umarjan11/Medical-qna huggingface dataset:
Question: What is (are) Amish lethal microcephaly ?

Answer: Amish lethal microcephaly is a disorder in which infants are born with a very small head and underdeveloped brain.  Infants with Amish lethal microcephaly have a sloping forehead and an extremely small head size. They may also have an unusually small lower jaw and chin (micrognathia) and an enlarged liver (hepatomegaly).  Affected infants may have seizures and difficulty maintaining their body temperature. Often they become very irritable starting in the second or third month of life. A compound called alpha-ketoglutaric acid can be detected in their urine (alpha-ketoglutaric aciduria), and during episodes of viral illness they tend to develop elevated levels of acid in the blood and tissues (metabolic acidosis). Infants with this disorder typically feed adequately but do not develop skills such as purposeful movement or the ability to track faces and sounds. Affected infants live only about six months.
Question: What are the genetic changes related to arginase deficiency ?

Answer: Mutations in the ARG1 gene cause arginase deficiency.  Arginase deficiency belongs to a class of genetic diseases called urea cycle disorders. The urea cycle is a sequence of reactions that occurs in liver cells. This cycle processes excess nitrogen, generated when protein is used by the body, to make a compound called urea that is excreted by the kidneys.  The ARG1 gene provides instructions for making an enzyme called arginase. This enzyme controls the final step of the urea cycle, which produces urea by removing nitrogen from arginine. In people with arginase deficiency, arginase is damaged or missing, and arginine is not broken down properly. As a result, urea cannot be produced normally, and excess nitrogen accumulates in the blood in the form of ammonia. The accumulation of ammonia and arginine are believed to cause the neurological problems and other signs and symptoms of arginase deficiency.
Question: Is neurofibromatosis type 2 inherited ?

Answer: Neurofibromatosis type 2 is considered to have an autosomal dominant pattern of inheritance. People with this condition are born with one mutated copy of the NF2 gene in each cell. In about half of cases, the altered gene is inherited from an affected parent. The remaining cases result from new mutations in the NF2 gene and occur in people with no history of the disorder in their family.  Unlike most other autosomal dominant conditions, in which one altered copy of a gene in each cell is sufficient to cause the disorder, two copies of the NF2 gene must be altered to trigger tumor formation in neurofibromatosis type 2. A mutation in the second copy of the NF2 gene occurs in Schwann cells or other cells in the nervous system during a person's lifetime. Almost everyone who is born with one NF2 mutation acquires a second mutation (known as a somatic mutation) in these cells and develops the tumors characteristic of neurofibromatosis type 2.
Question: What are the genetic changes related to Jervell and Lange-Nielsen syndrome ?

Answer: Mutations in the KCNE1 and KCNQ1 genes cause Jervell and Lange-Nielsen syndrome.  The KCNE1 and KCNQ1 genes provide instructions for making proteins that work together to form a channel across cell membranes. These channels transport positively charged potassium atoms (ions) out of cells. The movement of potassium ions through these channels is critical for maintaining the normal functions of inner ear structures and cardiac muscle.  About 90 percent of cases of Jervell and Lange-Nielsen syndrome are caused by mutations in the KCNQ1 gene; KCNE1 mutations are responsible for the remaining cases. Mutations in these genes alter the usual structure and function of potassium channels or prevent the assembly of normal channels. These changes disrupt the flow of potassium ions in the inner ear and in cardiac muscle, leading to hearing loss and an irregular heart rhythm characteristic of Jervell and Lange-Nielsen syndrome.
Question: What are the genetic changes related to Ochoa syndrome ?

Answer: Ochoa syndrome can be caused by mutations in the HPSE2 gene. This gene provides instructions for making a protein called heparanase 2. The function of this protein is not well understood.  Mutations in the HPSE2 gene that cause Ochoa syndrome result in changes in the heparanase 2 protein that likely prevent it from functioning. The connection between HPSE2 gene mutations and the features of Ochoa syndrome are unclear. Because the areas of the brain that control facial expression and urination are in close proximity, some researchers have suggested that the genetic changes may lead to an abnormality in this brain region that may account for the symptoms of Ochoa syndrome. Other researchers believe that a defective heparanase 2 protein may lead to problems with the development of the urinary tract or with muscle function in the face and bladder.  Some people with Ochoa syndrome do not have mutations in the HPSE2 gene. In these individuals, the cause of the disorder is unknown.
Question: What are the treatments for tetrahydrobiopterin deficiency ?

Answer: These resources address the diagnosis or management of tetrahydrobiopterin deficiency:  - Baby's First Test: Biopterin Defect in Cofactor Biosynthesis  - Baby's First Test: Biopterin Defect in Cofactor Regeneration  - Genetic Testing Registry: 6-pyruvoyl-tetrahydropterin synthase deficiency  - Genetic Testing Registry: Dihydropteridine reductase deficiency  - Genetic Testing Registry: GTP cyclohydrolase I deficiency  - Genetic Testing Registry: Hyperphenylalaninemia, BH4-deficient, D  - MedlinePlus Encyclopedia: Serum Phenylalanine Screening   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 aromatic l-amino acid decarboxylase deficiency ?

Answer: Mutations in the DDC gene cause AADC deficiency. The DDC gene provides instructions for making the AADC enzyme, which is important in the nervous system. This enzyme helps produce dopamine and serotonin from other molecules. Dopamine and serotonin are neurotransmitters, which are chemical messengers that transmit signals between nerve cells, both in the brain and spinal cord (central nervous system) and in other parts of the body (peripheral nervous system).  Mutations in the DDC gene result in reduced activity of the AADC enzyme. Without enough of this enzyme, nerve cells produce less dopamine and serotonin. Dopamine and serotonin are necessary for normal nervous system function, and changes in the levels of these neurotransmitters contribute to the developmental delay, intellectual disability, abnormal movements, and autonomic dysfunction seen in people with AADC deficiency.
Question: What are the genetic changes related to central core disease ?

Answer: Mutations in the RYR1 gene cause central core disease.  The RYR1 gene provides instructions for making a protein called ryanodine receptor 1. This protein plays an essential role in skeletal muscles. For the body to move normally, these muscles must tense (contract) and relax in a coordinated way. Muscle contractions are triggered by the flow of charged atoms (ions) into muscle cells. The ryanodine receptor 1 protein forms a channel that releases calcium ions stored within muscle cells. The resulting increase in calcium ion concentration inside muscle cells stimulates muscle fibers to contract, allowing the body to move.  Mutations in the RYR1 gene change the structure of ryanodine receptor 1, allowing calcium ions to "leak" through the abnormal channel or impairing the channel's ability to release stored calcium ions at the correct time. This disruption in calcium ion transport prevents muscles from contracting normally, leading to the muscle weakness characteristic of central core disease.
Question: What are the treatments for prostate cancer ?

Answer: These resources address the diagnosis or management of prostate cancer:  - American College of Radiology: Prostate Cancer Radiation Treatment  - Genetic Testing Registry: Familial prostate cancer  - Genetic Testing Registry: Prostate cancer, hereditary, 2  - MedlinePlus Encyclopedia: Prostate Brachytherapy  - MedlinePlus Encyclopedia: Prostate Cancer Staging  - MedlinePlus Encyclopedia: Prostate Cancer Treatment  - MedlinePlus Encyclopedia: Prostate-Specific Antigen (PSA) Blood Test  - MedlinePlus Encyclopedia: Radical Prostatectomy  - MedlinePlus Health Topic: Prostate Cancer Screening  - National Cancer Institute: Prostate-Specific Antigen (PSA) Test  - U.S. Preventive Services Task Force   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) Growth Failure in Children with Chronic Kidney Disease ?

Answer: Growth failure is a complication of CKD in which children do not grow as expected. When a child is below the third percentilemeaning 97 percent of children the same age and gender are tallerhe or she has growth failure.1 CKD is kidney disease that does not go away with treatment and tends to get worse over time.
                
Health care providers use charts to monitor the growth of children with CKD and look for signs of growth failure. Growth charts for children use percentiles to compare a particular childs height with the height of children the same age and gender. For example, a child whose height is at the 50th percentile on a growth chart means half the children in the United States are taller than that child and half the children are shorter.
                
About one-third of children with CKD have growth failure.1 Children diagnosed with CKD at a younger age
                
- have a higher chance of developing growth failure  - have more health issues related to growth failure and CKD
Question: What causes IgA Nephropathy ?

Answer: Scientists think that IgA nephropathy is an autoimmune kidney disease, meaning that the disease is due to the bodys immune system harming the kidneys.
                
People with IgA nephropathy have an increased blood level of IgA that contains less of a special sugar, galactose, than normal. This galactose-deficient IgA is considered foreign by other antibodies circulating in the blood. As a result, these other antibodies attach to the galactose-deficient IgA and form a clump. This clump is also called an immune complex. Some of the clumps become stuck in the glomerulus of the nephron and cause inflammation and damage.
                
For some people, IgA nephropathy runs in families. Scientists have recently found several genetic markers that may play a role in the development of the disease. IgA nephropathy may also be related to respiratory or intestinal infections and the immune systems response to these infections.
Question: What are the symptoms of Hemorrhoids ?

Answer: The most common symptom of internal hemorrhoids is bright red blood on stool, on toilet paper, or in the toilet bowl after a bowel movement. Internal hemorrhoids that are not prolapsed are usually not painful. Prolapsed hemorrhoids often cause pain, discomfort, and anal itching.
                
Blood clots may form in external hemorrhoids. A blood clot in a vein is called a thrombosis. Thrombosed external hemorrhoids cause bleeding, painful swelling, or a hard lump around the anus. When the blood clot dissolves, extra skin is left behind. This skin can become irritated or itch.
                
Excessive straining, rubbing, or cleaning around the anus may make symptoms, such as itching and irritation, worse.
                
Hemorrhoids are not dangerous or life threatening. Symptoms usually go away within a few days, and some people with hemorrhoids never have symptoms.
Question: What are the complications of Kidney Dysplasia ?

Answer: The complications of kidney dysplasia can include
                
- hydronephrosis of the working kidney. A baby with kidney dysplasia in only one kidney might have other urinary tract defects. When other defects in the urinary tract block the flow of urine, the urine backs up and causes the kidneys and ureters to swell, a condition called hydronephrosis. If left untreated, hydronephrosis can damage the working kidney and reduce its ability to filter blood. Kidney damage may lead to chronic kidney disease (CKD) and kidney failure.  - a urinary tract infection (UTI). A urine blockage may increase a babys chance of developing a UTI. Recurring UTIs can also lead to kidney damage.  - high blood pressure.  - a slightly increased chance of developing kidney cancer.
                
More information is provided in the NIDDK health topics, urine blockage in newbornsand UTIs in children.
Question: What are the symptoms of Childhood Central Nervous System Embryonal Tumors ?

Answer: Signs and symptoms of childhood CNS embryonal tumors or pineoblastomas depend on the child's age and where the tumor is. These and other signs and symptoms may be caused by childhood CNS embryonal tumors, pineoblastomas, or other conditions. Check with your child's doctor if your child has any of the following:         - Loss of balance, trouble walking, worsening handwriting, or slow speech.    - Lack of coordination.    - Headache, especially in the morning, or headache that goes away after vomiting.    - Double vision or other eye problems.    -  Nausea and vomiting.    - General weakness or weakness on one side of the face.    - Unusual sleepiness or change in energy level.    -  Seizures.        Infants and young children with these tumors may be irritable or grow slowly. Also they may not eat well or meet developmental milestones such as sitting, walking, and talking in sentences.
Question: How to diagnose Skin Cancer ?

Answer: Tests or procedures that examine the skin are used to detect (find) and diagnose nonmelanoma skin cancer and actinic keratosis. The following procedures may be used:         -  Skin exam: A doctor or nurse checks the skin for bumps or spots that look abnormal in color, size, shape, or texture.    -  Skin biopsy : All or part of the abnormal-looking growth is cut from the skin and viewed under a microscope by a pathologist to check for signs of cancer. There are four main types of skin biopsies:               -  Shave biopsy : A sterile razor blade is used to shave-off the abnormal-looking growth.      -  Punch biopsy : A special instrument called a punch or a trephine is used to remove a circle of tissue from the abnormal-looking growth.      -  Incisional biopsy : A scalpel is used to remove part of a growth.      -  Excisional biopsy : A scalpel is used to remove the entire growth.
Question: What are the symptoms of Paranasal Sinus and Nasal Cavity Cancer ?

Answer: Signs of paranasal sinus and nasal cavity cancer include sinus problems and nosebleeds. These and other signs and symptoms may be caused by paranasal sinus and nasal cavity cancer or by other conditions. There may be no signs or symptoms in the early stages. Signs and symptoms may appear as the tumor grows. Check with your doctor if you have any of the following:         - Blocked sinuses that do not clear, or sinus pressure.    - Headaches or pain in the sinus areas.    - A runny nose.    - Nosebleeds.    - A lump or sore inside the nose that does not heal.    - A lump on the face or roof of the mouth.    - Numbness or tingling in the face.    - Swelling or other trouble with the eyes, such as double vision or the eyes pointing in different directions.    - Pain in the upper teeth, loose teeth, or dentures that no longer fit well.    - Pain or pressure in the ear.
Question: Do you have information about Newborn Screening

Answer: Summary : Your newborn infant has screening tests before leaving the hospital. There may be different tests depending on the state where you live. They include       - Tests on a few drops of blood from pricking the baby's heel. The tests look for inherited disorders. All states test for at least 30 of these conditions.    - A hearing test that measures the baby's response to sound    - A skin test that measures the level of oxygen in the blood. This can tell if the baby has a congenital heart defect.       These tests look for serious medical conditions. If not treated, some of these conditions can cause lifelong health problems. Others can cause early death. With early diagnosis, treatment can begin right away, before serious problems can occur or become permanent.    If a screening shows that your baby might have a condition, the health care provider or the state health department will call you. It is important to follow up quickly. Further testing can verify whether your baby has the condition. If so, treatment should start right away.     NIH: National Institute of Child Health and Human Development
Question: What is (are) Endocrine Diseases ?

Answer: Your endocrine system includes eight major glands throughout your body. These glands make hormones. Hormones are chemical messengers. They travel through your bloodstream to tissues or organs. Hormones work slowly and affect body processes from head to toe. These include       - Growth and development    - Metabolism - digestion, elimination, breathing, blood circulation and maintaining body temperature     - Sexual function    - Reproduction    - Mood       If your hormone levels are too high or too low, you may have a hormone disorder. Hormone diseases also occur if your body does not respond to hormones the way it is supposed to. Stress, infection and changes in your blood's fluid and electrolyte balance can also influence hormone levels.    In the United States, the most common endocrine disease is diabetes. There are many others. They are usually treated by controlling how much hormone your body makes. Hormone supplements can help if the problem is too little of a hormone.
Question: What is (are) Stuttering ?

Answer: Stuttering is a problem that affects the flow of your speech. If you stutter, you may        -  Make certain words sound longer than they should be    -  Find it hard to start a new word     -  Repeat words or parts of words     -  Get tense when you try to speak. You may blink your eyes rapidly, or your lips and jaw may tremble as you struggle to get the words out.       Stuttering can affect anyone. It is most common in young children who are still learning to speak. Boys are three times more likely to stutter than girls. Most children stop stuttering as they grow older. Less than 1 percent of adults stutter.    Scientists don't fully understand why some people stutter. The problem seems to run in families. There is no cure, but treatments can help. They include stuttering therapy, electronic devices, and self-help groups. Starting stuttering therapy early for young children can keep it from becoming a lifelong problem.     NIH: National Institute on Deafness and Other Communication Disorders
Question: What is (are) Nausea and Vomiting ?

Answer: Nausea is an uneasy or unsettled feeling in the stomach together with an urge to vomit. Nausea and vomiting, or throwing up, are not diseases. They can be symptoms of many different conditions. These include morning sickness during pregnancy, infections, migraine headaches, motion sickness, food poisoning, cancer chemotherapy or other medicines.     For vomiting in children and adults, avoid solid foods until vomiting has stopped for at least six hours. Then work back to a normal diet. Drink small amounts of clear liquids to avoid dehydration.    Nausea and vomiting are common. Usually, they are not serious. You should see a doctor immediately if you suspect poisoning or if you have       - Vomited for longer than 24 hours    -  Blood in the vomit    -  Severe abdominal pain     -  Headache and stiff neck     -  Signs of dehydration, such as dry mouth, infrequent urination or dark urine
Question: Do you have information about Cholesterol

Answer: Summary : Cholesterol is a waxy, fat-like substance that occurs naturally in all parts of the body. Your body needs some cholesterol to work properly. But if you have too much in your blood, it can combine with other substances in the blood and stick to the walls of your arteries. This is called plaque. Plaque can narrow your arteries or even block them.    High levels of cholesterol in the blood can increase your risk of heart disease. Your cholesterol levels tend to rise as you get older. There are usually no signs or symptoms that you have high blood cholesterol, but it can be detected with a blood test. You are likely to have high cholesterol if members of your family have it, if you are overweight or if you eat a lot of fatty foods.    You can lower your cholesterol by exercising more and eating more fruits and vegetables. You also may need to take medicine to lower your cholesterol.    NIH: National Heart, Lung, and Blood Institute
Question: What is (are) After Surgery ?

Answer: After any operation, you'll have some side effects. There is usually some pain with surgery. There may also be swelling and soreness around the area that the surgeon cut. Your surgeon can tell you which side effects to expect.    There can also be complications. These are unplanned events linked to the operation. Some complications are infection, too much bleeding, reaction to anesthesia, or accidental injury. Some people have a greater risk of complications because of other medical conditions.    Your surgeon can tell you how you might feel and what you will be able to do - or not do - the first few days, weeks, or months after surgery. Some other questions to ask are       - How long you will be in the hospital    - What kind of supplies, equipment, and help you might need when you go home    - When you can go back to work    - When it is ok to start exercising again    - Are they any other restrictions in your activities       Following your surgeon's advice can help you recover as soon as possible.    Agency for Healthcare Quality and Research
Question: What is (are) Adrenal Gland Cancer ?

Answer: Your adrenal, or suprarenal, glands are located on the top of each kidney. These glands produce hormones that you can't live without, including sex hormones and cortisol, which helps you respond to stress and has many other functions.    A number of disorders can affect the adrenal glands, including tumors. Tumors can be either benign or malignant. Benign tumors aren't cancer. Malignant ones are. Most adrenal gland tumors are benign. They usually do not cause symptoms and may not require treatment. Malignant adrenal gland cancers are uncommon.    Types of tumors include       - Adrenocortical carcinoma - cancer in the outer part of the gland    - Neuroblastoma, a type of childhood cancer    - Pheochromocytoma - a rare tumor that is usually benign       Symptoms depend on the type of cancer you have. Treatments may include surgery, chemotherapy, or radiation therapy.
Question: Do you have information about Prenatal Testing

Answer: Summary : Prenatal testing provides information about your baby's health before he or she is born. Some routine tests during pregnancy also check on your health. At your first prenatal visit, your healthcare provider will test for a number of things, including problems with your blood, signs of infections, and whether you are immune to rubella (German measles) and chickenpox.    Throughout your pregnancy, your healthcare provider may suggest a number of other tests, too. Some tests are suggested for all women, such as screenings for gestational diabetes, Down syndrome, and HIV. Other tests might be offered based on your:       - Age    - Personal or family health history    - Ethnic background    - Results of routine tests       Some tests are screening tests. They detect risks for or signs of possible health problems in you or your baby. Based on screening test results, your doctor might suggest diagnostic tests. Diagnostic tests confirm or rule out health problems in you or your baby.     Dept. of Health and Human Services Office on Women's Health