardiovascular system and dry beriberi which affects the nervous system. People with wet beriberi may experience increased heart rate, shortness of breath, and swelling of the lower legs. Signs and symptoms of dry beriberi include difficulty walking; loss of feeling in the hands and/or feet; paralysis of the lower legs; mental confusion; speech difficulty; pain; and/or vomiting. Beriberi is rare in the United States since many foods are now vitamin enriched; however, alcohol abuse, dialysis and taking high doses of diuretics increases the risk of developing the condition. In most cases, beriberi occurs sporadically in people with no family history of the condition. A rare condition known as genetic beriberi is inherited (passed down through families) and is associated with an inability to absorb thiamine from foods. Treatment generally includes thiamine supplementation, given by injection or taken by mouth.
Question: What is (are) Hutchinson-Gilford progeria syndrome ?

Answer: Hutchinson-Gilford progeria syndrome is a genetic condition characterized by the dramatic, rapid appearance of aging beginning in childhood. Affected children typically look normal at birth and in early infancy, but then grow more slowly than other children and do not gain weight at the expected rate (failure to thrive). They develop a characteristic facial appearance including prominent eyes, a thin nose with a beaked tip, thin lips, a small chin, and protruding ears. Hutchinson-Gilford progeria syndrome also causes hair loss (alopecia), aged-looking skin, joint abnormalities, and a loss of fat under the skin (subcutaneous fat). This condition does not disrupt intellectual development or the development of motor skills such as sitting, standing, and walking.  People with Hutchinson-Gilford progeria syndrome experience severe hardening of the arteries (arteriosclerosis) beginning in childhood. This condition greatly increases the chances of having a heart attack or stroke at a young age. These serious complications can worsen over time and are life-threatening for affected individuals.
Question: What are the genetic changes related to hypermanganesemia with dystonia, polycythemia, and cirrhosis ?

Answer: Mutations in the SLC30A10 gene cause HMDPC. This gene provides instructions for making a protein that transports manganese across cell membranes. Manganese is important for many cellular functions, but large amounts are toxic, particularly to brain and liver cells. The SLC30A10 protein is found in the membranes surrounding liver cells and nerve cells in the brain, as well as in the membranes of structures within these cells. The protein protects these cells from high concentrations of manganese by removing manganese when levels become elevated.  Mutations in the SLC30A10 gene impair the transport of manganese out of cells, allowing the element to build up in the brain and liver. Manganese accumulation in the brain leads to the movement problems characteristic of HMDPC. Damage from manganese buildup in the liver leads to liver abnormalities in people with this condition. High levels of manganese help increase the production of red blood cells, so excess amounts of this element also result in polycythemia.
Question: Is X-linked sideroblastic anemia inherited ?

Answer: This condition is inherited in an X-linked recessive pattern. The gene associated with this condition 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 would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, 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.  In X-linked recessive inheritance, a female with one altered copy of the gene in each cell is called a carrier. Carriers of an ALAS2 mutation can pass on the mutated gene, but most do not develop any symptoms associated with X-linked sideroblastic anemia. However, carriers may have abnormally small, pale red blood cells and related changes that can be detected with a blood test.
Question: What are the genetic changes related to lissencephaly with cerebellar hypoplasia ?

Answer: LCH can be caused by mutations in the RELN or TUBA1A gene. The RELN gene provides instructions for making a protein called reelin. In the developing brain, reelin turns on (activates) a signaling pathway that triggers nerve cells (neurons) to migrate to their proper locations. The protein produced from the TUBA1A gene is also involved in neuronal migration as a component of cell structures called microtubules. Microtubules are rigid, hollow fibers that make up the cell's structural framework (the cytoskeleton). Microtubules form scaffolding within the cell that elongates in a specific direction, altering the cytoskeleton and moving neurons.  Mutations in either the RELN or TUBA1A gene impair the normal migration of neurons during fetal development. As a result, neurons are disorganized, the normal folds and grooves of the brain do not form, and brain structures do not develop properly. This impairment of brain development leads to the neurological problems characteristic of LCH.
Question: Is palmoplantar keratoderma with deafness inherited ?

Answer: Palmoplantar keratoderma with deafness can have different inheritance patterns. When this disorder is caused by GJB2 gene mutations, it is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.  When palmoplantar keratoderma with deafness is caused by mutations in the MT-TS1 gene, it is inherited in a mitochondrial pattern, which is also known as maternal inheritance. This pattern of inheritance applies to genes contained in mitochondrial DNA (mtDNA). Because egg cells, but not sperm cells, contribute mitochondria to the developing embryo, children can only inherit disorders resulting from mtDNA mutations from their mother. These disorders can appear in every generation of a family and can affect both males and females, but fathers do not pass traits associated with changes in mtDNA to their children.
Question: What are the genetic changes related to Andersen-Tawil syndrome ?

Answer: Mutations in the KCNJ2 gene cause Andersen-Tawil syndrome.  The KCNJ2 gene provides instructions for making a protein that forms a channel across cell membranes. This channel transports positively charged atoms (ions) of potassium into muscle cells. The movement of potassium ions through these channels is critical for maintaining the normal functions of muscles used for movement (skeletal muscles) and cardiac muscle. Mutations in the KCNJ2 gene alter the usual structure and function of potassium channels or prevent the channels from being inserted correctly into the cell membrane. Many mutations prevent a molecule called PIP2 from binding to the channels and effectively regulating their activity. These changes disrupt the flow of potassium ions in skeletal and cardiac muscle, leading to the periodic paralysis and irregular heart rhythm characteristic of Andersen-Tawil syndrome.  Researchers have not determined the role of the KCNJ2 gene in bone development, and it is not known how mutations in the gene lead to the developmental abnormalities often found in Andersen-Tawil syndrome.
Question: What are the genetic changes related to Simpson-Golabi-Behmel syndrome ?

Answer: Mutations in the GPC3 gene are responsible for some cases of Simpson-Golabi-Behmel syndrome. This gene provides instructions for making a protein called glypican 3, which is involved in the regulation of cell growth and division (cell proliferation). Researchers believe that the GPC3 protein can also cause certain cells to self-destruct (undergo apoptosis) when they are no longer needed, which can help establish the body's shape.  GPC3 mutations can delete part or all of the gene, or alter the structure of glypican 3. These mutations prevent the protein from performing its usual functions, which may contribute to an increased rate of cell growth and cell division starting before birth. It is unclear, however, how a shortage of functional glypican 3 causes overgrowth of the entire body and the other abnormalities characteristic of Simpson-Golabi-Behmel syndrome.  Some individuals with Simpson-Golabi-Behmel syndrome do not have identified mutations in the GPC3 gene. In these cases, the cause of the condition is unknown.
Question: What are the treatments for C3 glomerulopathy ?

Answer: These resources address the diagnosis or management of C3 glomerulopathy:  - Gene Review: Gene Review: Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II  - Genetic Testing Registry: C3 Glomerulonephritis  - Genetic Testing Registry: CFHR5 deficiency  - Genetic Testing Registry: CFHR5-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II  - Genetic Testing Registry: Factor H deficiency  - Genetic Testing Registry: Mesangiocapillary glomerulonephritis, type II  - National Institute of Diabetes and Digestive and Kidney Diseases: Kidney Failure: Choosing a Treatment That's Right for You   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 is (are) Anemia of Inflammation and Chronic Disease ?

Answer: Anemia of inflammation and chronic disease is a type of anemia that commonly occurs with chronic, or long term, illnesses or infections. Cancer and inflammatory disorders, in which abnormal activation of the immune system occurs, can also cause AI/ACD.
                
AI/ACD is easily confused with iron-deficiency anemia because in both forms of anemia levels of iron circulating in the blood are low. Iron in the body is found both circulating in the blood and stored in body tissues. Circulating iron is necessary for red blood cell production. Low blood iron levels occur in iron-deficiency anemia because levels of the iron stored in the bodys tissues are depleted. In AI/ACD, however, iron stores are normal or high. Low blood iron levels occur in AI/ACD, despite normal iron stores, because inflammatory and chronic diseases interfere with the bodys ability to use stored iron and absorb iron from the diet. AI/ACD is the second most common form of anemia, after iron-deficiency anemia.1
Question: What is (are) Irritable Bowel Syndrome in Children ?

Answer: Irritable bowel syndrome is a functional gastrointestinal (GI) disorder, meaning it is a problem caused by changes in how the GI tract works. Children with a functional GI disorder have frequent symptoms, but the GI tract does not become damaged. IBS is not a disease; it is a group of symptoms that occur together. The most common symptoms of IBS are abdominal pain or discomfort, often reported as cramping, along with diarrhea, constipation, or both. In the past, IBS was called colitis, mucous colitis, spastic colon, nervous colon, and spastic bowel. The name was changed to reflect the understanding that the disorder has both physical and mental causes and is not a product of a persons imagination.
                
IBS is diagnosed when a child who is growing as expected has abdominal pain or discomfort once per week for at least 2 months without other disease or injury that could explain the pain. The pain or discomfort of IBS may occur with a change in stool frequency or consistency or may be relieved by a bowel movement.
Question: What is (are) Knee Replacement ?

Answer: You can learn more about knee replacement from the following resources. National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)   Information Clearinghouse  National Institutes of Health  1 AMS Circle  Bethesda, MD 20892-3675  Phone: 301-495-4484  Toll Free: 877-22-NIAMS (226-4267)  TTY: 301-565-2966  Fax: 301-718-6366  Email: NIAMSinfo@mail.nih.gov  Website:  http://www.niams.nih.gov American Physical Therapy Association  Website: http://www.apta.org  Arthritis Foundation  Website:  http://www.arthritis.org The Knee Society  Website:  http://www.kneesociety.org  MedlinePlus  Website: http://www.nlm.nih.gov/medlineplus/kneereplacement.html
Question: What is (are) Polycystic Ovary Syndrome ?

Answer: Polycystic ovary syndrome (PCOS) happens when a woman's ovaries or adrenal glands produce more male hormones than normal. One result is that cysts (fluid-filled sacs) develop on the ovaries. Women who are obese are more likely to have polycystic ovary syndrome.    Symptoms of PCOS include:      - Infertility    - Pelvic pain    - Excess hair growth on the face, chest, stomach, thumbs, or toes    - Baldness or thinning hair    - Acne, oily skin, or dandruff    - Patches of thickened dark brown or black skin          Women with PCOS are at higher risk of diabetes, metabolic syndrome, heart disease, and high blood pressure. Medicines can help control the symptoms. Birth control pills help women have normal periods, reduce male hormone levels, and clear acne. Other medicines can reduce hair growth and control blood pressure and cholesterol. There is no cure.    NIH: National Institute of Child Health and Human Development
Question: What is (are) Obesity in Children ?

Answer: Obesity means having too much body fat. It is different from being overweight, which means weighing too much. Both terms mean that a person's weight is greater than what's considered healthy for his or her height. Children grow at different rates, so it isn't always easy to know when a child is obese or overweight. Ask your health care provider to check whether your child's weight and height are in a healthy range.    If a weight-loss program is necessary, involve the whole family in healthy habits so your child doesn't feel singled out. Encourage healthy eating by       - Serving more fruits and vegetables    - Buying fewer soft drinks and high-fat, high-calorie snack foods    - Making sure your child eats breakfast every day    - Eating fast food less often    - Not using food as a reward       Physical activity is also very important. Kids need about 60 minutes each day. It does not have to happen all at once. Several short periods of activity during the day are just as good.    NIH: National Institute of Diabetes and Digestive and Kidney Diseases
Question: What is (are) G6PD Deficiency ?

Answer: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a genetic disorder that is most common in males. About 1 in 10 African American males in the United States has it. G6PD deficiency mainly affects red blood cells, which carry oxygen from the lungs to tissues throughout the body. The most common medical problem it can cause is hemolytic anemia. That happens when red blood cells are destroyed faster than the body can replace them.    If you have G6PD deficiency, you may not have symptoms. Symptoms happen if your red blood cells are exposed to certain chemicals in food or medicine, certain bacterial or viral infections, or stress. They may include       - Paleness    - Jaundice    - Dark urine    - Fatigue    - Shortness of breath    - Enlarged spleen    - Rapid heart rate       A blood test can tell if you have it. Treatments include medicines to treat infection, avoiding substances that cause the problem with red blood cells, and sometimes transfusions.    NIH: National Library of Medicine
Question: What is (are) VACTERL association ?

Answer: VACTERL association is a non-random association of birth defects that affects multiple parts of the body. The term VACTERL is an acronym with each letter representing the first letter of one of the more common findings seen in affected individuals: (V) = vertebral abnormalities; (A) = anal atresia; (C) = cardiac (heart) defects; (T) = tracheal anomalies including tracheoesophageal (TE) fistula; (E) = esophageal atresia; (R) = renal (kidney) and radial (thumb side of hand) abnormalities; and (L) = other limb abnormalities. Other features may include (less frequently) growth deficiencies and failure to thrive; facial asymmetry (hemifacial microsomia); external ear malformations; intestinal malrotation; and genital anomalies. Intelligence is usually normal. The exact cause of VACTERL association is unknown; most cases occur randomly, for no apparent reason. In rare cases, VACTERL association has occurred in more than one family member.
Question: How to diagnose Pachyonychia congenita ?

Answer: Is genetic testing available for pachyonychia congenita? Yes, genetic testing is available for the five genes known to cause pachyonychia congenita. Carrier testing for at-risk relatives and prenatal testing are possible if the disease-causing mutation in the family is known. The Genetic Testing Registry (GTR) is a centralized online resource for information about genetic tests. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. How is pachyonychia congenita diagnosed? A diagnosis of pachyonychia congenita (PC) is often suspected based on the presence of characteristic signs and symptoms. In fact, one study found that approximately 97% of people with genetically confirmed PC have toenail thickening, plantar keratoderma (thickening of the skin on the soles of the feet) and plantar pain by age ten. Identification of a change (mutation) in one of the five genes associated with PC confirms the diagnosis.
Question: What is (are) Nuclear Gene-Encoded Leigh Syndrome ?

Answer: Nuclear gene-encoded Leigh syndrome is a progressive neurological disease. It usually first becomes apparent in infancy with developmental delay or regression. Rarely, the disease begins in adolescence or adulthood. Symptoms progress to include generalized weakness, lack of muscle tone, spasticity, movement disorders, cerebellar ataxia, and peripheral neuropathy. Other signs and symptoms may include an increase in the heart muscle size (hypertrophic cardiomyopathy); excessive body hair (hypertrichosis); anemia; kidney or liver problems; and lung or heart failure. Nuclear gene-encoded Leigh syndrome (and Leigh-like syndrome, a term used for cases with similar features but that do not fulfill the diagnostic criteria for Leigh syndrome) may be caused by mutations in any of several genes and can be inherited in an autosomal recessive or X-linked manner. While treatment for some cases of Leigh-like syndrome may be available, management is generally supportive and focuses on the symptoms present.
Question: What is (are) Pili torti ?

Answer: Pili torti is a rare hair condition characterized by fragile hair. In pili torti hair has a flattened shaft with clusters of narrow twists at irregular intervals. Some cases may be inherited in autosomal dominant or autosomal recessive patterns, while others are acquired. In the inherited form, symptoms tend to be present from early childhood. It can occur alone or as part of other diseases like ectodermal dysplasias, Menke disease, Bjornstand syndrome, or Bazex syndrome. Acquired cases of pili torti may be associated with anorexia nervosa, malnutrition, oral retinoid treatment, or inflammatory scalp conditions (e.g., cutaneous lupus erythematousus). If pili torti is detected, it is necessary to investigate possible neurological disorders, hearing loss, and defects in the hair, nails, sweat glands and teeth. There is no specific treatment for this condition, but it may improve spontaneously after puberty. Click here to visit Medscape and view an image of a child with pili torti.
Question: What is (are) Neuroblastoma ?

Answer: Neuroblastoma is a tumor that develops from a nerve in a child, usually before the age of 5.  It occurs in the abdomen near the adrenal glands, but it can also occur in other parts of the body.  It is considered an aggressive tumor because it often spreads to other parts of the body (metastasizes).  The symptoms of a neuroblastoma may include a lump in the abdomen, pain, diarrhea, or generally feeling unwell.  It affects one out of 100,000 children.  The exact cause of this tumor is not yet known.  Neuroblastoma may be diagnosed by physical examination; specific blood tests; imaging tests such as x-rays, magnetic resonance imaging (MRI), or computed tomography (CT) scans; and a biopsy.  Treatment depends on the size and location of the tumor within the body, as well as the childs age. Surgery is often the first step of treatment, and may be followed by chemotherapy, radiation therapy, or a stem cell transplant in more severe cases.
Question: What is (are) Pulmonary alveolar microlithiasis ?

Answer: Pulmonary alveolar microlithiasis is a disorder in which tiny fragments (microliths) of calcium phosphate gradually accumulate in the small air sacs (alveoli) of the lungs. These deposits eventually cause widespread damage to the alveoli and surrounding lung tissue (interstitial lung disease). People with this disorder may also develop a persistent cough and difficulty breathing (dyspnea), especially during physical exertion. Chest pain that worsens when coughing, sneezing, or taking deep breaths is another common feature. People with pulmonary alveolar microlithiasis may also develop calcium phosphate deposits in other organs and tissue of the body. Though the  course of the disease can be variable, many cases slowly progress to lung fibrosis, respiratory failure, or cor pulmonale. The only effective therapy is lung transplantation. In some cases, pulmonary alveolar microlithiasis is caused by mutations in the SLC34A2 gene and inherited in an autosomal recessive manner.
Question: What causes Schindler disease type 1 ?

Answer: What causes Schindler disease type 1? Schindler disease type 1 is caused by mutations in the NAGA gene. This gene provides instructions for making the enzyme alpha-N-acetylgalactosaminidase.This enzyme works in the lysosomes  (compartments within cells that digest and recycle materials) to help break down complexes called glycoproteins and glycolipids (sugar molecules attached to certain proteins and fats). More specifically, alpha-N-acetylgalactosaminidase helps remove a molecule called alpha-N-acetylgalactosamine from sugars in these complexes. Mutations in the NAGA gene interfere with the ability of the alpha-N-acetylgalactosaminidase enzyme to perform its role in breaking down glycoproteins and glycoliipids. These substances accumulate in the lysosomes and cause cells to malfunction and eventually die. Cell damage in the nervous system and other tissues and organs of the body leads to the signs and symptoms of Schindler disease type 1.