umarjan11/Medical-qna huggingface dataset:
Question: Is Glycogen storage disease type 4 inherited ?

Answer: How is glycogen storage disease type 4 inherited? Glycogen storage disease type 4 is inherited in an autosomal recessive manner. This means that an individual must have 2 abnormal copies of the GBE1 gene to be affected (one abnormal copy inherited from each parent). Individuals with one abnormal copy of the GBE1 gene, such as the parents of an affected individual, are referred to as carriers. Carriers typically do not have signs or symptoms of an autosomal recessive condition. When two carriers of an autosomal recessive condition are having children, each of their children has a 25% (1 in 4) risk to be affected, a 50% (1 in 2) risk to be a carrier like each parent, and a 25% chance to not be a carrier and not be affected.
Question: What causes Mitral Valve Prolapse ?

Answer: The exact cause of mitral valve prolapse (MVP) isn't known. Most people who have the condition are born with it. MVP tends to run in families. Also, it's more common in people who are born with connective tissue disorders, such as Marfan syndrome.
                
In people who have MVP, the mitral valve may be abnormal in the following ways:
                
The valve flaps may be too large and thick.
                
The valve flaps may be "floppy." The tissue of the flaps and their supporting "strings" are too stretchy, and parts of the valve flop or bulge back into the atrium.
                
The opening of the valve may stretch.
                
These problems can keep the valve from making a tight seal. Some people's valves are abnormal in more than one way.
Question: What is (are) Cephalic Disorders ?

Answer: Cephalic disorders are congenital conditions that stem from damage to or abnormal development of the budding nervous system. Most cephalic disorders are caused by a disturbance that occurs very early in the development of the fetal nervous system. Damage to the developing nervous system is a major cause of chronic, disabling disorders, and sometimes death in infants, children, and even adults. Cephalic disorders may be influenced by hereditary or genetic conditions or by environmental exposures during pregnancy (e.g., medication taken by the mother, maternal infection, exposure to radiation). Some cephalic disorders occur when the cranial sutures (the fibrous joints that connect the bones of the skull) join prematurely. Understanding the normal development of the human nervous system may lead to a better understanding of cephalic disorders.
Question: What is the outlook for Meningitis and Encephalitis ?

Answer: The prognosis for for people with encephalitis or meningitis varies. Some cases are mild, short and relatively benign and individuals have full recovery, although the process may be slow. Individuals who experience mild symptoms may recover in 2-4 weeks. Other cases are severe, and permanent impairment or death is possible. The acute phase of encephalitis may last for 1 to 2 weeks, with gradual or sudden resolution of fever and neurological symptoms. Individuals treated for bacterial meningitis typically show some relief within 48-72 hours. Neurological symptoms may require many months before full recovery. With early diagnosis and prompt treatment, most individuals recover from meningitis. However, in some cases, the disease progresses so rapidly that death occurs during the first 48 hours, despite early treatment.
Question: What are the treatments for Emery-Dreifuss muscular dystrophy ?

Answer: These resources address the diagnosis or management of Emery-Dreifuss muscular dystrophy:  - Gene Review: Gene Review: Emery-Dreifuss Muscular Dystrophy  - Genetic Testing Registry: Emery-Dreifuss muscular dystrophy  - Genetic Testing Registry: Emery-Dreifuss muscular dystrophy 1, X-linked  - MedlinePlus Encyclopedia: Arrhythmias  - MedlinePlus Encyclopedia: Contracture deformity  - MedlinePlus Encyclopedia: Muscular dystrophy   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 multiple lentigines syndrome ?

Answer: These resources address the diagnosis or management of multiple lentigines syndrome:  - Cincinnati Children's Hospital: Cardiomyopathies  - Gene Review: Gene Review: Noonan Syndrome with Multiple Lentigines  - Genetic Testing Registry: LEOPARD syndrome 1  - Genetic Testing Registry: LEOPARD syndrome 2  - Genetic Testing Registry: LEOPARD syndrome 3  - Genetic Testing Registry: Noonan syndrome with multiple lentigines  - MedlinePlus Encyclopedia: Hypertrophic Cardiomyopathy   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 adult-onset leukoencephalopathy with axonal spheroids and pigmented glia ?

Answer: ALSP is caused by mutations in the CSF1R gene. This gene provides instructions for making a protein called colony stimulating factor 1 receptor (CSF-1 receptor), which is found in the outer membrane of certain types of cells, including glial cells. The CSF-1 receptor triggers signaling pathways that control many important cellular processes, such as cell growth and division (proliferation) and maturation of the cell to take on specific functions (differentiation).  CSF1R gene mutations in ALSP lead to an altered CSF-1 receptor protein that is likely unable to stimulate cell signaling pathways. However, it is unclear how the gene mutations lead to white matter damage or cognitive and movement problems in people with ALSP.
Question: What are the genetic changes related to Floating-Harbor syndrome ?

Answer: Floating-Harbor syndrome is caused by mutations in the SRCAP gene. This gene provides instructions for making a protein called Snf2-related CREBBP activator protein, or SRCAP. SRCAP is one of several proteins that help activate a gene called CREBBP. The protein produced from the CREBBP gene plays a key role in regulating cell growth and division and is important for normal development.  Mutations in the SRCAP gene may result in an altered protein that interferes with normal activation of the CREBBP gene, resulting in problems in development. However, the relationship between SRCAP gene mutations and the specific signs and symptoms of Floating-Harbor syndrome is unknown. Rubinstein-Taybi syndrome, a disorder with similar features, is caused by mutations in the CREBBP gene itself.
Question: What are the genetic changes related to glutathione synthetase deficiency ?

Answer: Mutations in the GSS gene cause glutathione synthetase deficiency. The GSS gene provides instructions for making an enzyme called glutathione synthetase. This enzyme is involved in a process called the gamma-glutamyl cycle, which takes place in most of the body's cells. This cycle is necessary for producing a molecule called glutathione. Glutathione protects cells from damage caused by unstable oxygen-containing molecules, which are byproducts of energy production. Glutathione is called an antioxidant because of its role in protecting cells from the damaging effects of these unstable molecules. Mutations in the GSS gene prevent cells from making adequate levels of glutathione, leading to the signs and symptoms of glutathione synthetase deficiency.
Question: What are the treatments for Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis ?

Answer: These resources address the diagnosis or management of NFJS/DPR:  - Foundation for Ichthyosis and Related Skin Types (FIRST): Palmoplantar Keratodermas  - Genetic Testing Registry: Dermatopathia pigmentosa reticularis  - Genetic Testing Registry: Naegeli-Franceschetti-Jadassohn syndrome  - MedlinePlus Encyclopedia: Ectodermal Dysplasia  - MedlinePlus Encyclopedia: Nail Abnormalities   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) multiple cutaneous and mucosal venous malformations ?

Answer: Multiple cutaneous and mucosal venous malformations (also known as VMCM) are bluish patches (lesions) on the skin (cutaneous) and the mucous membranes, such as the lining of the mouth and nose. These lesions represent areas where the underlying veins and other blood vessels did not develop properly (venous malformations). The lesions can be painful, especially when they extend from the skin into the muscles and joints, or when a calcium deposit forms within the lesion causing inflammation and swelling.  Most people with VMCM are born with at least one venous malformation. As affected individuals age, the lesions present from birth usually become larger and new lesions often appear. The size, number, and location of venous malformations vary among affected individuals, even among members of the same family.
Question: What is (are) Mineral and Bone Disorder in Chronic Kidney Disease ?

Answer: Mineral and bone disorder in CKD occurs when damaged kidneys and abnormal hormone levels cause calcium and phosphorus levels in a persons blood to be out of balance. Mineral and bone disorder commonly occurs in people with CKD and affects most people with kidney failure receiving dialysis.
                
In the past, health care providers used the term renal osteodystrophy to describe mineral and hormone disturbances caused by kidney disease. Today, renal osteodystrophy only describes bone problems that result from mineral and bone disorder in CKD. Health care providers might use the phrase chronic kidney disease mineral and bone disorder, or CKD-MBD, to describe the condition that affects the bones, heart, and blood vessels.
Question: what research (or clinical trials) is being done for Anxiety Disorders ?

Answer: Clinical trials are part of clinical research and at the heart of all treatment advances. Clinical trials look at new ways to prevent, detect, or treat disease. The National Institute of Mental Health at NIH supports research studies on mental health and disorders. To learn how clinical trials work, see  Participating in Clinical Trials. To see NIH-funded studies currently recruiting participants in anxiety disorders, visit www.ClinicalTrials.gov  and type in "anxiety disorders." Clinical Trials.gov is the NIH/National Library of Medicine's registry of federally and privately funded clinical trials for all disease. To see personal stories of people who have volunteered for clinical trials, visit  NIH Clinical Trials Research and You.
Question: What is (are) Age-related Macular Degeneration ?

Answer: Age-related macular degeneration, also known as AMD, is an eye disease that affects the macula, a part of the retina. The retina sends light from the eye to the brain, and the macula allows you to see fine detail. AMD Blurs Central Vision AMD blurs the sharp central vision you need for straight-ahead activities such as reading, sewing, and driving. AMD causes no pain. How AMD Progresses In some cases, AMD advances so slowly that people notice little change in their vision. In others, the disease progresses faster and may lead to a loss of vision in both eyes. AMD is a common eye condition among people age 50 and older. It is a leading cause of vision loss in older adults. Two Forms of AMD There are two forms of age-related macular degeneration -- dry and wet.
Question: What is (are) Prescription and Illicit Drug Abuse ?

Answer: Physical dependence is a normal process that can happen to anyone taking a medication for a long time. It means that the body (including the brain) is adapting to the presence of the drug, and the person may require a higher dosage or a different medication to get relief; this condition is known as tolerance. They may also suffer from withdrawal or feel sick when they stop taking the medication abruptly. However, the symptoms of withdrawal can usually be prevented or managed by a physician, which is why it is so important to talk to a doctor before stopping a medication. Someone who is addicted to a drug may also be physically dependent on it, but rather than benefitting from the drugs effects, an addicted person will continue to get worse with continued or increasing drug abuse. An addicted person compulsively seeks and abuses drugs, despite their negative consequences.
Question: What is (are) Cataract ?

Answer: Yes. There are two types of cataract surgery, phacoemulsification and extracapsular surgery. Your doctor can explain the differences and help determine which is better for you. With phacoemulsification, or phaco, a small incision is made on the side of the cornea, the clear, dome-shaped surface that covers the front of the eye. Your doctor inserts a tiny probe into the eye. This device emits ultrasound waves that soften and break up the lens so that it can be removed by suction. Most cataract surgery today is done by phacoemulsification, also called "small incision cataract surgery." With extracapsular surgery, your doctor makes a longer incision on the side of the cornea and removes the cloudy core of the lens in one piece. The rest of the lens is removed by suction.
Question: What is (are) Campylobacter Infections ?

Answer: Campylobacter infection is a common foodborne illness. You get it from eating raw or undercooked poultry. You can also get it from coming in contact with contaminated packages of poultry. Symptoms include        - Diarrhea    - Cramping    - Abdominal pain    - Fever     - Nausea and vomiting       Some infected people don't have any symptoms. The illness usually lasts one week. Most people get better without treatment. You should drink extra fluids for as long as the diarrhea lasts. Your doctor will decide whether you need to take antibiotics.     To prevent campylobacter infection, cook poultry thoroughly. Use a separate cutting board and utensils for meats and clean them carefully with soap and hot water after use.    Centers for Disease Control and Prevention
Question: What is (are) Scars ?

Answer: A scar is a permanent patch of skin that grows over a wound. It forms when your body heals itself after a cut, scrape, burn, or sore. You can also get scars from surgery that cuts through the skin, infections like chickenpox, or skin conditions like acne. Scars are often thicker, as well as pinker, redder, or shinier, than the rest of your skin.     How your scar looks depends on       - How big and deep your wound is    - Where it is     - How long it takes to heal     - Your age    - Your inherited tendency to scar       Scars usually fade over time but never go away completely. If the way a scar looks bothers you, various treatments might minimize it. These include surgical revision, dermabrasion, laser treatments, injections, chemical peels, and creams.
Question: Do you have information about Tonsils and Adenoids

Answer: Summary : Your tonsils and adenoids are part of your lymphatic system. Your tonsils are in the back of your throat. Your adenoids are higher up, behind your nose. Both help protect you from infection by trapping germs coming in through your mouth and nose.    Sometimes your tonsils and adenoids become infected. Tonsillitis makes your tonsils sore and swollen and causes a sore throat. Enlarged adenoids can be sore, make it hard to breathe and cause ear problems.    The first treatment for infected tonsils and adenoids is antibiotics. If you have frequent infections or trouble breathing, you may need surgery. Surgery to remove the tonsils is tonsillectomy. Surgery to remove adenoids is adenoidectomy.
Question: What is (are) Ehlers-Danlos Syndrome ?

Answer: Ehlers-Danlos syndrome (EDS) is a group of inherited disorders that weaken connective tissues. Connective tissues are proteins that support skin, bones, blood vessels, and other organs.     EDS usually affects your skin, joints and blood vessel walls. Symptoms include       -  Loose joints     -  Fragile, small blood vessels     -  Abnormal scar formation and wound healing     -  Soft, velvety, stretchy skin that bruises easily        There are several types of EDS. They can range from mild to life-threatening. About 1 in 5,000 people has EDS. There is no cure. Treatment involves managing symptoms, often with medicines and physical therapy. It also includes learning how to protect your joints and prevent injuries.
Question: What is (are) Benign Tumors ?

Answer: Tumors are abnormal growths in your body. They are made up of extra cells. Normally, cells grow and divide to form new cells as your body needs them. When cells grow old, they die, and new cells take their place. Sometimes, this process goes wrong. New cells form when your body does not need them, and old cells do not die when they should. When these extra cells form a mass, it is called a tumor.    Tumors can be either benign or malignant. Benign tumors aren't cancer. Malignant ones are. Benign tumors grow only in one place. They cannot spread or invade other parts of your body. Even so, they can be dangerous if they press on vital organs, such as your brain.    Treatment often involves surgery. Benign tumors usually don't grow back.    NIH: National Cancer Institute
Question: What is (are) Gangrene ?

Answer: Gangrene is the death of tissues in your body. It happens when a part of your body loses its blood supply. Gangrene can happen on the surface of the body, such as on the skin, or inside the body, in muscles or organs. Causes include       - Serious injuries    - Problems with blood circulation, such as atherosclerosis and peripheral arterial disease    - Diabetes       Skin symptoms may include a blue or black color, pain, numbness, and sores that produce a foul-smelling discharge. If the gangrene is internal, you may run a fever and feel unwell, and the area may be swollen and painful.    Gangrene is a serious condition. It needs immediate attention. Treatment includes surgery, antibiotics, and oxygen therapy. In severe cases an amputation may be necessary.
Question: What is (are) Platelet Disorders ?

Answer: Platelets are little pieces of blood cells. Platelets help wounds heal and prevent bleeding by forming blood clots. Your bone marrow makes platelets. Problems can result from having too few or too many platelets, or from platelets that do not work properly.      If your blood has a low number of platelets, it is called thrombocytopenia. This can put you at risk for mild to serious bleeding. If your blood has too many platelets, you may have a higher risk of blood clots. With other platelet disorders, the platelets do not work as they should. For example, in von Willebrand Disease, the platelets cannot stick together or cannot attach to blood vessel walls. This can cause excessive bleeding.      Treatment of platelet disorders depends on the cause.     NIH: National Heart, Lung, and Blood Institute
Question: What is (are) Athlete's Foot ?

Answer: Athlete's foot is a common infection caused by a fungus. It most often affects the space between the toes. Symptoms include itching, burning, and cracked, scaly skin between your toes.    You can get athlete's foot from damp surfaces, such as showers, swimming pools, and locker room floors. To prevent it       - Keep your feet clean, dry, and cool    - Wear clean socks    - Don't walk barefoot in public areas    - Wear flip-flops in locker room showers    - Keep your toenails clean and clipped short       Treatments include over-the-counter antifungal creams for most cases and prescription medicines for more serious infections. These usually clear up the infection, but it can come back.    Centers for Disease Control and Prevention
Question: What is (are) Heart Diseases--Prevention ?

Answer: Heart disease is the leading cause of death in the U.S. It is also a major cause of disability. The risk of heart disease increases as you age. You have a greater risk of heart disease if you are a man over age 45 or a woman over age 55. You also are at greater risk if you have a close family member who had heart disease at an early age.     Fortunately, there are many things you can do reduce your chances of getting heart disease. You should        -  Know your blood pressure and keep it under control    -  Exercise regularly     -  Don't smoke     -  Get tested for diabetes and if you have it, keep it under control    -  Know your cholesterol and triglyceride levels and keep them under control    -  Eat a lot of fruits and vegetables     -  Maintain a healthy weight
Question: What is (are) Diabetes Complications ?

Answer: If you have diabetes, your blood glucose, or blood sugar, levels are too high. Over time, this can cause problems with other body functions, such as your kidneys, nerves, feet, and eyes. Having diabetes can also put you at a higher risk for heart disease and bone and joint disorders. Other long-term complications of diabetes include skin problems, digestive problems, sexual dysfunction, and problems with your teeth and gums.     Very high or very low blood sugar levels can also lead to emergencies in people with diabetes. The cause can be an underlying infection, certain medicines, or even the medicines you take to control your diabetes. If you feel nauseated, sluggish or shaky, seek emergency care.    NIH: National Institute of Diabetes and Digestive and Kidney Diseases
Question: What is (are) Drug Abuse ?

Answer: Drug abuse is a serious public health problem that affects almost every community and family in some way. Each year drug abuse causes millions of serious illnesses or injuries among Americans. Abused drugs include       - Methamphetamine    - Anabolic steroids    - Club drugs    - Cocaine    - Heroin    - Inhalants    - Marijuana    - Prescription drugs       Drug abuse also plays a role in many major social problems, such as drugged driving, violence, stress, and child abuse. Drug abuse can lead to homelessness, crime, and missed work or problems with keeping a job. It harms unborn babies and destroys families. There are different types of treatment for drug abuse. But the best is to prevent drug abuse in the first place.     NIH: National Institute on Drug Abuse
Question: What is (are) Factor V Leiden thrombophilia ?

Answer: Factor V Leiden thrombophilia is an inherited disorder that results in an increased risk of developing abnormal blood clots. Factor V Leiden is the name of a specific gene mutation in the F5 gene. This gene plays a critical role in the normal formation of blood clots in response to an injury. People can inherit one or two copies of the factor V Leiden gene mutation. Those who inherit one copy are called heterozygotes. People who inherit two copies of the mutation, one from each parent, are called homozygotes. Having the factor V Leiden mutation increases your risk for developing a clot in your legs called a deep venous thrombosis (DVT). It also increases your risk of developing a clot that travels through the bloodstream and lodges in the lungs, called a pulmonary embolism (PE).
Question: What is (are) Asthma ?

Answer: Asthma is a breathing disorder that affects the airways. People with this condition experience recurrent swelling and narrowing of the airways of the lungs which is associated with wheezing, shortness of breath, chest tightness, and coughing. Most affected people have episodes of symptoms ("asthma attacks") followed by symptom-free periods; however, some may experience persistent shortness of breath in between attacks. Asthma is considered a complex or multifactorial condition that is likely due to a combination of multiple genetic, environmental, and lifestyle factors. Many people with asthma have a personal or family history of allergies, such as hay fever or eczema. Having a family member with asthma is associated with an increased risk of developing the condition. Treatment generally includes various medications, both to prevent asthma attacks and to provide quick relief during an attack.