umarjan11/Medical-qna huggingface dataset:
Question: What are the genetic changes related to lattice corneal dystrophy type I ?

Answer: Lattice corneal dystrophy type I is caused by mutations in the TGFBI gene. This gene provides instructions for making a protein that is found in many tissues throughout the body, including the cornea. The TGFBI protein is part of the extracellular matrix, an intricate network that forms in the spaces between cells and provides structural support to tissues. The protein is thought to play a role in the attachment of cells to one another (cell adhesion) and cell movement (migration).  The TGFBI gene mutations involved in lattice corneal dystrophy type I change single protein building blocks (amino acids) in the TGFBI protein. Mutated TGFBI proteins abnormally clump together and form amyloid deposits. However, it is unclear how the changes caused by the gene mutations induce the protein to form deposits.
Question: How many people are affected by type 1 diabetes ?

Answer: Type 1 diabetes occurs in 10 to 20 per 100,000 people per year in the United States. By age 18, approximately 1 in 300 people in the United States develop type 1 diabetes. The disorder occurs with similar frequencies in Europe, the United Kingdom, Canada, and New Zealand. Type 1 diabetes occurs much less frequently in Asia and South America, with reported incidences as low as 1 in 1 million per year. For unknown reasons, during the past 20 years the worldwide incidence of type 1 diabetes has been increasing by 2 to 5 percent each year.  Type 1 diabetes accounts for 5 to 10 percent of cases of diabetes worldwide. Most people with diabetes have type 2 diabetes, in which the body continues to produce insulin but becomes less able to use it.
Question: What are the treatments for moyamoya disease ?

Answer: These resources address the diagnosis or management of moyamoya disease:  - Barrow Neurological Institute: What Medical Therapies Are Used To Treat Moyamoya Disease?  - Boston Children's Hospital: Learn More About Treatment for Moyamoya Disease  - Genetic Testing Registry: Moyamoya disease  - Genetic Testing Registry: Moyamoya disease 2  - Genetic Testing Registry: Moyamoya disease 3  - Genetic Testing Registry: Moyamoya disease 5  - National Institute of Neurological Disorders and Stroke: Moyamoya Disease Information Page   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: Is Menkes syndrome inherited ?

Answer: Menkes syndrome 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 about one-third of cases, Menkes syndrome is caused by new mutations in the ATP7A gene. People with a new mutation do not have a history of the disorder in their family.
Question: What are the treatments for nephrogenic diabetes insipidus ?

Answer: These resources address the diagnosis or management of nephrogenic diabetes insipidus:  - Gene Review: Gene Review: Nephrogenic Diabetes Insipidus  - Genetic Testing Registry: Nephrogenic diabetes insipidus  - Genetic Testing Registry: Nephrogenic diabetes insipidus, X-linked  - Genetic Testing Registry: Nephrogenic diabetes insipidus, autosomal  - MedlinePlus Encyclopedia: ADH  - MedlinePlus Encyclopedia: Diabetes Insipidus - Nephrogenic   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 cystinuria ?

Answer: Mutations in the SLC3A1 or SLC7A9 gene cause cystinuria. The SLC3A1 and SLC7A9 genes provide instructions for making the two parts (subunits) of a protein complex that is primarily found in the kidneys. Normally this protein complex controls the reabsorption of certain amino acids, including cystine, into the blood from the filtered fluid that will become urine. Mutations in either the SLC3A1 gene or SLC7A9 gene disrupt the ability of the protein complex to reabsorb amino acids, which causes the amino acids to become concentrated in the urine. As the levels of cystine in the urine increase, the crystals typical of cystinuria form. The other amino acids that are reabsorbed by the protein complex do not create crystals when they accumulate in the urine.
Question: What are the genetic changes related to Milroy disease ?

Answer: Mutations in the FLT4 gene cause some cases of Milroy disease. The FLT4 gene provides instructions for producing a protein called vascular endothelial growth factor receptor 3 (VEGFR-3), which regulates the development and maintenance of the lymphatic system. Mutations in the FLT4 gene interfere with the growth, movement, and survival of cells that line the lymphatic vessels (lymphatic endothelial cells). These mutations lead to the development of small or absent lymphatic vessels. If lymph fluid is not properly transported, it builds up in the body's tissues and causes lymphedema. It is not known how mutations in the FLT4 gene lead to the other features of this disorder.  Many individuals with Milroy disease do not have a mutation in the FLT4 gene. In these individuals, the cause of the disorder is unknown.
Question: What are the treatments for progressive familial heart block ?

Answer: These resources address the diagnosis or management of progressive familial heart block:  - American Heart Association: Common Tests for Arrhythmia  - Genetic Testing Registry: Progressive familial heart block type 1A  - Genetic Testing Registry: Progressive familial heart block type 1B  - Genetic Testing Registry: Progressive familial heart block type 2  - MedlinePlus Health Topic: Pacemakers and Implantable Defibrillators  - National Heart, Lung, and Blood Institute: How Does a Pacemaker Work?  - National Heart, Lung, and Blood Institute: How is Sudden Cardiac Arrest Diagnosed?   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 Ollier disease ?

Answer: In most people with Ollier disease, the disorder is caused by mutations in the IDH1 or IDH2 gene. These genes provide instructions for making enzymes called isocitrate dehydrogenase 1 and isocitrate dehydrogenase 2, respectively. These enzymes convert a compound called isocitrate to another compound called 2-ketoglutarate. This reaction also produces a molecule called NADPH, which is necessary for many cellular processes. IDH1 or IDH2 gene mutations cause the enzyme produced from the respective gene to take on a new, abnormal function. Although these mutations have been found in some cells of enchondromas in people with Ollier disease, the relationship between the mutations and the signs and symptoms of the disorder is not well understood.  Mutations in other genes may also account for some cases of Ollier disease.
Question: What are the treatments for 3-beta-hydroxysteroid dehydrogenase deficiency ?

Answer: These resources address the diagnosis or management of 3-beta-hydroxysteroid dehydrogenase deficiency:  - Genetic Testing Registry: 3 beta-Hydroxysteroid dehydrogenase deficiency  - Great Ormond Street Hospital for Children: Cortisol Deficiency  - MedlinePlus Encyclopedia: Ambiguous Genitalia  - MedlinePlus Encyclopedia: Congenital Adrenal Hyperplasia  - MedlinePlus Health Topic: Assisted Reproductive Technology  - National Institutes of Health Clinical Center: Managing Adrenal Insufficiency   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 causes Celiac Disease ?

Answer: Researchers do not know the exact cause of celiac disease. Celiac disease sometimes runs in families. In 50 percent of people who have celiac disease, a family member, when screened, also has the disease.1
                
A person's chances of developing celiac disease increase when his or her genestraits passed from parent to childhave variants, or changes. In celiac disease, certain gene variants and other factors, such as a person's exposure to things in his or her environment, can lead to celiac disease. Read more about genes and genetic conditions at www.ghr.nlm.nih.gov.
                
For most people, eating something with gluten is harmless. For others, an exposure to gluten can cause, or trigger, celiac disease to become active. Sometimes surgery, pregnancy, childbirth, a viral infection, or severe emotional stress can also trigger celiac disease symptoms.
Question: What are the symptoms of Urine Blockage in Newborns ?

Answer: Before leaving the hospital, a baby with urine blockage may urinate only small amounts or may not urinate at all. As part of the routine newborn exam, the health care provider may feel an enlarged kidney or find a closed urethra, which may indicate urine blockage. Sometimes urine blockage is not apparent until a child develops symptoms of a urinary tract infection (UTI), including
                
- fever  - irritability  - not eating  - nausea  - diarrhea  - vomiting  - cloudy, dark, bloody, or foul-smelling urine  - urinating often
                
If these symptoms persist, the child should see a health care provider. A child 2 months of age or younger with a fever should see a health care provider immediately. The health care provider will ask for a urine sample to test for bacteria.
Question: Who is at risk for Childhood Extracranial Germ Cell Tumors? ?

Answer: Having certain inherited disorders can increase the risk of an extracranial germ cell tumor. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. Talk with your childs doctor if you think your child may be at risk.    Possible risk factors for extracranial germ cell tumors include the following:         - Having certain genetic syndromes:               -  Klinefelter syndrome may increase the risk of germ cell tumors in the mediastinum.      - Swyer syndrome may increase the risk of germ cell tumors in the testicles or ovaries.      - Turner syndrome may increase the risk of germ cell tumors in the ovaries.             - Having an undescended testicle may increase the risk of developing a testicular germ cell tumor.
Question: What is (are) Tendinitis ?

Answer: Tendons are flexible bands of tissue that connect muscles to bones. They help your muscles move your bones. Tendinitis is the severe swelling of a tendon.    Tendinitis usually happens after repeated injury to an area such as the wrist or ankle. It causes pain and soreness around a joint. Some common forms of tendinitis are named after the sports that increase their risk. They include tennis elbow, golfer's elbow, pitcher's shoulder, swimmer's shoulder, and jumper's knee.    Doctors diagnose tendinitis with your medical history, a physical exam, and imaging tests. The first step in treatment is to reduce pain and swelling. Rest, wrapping or elevating the affected area, and medicines can help. Ice is helpful for recent, severe injuries. Other treatments include ultrasound, physical therapy, steroid injections, and surgery.
Question: Do you have information about Infant and Newborn Development

Answer: Summary : When will my baby take his first step or say her first word? During their first year, babies start to develop skills they will use for the rest of their lives. The normal growth of babies can be broken down into the following areas:       - Gross motor - controlling the head, sitting, crawling, maybe even starting to walk    - Fine motor - holding a spoon, picking up a piece of cereal between thumb and finger    - Sensory - seeing, hearing, tasting, touching and smelling    - Language - starting to make sounds, learning some words, understanding what people say     - Social - the ability to play with family members and other children       Babies do not develop at the same rate. There is a wide range of what is considered "normal." Your baby may be ahead in some areas and slightly behind in others. If you are worried about possible delays, talk to your baby's health care provider.
Question: What is (are) Cartilage Disorders ?

Answer: Cartilage is the tough but flexible tissue that covers the ends of your bones at a joint. It also gives shape and support to other parts of your body, such as your ears, nose and windpipe. Healthy cartilage helps you move by allowing your bones to glide over each other. It also protects bones by preventing them from rubbing against each other.     Injured, inflamed, or damaged cartilage can cause symptoms such as pain and limited movement. It can also lead to joint damage and deformity. Causes of cartilage problems include        -  Tears and injuries, such as sports injuries    -  Genetic factors     -  Other disorders, such as some types of arthritis       Osteoarthritis results from breakdown of cartilage.    NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases
Question: What is (are) Scoliosis ?

Answer: Scoliosis causes a sideways curve of your backbone, or spine. These curves are often S- or C-shaped. Scoliosis is most common in late childhood and the early teens, when children grow fast. Girls are more likely to have it than boys. It can run in families. Symptoms include leaning to one side and having uneven shoulders and hips.    Doctors use your medical and family history, a physical exam, and imaging tests to diagnose scoliosis. Treatment depends on your age, how much more you're likely to grow, how much curving there is, and whether the curve is temporary or permanent. People with mild scoliosis might only need checkups to see if the curve is getting worse. Others might need to wear a brace or have surgery.     NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases
Question: What is (are) Developmental Disabilities ?

Answer: Developmental disabilities are severe, long-term problems. They may be physical, such as blindness. They may affect mental ability, such as learning disorders. Or the problem can be both physical and mental, such as Down syndrome. The problems are usually life-long, and can affect everyday living.     There are many causes of developmental disabilities, including       - Genetic or chromosome abnormalities. These cause conditions such as Down syndrome and Rett syndrome.    - Prenatal exposure to substances. Drinking alcohol when pregnant can cause fetal alcohol spectrum disorders.    - Certain viral infections during pregnancy    - Preterm birth       Often there is no cure, but treatment can help the symptoms. Treatments include physical, speech, and occupational therapy. Special education classes and psychological counseling can also help.    NIH: National Institute of Child Health and Human Development
Question: What is (are) Memory ?

Answer: Your mind works a lot like a computer. Your brain puts information it judges to be important into "files." When you remember something, you pull up a file. Memory doesn't always work perfectly. As people grow older, it may take longer to retrieve those files. Some adults joke about having a "senior moment."    It's normal to forget things once in awhile. We've all forgotten a name, where we put our keys, or if we locked the front door. Seniors who forget things more often than others their age may have mild cognitive impairment. Forgetting how to use the telephone or find your way home may be signs of a more serious problem. These include Alzheimer's disease or other types of dementia, stroke, depression, head injuries, thyroid problems, or reactions to certain medicines. If you're worried about your forgetfulness, see your doctor.    NIH: National Institute on Aging
Question: What is (are) Congenital sucrase-isomaltase deficiency ?

Answer: Congenital sucrase-isomaltase deficiency (CSID) is a genetic condition that affects a person's ability to digest certain sugars. People with this condition cannot break down the sugars sucrose (a sugar found in fruits, and also known as table sugar) and maltose (the sugar found in grains). CSID usually becomes apparent after an infant begins to consume fruits, juices, and grains. After ingestion of sucrose or maltose, an affected child will typically experience stomach cramps, bloating, excess gas production, and diarrhea. These digestive problems can lead to failure to thrive and malnutrition. Most affected children are better able to tolerate sucrose and maltose as they get older. CSID is inherited in an autosomal recessive pattern and is caused by mutations in the SI gene.
Question: Is Maternally inherited diabetes and deafness inherited ?

Answer: How do people inherit MIDD? MIDD is inherited in a mitochondrial pattern, which is also known as maternal inheritance. This pattern of inheritance applies to genes contained in mitochondrial DNA. Because egg cells, but not sperm cells, contribute mitochondria to the developing embryo, only females pass mitochondrial conditions to their children. Mitochondrial disorders can appear in every generation of a family and can affect both males and females, but fathers do not pass mitochondrial traits to their children. Most of the body's cells contain thousands of mitochondria, each with one or more copies of mitochondrial DNA. These cells can have a mix of mitochondria containing mutated and unmutated DNA (heteroplasmy). The severity of MIDD is thought to be associated with the percentage of mitochondria with the mitochondrial DNA mutation.
Question: How to diagnose Polymyositis ?

Answer: How is polymyositis diagnosed? A diagnosis of polymyositis is often suspected in people with proximal muscle weakness and other associated signs and symptoms. Additional testing can then be ordered to confirm the diagnosis and rule out other conditions that may cause similar features. This testing may include: Blood tests to measure the levels of certain muscle enzymes (i.e. creatine kinase and aldolase) and detect specific autoantibodies associated with different symptoms of polymyositis Electromyography to check the health of the muscles and the nerves that control them Imaging studies such as an MRI scan to detect muscle inflammation A muscle biopsy to diagnose muscle abnormalities such as inflammation, damage and/or infection Medscape Reference's Web site offers more specific information regarding the treatment and management of polymyositis. Please click on the link to access this resource.
Question: What is (are) Mitochondrial complex IV deficiency ?

Answer: Cytochrome C oxidase deficiency (COX deficiency) is a condition that can affect several parts of the body including the skeletal muscles, heart, brain and liver. The range and severity of signs and symptoms can vary widely among affected individuals (even within the same family) and depend on the form of the condition present. Features in mildly affected individuals may include muscle weakness and hypotonia; in more severely affected individuals, brain dysfunction; heart problems; an enlarged liver; lactic acidosis; and/or a specific group of features known as Leigh syndrome may also be present. COX deficiency is caused by mutations in any of at least 14 genes; the inheritance pattern depends on the gene involved. The condition is frequently fatal in childhood, but mildly affected individuals may survive into adolescence or adulthood.
Question: What is (are) Inclusion body myopathy 2 ?

Answer: Inclusion body myopathy 2, also known as hereditary inclusion body myopathy (HIBM), GNE-related myopathy,  distal myopathy with rimmed vacuoles, and Nonaka myopathy, is an inherited condition that primarily affects the skeletal muscles (the muscles that the body uses to move). This disorder is characterized by muscle weakness that appears in late adolescence or early adulthood and worsens over time. Early symptoms typically develop in the 20s and 30s and may include difficulty running or walking, tripping, weakness in the index finger, and frequent loss of balance. Inclusion body myopathy 2 is caused by mutations in the GNE gene. The condition is inherited in an autosomal recessive manner. Treatment is focused on managing individual symptoms.
Question: What are the symptoms of Craniopharyngioma ?

Answer: What symptoms may be associated with craniopharyngioma? Craniopharyngioma causes symptoms in three different ways: by increasing the pressure on the brain (intracranial pressure) by disrupting the function of the pituitary gland by damaging the optic nerve Increased pressure on the brain causes headache, nausea, vomiting (especially in the morning), and difficulty with balance. Damage to the pituitary gland causes hormone imbalances that can lead to excessive thirst and urination (diabetes insipidus) and stunted growth. When the optic nerve is damaged by the tumor, vision problems develop. These defects are often permanent, and may be worse after surgery to remove the tumor. Most patients have at least some visual defects and evidence of decreased hormone production at the time of diagnosis.
Question: What is (are) Unna-Thost palmoplantar keratoderma ?

Answer: Unna-Thost palmoplantar keratoderma is a type of diffuse palmoplantar keratoderma that mostly affects the palms of the hands and soles of the feet. It usually begins in early childhood with redness of the palms and soles. The palms and soles gradually become thicker and develop a yellowish, waxy appearance. Increased sweating (hyperhidrosis) is quite common and there is a tendency to fungal and bacterial infections of the feet. This condition usually does not extend beyond the hands and feet. It may affect the knuckle pads and nails, but usually does not involve the thin skin on the top of the feet or hands. Unna-Thost palmoplantar keratoderma is inherited in an autosomal dominant fashion and caused by mutations in the KRT1 gene.
Question: What is (are) Malakoplakia ?

Answer: Malakoplakia is a rare chronic inflammatory disease. It commonly involves the urinary tract, but may also involve the prostate, ureter, pelvis, bones, lungs, testes, gastrointestinal tract, skin, and kidney.  Malakoplakia of the kidney is often associated with chronic kidney infection and obstruction. E. coli  is the most common organism found in urine samples. Common symptoms of malakoplakia of the kidney include flank pain and signs of active kidney infection. It may affect one or both kidneys and can cause symptoms similar to that of kidney failure.Careful studies of the involved tissues can help to distinguish malakoplakia of the kidney from similar conditions, namely xanthogranulomatous pyelonephritis and megalocytic interstitial nephritis.