umarjan11/Medical-qna huggingface dataset:
Question: What is (are) Nicolaides-Baraitser syndrome ?

Answer: Nicolaides-Baraitser syndrome (NCBRS) is a very rare condition characterized by severe intellectual disability and various physical features. Signs and symptoms may include seizures, short stature, sparse hair, distinctive facial characteristics, short fingers and toes (brachydactyly), and prominent joints in the fingers and toes (interphalangeal joints). Features of the condition can worsen over time. NCBRS is caused by changes (mutations) in the SMARCA2 gene and is inherited in an autosomal dominant manner. All cases reported to date have been sporadic, occurring in people with no family history of NCBRS.
Question: What is (are) Combined malonic and methylmalonic aciduria ?

Answer: Combined malonic and methylmalonic aciduria (CMAMMA) is an inherited condition in which certain chemicals accumulate in the blood and urine of affected individuals. People with CMAMMA can have a wide variety of symptoms. Children with CMAMMA can suffer from developmental delays and a failure to gain weight and grow (failure to thrive). In those who were identified as adults, symptoms may include psychiatric features and neurological problems that can mimic Alzheimer's disease and multiple sclerosis. Recently, researchers have found that mutations in the ACSF3 gene cause CMAMMA.
Question: Is Greig cephalopolysyndactyly syndrome inherited ?

Answer: How is Greig cephalopolysyndactyly syndrome inherited? Greig cephalopolysyndactyly syndrome (GCPS) is often inherited in an autosomal dominant pattern. This means that to be affected, a person only needs a change (mutation) in one copy of the GLI3 gene in each cell. In some cases, an affected person inherits a gene mutation or chromosomal abnormality from one affected parent. Other cases occur in people with no history of the condition in their family. A person with GCPS syndrome has a 50% chance with each pregnancy of passing the altered gene to his or her child.
Question: What is (are) Bladder cancer ?

Answer: Bladder cancer is a form of cancer that occurs due to abnormal and uncontrolled cell growth in the bladder. Signs and symptoms of the condition may include abdominal pain, blood in the urine, fatigue, painful urination, frequent urination, incontinence, and/or weightloss. Most cases of bladder cancer occur sporadically in people with no family history of the condition. Risk factors for the condition include smoking, exposure to certain chemicals, and having chronic bladder infections. Treatment varies based on the severity of the condition and may include surgery, radiation therapy, chemotherapy, and/or biological therapy.
Question: What are the treatments for Mandibulofacial dysostosis with microcephaly ?

Answer: How might mandibulofacial dysostosis with microcephaly be treated? Individualized treatment of craniofacial features is managed by a multidisciplinary team which may include various specialists. Surgery may be needed for a variety of abnormalities, in the newborn period or beyond. Treatment of hearing loss is individualized, and may involve conventional hearing aids, bone-anchored hearing aid, and/or cochlear implants. Occupational, physical, and/or speech/language therapies are involved as needed to optimize developmental outcome. Additional treatment information is available on GeneReviews' Web site.
Question: What is (are) Fine-Lubinsky syndrome ?

Answer: Fine-Lubinsky syndrome (FLS) is a very rare syndrome that affects various parts of the body. Signs and symptoms can vary and may include brachycephaly or plagiocephaly; structural brain abnormalities; abnormal EEG; intellectual disability; deafness; eye conditions (cataracts or glaucoma); distinctive facial features; and body asymmetry. The underlying cause of FLS remains unknown. Almost all cases have been sporadic (occurring in people with no family history of FLS) with the exception of 2 affected siblings, suggesting it was inherited in an autosomal recessive manner.
Question: What are the symptoms of Celiac artery compression syndrome ?

Answer: What are the signs and symptoms of celiac artery compression syndrome?  Classically, individuals with celiac artery compression syndrome present with a triad of abdominal pain after eating, weight loss (usually >20 pounds), and abdominal bruit (abnormal sound of a blood vessel when blocked or narrowed).  One review found that abdominal pain is the most common symptom, found to be present in approximately 80% of individuals, while weight loss was found in approximately 48% and abdominal bruit was appreciated in approximately 35%. Other symptoms include: nausea, diarrhea, vomiting, and delayed gastric emptying.
Question: How to diagnose Camurati-Engelmann disease ?

Answer: How is Camurati-Engelmann disease diagnosed? Diagnosis of Camurati-Engelmann disease is based on physical examination and radiographic findings and can be confirmed by molecular genetic testing. TGFB1 is the only gene known to be associated with Camurati-Engelmann disease. Sequence analysis identifies mutations in TGFB1 in about 90% of affected individuals and is clinically available. Individuals with a family history of Camurati-Engelmann disease or symptoms associated with this condition may wish to consult with a genetics professional. Visit the  Genetic Resources section to learn how you can locate a genetics professional in your community.
Question: Who is at risk for Coronary Microvascular Disease? ?

Answer: Coronary microvascular disease can affect both men and women. However, women may be at risk for coronary microvascular disease if they have lower than normal levels of estrogen at any point in their adult lives. (This refers to the estrogen that the ovaries produce, not the estrogen used in hormone therapy.) Low estrogen levels before menopause can raise younger womens risk for the disease. Causes of low estrogen levels in younger women can be mental stress or a problem with the function of theovaries.
                
The causes of coronary microvascular disease and atherosclerosis are also considered risk factors for the disease.
Question: What are the treatments for Microcephaly ?

Answer: There is no treatment for microcephaly that can return a childs head to a normal size or shape. Treatment focuses on ways to decrease the impact of the associated deformities and neurological disabilities. Children with microcephaly and developmental delays are usually evaluated by a pediatric neurologist and followed by a medical management team. Early childhood intervention programs that involve physical, speech, and occupational therapists help to maximize abilities and minimize dysfunction. Medications are often used to control seizures, hyperactivity, and neuromuscular symptoms. Genetic counseling may help families understand the risk for microcephaly in subsequent pregnancies.
Question: What are the treatments for Reye's Syndrome ?

Answer: There is no cure for RS. Successful management, which depends on early diagnosis, is primarily aimed at protecting the brain against irreversible damage by reducing brain swelling, reversing the metabolic injury, preventing complications in the lungs, and anticipating cardiac arrest. It has been learned that several inborn errors of metabolism mimic RS in that the first manifestation of these errors may be an encephalopathy with liver dysfunction. These disorders must be considered in all suspected cases of RS. Some evidence suggests that treatment in the end stages of RS with hypertonic IV glucose solutions may prevent progression of the syndrome.
Question: What are the treatments for Machado-Joseph Disease ?

Answer: MJD is incurable, but some symptoms of the disease can be treated. For those individuals who show parkinsonian features, levodopa therapy can help for many years. Treatment with antispasmodic drugs, such as baclofen, can help reduce spasticity. Botulinum toxin can also treat severe spasticity as well as some symptoms of dystonia. Speech problems and trouble swallowing can be treated with medication and speech therapy. Physiotherapy can help patients cope with disability associated with gait problems. Physical aids, such as walkers and wheelchairs, can assist with everyday activities.
Question: Is pulmonary veno-occlusive disease inherited ?

Answer: When caused by mutations in the EIF2AK4 gene, PVOD is inherited in an autosomal recessive pattern, which means both copies of the 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.  In contrast, when caused by mutations in another gene, the condition can have an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In these cases, one parent of an affected individual typically has increased blood pressure in the vessels of the lungs.
Question: What are the treatments for mucopolysaccharidosis type IV ?

Answer: These resources address the diagnosis or management of mucopolysaccharidosis type IV:  - Genetic Testing Registry: Morquio syndrome  - Genetic Testing Registry: Mucopolysaccharidosis, MPS-IV-A  - Genetic Testing Registry: Mucopolysaccharidosis, MPS-IV-B  - MedlinePlus Encyclopedia: Morquio syndrome   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 TK2-related mitochondrial DNA depletion syndrome, myopathic form ?

Answer: These resources address the diagnosis or management of TK2-related mitochondrial DNA depletion syndrome, myopathic form:  - Cincinnati Children's Hospital: Mitochondrial Diseases Program  - Gene Review: Gene Review: TK2-Related Mitochondrial DNA Depletion Syndrome, Myopathic Form   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 Partington syndrome ?

Answer: These resources address the diagnosis or management of Partington syndrome:  - American Academy of Child and Adolescent Psychiatry: Services in School for Children with Special Needs  - American Academy of Pediatrics: What is a Developmental/Behavioral Pediatrician?  - Centers for Disease Control and Prevention: Developmental Screening Fact Sheet  - Genetic Testing Registry: Partington X-linked mental retardation syndrome   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 X-linked thrombocytopenia inherited ?

Answer: This condition is inherited in an X-linked pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell may or may not cause the disorder. In males (who have only one X chromosome), a mutation in the only copy of the gene in each cell causes the disorder. In most cases of X-linked inheritance, males experience more severe symptoms of the disorder than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.
Question: What are the treatments for adenine phosphoribosyltransferase deficiency ?

Answer: These resources address the diagnosis or management of adenine phosphoribosyltransferase deficiency:  - Boston Children's Hospital: Pediatric Kidney Stones in Children  - Gene Review: Gene Review: Adenine Phosphoribosyltransferase Deficiency  - Genetic Testing Registry: Adenine phosphoribosyltransferase deficiency   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 congenital generalized lipodystrophy ?

Answer: These resources address the diagnosis or management of congenital generalized lipodystrophy:  - Gene Review: Gene Review: Berardinelli-Seip Congenital Lipodystrophy  - Genetic Testing Registry: Berardinelli-Seip congenital lipodystrophy  - MedlinePlus Encyclopedia: Hypertrophic Cardiomypathy  - University of Texas Southwestern Medical Center: Lipodystrophy   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 alpha thalassemia X-linked intellectual disability syndrome ?

Answer: These resources address the diagnosis or management of alpha thalassemia X-linked intellectual disability syndrome:  - Gene Review: Gene Review: Alpha-Thalassemia X-Linked Intellectual Disability Syndrome  - Genetic Testing Registry: ATR-X syndrome  - MedlinePlus Encyclopedia: Ambiguous Genitalia  - MedlinePlus Encyclopedia: Hypospadias   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 hereditary fructose intolerance ?

Answer: These resources address the diagnosis or management of hereditary fructose intolerance:  - Boston University: Specifics of Hereditary Fructose Intolerance and Its Diagnosis  - Gene Review: Gene Review: Hereditary Fructose Intolerance  - Genetic Testing Registry: Hereditary fructosuria  - MedlinePlus Encyclopedia: Hereditary Fructose Intolerance   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) arginine:glycine amidinotransferase deficiency ?

Answer: Arginine:glycine amidinotransferase deficiency is an inherited disorder that primarily affects the brain. People with this disorder have mild to moderate intellectual disability and delayed speech development. Some affected individuals develop autistic behaviors that affect communication and social interaction. They may experience seizures, especially when they have a fever.  Children with arginine:glycine amidinotransferase deficiency may not gain weight and grow at the expected rate (failure to thrive), and have delayed development of motor skills such as sitting and walking. Affected individuals may also have weak muscle tone and tend to tire easily.
Question: What are the treatments for mitochondrial neurogastrointestinal encephalopathy disease ?

Answer: These resources address the diagnosis or management of MNGIE disease:  - Gene Review: Gene Review: Mitochondrial Neurogastrointestinal Encephalopathy Disease  - Genetic Testing Registry: Myoneural gastrointestinal encephalopathy syndrome  - MedlinePlus Encyclopedia: Leukoencephalopathy (image)   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 X-linked infantile nystagmus inherited ?

Answer: This condition is inherited in an X-linked pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes in each cell. 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 copies of the X chromosome), one altered copy of the gene in each cell can cause the condition, although affected females may experience less severe symptoms than affected males. Approximately half of the females with only one altered copy of the FRMD7 gene in each cell have no symptoms of this condition.
Question: What are the treatments for myopathy with deficiency of iron-sulfur cluster assembly enzyme ?

Answer: These resources address the diagnosis or management of myopathy with deficiency of iron-sulfur cluster assembly enzyme:  - Gene Review: Gene Review: Myopathy with Deficiency of ISCU  - Genetic Testing Registry: Myopathy with lactic acidosis, hereditary  - MedlinePlus Encyclopedia: Rhabdomyolysis   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 3-hydroxyacyl-CoA dehydrogenase deficiency ?

Answer: These resources address the diagnosis or management of 3-hydroxyacyl-CoA dehydrogenase deficiency:  - Baby's First Test  - Genetic Testing Registry: Deficiency of 3-hydroxyacyl-CoA dehydrogenase  - United Mitochondrial Disease Foundation: Treatments & Therapies   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 GLUT1 deficiency syndrome ?

Answer: These resources address the diagnosis or management of GLUT1 deficiency syndrome:  - G1D Registry  - Gene Review: Gene Review: Glucose Transporter Type 1 Deficiency Syndrome  - Genetic Testing Registry: Glucose transporter type 1 deficiency syndrome  - The Glucose Transporter Type 1 Deficiency Syndrome Research Consortium (G1DRC)   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 Beare-Stevenson cutis gyrata syndrome ?

Answer: Mutations in the FGFR2 gene cause Beare-Stevenson cutis gyrata syndrome. This gene produces a protein called fibroblast growth factor receptor 2, which plays an important role in signaling a cell to respond to its environment, perhaps by dividing or maturing. A mutation in the FGFR2 gene alters the protein and promotes prolonged signaling, which is thought to interfere with skeletal and skin development.  Some individuals with Beare-Stevenson cutis gyrata syndrome do not have identified mutations in the FGFR2 gene. In these cases, the cause of the condition is unknown.
Question: How many people are affected by Urinary Tract Infection In Adults ?

Answer: Urinary tract infections are the second most common type of infection in the body, accounting for about 8.1 million visits to health care providers each year.1 Women are especially prone to UTIs for anatomical reasons. One factor is that a womans urethra is shorter, allowing bacteria quicker access to the bladder. Also, a womans urethral opening is near sources of bacteria from the anus and vagina. For women, the lifetime risk of having a UTI is greater than 50 percent.2 UTIs in men are not as common as in women but can be serious when they occur.
Question: What to do for Inguinal Hernia ?

Answer: Researchers have not found that eating, diet, and nutrition play a role in causing inguinal hernias. A person with an inguinal hernia may be able to prevent symptoms by eating high-fiber foods. Fresh fruits, vegetables, and whole grains are high in fiber and may help prevent the constipation and straining that cause some of the painful symptoms of a hernia.
                
The surgeon will provide instructions on eating, diet, and nutrition after inguinal hernia surgery. Most people drink liquids and eat a light diet the day of the operation and then resume their usual diet the next day.
Question: Where to find support for people with Alcohol Use and Older Adults ?

Answer: Many people with alcohol problems find it helpful to talk with others who have faced similar problems. Mutual help groups, such as Alcoholics Anonymous (AA) 12-step programs, help people recover from alcohol use disorder. AA meetings are open to anyone who wants to stop drinking. Attending mutual-help groups is beneficial for many people who want to stop drinking. Many people continue to go to support/mutual help groups even after medical treatment for their alcohol problems ends. There are other mutual help groups available such as Smart Recovery, Life Ring, and Moderation Management.  Learn more about available types of treatment for alcohol problems.
Question: What are the treatments for Rheumatoid Arthritis ?

Answer: Medication, exercise, and, in some cases, surgery are common treatments for this disease. Most people who have rheumatoid arthritis take medications. Some drugs only provide relief for pain; others reduce inflammation. People with rheumatoid arthritis can also benefit from exercise, but they need to maintain a good balance between rest and exercise. They should get rest when the disease is active and get more exercise when it is not. In some cases, a doctor will recommend surgery to restore function or relieve pain in a damaged joint. Several types of surgery are available to patients with severe joint damage. Joint replacement and tendon reconstruction are examples.
Question: Who is at risk for Uterine Sarcoma? ?

Answer: Being exposed to x-rays can increase the risk of uterine sarcoma. 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 doctor if you think you may be at risk. Risk factors for uterine sarcoma include the following:         - Past treatment with radiation therapy to the pelvis.    - Treatment with tamoxifen for breast cancer. If you are taking this drug, have a pelvic exam every year and report any vaginal bleeding (other than menstrual bleeding) as soon as possible.
Question: What is (are) Dizziness and Vertigo ?

Answer: When you're dizzy, you may feel lightheaded or lose your balance. If you feel that the room is spinning, you have vertigo.    A sudden drop in blood pressure or being dehydrated can make you dizzy. Many people feel lightheaded if they get up too quickly from sitting or lying down.    Dizziness usually gets better by itself or is easily treated. However, it can be a symptom of other disorders. Medicines may cause dizziness, or problems with your ear. Motion sickness can also make you dizzy. There are many other causes.    If you are dizzy often, you should see your health care provider to find the cause.
Question: What is (are) Disabilities ?

Answer: Disabilities make it harder to do normal daily activities. They may limit what you can do physically or mentally, or they can affect your senses. Disability doesn't mean unable, and it isn't a sickness. Most people with disabilities can - and do - work, play, learn, and enjoy full, healthy lives. Mobility aids and assistive devices can make daily tasks easier.    About one in every five people in the United States has a disability. Some people are born with one. Others have them as a result of an illness or injury. Some people develop them as they age. Almost all of us will have a disability at some point in our lives.    Department of Health and Human Services