umarjan11/Medical-qna huggingface dataset:
Question: Is Gordon syndrome inherited ?

Answer: How is Gordon syndrome inherited? While some reports suggest Gordon syndrome may be inherited in an X-linked dominant manner, most agree that it is inherited in an autosomal dominant manner with reduced expressivity and incomplete penetrance in females. In autosomal dominant inheritance, having only one mutated copy of the disease-causing gene in each cell is sufficient to cause signs and symptoms of the condition. When an individual with an autosomal dominant condition has children, each child has a 50% (1 in 2) risk to inherit the mutated copy of the gene. If a condition shows variable or reduced expressivity, it means that there can be a range in the nature and severity of signs and symptoms among affected individuals. Incomplete penetrance means that a portion of the individuals who carry the mutated copy of the disease-causing gene will not have any features of the condition.
Question: What is (are) Plasminogen activator inhibitor type 1 deficiency ?

Answer: Plasminogen activator inhibitor type 1 (PAI-1) deficiency a rare disorder that causes premature breakdown of blood clots and a moderate bleeding syndrome. While spontaneous bleeding is rare, moderate hemorrhages of the knees, elbows, nose and gums may be triggered by mild trauma. In females, menstrual bleeding is often severe. Prolonged bleeding after surgery is also common.  PAI-1 deficiency is caused by homozygous or compound heterozygous mutation in the SERPINE1 gene.  Fibrinolysis inhibitors, including epsilon-aminocaproic acid and tranexamic acid, are usually effective in treating and preventing bleeding episodes.
Question: What is (are) Dermal eccrine cylindroma ?

Answer: Cylindromas are non-cancerous (benign) tumors that develop from the skin. They most commonly occur on the head and neck and rarely become cancerous (malignant).  An individual can develop one or many cylindromas; if a person develops only one, the cylindroma likely occurred by chance and typically is not inherited. They usually begin to form during mid-adulthood as a slow-growing, rubbery nodule that causes no symptoms. The development of multiple cylindromas can be hereditary and is inherited in an autosomal dominant manner; this condition is called familial cylindromatosis.  Individuals with the inherited form begin to develop many, rounded nodules of various size shortly after puberty. The tumors grow very slowly and increase in number over time.
Question: What are the treatments for MECP2 duplication syndrome ?

Answer: How might MECP2 duplication syndrome be treated? Because MECP2 duplication syndrome affects many different systems of the body, medical management is often provided by a team of doctors and other healthcare professionals. Treatment for this condition varies based on the signs and symptoms present in each person. For example, infants with trouble swallowing and/or other feeding difficulties may require a feeding tube. Early developmental interventions may be recommended to help affected children reach their potential. This may include physical therapy, speech therapy and/or occupational therapy. Medications may be prescribed to treat seizures or spasticity. Recurrent infections are usually treated aggressively with appropriate antibiotics. Please speak with a healthcare provider if you have any questions about your personal medical management plan or that of a family member.
Question: What is (are) Erythromelalgia ?

Answer: Erythromelalgia (EM) is a rare condition characterized by episodes of burning pain, warmth, swelling and redness in parts of the body, particularly the hands and feet. This condition may occur spontaneously (primary EM) or secondary to neurological diseases, autoimmune diseases, or myeloproliferative disorders (secondary EM). Episodes may be triggered by increased body temperature, alcohol, and eating spicy foods. About 15% of cases are caused by mutations in the SCN9A gene and are inherited in an autosomal dominant manner. Other cases may be caused by unidentified genes or by non-genetic factors. Treatment depends on the underlying cause and may include topical and/or oral medications. In some cases, the condition goes away without treatment.
Question: Is Neonatal progeroid syndrome inherited ?

Answer: Is neonatal progeroid syndrome inherited? Although the underlying genetic cause of neonatal progeroid syndrome is unknown, studies suggest that it is likely inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier.
Question: What is (are) Amelogenesis imperfecta ?

Answer: Amelogenesis imperfecta (AI) (amelogenesis - enamel formation; imperfecta - imperfect) is a disorder that affects the structure and appearance of the enamel of the teeth. This condition causes teeth to be unusually small, discolored, pitted or grooved, and prone to rapid wear and breakage. These dental problems, which vary among affected individuals, can affect both primary (baby) teeth and permanent teeth. There are 4 main types of AI that are classified based on the type of enamel defect. These 4 types are divided further into 14 subtypes, which are distinguished by their specific dental abnormalities and by their pattern of inheritance. AI can be inherited in an autosomal dominant, autosomal recessive or X-linked recessive pattern.
Question: What is (are) Facioscapulohumeral muscular dystrophy ?

Answer: Facioscapulohumeral muscular dystrophy is a disorder characterized by muscle weakness and wasting (atrophy). This condition gets its name from the areas of the body that are affected most often: muscles in the face (facio-), around the shoulder blades (scapulo-), and in the upper arms (humeral). The signs and symptoms of facioscapulohumeral muscular dystrophy usually appear in adolescence. However, the onset and severity of the condition varies widely. Facioscapulohumeral muscular dystrophy results from a deletion of genetic material from a region of DNA known as D4Z4. This region is located near one end of chromosome 4. It is inherited in an autosomal dominant pattern.
Question: What causes Neutral lipid storage disease with myopathy ?

Answer: What causes neutral lipid storage disease with myopathy? Neutral lipid storage disease with myopathy is caused by mutations in the PNPLA2 gene. This gene provides instructions for making an enzyme called adipose triglyceride lipase (ATGL). The ATGL enzyme plays a role in breaking down fats called triglycerides. Triglycerides are an important source of stored energy in cells. These fats must be broken down into simpler molecules called fatty acids before they can be used for energy. PNPLA2 gene mutations impair the ATGL enzyme's ability to break down triglycerides, allowing them to accumulate in muscle and tissues throughout the body. This results in the signs and symptoms seen in people with neutral lipid storage disease with myopathy.
Question: Is Galloway-Mowat syndrome inherited ?

Answer: How is Galloway-Mowat syndrome inherited? Galloway-Mowat syndrome is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has a: 25% (1 in 4) chance to be affected 50% (1 in 2) chance to be an unaffected carrier like each parent 25% chance to be unaffected and not be a carrier
Question: What is (are) Crigler Najjar syndrome, type 1 ?

Answer: Crigler Najjar syndrome, type 1 is an inherited disorder in which bilirubin, a substance made by the liver, cannot be broken down. This condition occurs when the enzyme that normally converts bilirubin into a form that can easily be removed from the body does not work correctly. Without this enzyme, bilirubin can build up in the body and lead to jaundice and damage to the brain, muscles, and nerves. Crigler Najjar syndrome, type 1 is caused by mutations in the UGT1A1 gene. The condition is inherited in an autosomal recessive manner. Treatment relies on regular phototherapy throughout life. Blood transfusions and calcium compounds have also been used. Liver transplantation may be considered in some individuals.
Question: What causes Long QT syndrome ?

Answer: What causes long QT syndrome? Acquired long QT syndrome can be caused by certain medicines and medical conditions. Some medications that cause long QT syndrome include antihistamines and decongestants, antibiotics, antidepressants, and cholesterol-lowering medicines. Examples of medical conditions that can cause long QT syndrome include excessive diarrhea or vomiting and certain thyroid disorders. Inherited forms of long QT syndrome are caused by changes in genes that control the heart muscles electrical activity. Inherited long QT syndrome may be isolated (occur alone without other associated symptoms) or be due to a genetic syndrome, such as Romano-Ward syndrome, Jervell Lang-Nielsen syndrome, Anderson-Tawil syndrome, and Timothy syndrome.
Question: What is (are) X-linked creatine deficiency ?

Answer: X-linked creatine deficiency is a rare condition that primarily affects the brain. Signs and symptoms generally develop before age 2 and may include mild to severe intellectual disability; delayed speech development, behavioral problems (i.e. autistic features, hyperactivity), and seizures. Less commonly, affected people may have distinctive facial features, heart abnormalities, and gastrointestinal disorders. X-linked creatine deficiency is caused by changes (mutations) in the SLC6A8 gene and is inherited in an X-linked manner. Treatment with high doses of creatine monohydrate, L-arginine, and L-glycine has been used to treat some of the symptoms associated with X-linked creatine deficiency with variable success.
Question: How to prevent Alkhurma Hemorrhagic Fever (AHF) ?

Answer: Given that no treatment or specific prophylaxis is presently available, prevention and increased awareness of AHFV are the only recommended measures. Complete control of ticks and interruption of the virus life cycle is impractical; in endemic regions, it is important to avoid tick-infested areas and to limit contact with livestock and domestic animals.  
                
Individuals should use tick repellants on skin and clothes and check skin for attached ticks, removing them as soon as possible. Tick collars are available for domestic animals, and dipping in acaricides is effective in killing ticks on livestock. People working with animals or animal products in farms or slaughterhouses should avoid unprotected contact with the blood, fluids, or tissues of any potentially infected or viremic animals.
Question: What is (are) Absence of the Septum Pellucidum ?

Answer: The septum pellucidum (SP) is a thin membrane located at the midline of the brain between the two cerebral hemispheres, or halves of the brain.. It is connected to the corpus callosum -- a collection of nerve fibers that connect the cerebral hemispherers. This rare abnormality accompanies various malformations of the brain that affect intelligence, behavior, and the neurodevelopmental process, and seizures may occur. Children who are born without this membrane and also have other abnormalities--pituitary deficiencies and abnormal development of the optic disk--have a disorder known as septo-optic dysplasia. More information about this condition can be located at the NINDS Septo-Optic Dysplasia Information Page.
Question: what research (or clinical trials) is being done for Shingles ?

Answer: The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge of the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. The NINDS supports research on viral proteins and virus defense mechanisms in neurons to understand why the varicella-zoster virus establishes latency uniquely in neurons and not in other cell types. Other studies focus on how VZV travels along sensory nerve fibers, or axons, and its role in latency and viral reactivation. Scientists also hope to identify molecular mechanisms that regulate the expression of latent viral genes, which may lead to targeted therapy to prevent reactivation. Other studies hope to better understand cellular changes that lead to persistent pain.
Question: What are the treatments for Tethered Spinal Cord Syndrome ?

Answer: MRI imaging is often used to evaluate individuals with these symptoms, and can be used to diagnose the location of the tethering, lower than normal position of the conus medullaris, or presence of a tumor or fatty mass (lipoma). In children, early surgery is recommended to prevent further neurological deterioration. Regular follow-up is important: retethering may occur in some individuals during periods of rapid growth and may be seen between five to nine years of age. If surgery is not advisable, spinal cord nerve roots may be cut to relieve pain. In adults, surgery to free (detether) the spinal cord can reduce the size and further development of cysts in the cord and may restore some function or alleviate other symptoms. Other treatment is symptomatic and supportive.
Question: What are the treatments for uromodulin-associated kidney disease ?

Answer: These resources address the diagnosis or management of uromodulin-associated kidney disease:  - Gene Review: Gene Review: Autosomal Dominant Tubulointerstitial Kidney Disease, UMOD-Related (ADTKD-UMOD)  - Genetic Testing Registry: Familial juvenile gout  - Genetic Testing Registry: Glomerulocystic kidney disease with hyperuricemia and isosthenuria  - Genetic Testing Registry: Medullary cystic kidney disease 2   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 Langer-Giedion syndrome ?

Answer: Langer-Giedion syndrome is caused by the deletion or mutation of at least two genes on chromosome 8. Researchers have determined that the loss of a functional EXT1 gene is responsible for the multiple osteochondromas seen in people with Langer-Giedion syndrome. Loss of a functional TRPS1 gene may cause the other bone and facial abnormalities. The EXT1 gene and the TRPS1 gene are always missing or mutated in affected individuals, but other neighboring genes may also be involved. The loss of additional genes from this region of chromosome 8 likely contributes to the varied features of this condition.  Langer-Giedion syndrome is often described as a contiguous gene deletion syndrome because it results from the loss of several neighboring genes.
Question: What are the genetic changes related to X-linked infantile spasm syndrome ?

Answer: X-linked infantile spasm syndrome is caused by mutations in either the ARX gene or the CDKL5 gene. The proteins produced from these genes play a role in the normal functioning of the brain. The ARX protein is involved in the regulation of other genes that contribute to brain development. The CDKL5 protein is thought to regulate the activity of at least one protein that is critical for normal brain function. Researchers are working to determine how mutations in either of these genes lead to seizures and intellectual disability.  Infantile spasms can have nongenetic causes, such as brain malformations, other disorders that affect brain function, or brain damage. In addition, changes in genes that are not located on the X chromosome cause infantile spasms in rare cases.
Question: Is familial erythrocytosis inherited ?

Answer: Familial erythrocytosis can have different inheritance patterns depending on the gene involved.  When the condition is caused by mutations in the EPOR, EGLN1, or EPAS1 gene, it has an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means one copy of the altered gene in each cell is sufficient to cause the disorder. Most affected individuals inherit the altered gene from one affected parent.  When familial erythrocytosis is caused by mutations in the VHL gene, it has an autosomal recessive pattern of inheritance. Autosomal recessive inheritance 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.
Question: How many people are affected by oculopharyngeal muscular dystrophy ?

Answer: In Europe, the prevalence of oculopharyngeal muscular dystrophy is estimated to be 1 in 100,000 people. The autosomal dominant form of this condition is much more common in the French-Canadian population of the Canadian province of Quebec, where it is estimated to affect 1 in 1,000 individuals. Autosomal dominant oculopharyngeal muscular dystrophy is also seen more frequently in the Bukharan (Central Asian) Jewish population of Israel, affecting 1 in 600 people.  The autosomal recessive form of this condition is very rare; only a few cases of autosomal recessive oculopharyngeal muscular dystrophy have been identified.
Question: What are the treatments for myotonic dystrophy ?

Answer: These resources address the diagnosis or management of myotonic dystrophy:  - Gene Review: Gene Review: Myotonic Dystrophy Type 1  - Gene Review: Gene Review: Myotonic Dystrophy Type 2  - Genetic Testing Registry: Myotonic dystrophy type 2  - Genetic Testing Registry: Steinert myotonic dystrophy syndrome  - MedlinePlus Encyclopedia: Muscular Dystrophy  - University of Washington: Myotonic Dystrophy: Making an Informed Choice About Genetic Testing   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 cytochrome c oxidase deficiency ?

Answer: These resources address the diagnosis or management of cytochrome c oxidase deficiency:  - Cincinnati Children's Hospital: Acute Liver Failure  - Cincinnati Children's Hospital: Cardiomyopathies  - Genetic Testing Registry: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency  - Genetic Testing Registry: Cytochrome-c oxidase deficiency  - The United Mitochondrial Disease Foundation: Treatments and 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 frontonasal dysplasia ?

Answer: These resources address the diagnosis or management of frontonasal dysplasia:  - Genetic Testing Registry: Frontonasal dysplasia 1  - Genetic Testing Registry: Frontonasal dysplasia 2  - Genetic Testing Registry: Frontonasal dysplasia 3  - KidsHealth from Nemours: Cleft Lip and Palate  - MedlinePlus Encyclopedia: Head and Face Reconstruction  - Mount Sinai Hospital: Cleft Nasal Deformity  - University of Rochester Medical Center: Nasal Alveolar Molding   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 LAMA2-related muscular dystrophy ?

Answer: These resources address the diagnosis or management of LAMA2-related muscular dystrophy:  - Boston Children's Hospital: Treatment and Care for Muscular Dystrophy  - Gene Review: Gene Review: LAMA2-Related Muscular Dystrophy  - Genetic Testing Registry: Congenital muscular dystrophy due to partial LAMA2 deficiency  - Genetic Testing Registry: Merosin deficient congenital muscular dystrophy  - Kennedy Krieger Institute: Center for Genetic Muscle Disorders   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care
Question: What are the genetic changes related to juvenile polyposis syndrome ?

Answer: Mutations in the BMPR1A and SMAD4 genes cause juvenile polyposis syndrome. These genes provide instructions for making proteins that are involved in transmitting chemical signals from the cell membrane to the nucleus. This type of signaling pathway allows the environment outside the cell to affect how the cell produces other proteins. The BMPR1A and SMAD4 proteins work together to help regulate the activity of particular genes and the growth and division (proliferation) of cells.  Mutations in the BMPR1A gene or the SMAD4 gene disrupt cell signaling and interfere with their roles in regulating gene activity and cell proliferation. This lack of regulation causes cells to grow and divide in an uncontrolled way, which can lead to polyp formation.
Question: How to prevent Urinary Retention ?

Answer: People can prevent urinary retention before it occurs by treating some of the potential causes. For example, men with benign prostatic hyperplasia should take prostate medications as prescribed by their health care provider. Men with benign prostatic hyperplasia should avoid medications associated with urinary retention, such as over-the-counter cold and allergy medications that contain decongestants. Women with mild cystocele or rectocele may prevent urinary retention by doing exercises to strengthen the pelvic muscles. In most cases, dietary and lifestyle changes will help prevent urinary retention caused by constipation. People whose constipation continues should see a health care provider.
                
More information about exercises to strengthen the pelvic muscles is provided in the NIDDK health topic, Kegel Exercise Tips.
Question: What is (are) Alcohol Use and Older Adults ?

Answer: Blood alcohol concentration (BAC) measures the percentage of ethanolthe chemical name for alcohol in alcoholic beveragesin a persons blood. As you drink, you increase your blood alcohol concentration (BAC) level. The higher the BAC, the more impaired a person is. In all states, it is against the law for people to drive if their blood alcohol concentration is above .08. The effects of increased blood alcohol levels can include -  reduced inhibitions   -  slurred speech   - motor impairment   - confusion   -  memory problems   - concentration problems   - coma   - breathing problems   - death.  reduced inhibitions slurred speech motor impairment confusion memory problems concentration problems coma breathing problems death. Learn more about the risks of alcohol overdose.
Question: What are the treatments for Alcohol Use and Older Adults ?

Answer: There is not one right treatment for everyone with alcohol problems. In general, many people need more than one kind of treatment. Medicines can help people with alcohol use disorder quit drinking. Meeting with a therapist or substance-abuse counselor or with a support group may also help. Support from family and friends is important, too. A doctor can help a person decide on the best treatment. Making a change sooner rather than later makes treatment more likely to succeed. Learn more about treatment options for alcohol problems.  Learn more about available types of alcohol treatment.  (Watch the video to learn more about getting help for alcohol use disorder (AUD). To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.)