umarjan11/Medical-qna huggingface dataset:
Question: Is osteogenesis imperfecta inherited ?

Answer: Most cases of osteogenesis imperfecta have an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the condition. Many people with type I or type IV osteogenesis imperfecta inherit a mutation from a parent who has the disorder. Most infants with more severe forms of osteogenesis imperfecta (such as type II and type III) have no history of the condition in their family. In these infants, the condition is caused by new (sporadic) mutations in the COL1A1 or COL1A2 gene.  Less commonly, osteogenesis imperfecta has an autosomal recessive pattern of inheritance. Autosomal recessive inheritance means two copies of the gene in each cell are altered. The parents of a child with an autosomal recessive disorder typically are not affected, but each carry one copy of the altered gene. Some cases of osteogenesis imperfecta type III are autosomal recessive; these cases usually result from mutations in genes other than COL1A1 and COL1A2. When osteogenesis imperfecta is caused by mutations in the CRTAP or P3H1 gene, the condition also has an autosomal recessive pattern of inheritance.
Question: What are the genetic changes related to Bjrnstad syndrome ?

Answer: Bjrnstad syndrome is caused by mutations in the BCS1L gene. The protein produced from this gene is found in cell structures called mitochondria, which convert the energy from food into a form that cells can use. In mitochondria, the BCS1L protein plays a role in oxidative phosphorylation, which is a multistep process through which cells derive much of their energy. The BCS1L protein is critical for the formation of a group of proteins known as complex III, which is one of several protein complexes involved in this process. As a byproduct of its action in oxidative phosphorylation, complex III produces reactive oxygen species, which are harmful molecules that can damage DNA and tissues.  BCS1L gene mutations involved in Bjrnstad syndrome alter the BCS1L protein and impair its ability to aid in complex III formation. The resulting decrease in complex III activity reduces oxidative phosphorylation. For unknown reasons, overall production of reactive oxygen species is increased, although production by complex III is reduced. Researchers believe that tissues in the inner ears and hair follicles are particularly sensitive to reactive oxygen species and are damaged by the abnormal amount of these molecules, leading to the characteristic features of Bjrnstad syndrome.
Question: What is (are) chylomicron retention disease ?

Answer: Chylomicron retention disease is an inherited disorder that affects the absorption of dietary fats, cholesterol, and certain fat-soluble vitamins. As food is digested after a meal, molecules called chylomicrons are formed to carry fat and cholesterol from the intestine into the bloodstream. Chylomicrons are also necessary for the absorption of certain fat-soluble vitamins, such as vitamin E and vitamin D. A lack of chylomicron transport causes severely decreased absorption (malabsorption) of dietary fats and fat-soluble vitamins. Sufficient levels of fats, cholesterol, and vitamins are necessary for normal growth and development.  The signs and symptoms of chylomicron retention disease appear in the first few months of life. They can include failure to gain weight and grow at the expected rate (failure to thrive); diarrhea; and fatty, foul-smelling stools (steatorrhea). Other features of this disorder may develop later in childhood and often impair the function of the nervous system. Affected people may eventually develop decreased reflexes (hyporeflexia) and a decreased ability to feel vibrations.
Question: What are the treatments for What I need to know about Diverticular Disease ?

Answer: A doctor may prescribe antibiotics and recommend following a liquid diet. Most people get better with this treatment. Some people may need surgery and other treatments.
                
- Surgery. Serious problems from diverticulitis are treated with surgery. Surgeons can clean the abdomen after infections and remove bleeding pouches and fistulas.  - Colon resection. If you get diverticulitis many times, your doctor might suggest taking out the part of the colon with diverticula. The healthy sections can be joined together. With the diverticula gone, you may avoid other infections.  - Emergency surgery. If you have severe problems, you may need emergency surgery to clear the infection and remove part of the colon. Later, a second surgery rejoins the healthy sections of the colon. The colon is separated for a brief time between surgeries, because rejoining the colon during the first surgery is not always safe. A temporary colostomy is needed between the two surgeries. A colostomy is an opening made on the abdomen where a plastic bag is connected to collect stool after food is digested. The surgeon makes the opening, called a stoma, and connects it to the end of the colon.
Question: What is (are) Medicare and Continuing Care ?

Answer: Medicare Part A is hospital insurance that helps cover inpatient care in hospitals. Part A also helps cover skilled nursing facility care for a limited period of time, hospice care, and home health care, if you meet certain conditions. Most people don't have to pay a monthly premium for Medicare Part A when they turn age 65 because they or a spouse paid Medicare taxes while they were working. If a person is hospitalized, Medicare helps pay for the following services. - Care - general nursing - Room - semiprivate room  - Hospital services - meals, most services and supplies Care - general nursing Room - semiprivate room Hospital services - meals, most services and supplies If a person is hospitalized, Medicare does NOT pay for the following services. - Care - private-duty nursing  - Room - private room (unless medically necessary) - Hospital services - television and telephone Care - private-duty nursing Room - private room (unless medically necessary) Hospital services - television and telephone For important information about Medicare Part A, visit http://www.medicare.gov to view or print copies of "Your Medicare Benefits" or "Medicare & You." (Under "Search Tools," select "Find a Medicare Publication.")
Question: What is (are) Rashes ?

Answer: A rash is an area of irritated or swollen skin. Many rashes are itchy, red, painful, and irritated. Some rashes can also lead to blisters or patches of raw skin. Rashes are a symptom of many different medical problems. Other causes include irritating substances and allergies. Certain genes can make people more likely to get rashes.    Contact dermatitis is a common type of rash. It causes redness, itching, and sometimes small bumps. You get the rash where you have touched an irritant, such as a chemical, or something you are allergic to, like poison ivy.    Some rashes develop right away. Others form over several days. Although most rashes clear up fairly quickly, others are long-lasting and need long-term treatment.    Because rashes can be caused by many different things, it's important to figure out what kind you have before you treat it. If it is a bad rash, if it does not go away, or if you have other symptoms, you should see your health care provider. Treatments may include moisturizers, lotions, baths, cortisone creams that relieve swelling, and antihistamines, which relieve itching.
Question: What is (are) Ear Infections ?

Answer: Ear infections are the most common reason parents bring their child to a doctor. Three out of four children will have at least one ear infection by their third birthday. Adults can also get ear infections, but they are less common.    The infection usually affects the middle ear and is called otitis media. The tubes inside the ears become clogged with fluid and mucus. This can affect hearing, because sound cannot get through all that fluid.    If your child isn't old enough to say "My ear hurts," here are a few things to look for       - Tugging at ears    - Crying more than usual    - Fluid draining from the ear    - Trouble sleeping    - Balance difficulties    - Hearing problems       Your health care provider will diagnose an ear infection by looking inside the ear with an instrument called an otoscope.    Often, ear infections go away on their own. Your health care provider may recommend pain relievers. Severe infections and infections in young babies may require antibiotics.     Children who get infections often may need surgery to place small tubes inside their ears. The tubes relieve pressure in the ears so that the child can hear again.    NIH: National Institute on Deafness and Other Communication Disorders
Question: What is (are) Sertoli cell-only syndrome ?

Answer: Sertoli cell-only syndrome (SCO syndrome) is a condition of the testes that causes infertility in males due to having only Sertoli cells (cells that nurture immature sperm) lining the seminiferous tubules (tubes inside the testicles where sperm develop). Men typically learn they are affected between ages 20-40 when being evaluated for infertility and are found to have no sperm production (azoospermia). The diagnosis is made based on testicular biopsy findings. Other signs and symptoms are rare, but are secondary to the underlying condition causing SCO syndrome. Most cases are idiopathic (of unknown cause), but causes may include deletions in the azoospermia factor (AZF) region of the Y chromosome, or Y-chromosome microdeletions (referred to as Y chromosome infertility); Klinefelter syndrome; exposure to chemicals and toxins; history of radiation therapy; and history of severe trauma. There is not currently a known effective treatment for the condition. When no germ cells are visible in any seminiferous tubules it is considered SCO type I; if germ cells are present in a minority of tubules is it considered SCO type II.
Question: What are the symptoms of Marburg hemorrhagic fever (Marburg HF) ?

Answer: After an incubation period of 5-10 days, symptom onset is sudden and marked by fever, chills, headache, and myalgia. Around the fifth day after the onset of symptoms, a maculopapular rash, most prominent on the trunk (chest, back, stomach), may occur. Nausea, vomiting, chest pain, a sore throat, abdominal pain, and diarrhea may then appear. Symptoms become increasingly severe and can include jaundice, inflammation of the pancreas, severe weight loss, delirium, shock, liver failure, massive hemorrhaging, and multi-organ dysfunction. 
 
Because many of the signs and symptoms of Marburg hemorrhagic fever are similar to those of other infectious diseases such as malaria or typhoid fever, clinical diagnosis of the disease can be difficult, especially if only a single case is involved. 
 
The case-fatality rate for Marburg hemorrhagic fever is between 23-90%. For a complete listing of the case fatality rates for previous outbreaks, please see the History of Outbreaks table
Question: What causes Pericarditis ?

Answer: In many cases, the cause of pericarditis (both acute and chronic) is unknown.
                
Viral infections are likely a common cause of pericarditis, although the virus may never be found. Pericarditis often occurs after a respiratory infection. Bacterial, fungal, and other infections also can cause pericarditis.
                
Most cases of chronic, or recurring, pericarditis are thought to be the result of autoimmune disorders. Examples of such disorders include lupus, scleroderma, and rheumatoid arthritis.
                
With autoimmune disorders, the body's immune system makes antibodies (proteins) that mistakenly attack the body's tissues or cells.
                
Other possible causes of pericarditis are:
                
Heart attack and heart surgery
                
Kidney failure, HIV/AIDS, cancer, tuberculosis, and other health problems
                
Injuries from accidents or radiation therapy
                
Certain medicines, like phenytoin (an antiseizure medicine), warfarin and heparin (blood-thinning medicines), and procainamide (a medicine to treat irregular heartbeats)
Question: What are the symptoms of Insomnia ?

Answer: The main symptom of insomnia is trouble falling or staying asleep, which leads to lack of sleep. If you have insomnia, you may:
                
Lie awake for a long time before you fall asleep
                
Sleep for only short periods
                
Be awake for much of the night
                
Feel as if you haven't slept at all
                
Wake up too early
                
The lack of sleep can cause other symptoms. You may wake up feeling tired or not well-rested, and you may feel tired during the day. You also may have trouble focusing on tasks. Insomnia can cause you to feel anxious, depressed, or irritable.
                
Insomnia also can affect your daily activities and cause serious problems. For example, you may feel drowsy while driving. Driver sleepiness (not related to alcohol) is responsible for almost 20 percent of all serious car crash injuries. Research also shows that insomnia raises older womens risk of falling.
                
If insomnia is affecting your daily activities, talk with your doctor. Treatment may help you avoid symptoms and problems related to the disorder. Also, poor sleep may be a sign of other health problems. Finding and treating those problems could improve your overall health and sleep.
Question: what research (or clinical trials) is being done for Neuromyelitis Optica ?

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 is a component of the National Institutes of Health, the leading supporter of biomedical research in the world. NINDS researchers are working to better understand the process by which the immune system destroys or attacks the nerve insulating substance called myelin in autoijmune diseases or disorders. Other work focuses on strategies to repair demyelinated spinal cords, including approaches using cell transplantation. this research may lead to a grater understanding of the mechanisms responsible for damaging myelin and may ultimately provide a means to prevent and treat transverse myelitis An NINDS-funded study comparing clinical MRI and lumbar puncture of healthy individuals to those with symptoms of immune-related central nervous system damage hopes to identify processes or mechanisms to inhibit or minimize spinal tissue damage and enhance recovery mechanisms. Multiple studies are looking at ways to target different components of the immune system known to be involved in NMO spectrum disorders to allow more directly targeted treatment of this disease.
Question: what research (or clinical trials) is being done for Acid Lipase Disease ?

Answer: The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge abut the brain and nervous system, and to use that knowledge to reduce the burden of neurological diseaset. The NINDS conducts and supports research to understand lipid storage diseases such as acid lipase deficiency. Additional research studies hope to identify biomarkers (signs that may indicate risk of a disease and improve diagnosis) for thee lipid storage diseases that will speed the development of novel therapeutics for these disorders. Other investigators hope to establish an international disease registry designed to collect longitudinal data that would be used to improve the care and treatment of individuals with lysosomal acid lipase deficiency.
                
The National Library of Medicine (NLM), a part of the National Institutes of Health (NIH) within the U.S. Department of Health and Human Services, offers free searches of biomedical literature through an Internet service called PubMed. To search, go to: http://www.ncbi.nlm.nih.gov/PubMed . The NLM also offers extensive health information from NIH and other trusted sources. To research your condition, go to: http://www.medlineplus.gov .
Question: What are the genetic changes related to adermatoglyphia ?

Answer: Adermatoglyphia is caused by mutations in the SMARCAD1 gene. This gene provides information for making two versions of the SMARCAD1 protein: a full-length version that is active (expressed) in multiple tissues and a shorter version that is expressed only in the skin. Studies suggest that the full-length SMARCAD1 protein regulates the activity of a wide variety of genes involved in maintaining the stability of cells' genetic information. Little is known about the function of the skin-specific version of the SMARCAD1 protein, but it appears to play a critical role in dermatoglyph formation. Dermatoglyphs develop before birth and remain the same throughout life. The activity of this protein is likely one of several factors that determine each person's unique fingerprint pattern.  The SMARCAD1 gene mutations that cause adermatoglyphia affect only the skin-specific version of the SMARCAD1 protein. These mutations reduce the total amount of this protein available in skin cells. Although it is unclear how these genetic changes cause adermatoglyphia, researchers speculate that a shortage of the skin-specific version of the SMARCAD1 protein impairs signaling pathways needed for normal skin development and function, including the formation of dermatoglyphs.
Question: What are the genetic changes related to nephronophthisis ?

Answer: Nephronophthisis has several genetic causes, which are used to split the condition into distinct types. Nephronophthisis type 1, which is the most common type of the disorder and one cause of juvenile nephronophthisis, results from changes affecting the NPHP1 gene. The proteins produced from NPHP1 and the other genes involved in nephronophthisis are known or suspected to play roles in cell structures called cilia. Cilia are microscopic, finger-like projections that stick out from the surface of cells and are involved in chemical signaling. Cilia are important for the structure and function of many types of cells and tissues, including cells in the kidneys, liver, and brain and the light-sensitive tissue at the back of the eye (the retina).  The genetic mutations involved in nephronophthisis are thought to impair the structure or function of cilia in some way, which likely disrupts important chemical signaling pathways during development. Although researchers believe that defective cilia lead to the features of nephronophthisis, the mechanism remains unclear. It is unknown why some people with mutations in nephronophthisis-associated genes have only kidney problems, while others develop additional signs and symptoms.
Question: What are the genetic changes related to pulmonary alveolar microlithiasis ?

Answer: Pulmonary alveolar microlithiasis is caused by mutations in the SLC34A2 gene. This gene provides instructions for making a protein called the type IIb sodium-phosphate cotransporter, which plays a role in the regulation of phosphate levels (phosphate homeostasis). Although this protein can be found in several organs and tissues in the body, it is located mainly in the lungs, specifically in cells in the alveoli called alveolar type II cells. These cells produce and recycle surfactant, which is a mixture of certain phosphate-containing fats (called phospholipids) and proteins that lines the lung tissue and makes breathing easy.  The recycling of surfactant releases phosphate into the alveoli. Research suggests that the type IIb sodium-phosphate cotransporter normally helps clear this phosphate. SLC34A2 gene mutations are thought to impair the activity of the type IIb sodium-phosphate cotransporter, resulting in the accumulation of phosphate in the alveoli. The accumulated phosphate forms the microliths that cause the signs and symptoms of pulmonary alveolar microlithiasis.
Question: What are the treatments for common variable immune deficiency ?

Answer: These resources address the diagnosis or management of common variable immune deficiency:  - Genetic Testing Registry: Common variable immunodeficiency 10  - Genetic Testing Registry: Common variable immunodeficiency 11  - Genetic Testing Registry: Common variable immunodeficiency 2  - Genetic Testing Registry: Common variable immunodeficiency 5  - Genetic Testing Registry: Common variable immunodeficiency 6  - Genetic Testing Registry: Common variable immunodeficiency 7  - Genetic Testing Registry: Common variable immunodeficiency 8, with autoimmunity  - Genetic Testing Registry: Common variable immunodeficiency 9  - KidsHealth from Nemours: Blood Test: Immunoglobulins  - MedlinePlus Encyclopedia: Immunodeficiency Disorders  - National Marrow Donor Program  - Primary Immune Deficiency Treatment Consortium  - United States Immunodeficiency Network   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 cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy ?

Answer: CARASIL is caused by mutations in the HTRA1 gene. This gene provides instructions for making an enzyme that is found in many of the body's organs and tissues. One of the major functions of the HTRA1 enzyme is to regulate signaling by proteins in the transforming growth factor-beta (TGF-) family. TGF- signaling is essential for many critical cell functions. It also plays an important role in the formation of new blood vessels (angiogenesis).  In people with CARASIL, mutations in the HTRA1 gene prevent the effective regulation of TGF- signaling. Researchers suspect that abnormally increased TGF- signaling alters the structure of small blood vessels, particularly in the brain. These blood vessel abnormalities (described as arteriopathy) greatly increase the risk of stroke and lead to the death of nerve cells (neurons) in many areas of the brain. Dysregulation of TGF- signaling may also underlie the hair loss and back pain seen in people with CARASIL, although the relationship between abnormal TGF- signaling and these features is less clear.
Question: What are the treatments for osteogenesis imperfecta ?

Answer: These resources address the diagnosis or management of osteogenesis imperfecta:  - Gene Review: Gene Review: COL1A1/2-Related Osteogenesis Imperfecta  - Genetic Testing Registry: Osteogenesis imperfecta  - Genetic Testing Registry: Osteogenesis imperfecta type 5  - Genetic Testing Registry: Osteogenesis imperfecta type 6  - Genetic Testing Registry: Osteogenesis imperfecta type 7  - Genetic Testing Registry: Osteogenesis imperfecta type 8  - Genetic Testing Registry: Osteogenesis imperfecta type I  - Genetic Testing Registry: Osteogenesis imperfecta type III  - Genetic Testing Registry: Osteogenesis imperfecta with normal sclerae, dominant form  - Genetic Testing Registry: Osteogenesis imperfecta, recessive perinatal lethal  - MedlinePlus Encyclopedia: Osteogenesis Imperfecta   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