umarjan11/Medical-qna huggingface dataset:
Question: What is (are) Cancer in Children ?

Answer: Cancer begins in the cells, which are the building blocks of your body. Normally, new cells form as you need them, replacing old cells that die. Sometimes, this process goes wrong. New cells form when you don't need them, and old cells don't die when they should. The extra cells can form a tumor. Benign tumors aren't cancer while malignant ones are. Malignant tumor cells can invade nearby tissues or break away and spread to other parts of the body.     Children can get cancer in the same parts of the body as adults, but there are differences. Childhood cancers can occur suddenly, without early symptoms, and have a high rate of cure. The most common children's cancer is leukemia. Other cancers that affect children include brain tumors, lymphoma, and soft tissue sarcoma. Symptoms and treatment depend on the cancer type and how advanced it is. Treatment may include surgery, radiation and/or chemotherapy.     NIH: National Cancer Institute
Question: What is (are) Pulmonary Embolism ?

Answer: A pulmonary embolism is a sudden blockage in a lung artery. The cause is usually a blood clot in the leg called a deep vein thrombosis that breaks loose and travels through the bloodstream to the lung. Pulmonary embolism is a serious condition that can cause       - Permanent damage to the affected lung     - Low oxygen levels in your blood     - Damage to other organs in your body from not getting enough oxygen        If a clot is large, or if there are many clots, pulmonary embolism can cause death.     Half the people who have pulmonary embolism have no symptoms. If you do have symptoms, they can include shortness of breath, chest pain or coughing up blood. Symptoms of a blood clot include warmth, swelling, pain, tenderness and redness of the leg. The goal of treatment is to break up clots and help keep other clots from forming.     NIH: National Heart, Lung, and Blood Institute
Question: Do you have information about Health Fraud

Answer: Summary : Health fraud involves selling drugs, devices, foods, or cosmetics that have not been proven effective. Keep in mind - if it sounds too good to be true, it's probably a scam. At best, these scams don't work. At worst, they're dangerous. They also waste money, and they might keep you from getting the treatment you really need.    Health fraud scams can be found everywhere, promising help for many common health issues, including weight loss, memory loss, sexual performance, and joint pain. They target people with serious conditions like cancer, diabetes, heart disease, HIV/AIDS, arthritis, Alzheimer's, and many more.    To protect yourself, recognize the red flags such as:       - Miracle cure    - Quick fix    - Ancient remedy    - Secret ingredient    - Scientific breakthrough       Before taking an unproven or little known treatment, talk to a doctor or health care professional - especially when taking prescription drugs.    Food and Drug Administration
Question: What is (are) Hereditary leiomyomatosis and renal cell cancer ?

Answer: Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a condition that causes benign tumors of smooth muscle tissue in the skin (cutaneous leiomyomas) and in the uterus in females (uterine leiomyomas, or fibroids). The condition also increases the risk of kidney cancer. Signs and symptoms usually begin in adulthood as skin growths appear on the torso, arms, legs, and occasionally on the face. They tend to increase in size and number over time. About 10% to 16% of people with HLRCC develop a type of kidney cancer called renal cell cancer; symptoms of this cancer may include lower back pain, blood in the urine, and/or a mass in the kidney that can be felt by a physician. Some people have no symptoms until the cancer is advanced. HLRCC is caused by mutations in the FH gene and is inherited in an autosomal dominant manner.
Question: What are the treatments for Acute respiratory distress syndrome ?

Answer: How might acute respiratory distress syndrome (ARDS) be treated? Typically people with ARDS need to be in an intensive care unit (ICU). The goal of treatment is to provide breathing support and treat the cause of ARDS. This may involve medications to treat infections, reduce inflammation, and remove fluid from the lungs. A breathing machine is used to deliver high doses of oxygen and continued pressure called PEEP (positive end-expiratory pressure) to the damaged lungs. Patients often need to be deeply sedated with medications when using this equipment. Some research suggests that giving medications to temporarily paralyze a person with ARDS will increase the chance of recovery. Treatment continues until the patient is well enough to breathe on his/her own. More detailed information about the treatment of ARDS can be accessed through the National Heart, Lung and Blood Institute (NHLBI) and Medscape Reference.  An article detailing Oxygen Therapy is also available.
Question: What is (are) Empty sella syndrome ?

Answer: Empty sella syndrome (ESS) is a condition that involves the sella turcica, a bony structure at the base of the brain that protects the pituitary gland. There is a primary and secondary form of the condition. The primary form occurs when a structural defect above the pituitary gland increases pressure in the sella turcica and causes the gland to flatten. The secondary form occurs when the pituitary gland is damaged due to injury, a tumor, surgery or radiation therapy. Some people with ESS have no symptoms. People with secondary ESS may have symptoms of decreased pituitary function such as absence of menstruation, infertility, fatigue, and intolerance to stress and infection. In children, ESS may be associated with early onset of puberty, growth hormone deficiency, pituitary tumors, or pituitary gland dysfunction. Treatment focuses on the symptoms present in each person.
Question: What is (are) Achondrogenesis type 2 ?

Answer: Achondrogenesis is a group of severe disorders that are present from birth and affect the development of cartilage and bone. Infants with achondrogenesis usually have a small body, short arms and legs, and other skeletal abnormalities that cause life-threatening complications.  There are at least three forms of achondrogenesis, type 1A, type 1B and type 2, which are distinguished by signs and symptoms, pattern of inheritance, and the results of imaging studies such as x-rays (radiology), tissue analysis (histology), and genetic testing.  Type 1A and 1B achondrogenesis are both inherited in an autosomal recessive pattern.  Type 1B may be caused by mutations in the SLC26A2 gene.  Type 2 achondrogenesis is inherited in an autosomal dominant pattern and is caused by new (de novo) mutations in the COL2A1 gene.
Question: What is (are) Myxopapillary ependymoma ?

Answer: Myxopapillary ependymoma (MEPN) is a slow-growing ependymoma (a type of glioma, which is a tumor that arises from the supportive tissue of the brain). They tend to occur in the lower part of the spinal column and are usually considered to be benign, low-grade or grade I tumors. The age of diagnosis ranges from 6 to 82 years. Symptoms of an ependymoma are related to the location and size of the tumor and may include nausea, vomiting, headache, pain, numbness, bowel or bladder symptoms, and various other signs and symptoms. The cause of ependymomas is unknown. They are known to recur locally (more commonly in individuals diagnosed in childhood). Treatment may vary depending on the location, grade, and whether the tumor has spread to the spine, but typically includes aggressive surgery. Management may also include chemotherapy and radiation therapy.
Question: What causes Alpha-1 antitrypsin deficiency ?

Answer: What causes alpha-1 antitrypsin deficiency? Alpha-1 antitrypsin deficiency (AATD) is caused by mutations in the SERPINA1 gene. This gene gives the body instructions to make a protein called alpha-1 antitrypsin (AAT), which protects the body from an enzyme called neutrophil elastase. Neutrophil elastase helps the body fight infections, but it can also attack healthy tissues (especially the lungs) if not controlled by AAT. Mutations that cause AAT can cause a deficiency or absence of AAT, or a form of AAT that does not work well. This allows neutrophil elastase to destroy lung tissue, causing lung disease. In addition, abnormal AAT can build up in the liver and cause damage to the liver. The severity of AATD may also be worsened by environmental factors such as exposure to tobacco smoke, dust, and chemicals.
Question: How to diagnose Alpha-1 antitrypsin deficiency ?

Answer: How is alpha-1 antitrypsin deficiency diagnosed? Alpha-1 antitrypsin deficiency (AATD) may first be suspected in people with evidence of liver disease at any age, or lung disease (such as emphysema), especially when there is no obvious cause or it is diagnosed at a younger age. Confirming the diagnosis involves a blood test showing a low serum concentration of the alpha-1 antitrypsin (AAT) protein, and either: detecting a functionally deficient AAT protein variant by isoelectric focusing (a method for detecting mutations); or detecting SERPINA1 gene mutations on both copies of the gene with molecular genetic testing. (This confirms the diagnosis when the above-mentioned tests are not performed or their results are not in agreement.) Specialists involved in the diagnosis may include primary care doctors, pulmonologists (lung specialists), and/or hepatologists (liver specialists).
Question: What is (are) Autoimmune autonomic ganglionopathy ?

Answer: Autoimmune autonomic ganglionopathy (AAG) is rare autoimmune disorder in which the body's immune system mistakenly attacks and damages certain parts of the autonomic nervous system. Signs and symptoms of the condition vary but may include severe orthostatic hypotension (low blood pressure upon standing); fainting; constipation; fixed and dilated pupils; urinary retention; and/or dry mouth and eyes. The exact underlying cause of AAG is poorly understood. Treatment depends on many factors including the severity of the condition and the signs and symptoms present in each person. Due to the rarity of AAG, there are no standard treatment protocols; however, treatment with plasmapheresis, intravenous (IV) immunoglobulin, corticosteroids or immunosuppressive drugs has been reported with variable success. Approximately one third of affected people may improve spontaneously without treatment, but the recovery is often incomplete.
Question: What is (are) Epithelioid sarcoma ?

Answer: Epithelioid sarcoma is a rare cancer that most often occurs in the soft tissue of the fingers, hands and forearms of young adults.  It may also be found in the legs, trunk, head or neck regions.  It is rare in young children and adults, and it occurs more frequently in men.  Epithelioid sarcoma begins as a painless, firm growth or bump that may be accompanied by an open wound (ulceration) in the skin covering the growth.  It is considered an aggressive cancer because it has a high chance of regrowing after treatment (a recurrence), or spreading to surrounding tissues or more distant parts of the body (a metastasis).  Epithelioid sarcoma is first treated with surgery to remove all the cancer cells (wide local excision).  Amputation of part of the affected limb may be needed in severe cases.  Radiation therapy or chemotherapy may also be used to destroy any cancer cells not removed during surgery.
Question: What causes 47, XYY syndrome ?

Answer: What causes 47, XYY syndrome? 47,XYY syndrome is caused by the presence of an extra copy of the Y chromosome in each of a male's cells. This is typically due to a random event during the formation of a sperm cell in the father, usually before conception (fertilization of the egg). In this case, the father's two Y chromosomes do not separate when sperm cells are being made. If two Y chromosomes are present in a sperm that fertilizes an egg (with an X chromosome), the resulting embryo will be a male with an extra Y chromosome. It is also possible that a similar random event could occur very early in an embryo's development. It is not fully understood why an extra copy of the Y chromosome leads to an increased risk for the features associated with 47, XYY syndrome in some males. Importantly, there is nothing either parent can do (or not do) to cause or prevent 47, XYY syndrome.
Question: What is (are) Myotonic dystrophy type 1 ?

Answer: Myotonic dystrophy type 1, one of the two types of myotonic dystrophy, is an inherited type of muscular dystrophy that affects the muscles and other body systems (e.g., heart, eyes, pancreas).  Myotonic dystrophy type 1 has been categorized into three somewhat overlapping subtypes: mild, classic, and congenital (present at birth). Symptoms of the mild form are the least severe with a normal life span. The classic form is characterized by muscle weakness and wasting, prolonged muscle tensing (myotonia), cataract, and often abnormal heart function; adults may become physically disabled and may have a shortened life span. The congenital form is characterized by severe generalized weakeness at birth (hypotonia), often causing complications with breathing and early death. The condition is inherited in an autosomal dominant pattern and is caused by mutations in the DMPK gene.
Question: Is Nonspherocytic hemolytic anemia due to hexokinase deficiency inherited ?

Answer: How is nonspherocytic hemolytic anemia due to hexokinase deficiency inherited? Nonspherocytic hemolytic anemia due to hexokinase deficiency is inherited in an autosomal recessive manner. This means that a mutation in both copies of the gene associated with the condition must be present in order to be affected. The parents of an individual with an autosomal recessive condition each have one mutated copy of the gene in each cell and are referred to as carriers. Carriers typically do not have any signs or symptoms of the condition. When two carriers of the same autosomal recessive condition have children, each child has a 25% (1 in 4) risk to be affected, a 50% (1 in 2) risk to be an unaffected carrier like each parent, and a 25% risk to be unaffected and have 2 normal copies of the gene.
Question: What is (are) Charcot-Marie-Tooth disease ?

Answer: Charcot-Marie-Tooth disease is a group of disorders that affect the peripheral nerves, the nerves running from outside the brain and spine. Defects in many different genes cause different forms of this disease. Common symptoms may include foot drop, foot deformity, loss of lower leg muscle, numbness in the foot or leg, slapping" gait (feet hit the floor hard when walking), and weakness of the hips, legs, or feet. There is currently no cure for Charcot-Marie-Tooth disease, but physical therapy, occupational therapy, braces and other orthopedic devices, pain medication, and orthopedic surgery can help manage and improve symptoms. There are over 40 types of Charcot-Marie-Tooth disease. You can search for more information on a particular type of Charcot-Marie-Tooth disease from the GARD Home page. Enter the name of the condition in the GARD search box, and then select the type from the drop down menu.
Question: What is (are) Hereditary mucoepithelial dysplasia ?

Answer: Hereditary mucoepithelial dysplasia (HMD) is a condition that affects the skin, hair, mucosa (areas of the body that are lined with mucus), gums (gingiva), eyes, nose and lungs. Symptoms typically begin in infancy and may include development of cataracts (clouding of the eye lens); blindness; hair loss (alopecia); abnormal changes to the perineum (the area between the anus and external genitalia); and small, skin-colored bumps (keratosis pilaris). Terminal lung disease has also been reported. The cause of HMD is thought to be an abnormality in desmosomes and gap junctions, which are structures involved in cell-to-cell contact. HMD typically follows autosomal dominant inheritance, but has occurred sporadically (in an individual who has no family history of the condition). Treatment typically focuses on individual symptoms of the condition.
Question: What is (are) Machado-Joseph Disease ?

Answer: Machado-Joseph disease (MJD), which is also called spinocerebellar ataxia type 3, is a rare hereditary ataxia (ataxia is a medical term meaning lack of muscle control). The disease is characterized by slowly progressive clumsiness and weakness in the arms and legs, spasticity, a staggering lurching gait easily mistaken for drunkenness, difficulty with speech and swallowing, involuntary eye movements, double vision, and frequent urination. Some individuals also have dystonia (sustained muscle contractions that cause twisting of the body and limbs, repetitive movements, abnormal postures, and rigidity) or symptoms similar to those of Parkinson's disease. Others have twitching of the face or tongue, or peculiar bulging eyes. Almost all individuals with MJD experience vision problems, including double vision or blurred vision, loss of the ability to distinguish color and/or contrast, and inability to control eye movements.
Question: What are the treatments for factor V Leiden thrombophilia ?

Answer: These resources address the diagnosis or management of factor V Leiden thrombophilia:  - American College of Medical Genetics Consensus Statement on Factor V Leiden Mutation Testing  - Gene Review: Gene Review: Factor V Leiden Thrombophilia  - GeneFacts: Factor V Leiden-Associated Thrombosis: Diagnosis  - GeneFacts: Factor V Leiden-Associated Thrombosis: Management  - Genetic Testing Registry: Thrombophilia due to activated protein C resistance  - Genetic Testing Registry: Thrombophilia due to factor V Leiden  - MedlinePlus Encyclopedia: Deep Venous Thrombosis  - MedlinePlus Encyclopedia: Pulmonary Embolus   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 Alzheimer disease ?

Answer: These resources address the diagnosis or management of Alzheimer disease:  - Alzheimer's Disease Research Center, Washington University School of Medicine  - Gene Review: Gene Review: Alzheimer Disease Overview  - Gene Review: Gene Review: Early-Onset Familial Alzheimer Disease  - Genetic Testing Registry: Alzheimer disease 2  - Genetic Testing Registry: Alzheimer disease, type 3  - Genetic Testing Registry: Alzheimer disease, type 4  - Genetic Testing Registry: Alzheimer's disease  - MedlinePlus Encyclopedia: Alzheimer's Disease  - Michigan Alzheimer's Disease Research Center  - University of California Davis Alzheimer's Disease Center   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) hypochromic microcytic anemia with iron overload ?

Answer: Hypochromic microcytic anemia with iron overload is a condition that impairs the normal transport of iron in cells. Iron is an essential component of hemoglobin, which is the substance that red blood cells use to carry oxygen to cells and tissues throughout the body. In this condition, red blood cells cannot access iron in the blood, so there is a decrease of red blood cell production (anemia) that is apparent at birth. The red blood cells that are produced are abnormally small (microcytic) and pale (hypochromic). Hypochromic microcytic anemia with iron overload can lead to pale skin (pallor), tiredness (fatigue), and slow growth.  In hypochromic microcytic anemia with iron overload, the iron that is not used by red blood cells accumulates in the liver, which can impair its function over time. The liver problems typically become apparent in adolescence or early adulthood.
Question: What are the treatments for juvenile myoclonic epilepsy ?

Answer: These resources address the diagnosis or management of juvenile myoclonic epilepsy:  - Genetic Testing Registry: Epilepsy with grand mal seizures on awakening  - Genetic Testing Registry: Epilepsy, idiopathic generalized 10  - Genetic Testing Registry: Epilepsy, idiopathic generalized 9  - Genetic Testing Registry: Epilepsy, juvenile myoclonic 5  - Genetic Testing Registry: Epilepsy, juvenile myoclonic 9  - Genetic Testing Registry: Juvenile myoclonic epilepsy  - Merck Manual Consumer Version: Seizure Disorders   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 Pendred syndrome ?

Answer: Mutations in the SLC26A4 gene cause about half of all cases of Pendred syndrome. The SLC26A4 gene provides instructions for making a protein called pendrin. This protein transports negatively charged particles (ions), including chloride, iodide, and bicarbonate, into and out of cells. Although the function of pendrin is not fully understood, this protein is important for maintaining the proper levels of ions in the thyroid and the inner ear. Mutations in the SLC26A4 gene alter the structure or function of pendrin, which disrupts ion transport. An imbalance of particular ions disrupts the development and function of the thyroid gland and structures in the inner ear, which leads to the characteristic features of Pendred syndrome.  In people with Pendred syndrome who do not have mutations in the SLC26A4 gene, the cause of the condition is unknown. Researchers suspect that other genetic and environmental factors may influence the condition.
Question: What are the genetic changes related to 2-methylbutyryl-CoA dehydrogenase deficiency ?

Answer: Mutations in the ACADSB gene cause 2-methylbutyryl-CoA dehydrogenase deficiency.  The ACADSB gene provides instructions for making an enzyme called 2-methylbutyryl-CoA dehydrogenase that helps process the amino acid isoleucine. Mutations in the ACADSB gene reduce or eliminate the activity of this enzyme. With a shortage (deficiency) of 2-methylbutyryl-CoA dehydrogenase, the body is unable to break down isoleucine properly. As a result, isoleucine is not converted to energy, which can lead to characteristic features of this disorder, such as lethargy and muscle weakness. Also, an organic acid called 2-methylbutyrylglycine and related compounds may build up to harmful levels, causing serious health problems.
Question: How to diagnose Prolactinoma ?

Answer: A doctor will test for prolactin blood levels in women with unexplained milk secretion, called galactorrhea, or with irregular menses or infertility and in men with impaired sexual function and, in rare cases, milk secretion. If prolactin levels are high, a doctor will test thyroid function and ask first about other conditions and medications known to raise prolactin secretion. The doctor may also request magnetic resonance imaging (MRI), which is the most sensitive test for detecting pituitary tumors and determining their size. MRI scans may be repeated periodically to assess tumor progression and the effects of therapy. Computerized tomography (CT) scan also gives an image of the pituitary but is less precise than the MRI.
                
The doctor will also look for damage to surrounding tissues and perform tests to assess whether production of other pituitary hormones is normal. Depending on the size of the tumor, the doctor may request an eye exam with measurement of visual fields.