umarjan11/Medical-qna huggingface dataset:
Question: What causes Phacomatosis pigmentovascularis ?

Answer: What causes phacomatosis pigmentovascularis? Phacomatosis pigmentovascularis (PPV) is thought to occur as a result of a change in the arrangement of a small piece of genetic material in a developing embryo. Because of this change some of the baby's body cells carry two copies of recessive gene mutations while the majority of his or her body cells carry only one. Having two copies of the recessive gene mutations result in a diseased cell (and symptoms of PPV). This phenomenon is called twin spotting. PPV occurs by chance, it is not inherited, and affects only a subset of the body's cells. As a result risk to future offspring is very small.
Question: What is (are) Infantile-onset ascending hereditary spastic paralysis ?

Answer: Infantile-onset ascending hereditary spastic paralysis is a motor neuron disease characterized by progressive weakness and stiffness of muscles in the arms, legs, and face. Initial symptoms usually occur within the first 2 years of life and include weakness of the legs, leg muscles that are abnormally tight and stiff, and eventual paralysis of the legs. Over time, muscle weakness and stiffness travels up (ascends) the body from the legs to the head. Infantile-onset ascending hereditary spastic paralysisis caused by mutations in the ALS2 gene, and this condition is inherited in an autosomal recessive pattern.
Question: Who is at risk for Lujo Hemorrhagic Fever (LUHF)? ?

Answer: Like all arenaviruses, Lujo virus has a rodent host as its reservoir. Humans can contract LUHF through contact with an infected rodent. Contact can be direct or through inhalation of aerosolized Lujo virus from the urine or feces of infected rodents. 
 
Person-to-person transmission of Lujo virus was observed in the small, nosocomial cluster of hemorrhagic disease which resulted in the discovery of the Lujo virus. 
 
Transmission of arenaviruses, and Lujo virus in particular, is most likely the result of direct contact with the body fluids of an infected person, in the absence of infection control precautions.
Question: Is metatropic dysplasia inherited ?

Answer: Metatropic dysplasia is considered an autosomal dominant disorder because one mutated copy of the TRPV4 gene in each cell is sufficient to cause the condition. Most cases of metatropic dysplasia are caused by new mutations in the gene and occur in people with no history of the disorder in their family. In a few reported cases, an affected person has inherited the condition from an affected parent.  In the past, it was thought that the lethal type of metatropic dysplasia had an autosomal recessive pattern of inheritance, in which both copies of the gene in each cell have mutations. However, more recent research has confirmed that all metatropic dysplasia has an autosomal dominant pattern of inheritance.
Question: What are the genetic changes related to lymphedema-distichiasis syndrome ?

Answer: Lymphedema-distichiasis syndrome is caused by mutations in the FOXC2 gene. The FOXC2 gene provides instructions for making a protein that plays a critical role in the formation of many organs and tissues before birth. The FOXC2 protein is a transcription factor, which means that it attaches (binds) to specific regions of DNA and helps control the activity of many other genes. Researchers believe that the FOXC2 protein has a role in a variety of developmental processes, such as the formation of veins and the development of the lungs, eyes, kidneys and urinary tract, cardiovascular system, and the transport system for immune cells (lymphatic vessels).
Question: What are the treatments for Usher syndrome ?

Answer: These resources address the diagnosis or management of Usher syndrome:  - Gene Review: Gene Review: Usher Syndrome Type I  - Gene Review: Gene Review: Usher Syndrome Type II  - Genetic Testing Registry: Usher syndrome type 2  - Genetic Testing Registry: Usher syndrome, type 1  - Genetic Testing Registry: Usher syndrome, type 3A  - MedlinePlus Encyclopedia: Retinitis Pigmentosa   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 diastrophic dysplasia ?

Answer: Diastrophic dysplasia is one of several skeletal disorders caused by mutations in the SLC26A2 gene. This gene provides instructions for making a protein that is essential for the normal development of cartilage and for its conversion to bone. Cartilage is a tough, flexible tissue that makes up much of the skeleton during early development. Most cartilage is later converted to bone, except for the cartilage that continues to cover and protect the ends of bones and is present in the nose and external ears. Mutations in the SLC26A2 gene alter the structure of developing cartilage, preventing bones from forming properly and resulting in the skeletal problems characteristic of diastrophic dysplasia.
Question: What are the treatments for familial idiopathic basal ganglia calcification ?

Answer: These resources address the diagnosis or management of FIBGC:  - Dystonia Medical Research Foundation: Treatments  - Gene Review: Gene Review: Primary Familial Brain Calcification  - Genetic Testing Registry: Basal ganglia calcification, idiopathic, 2  - Genetic Testing Registry: Basal ganglia calcification, idiopathic, 4  - Genetic Testing Registry: Idiopathic basal ganglia calcification 1   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 Emanuel syndrome inherited ?

Answer: Almost everyone with Emanuel syndrome inherits the der(22) chromosome from an unaffected parent. The parent carries a chromosomal rearrangement between chromosomes 11 and 22 called a balanced translocation. No genetic material is gained or lost in a balanced translocation, so these chromosomal changes usually do not cause any health problems. However, translocations can become unbalanced as they are passed to the next generation. Individuals with Emanuel syndrome inherit an unbalanced translocation between chromosomes 11 and 22 that introduces extra genetic material in the form of the der(22) chromosome. This extra genetic material causes birth defects and the other health problems characteristic of this disorder.
Question: Is septo-optic dysplasia inherited ?

Answer: Septo-optic dysplasia is usually sporadic, which means that the condition typically occurs in people with no history of the disorder in their family.  Less commonly, septo-optic dysplasia has been found to run in families. Most familial cases appear to have an autosomal recessive pattern of inheritance, which means that both copies of an 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. In a few affected families, the disorder has had an autosomal dominant pattern of inheritance, which means one copy of an altered gene in each cell is sufficient to cause the condition.
Question: What are the treatments for Kidney Stones in Children ?

Answer: The treatment for a kidney stone usually depends on its size and what it is made of, as well as whether it is causing symptoms of pain or obstructing the urinary tract. Small stones usually pass through the urinary tract without treatment. Still, children will often require pain control and encouragement to drink lots of fluids to help move the stone along. Pain control may consist of oral or intravenous (IV) medication, depending on the duration and severity of the pain. IV fluids may be needed if the child becomes dehydrated from vomiting or an inability to drink. A child with a larger stone, or one that blocks urine flow and causes great pain, may need to be hospitalized for more urgent treatment. Hospital treatments may include the following:
Question: What are the treatments for Urinary Tract Infections ?

Answer: Because most UTIs are caused by bacteria, bacteria-fighting medications called antibiotics are the usual treatment. The type of antibiotic and length of treatment depend on the patients history and the type of bacteria causing the infection. Bladder infections may eventually get better on their own. But antibiotics can make the symptoms go away much more quickly. People usually feel better within a day or two of starting antibiotics. Drinking lots of fluids and urinating often may also speed healing. If needed, pain-killers can relieve the pain of a UTI. A heating pad on the back or abdomen may also help. Learn more about treating urinary tract infections.
Question: What causes Diabetic Retinopathy ?

Answer: Blood vessels damaged from diabetic retinopathy can cause vision loss in two ways. Fragile, abnormal blood vessels can develop and leak blood into the center of the eye, blurring vision. This is proliferative retinopathy and is the fourth and most advanced stage of the disease. Fluid can leak into the center of the macula, the part of the eye where sharp, straight-ahead vision occurs. The fluid makes the macula swell, blurring vision. This condition is called macular edema. It can occur at any stage of diabetic retinopathy, although it is more likely to occur as the disease progresses. About half of the people with proliferative retinopathy also have macular edema.
Question: Who is at risk for Shingles? ?

Answer: The leading risk factor for shingles is a history of having had chickenpox. One out of every five people who have had chickenpox is likely to get shingles. Another risk factor is aging. As we age, our natural immunity gradually loses its ability to protect against infection. The shingles virus can take advantage of this and become active again. Conditions that weaken the immune system can also put people at risk for shingles. Shingles is especially dangerous for anyone who has had cancer, radiation treatments for cancer, HIV/AIDS, or a transplant operation. Our immune system gradually loses strength as we mature. After people reach 50, the body is not able to fight off infections as easily as it once did.
Question: What is (are) Arm Injuries and Disorders ?

Answer: Of the 206 bones in your body, 3 of them are in your arm; the humerus, radius and ulna. Your arms are also made up of muscles, joints, tendons and other connective tissue. Injuries to any of these parts of the arm can occur during sports, a fall or an accident.    Types of arm injuries include        - Tendinitis and bursitis    - Sprains    - Dislocations    - Broken bones       Some nerve problems, arthritis, or cancers can affect the entire arm and cause pain, spasms, swelling and trouble moving. You may also have problems or injure specific parts of your arm, such as your hand, wrist, elbow or shoulder.
Question: Do you have information about Eye Wear

Answer: Summary : Eye wear protects or corrects your vision. Examples are       - Sunglasses    - Safety goggles    - Glasses (also called eyeglasses)    - Contact lenses       If you need corrective lenses, you may be able to choose between contacts or glasses. Either usually requires a prescription. Almost anyone can wear glasses. Contact lenses require more careful handling.     Many jobs and some sports carry a risk of eye injury. Thousands of children and adults get eye injuries every year. Most are preventable with proper eye protection. Everyone is at risk for eye damage from the sun year-round. It's important to regularly use sunglasses that block out at least 99 percent of UV rays.
Question: What is (are) Bowel Incontinence ?

Answer: Bowel incontinence is the inability to control your bowels. When you feel the urge to have a bowel movement, you may not be able to hold it until you get to a toilet. Millions of Americans have this problem. It affects people of all ages - children and adults. It is more common in women and older adults. It is not a normal part of aging.    Causes include       - Constipation    - Damage to muscles or nerves of the anus and rectum    - Diarrhea    - Pelvic support problems       Treatments include changes in diet, medicines, bowel training, or surgery.     NIH: National Institute of Diabetes and Digestive and Kidney Diseases
Question: What is (are) Corns and Calluses ?

Answer: Corns and calluses are caused by pressure or friction on your skin. They often appear on feet where the bony parts of your feet rub against your shoes. Corns usually appear on the tops or sides of toes while calluses form on the soles of feet. Calluses also can appear on hands or other areas that are rubbed or pressed.    Wearing shoes that fit better or using non-medicated pads may help. While bathing, gently rub the corn or callus with a washcloth or pumice stone to help reduce the size. To avoid infection, do not try to shave off the corn or callus. See your doctor, especially if you have diabetes or circulation problems.    NIH: National Institute on Aging
Question: What is (are) Domestic Violence ?

Answer: Domestic violence is a type of abuse. It usually involves a spouse or partner, but it can also be a child, elderly relative, or other family member.    Domestic violence may include       - Physical violence that can lead to injuries such as bruises or broken bones    - Sexual violence    - Threats of physical or sexual violence    - Emotional abuse that may lead to depression, anxiety, or social isolation       It is hard to know exactly how common domestic violence is, because people often don't report it. There is no typical victim. It happens among people of all ages. It affects those of all levels of income and education.    The first step in getting help is to tell someone you trust.    Centers for Disease Control and Prevention
Question: What is (are) Back Injuries ?

Answer: Your back is made of bones, muscles, and other tissues extending from your neck to your pelvis. Back injuries can result from sports injuries, work around the house or in the garden, or a sudden jolt such as a car accident. The lower back is the most common site of back injuries and back pain. Common back injuries include        - Sprains and strains     -  Herniated disks    -  Fractured vertebrae       These injuries can cause pain and limit your movement. Treatments vary but might include medicines, icing, bed rest, physical therapy, or surgery. You might be able to prevent some back injuries by maintaining a healthy weight, lifting objects with your legs, and using lower-back support when you sit.
Question: Do you have information about Cancer--Living with Cancer

Answer: Summary : Cancer is common. Half of all men and a third of women will get a diagnosis of cancer in their lifetime. Many people with cancer do survive. Millions of Americans alive today have a history of cancer.    For most people with cancer, living with the disease is the biggest challenge they have ever faced. It can change your routines, roles and relationships. It can cause money and work problems. The treatment can change the way you feel and look. Learning more about ways you can help yourself may ease some of your concerns. Support from others is important.    All cancer survivors should have follow-up care. Knowing what to expect after cancer treatment can help you and your family make plans, lifestyle changes, and important decisions.    NIH: National Cancer Institute
Question: What is (are) Eye Injuries ?

Answer: The structure of your face helps protect your eyes from injury. Still, injuries can damage your eye, sometimes severely enough that you could lose your vision. Most eye injuries are preventable. If you play sports or work in certain jobs, you may need protection.    The most common type of injury happens when something irritates the outer surface of your eye. Certain jobs such as industrial jobs or hobbies such as carpentry make this type of injury more likely. It's also more likely if you wear contact lenses.    Chemicals or heat can burn your eyes. With chemicals, the pain may cause you to close your eyes. This traps the irritant next to the eye and may cause more damage. You should wash out your eye right away while you wait for medical help.
Question: Do you have information about Drinking Water

Answer: Summary : We all need to drink water. How much you need depends on your size, activity level, and the weather where you live.    The water you drink is a combination of surface water and groundwater. Surface water includes rivers, lakes and reservoirs. Groundwater comes from underground. The United States has one of the safest water supplies in the world, but drinking water quality can vary from place to place. It depends on the condition of the source water and the treatment it receives. Treatment may include adding fluoride to prevent cavities and chlorine to kill germs.     Your water supplier must give you annual reports on drinking water. The reports include where your water came from and what contaminants are in it.    Centers for Disease Control and Prevention
Question: What is (are) Trichorhinophalangeal syndrome type 1 ?

Answer: Trichorhinophalangeal syndrome type 1 (TRPS1) is an extremely rare inherited multisystem disorder. TRPS1 is characterized by a distinctive facial appearance that includes sparse scalp hair; a rounded nose; a long, flat area between the nose and the upper lip (philtrum); and a thin upper lip. Individuals with this condition also have skeletal abnormalities such as cone-shaped epiphyses in their fingers and toes and short stature. The range and severity of symptoms may vary from case to case. Transmission of TRPS1 is autosomal dominant, linked to mutations in the TRPS1 gene localized to 8q24.12.
Question: What is (are) Beare-Stevenson cutis gyrata syndrome ?

Answer: Beare-Stevenson  cutis gyrata syndrome is a genetic condition characterized by skin abnormalities (cutis gyrata, which causes a furrowed and wrinkled appearance, and acanthosis nigricans) and the premature fusion of certain bones of the skull (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. Beare-Stevenson cutis gyrata syndrome is caused by mutations in the FGFR2 gene. It is inherited in an autosomal dominant pattern, although all reported cases have resulted from new mutations in the gene and occurred in people with no history of the disorder in their family.
Question: What is (are) Hypoplastic left heart syndrome ?

Answer: Hypoplastic left heart syndrome (HLHS) is a problem with the hearts structure that is present at birth (congenital). It occurs when parts of the left side of the heart (mitral valve, left ventricle, aortic valve, and aorta) do not develop completely. The underdeveloped left side of the heart is unable to provide enough blood flow to the body, which decreases the oxygen-rich blood supply. Babies with HLHS might look normal at birth, but will develop symptoms of HLHS within a few days. These symptoms might include: poor feeding, problems breathing, pounding heart, weak pulse, and ashen or bluish skin color. The cause of HLHs is presently unknown.
Question: What is (are) Lichen sclerosus ?

Answer: Lichen sclerosus is a chronic skin disorder that is more common in women, most often affecting the external part of the vagina (vulva) or the area around the anus. In men, it typically affects the tip of the penis. It can occur at any age but is usually seen in women over age 50. Some people have no symptoms, while others may experience itchiness (sometimes severe), discomfort, or blistering. It often lasts for years and can cause permanent scarring. The underlying cause of lichen sclerosus is not fully understood but it is thought to relate to an autoimmune process. Treatment may include topical steroids or other types of topical creams and/or surgery.
Question: What is (are) Plasmablastic lymphoma ?

Answer: Plasmablastic lymphoma is an aggressive form of non-Hodgkin lymphoma. Although the condition most commonly occurs in the oral cavity, it can be diagnosed in many other parts of the body such as the gastrointestinal tract, lymph nodes, and skin. The exact underlying cause of plasmablastic lymphoma is poorly understood; however, it is often associated with suppression of the immune system (i.e. HIV infection, immunosuppressive therapy). There is currently no standard therapy for plasmablastic lymphoma. Treatment usually consists of chemotherapy with or without radiation therapy and hematopoietic stem cell transplantation.
Question: What causes Holt-Oram syndrome ?

Answer: What causes Holt-Oram syndrome? Holt-Oram syndrome is caused by changes (mutations) in the TBX5 gene. This gene gives the body instructions for making a protein involved in the development of the heart and upper limbs before birth. In particular, this gene seems important for dividing the developing heart into four chambers, and in regulating the development of bones in the arms and hands. When the TBX5 gene doesn't function properly, the features of Holt-Oram syndrome result. In some cases the mutation occurs for the first time in an affected person, while in other cases the mutation is inherited from a parent. However, in both of these cases, there is nothing a parent can do to cause this mutation or condition in a child.
Question: What are the treatments for Polymyositis ?

Answer: How might polymyositis be treated? The treatment of polymyositis is based on the signs and symptoms present in each person. Although there is currently no cure, symptoms of the condition may be managed with the following: Medications such as corticosteroids, corticosteroid-sparing agents, immunosuppressive drugs Physical therapy to improve muscle strength and flexibility Speech therapy to address difficulties with swallowing and speech Intravenous immunoglobulin (healthy antibodies are given to block damaging autoantibodies that attack muscle) Medscape Reference's Web site offers more specific information regarding the treatment and management of polymyositis. Please click on the link to access the resource.
Question: What is (are) Ellis-Van Creveld syndrome ?

Answer: Ellis-Van Creveld syndrome is an inherited condition that affects bone growth. Affected people generally have short stature; short arms and legs (especially the forearm and lower leg); and a narrow chest with short ribs. Other signs and symptoms may include polydactyly; missing and/or malformed nails; dental abnormalities; and congenital heart defects. More than half of people affected by Ellis-van Creveld syndrome have changes (mutations) in the EVC or EVC2 genes; the cause of the remaining cases is unknown. The condition is inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.
Question: What is (are) Cowden syndrome ?

Answer: Cowden syndrome is an inherited condition that is characterized primarily by multiple, noncancerous growths (called hamartomas) on various parts of the body. It is considered part of the PTEN Hamartoma Tumor Syndrome spectrum which also includes Bannayan-Riley-Ruvalcaba syndrome and Proteus syndrome. People affected by Cowden syndrome are also at an increased risk of developing certain types of cancer, such as breast, thyroid and endometrial (lining of the uterus) cancer. Most cases are caused by changes (mutations) in the PTEN gene and are inherited in an autosomal dominant manner. Management typically includes high-risk screening for associated tumors and/or prophylactic surgeries.