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

Answer: Lattice corneal dystrophy type II is caused by mutations in the GSN gene. This gene provides instructions for making a protein called gelsolin. This protein is found throughout the body and helps regulate the formation of the network of protein filaments that gives structure to cells (the cytoskeleton). Mutations that cause lattice corneal dystrophy type II change a single protein building block (amino acid) in the gelsolin protein. The altered gelsolin protein is broken down differently than the normal protein, which results in an abnormal gelsolin protein fragment that is released from the cell. These protein fragments clump together and form amyloid deposits, which lead to the signs and symptoms of lattice corneal dystrophy type II.
Question: Is Donnai-Barrow syndrome inherited ?

Answer: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. In almost all cases, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene but typically do not show signs and symptoms of the condition.  One individual with Donnai-Barrow syndrome was found to have inherited both copies of the mutated gene from his father as a result of a genetic change called uniparental disomy (UPD). UPD occurs when a person receives two copies of a chromosome, or part of a chromosome, from one parent and no copies from the other parent. UPD can occur as a random event during the formation of egg or sperm cells or may happen in early fetal development.
Question: What are the treatments for ornithine translocase deficiency ?

Answer: These resources address the diagnosis or management of ornithine translocase deficiency:  - Baby's First Test  - Gene Review: Gene Review: Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome  - Gene Review: Gene Review: Urea Cycle Disorders Overview  - Genetic Testing Registry: Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome  - MedlinePlus Encyclopedia: Hereditary urea cycle abnormality   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 Schinzel-Giedion syndrome ?

Answer: Schinzel-Giedion syndrome is caused by mutations in the SETBP1 gene. This gene provides instructions for making a protein called SET binding protein 1 (SETBP1), which is known to attach (bind) to another protein called SET. However, the function of the SETBP1 protein and the effect of its binding to the SET protein are unknown.  The SETBP1 gene mutations that have been identified in Schinzel-Giedion syndrome cluster in one region of the gene known as exon 4. However, the effects of the mutations on the function of the gene or the protein are unknown. Researchers are working to understand how mutations in the SETBP1 gene cause the signs and symptoms of Schinzel-Giedion syndrome.
Question: Is congenital hepatic fibrosis inherited ?

Answer: The various syndromes of which congenital hepatic fibrosis is often a feature can have different inheritance patterns. Most of these disorders are inherited in an autosomal recessive pattern, which means both copies of the associated gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Rare syndromes involving congenital hepatic fibrosis may be inherited in an X-linked recessive pattern, in which the gene associated with the syndrome is located on the X chromosome, which is one of the two sex chromosomes.  In isolated congenital hepatic fibrosis, the inheritance pattern is unknown.
Question: What causes Whipple Disease ?

Answer: Bacteria called Tropheryma whipplei (T. whipplei) cause Whipple disease. T. whipplei infection can cause internal sores, also called lesions, and thickening of tissues in the small intestine. The villi take on an abnormal, clublike appearance and the damaged intestinal lining does not properly absorb nutrients, causing diarrhea and malnutrition. Diarrhea is frequent, loose, and watery bowel movements. Malnutrition is a condition that develops when the body does not get the right amount of vitamins, minerals, and other nutrients it needs to maintain healthy tissues and organ function. Over time, the infection spreads to other parts of the persons body and will damage other organs.
Question: What to do for Proteinuria ?

Answer: - Proteinuria is a condition in which urine contains a detectable amount of protein.  - Proteinuria is a sign of chronic kidney disease (CKD).  - Groups at risk for proteinuria include African Americans, American Indians, Hispanics/Latinos, Pacific Islander Americans, older people, overweight people, people with diabetes or hypertension, and people who have a family history of kidney disease.  - Proteinuria may have no signs or symptoms. Laboratory testing is the only way to find out whether protein is in a person's urine.  - Several health organizations recommend regular checks for proteinuria so kidney disease can be detected and treated before it progresses.  - A person with diabetes, hypertension, or both should work to control blood glucose and blood pressure.
Question: What are the symptoms of Diabetic Retinopathy ?

Answer: At first, you will see a few specks of blood, or spots, "floating" in your vision. If spots occur, see your eye care professional as soon as possible. You may need treatment before more serious bleeding or hemorrhaging occurs. Hemorrhages tend to happen more than once, often during sleep. Sometimes, the spots clear without treatment, and you will see better. However, bleeding can reoccur and cause severely blurred vision. You need to be examined by your eye care professional at the first sign of blurred vision, before more bleeding occurs. If left untreated, proliferative retinopathy can cause severe vision loss and even blindness. Also, the earlier you receive treatment, the more likely treatment will be effective.
Question: What are the stages of Childhood Brain Stem Glioma ?

Answer: Key Points
                    - The plan for cancer treatment depends on whether the tumor is in one area of the brain or has spread all through the brain.
                
                
                    The plan for cancer treatment depends on whether the tumor is in one area of the brain or has spread all through the brain.
                    Staging is the process used to find out how much cancer there is and if cancer has spread. It is important to know the stage in order to plan treatment.    There is no standard staging system for childhood brain stem glioma. Treatment is based on the following:         - Whether the tumor is newly diagnosed or recurrent (has come back after treatment).    - The type of tumor (either a diffuse intrinsic pontine glioma or a focal glioma).
Question: What are the symptoms of Urethral Cancer ?

Answer: Signs of urethral cancer include bleeding or trouble with urination. These and other signs and symptoms may be caused by urethral cancer or by other conditions. There may be no signs or symptoms in the early stages. Check with your doctor if you have any of the following:         - Trouble starting the flow of urine.    - Weak or interrupted ("stop-and-go") flow of urine.    - Frequent urination, especially at night.    -  Incontinence.    -  Discharge from the urethra.    - Bleeding from the urethra or blood in the urine.    - A lump or thickness in the perineum or penis.    - A painless lump or swelling in the groin.
Question: What is (are) Small Intestine Disorders ?

Answer: Your small intestine is the longest part of your digestive system - about twenty feet long! It connects your stomach to your large intestine (or colon) and folds many times to fit inside your abdomen. Your small intestine does most of the digesting of the foods you eat. It has three areas called the duodenum, the ileum, and the jejunum.    Problems with the small intestine can include:       - Bleeding    - Celiac disease    - Crohn's disease    - Infections    - Intestinal cancer    - Intestinal obstruction    - Irritable bowel syndrome    - Ulcers, such as peptic ulcer       Treatment of disorders of the small intestine depends on the cause.
Question: What is (are) Women's Health Checkup ?

Answer: Regular health exams and tests can help find problems before they start. They also can help find problems early, when your chances for treatment are better. As a woman, you need some special exams and screenings. During your checkup, your health care provider will usually do:       - A pelvic exam - an exam to check if internal female organs are normal by feeling their shape and size.    - A Pap test - a test to check for cancer of the cervix, the opening to a woman's uterus. Cells from the cervix are examined under a microscope.    - A clinical breast exam - to check for breast cancer by feeling and looking at your breasts.       Your health care provider may also recommend other tests, including a mammogram or a test for HPV.
Question: What is (are) Abscess ?

Answer: An abscess is a pocket of pus. You can get an abscess almost anywhere in your body. When an area of your body becomes infected, your body's immune system tries to fight the infection. White blood cells go to the infected area, collect within the damaged tissue, and cause inflammation. During this process, pus forms. Pus is a mixture of living and dead white blood cells, germs, and dead tissue.     Bacteria, viruses, parasites and swallowed objects can all lead to abscesses. Skin abscesses are easy to detect. They are red, raised and painful. Abscesses inside your body may not be obvious and can damage organs, including the brain, lungs and others. Treatments include drainage and antibiotics.
Question: What is (are) Pressure Sores ?

Answer: Pressure sores are areas of damaged skin caused by staying in one position for too long. They commonly form where your bones are close to your skin, such as your ankles, back, elbows, heels and hips. You are at risk if you are bedridden, use a wheelchair, or are unable to change your position. Pressure sores can cause serious infections, some of which are life-threatening. They can be a problem for people in nursing homes.    You can prevent the sores by        -  Keeping skin clean and dry    - Changing position every two hours    -  Using pillows and products that relieve pressure       Pressure sores have a variety of treatments. Advanced sores are slow to heal, so early treatment is best.
Question: Do you have information about Sexual Problems in Women

Answer: Summary : There are many problems that can keep a woman from enjoying sex. They include       - Lack of sexual desire     - Inability to become aroused    - Lack of orgasm, or sexual climax    - Painful intercourse       These problems may have physical or psychological causes. Physical causes may include conditions like diabetes, heart disease, nerve disorders, or hormone problems. Some drugs can also affect desire and function. Psychological causes may include work-related stress and anxiety. They may also include depression or concerns about marriage or relationship problems. For some women, the problem results from past sexual trauma.     Occasional problems with sexual function are common. If problems last more than a few months or cause distress for you or your partner, you should see your health care provider.
Question: Do you have information about Drugs and Young People

Answer: Summary : Drug abuse is a serious public health problem. It affects almost every community and family in some way. Drug abuse in children and teenagers may pose a greater hazard than in older people. This is because their brains are not yet fully developed. As a result, the brains of young people may be more susceptible to drug abuse and addiction than adult brains.    Abused drugs include       - Amphetamines     - Anabolic steroids     - Club drugs    - Cocaine     - Heroin     - Inhalants    - Marijuana    - Prescription drugs       There are different types of treatment for drug abuse. But it is better to prevent drug abuse in the first place.    NIH: National Institute on Drug Abuse
Question: What are the treatments for Klumpke paralysis ?

Answer: How might Klumpke paralysis be treated? The  affected arm may be immobilized across the body for 7 to 10 days. For mild cases gentle massage of the arm and range-of-motion exercises may be recommended. For torn nerves (avulsion and rupture injuries), symptoms may improve with surgery.    Most infants recover from neuropraxia within 4 months. Parents or guardians of infants that show no evidence of spontaneous recovery at 4 months, may be counseled regarding additional treatment options. These treatment options may include: Surgery on the nerves (e.g., nerve grafts and neuroma excision) Tendon transfers to help the muscles that are affected by nerve damage work better
Question: What is (are) Crystal arthropathies ?

Answer: Crystal arthropathies are a diverse group of bone diseases associated with the deposition of minerals within joints and the soft tissues around the joints. The group includes gout, basic calcium phosphate and calcium pyrophosphate dihydrate deposition diseases, and, in very rare cases, calcium oxalate crystal arthropathy which is a rare cause of arthritis characterized by deposition of calcium oxalate crystals within synovial fluid and typically occurs in patients with underlying primary or secondary hyperoxaluria. These crystals are responsible for different rheumatic syndromes, including acute or chronic synovial inflammation and cartilage degeneration. Treatment depends on the specific condition.
Question: What is (are) Epithelial basement membrane corneal dystrophy ?

Answer: Epithelial basement membrane corneal dystrophy is a condition where the epithelium of the cornea (the outermost region of the cornea) loses its normal clarity due to a buildup of cloudy material. It gets its name from the unusual appearance of the cornea during an eye exam. This dystrophy occurs when the epithelium's basement membrane develops abnormally, causing the epithelial cells to not properly adhere to it. This leads to recurrent epithelial erosions, which can cause blurred vision and severe pain. This condition is usually not inherited. However, families with autosomal dominant inheritance and mutations in the TGFBI gene have been identified.
Question: What causes Pityriasis rubra pilaris ?

Answer: What causes pityriasis rubra pilaris? In most cases, pityriasis rubra pilaris (PRP) occurs sporadically for unknown reasons. In a few families with the inherited form, familial PRP, the condition is caused by mutations in the CARD14 gene. This gene gives instructions for making a protein that turns on other proteins that regulate genes that control the body's immune responses and inflammatory reactions. It also protects cells from certain signals that would otherwise cause them to self-destruct. The CARD14 protein is particularly abundant in the skin. Mutations in the gene can cause a person to have an abnormal inflammatory response. Researchers are trying to find out how these mutations cause the specific features of familial PRP.
Question: What is (are) Ehlers-Danlos syndrome, kyphoscoliosis type ?

Answer: Ehlers-Danlos syndrome (EDS), kyphoscoliosis type is an inherited connective tissue disorder that is caused by defects in a protein called collagen. Common signs and symptoms include hyperextensible skin that is fragile and bruises easily; joint hypermobility; severe hypotonia at birth; progressive kyphoscoliosis (kyphosis and scoliosis); and fragility of the sclera. EDS, kyphoscoliosis type is caused by changes (mutations) in the PLOD1 gene and is inherited in an autosomal recessive manner. Treatment is focused on preventing serious complications and relieving associated signs and symptoms.
Question: What are the treatments for Fibrodysplasia ossificans progressiva ?

Answer: How might fibrodysplasia ossificans progressiva be treated? There is currently no definitive treatment.  However, a brief course of high-dose corticosteroids, such as Prednisone, started within the first 24 hours of a flare-up, may help reduce the intense inflammation and tissue swelling seen in the early stages of fibrodysplasia ossificans progressiva.  Other medications, such as muscle relaxants, mast cell inhibitors, and aminobisphosphonates, if appropriate, should be closely monitored by a physician.  Surgery to remove heterotopic and extra-skeletal bone is risky and can potentially cause painful new bone growth.
Question: What is (are) Sacrococcygeal Teratoma ?

Answer: A sacrococcygeal teratoma is a tumor that grows at the base of the spine in a developing fetus.  It occurs in one in 40,000 newborns and girls are four times more likely to be affected than boys.  Though it is usually benign, there is a possibility that the teratoma could become malignant.  As such, the recommended treatment of a teratoma is complete removal of the tumor by surgery, performed soon after the birth.  If not all of the tumor is removed during the initial surgery, the teratoma may grow back (recur) and additional surgeries may be needed.  Studies have found that sacrococcygeal teratomas recur in up to 22% of cases.
Question: What is (are) Hypotrichosis-lymphedema-telangiectasia syndrome ?

Answer: Hypotrichosis-lymphedema-telangiectasia syndrome (HLTS) is a rare condition that, as the name suggests, is associated with sparse hair (hypotrichosis), lymphedema, and telangiectasia, particularly on the palms of the hands. Symptoms usually begin at birth or in early childhood and become worse over time. HLTS is thought to be caused by changes (mutations) in the SOX18 gene. It can follow both an autosomal dominant or an autosomal recessive pattern of inheritance, depending on the affected family. There is currently no cure for the condition. Treatment is based on the signs and symptoms present in each person.
Question: What is (are) Dravet syndrome ?

Answer: Dravet syndrome is a severe form of epilepsy. The condition appears during the first year of life as frequent fever-related (febrile) seizures. As the condition progresses, other types of seizures typically occur, including myoclonus and status epilepticus. A family history of either epilepsy or febrile seizures exists in 15 percent to 25 percent of cases. Intellectual development begins to deteriorate around age 2, and affected individuals often have a lack of coordination, poor development of language, hyperactivity, and difficulty relating to others. In 30 to 80 percent of cases, Dravet syndrome is caused by changes in the SCN1A gene, which is required for the proper function of brain cells.
Question: What is (are) Milroy disease ?

Answer: Milroy disease is a lymphatic disease that causes swelling (lymphedema) in the lower legs and feet. Lymphedema is usually present at birth or develops in infancy. It typically occurs on both sides of the body and can worsen over time. Other symptoms may include accumulation of fluid in the scrotum in males (hydrocele), upslanting toenails, deep creases in the toes, wart-like growths, prominent leg veins, and/or cellulitis. Milroy disease is sometimes caused by changes (mutations) in the FLT4 gene and is inherited in an autosomal dominant manner. In many cases, the cause remains unknown. Treatment may include lymphedema therapy to improve function and alleviate symptoms.
Question: What causes Cryptogenic organizing pneumonia ?

Answer: What causes cryptogenic organizing pneumonia? The underlying cause of cryptogenic organizing pneumonia (COP) is unknown (idiopathic). Organizing pneumonia is specifically diagnosed as COP when, among other characteristics, no definite cause for the organizing pneumonia is found. In other words, any known cause for the pneumonia must be ruled out before stating that a person is affected by COP. Other forms of organizing pneumonia may result from infection (bacteria, viruses, parasites, or fungi); drugs; or a reaction to radiation therapy for breast cancer. Organizing pneumonia can also be associated with specific disorders such as certain connective tissue disorders, blood malignancies (cancers), or ulcerative colitis.
Question: What is (are) Progressive multifocal leukoencephalopathy ?

Answer: Progressive multifocal leukoencephalopathy (PML) is a neurological disorder that damages the myelin that covers and protects nerves in the white matter of the brain. It is caused by the JC virus (JCV). By age 10, most people have been infected with this virus, but it rarely causes symptoms unless the immune system becomes severely weakened. The disease occurs, rarely, in organ transplant patients; people undergoing chronic corticosteroid or immunosuppressive therapy; and individuals with cancer, such as Hodgkins disease, lymphoma, and sarcoidosis.  PML is most common among individuals with acquired immune deficiency syndrome (AIDS).
Question: How to diagnose Human T-cell leukemia virus type 1 ?

Answer: How is human T-cell leukemia virus, type 1 diagnosed? Human T-cell leukemia virus, type 1 (HTLV-1) is usually diagnosed based on blood tests that detect antibodies to the virus. However, HTLV-1 is often never suspected or diagnosed since most people (95%) never develop any signs or symptoms of the infection. Diagnosis may occur during screening for blood donation, testing performed due to a family history of the infection, or a work-up for an HTLV-1-associated condition such as adult T-cell leukemia (ATL) or HTLV-1 associated myelopathy/tropical spastic paraparesis (HAM/TSP).
Question: What are the symptoms of HTLV-1 associated myelopathy/tropical spastic paraparesis ?

Answer: What are the signs and symptoms of HTLV-1 associated myelopathy/tropical spastic paraparesis? Signs and symptoms of HTLV-1 associated myelopathy/tropical spastic paraparesis (HAM/TSP) vary but may include: Progressive weakness  Stiff muscles  Muscle spasms  Backache A 'weak' bladder  Constipation Rarely HAM/TSP may cause: Uveitis  Arthritis Inflammation of the lung  Polymyositis  Dry eyes (keratoconjunctivitis sicca)  Skin inflammation (infectious dermatitis)
Question: What is (are) Fumarase deficiency ?

Answer: Fumarase deficiency is an inherited condition that primarily affects the nervous system, especially the brain. Affected infants may have microcephaly, abnormal brain structure, severe developmental delay, weak muscle tone (hypotonia), failure to thrive, seizures, and/or distinctive facial features. Other signs and symptoms may include hepatosplenomegaly, an excess of red blood cells (polycythemia), and/or or deficiency of white blood cells (leukopenia). Affected individuals usually survive only a few months, but a few have lived into early adulthood. This condition is caused by mutations in the FH gene and is inherited in an autosomal recessive manner. No effective treatment is currently available.
Question: What is (are) Pineal cyst ?

Answer: Pineal cysts are cysts of the pineal gland which is a small organ in the brain that produces melatonin (a sleep-regulating hormone). Pineal cysts are relatively common and may be found by chance in up to 10% of people undergoing CT or MRI brain imaging. The exact cause of pineal cysts is unknown. Most people with pineal cysts do not have any signs or symptoms. Rarely, a pineal cyst may cause headaches, hydrocephalus, eye movement abnormalities, and Parinaud syndrome. Treatment is usually only considered when a cyst is causing symptoms, in which case surgery, stereotactic aspiration or endoscopic treatment may be recommended.