umarjan11/Medical-qna huggingface dataset:
Question: What is (are) Back Pain ?

Answer: If you've ever groaned, "Oh, my aching back!", you are not alone. Back pain is one of the most common medical problems, affecting 8 out of 10 people at some point during their lives. Back pain can range from a dull, constant ache to a sudden, sharp pain. Acute back pain comes on suddenly and usually lasts from a few days to a few weeks. Back pain is called chronic if it lasts for more than three months.    Most back pain goes away on its own, though it may take awhile. Taking over-the-counter pain relievers and resting can help. However, staying in bed for more than 1 or 2 days can make it worse.     If your back pain is severe or doesn't improve after three days, you should call your health care provider. You should also get medical attention if you have back pain following an injury.    Treatment for back pain depends on what kind of pain you have, and what is causing it. It may include hot or cold packs, exercise, medicines, injections, complementary treatments, and sometimes surgery.    NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases
Question: What causes Swyer-James syndrome ?

Answer: What causes Swyer-James syndrome? The cause of Swyer-James syndrome is not completely understood. Most experts agree that the initial abnormality occurs in the distal bronchi (air tubes that bring air to and from the lungs) after an infection during early childhood. The smaller size of the affected lung may be due to the infection inhibiting the normal growth of the lung. A number of reports have described Swyer-James syndrome following childhood histories including radiation therapy; measles; pertussis (whooping cough); tuberculosis; breathing in a foreign body; mycoplasma; and viral infections, especially adenovirus. Research has suggested that a hyper-immune reaction in the lung (producing an unusual abundance of antibodies) may play a role in sustaining airway damage after the initial infection. Some have argued a pre-existing lung abnormality may predispose individuals to the condition. Although bronchial damage of some kind during childhood is generally considered to play an important role, many affected individuals have had no known history of an airway infection. It is possible that some unknown factors present at birth may contribute to the development of Swyer-James syndrome.
Question: What is (are) Tetrahydrobiopterin deficiency ?

Answer: Tetrahydrobiopterin (BH4) deficiency is a neurological condition caused by an inborn error of metabolism. BH4 is a substance in the body that enhances the action of other enzymes. Deficiency of BH4 leads to abnormally high blood levels of the amino acid phenylalanine, and low levels of certain neurotransmitters. Signs and symptoms can range from very mild to severe. Affected newborns appear normal at birth, but may begin to experience neurological symptoms such as abnormal muscle tone; poor sucking and coordination; seizures; and delayed motor development. Without early, appropriate treatment, the condition can cause permanent intellectual disability and even death. BH4 deficiency is caused by mutations in any one of several genes including the GCH1, PCBD1, PTS, and QDPR genes. It is inherited in an autosomal recessive manner.Treatment depends on the genetic cause and severity, and may include a low phenylalanine diet; oral BH4 supplementation; and neurotransmitter replacement.
Question: What is (are) Autosomal recessive hyper IgE syndrome ?

Answer: Autosomal recessive hyper IgE syndrome (AR-HIES) is a very rare primary immunodeficiency syndrome characterized by highly elevated blood levels of immunoglobulin E (IgE), recurrent staphylococcal skin abscesses, and recurrent pneumonia. The same features are also seen in the more frequent autosomal dominant HIES syndrome. AR-HIES accounts for only a small minority of HIES cases, with about 130 affected families reported so far. In contrast to AD-HIES, the AR variant is further characterized by extreme hypereosinophilia (increase in the eosinophil count in the bloodstream); susceptibility to viral infections such as Herpes simplex and Molluscum contagiosum; involvement of the central nervous system; T-cell defects; and a high death rate. The dental, skeletal, connective tissue, and facial features present in AD-HIES are absent in AR-HIES. AR-HIES is inherited in an autosomal recessive fashion and is caused by mutations in the DOCK8 gene.
Question: What causes Neurofibromatosis type 1 ?

Answer: What causes neurofibromatosis type 1? Neurofibromatosis type 1 is caused by changes (mutations) in the NF1 gene. NF1 is a tumor suppressor gene, which means that it encodes a protein that stops cells from growing and dividing too rapidly or in an uncontrolled way. Mutations in NF1 result in an abnormal protein that is unable to carry out its normal role. This contributes to the development of the many different types of tumors found in neurofibromatosis type 1. People with neurofibromatosis type 1 are typically born with one mutated copy of the NF1 gene in each cell and are, therefore, genetically predisposed to develop the tumors associated with the condition. For a tumor to form, two copies of the NF1 gene must be altered. The mutation in the second copy of the NF1 gene is considered a somatic mutation because it occurs during a person's lifetime and is not inherited. Almost everyone who is born with one NF1 mutation acquires a second mutation in many cells and develops the tumors characteristic of neurofibromatosis type 1.
Question: What is (are) Leukodystrophy ?

Answer: A leukodystrophy is a type of rare genetic disorder that affects the brain, spinal cord, and other nerves in the body. It is caused by destruction of the white matter of the brain. The white matter degrades due to defects of the myelin, which is a fatty covering that insulates nerves in the brain. Myelin is needed to protect the nerves and the nerves can't function normally without it. These disorders are progressive, meaning they tend to get worse with time. The leukodystrophies are a group of disorders caused by spelling mistakes (mutations) in the genes involved in making myelin. Specific leukodystrophies include metachromatic leukodystrophy, Krabbe leukodystrophy, X-linked adrenoleukodystrophy, Pelizaeus-Merzbacher disease, Canavan disease, and Alexander disease. The most common symptom of a leukodystrophy is a decline in functioning of an infant or child who previously appeared healthy. This gradual loss may be seen with issues in body tone, movements, gait, speech, ability to eat, vision, hearing, and behavior.
Question: What is (are) Idiopathic acute eosinophilic pneumonia ?

Answer: Idiopathic acute eosinophilic pneumonia (IAEP) is characterized by the rapid accumulation of eosinophils in the lungs. Eosinophils are a type of white blood cell and are part of the immune system. IAEP can occur at any age but most commonly affects otherwise healthy individuals between 20 and 40 years of age. Signs and symptoms may include fever, cough, fatigue, difficulty breathing (dyspnea), muscle pain, and chest pain. IAEP can progress rapidly to acute respiratory failure. The term idiopathic means the exact cause for the overproduction of eosinophils is not known. Possible triggers of acute eosinophilic pneumonia include cigarette smoking, occupational exposure to dust and smoke, and certain medications. Diagnosis of IAEP generally involves a bronchoscopy and bronchoalveolar lavage (BAL). Treatment with corticosteroids is effective in most cases. Because IAEP often progresses rapidly, respiratory failure can occur; in these cases, mechanical ventilation is required.
Question: What is (are) Myotonic dystrophy ?

Answer: Myotonic dystrophy is an inherited condition that affects the muscles and other body systems. It is the most common form of muscular dystrophy that begins in adulthood, usually in a person's 20s or 30s. This condition is characterized by progressive muscle loss and weakness, particularly in the lower legs, hands, neck, and face. People with myotonic dystrophy often have prolonged muscle tensing (myotonia) and are not able to relax certain muscles after use. The severity of the condition varies widely among affected people, even among members of the same family. There are two types of myotonic dystrophy: myotonic dystrophy type 1 and myotonic dystrophy type 2. The symptoms in people with myotonic dystrophy type 2 tend to be milder than in those with type 1. Although both types are inherited in an autosomal dominant pattern, they are caused by mutations in different genes. Myotonic dystrophy type 1 is caused by mutations in the DMPK gene, while type 2 is caused by mutations in the CNBP gene.
Question: what is botulism?

Answer: Botulism is a rare but serious paralytic illness caused by a nerve toxin that is produced by the bacterium Clostridium botulinum and sometimes by strains of Clostridium butyricum and Clostridium baratii. There are five main kinds of botulism. Foodborne botulism is caused by eating foods that contain the botulinum toxin. Wound botulism is caused by toxin produced from a wound infected with Clostridium botulinum. Infant botulism is caused by consuming the spores of the botulinum bacteria, which then grow in the intestines and release toxin. Adult intestinal toxemia (adult intestinal colonization) botulism is a very rare kind of botulism that occurs among adults by the same route as infant botulism. Lastly, iatrogenic botulism can occur from accidental overdose of botulinum toxin. All forms of botulism can be fatal and are considered medical emergencies. Foodborne botulism is a public health emergency because many people can be poisoned by eating a contaminated food.
Question: what are the signs and symptoms of rabies?

Answer: The first symptoms of rabies may be very similar to those of the flu including general weakness or discomfort, fever, or headache. These symptoms may last for days.
                
There may be also discomfort or a prickling or itching sensation at the site of bite, progressing within days to symptoms of cerebral dysfunction, anxiety, confusion, agitation. As the disease progresses, the person may experience delirium, abnormal behavior, hallucinations, and insomnia.
                
The acute period of disease typically ends after 2 to 10 days. Once clinical signs of rabies appear, the disease is nearly always fatal, and treatment is typically supportive.
                
Disease prevention includes administration of both passive antibody, through an injection of human immune globulin and a round of injections with rabies vaccine.
                
Once a person begins to exhibit signs of the disease, survival is rare. To date less than 10 documented cases of human survival from clinical rabies have been reported and only two have not had a history of pre- or postexposure prophylaxis.
Question: Who is at risk for Bronchopulmonary Dysplasia? ?

Answer: The more premature an infant is and the lower his or her birth weight, the greater the risk of bronchopulmonary dysplasia (BPD).
                
Most infants who develop BPD are born more than 10 weeks before their due dates, weigh less than 2 pounds (about 1,000 grams) at birth, and have breathing problems. Infections that occur before or shortly after birth also can contribute to BPD.
                
The number of babies who have BPD is higher now than in the past. This is because of advances in care that help more premature infants survive.
                
Many babies who develop BPD are born with serious respiratory distress syndrome (RDS). However, some babies who have mild RDS or don't have RDS also develop BPD. These babies often have very low birth weights and one or more other conditions, such as patent ductus arteriosus (PDA) and sepsis.
                
PDA is a heart problem that occurs soon after birth in some babies. Sepsis is a serious bacterial infection in the bloodstream.
Question: What is (are) Electrocardiogram ?

Answer: An electrocardiogram (e-lek-tro-KAR-de-o-gram), also called an EKG or ECG, is a simple, painless test that records the heart's electrical activity. To understand this test, it helps to understand how the heart works.
                
With each heartbeat, an electrical signal spreads from the top of the heart to the bottom. As it travels, the signal causes the heart to contract and pump blood. The process repeats with each new heartbeat.
                
The heart's electrical signals set the rhythm of the heartbeat. For more detailed information and animations, go to the Health Topics How the Heart Works article.
                
An EKG shows:
                
How fast your heart is beating
                
Whether the rhythm of your heartbeat is steady or irregular
                
The strength and timing of electrical signals as they pass through each part of your heart
                
Doctors use EKGs to detect and study many heart problems, such as heart attacks, arrhythmias (ah-RITH-me-ahs), and heart failure. The test's results also can suggest other disorders that affect heart function.
Question: How to prevent Hemolytic Anemia ?

Answer: You can't prevent inherited types of hemolytic anemia. One exception is glucose-6-phosphate dehydrogenase (G6PD) deficiency.
                
If you're born with G6PD deficiency, you can avoid substances that may trigger the condition. For example, avoid fava beans, naphthalene (a substance found in some moth balls), and certain medicines (as your doctor advises).
                
Some types of acquired hemolytic anemia can be prevented. For example, reactions to blood transfusions, which can cause hemolytic anemia, can be prevented. This requires careful matching of blood types between the blood donor and the recipient.
                
Prompt and proper prenatal care can help you avoid the problems of Rh incompatibility. This condition can occur during pregnancy if a woman has Rh-negative blood and her baby has Rh-positive blood. "Rh-negative" and "Rh-positive" refer to whether your blood has Rh factor. Rh factor is a protein on red blood cells.
                
Rh incompatibility can lead to hemolytic anemia in a fetus or newborn.
Question: What are the genetic changes related to 5q minus syndrome ?

Answer: 5q- syndrome is caused by deletion of a region of DNA from the long (q) arm of chromosome 5. Most people with 5q- syndrome are missing a sequence of about 1.5 million DNA building blocks (base pairs), also written as 1.5 megabases (Mb). However, the size of the deleted region varies. This deletion occurs in immature blood cells during a person's lifetime and affects one of the two copies of chromosome 5 in each cell.  The commonly deleted region of DNA contains 40 genes, many of which play a critical role in normal blood cell development. Research suggests that loss of multiple genes in this region contributes to the features of 5q- syndrome. Loss of the RPS14 gene leads to the problems with red blood cell development characteristic of 5q- syndrome, and loss of MIR145 or MIR146A contributes to the megakaryocyte and platelet abnormalities and may promote the overgrowth of immature cells. Scientists are still determining how the loss of other genes in the deleted region might be involved in the features of 5q- syndrome.
Question: What are the genetic changes related to tyrosinemia ?

Answer: Mutations in the FAH, TAT, and HPD genes can cause tyrosinemia types I, II, and III, respectively.  In the liver, enzymes break down tyrosine in a five step process, resulting in molecules that are either excreted by the kidneys or used to produce energy or make other substances in the body. The FAH gene provides instructions for the fumarylacetoacetate hydrolase enzyme, which is responsible for the final step of tyrosine breakdown. The enzyme produced from the TAT gene, called tyrosine aminotransferase enzyme, is involved at the first step in the process. The HPD gene provides instructions for making the 4-hydroxyphenylpyruvate dioxygenase enzyme, which is responsible for the second step.  Mutations in the FAH, TAT, or HPD gene cause a decrease in the activity of one of the enzymes in the breakdown of tyrosine. As a result, tyrosine and its byproducts accumulate to toxic levels, which can cause damage and death to cells in the liver, kidneys, nervous system, and other organs.
Question: Is megalencephalic leukoencephalopathy with subcortical cysts inherited ?

Answer: All cases of megalencephalic leukoencephalopathy with subcortical cysts caused by mutations in the MLC1 gene (type 1) and some cases caused by mutations in the HEPACAM gene (type 2A) are inherited in an autosomal recessive pattern. Autosomal recessive inheritance means both copies of a 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.  Megalencephalic leukoencephalopathy with subcortical cysts type 2B is inherited in an autosomal dominant pattern, which means one copy of the altered HEPACAM gene in each cell is sufficient to cause the disorder. Most cases of type 2B result from new (de novo) mutations in the HEPACAM gene that occur during the formation of reproductive cells (eggs or sperm) or in early embryonic development. These cases occur in people with no history of the disorder in their family.
Question: What is (are) hepatic veno-occlusive disease with immunodeficiency ?

Answer: Hepatic veno-occlusive disease with immunodeficiency (also called VODI) is a hereditary disorder of the liver and immune system. Its signs and symptoms appear after the first few months of life.  Hepatic veno-occlusive disease is a condition that blocks (occludes) small veins in the liver, disrupting blood flow in this organ. This condition can lead to enlargement of the liver (hepatomegaly), a buildup of scar tissue (hepatic fibrosis), and liver failure.  Children with VODI are prone to recurrent infections caused by certain bacteria, viruses, and fungi. The organisms that cause infection in people with this disorder are described as opportunistic because they ordinarily do not cause illness in healthy people. These infections are usually serious and may be life-threatening. In most people with VODI, infections occur before hepatic veno-occlusive disease becomes evident.  Many people with VODI live only into childhood, although some affected individuals have lived to early adulthood.
Question: What is (are) ring chromosome 14 syndrome ?

Answer: Ring chromosome 14 syndrome is a condition characterized by seizures and intellectual disability. Recurrent seizures (epilepsy) develop in infancy or early childhood. In many cases, the seizures are resistant to treatment with anti-epileptic drugs. Most people with ring chromosome 14 syndrome also have some degree of intellectual disability or learning problems. Development may be delayed, particularly the development of speech and of motor skills such as sitting, standing, and walking.  Additional features of ring chromosome 14 syndrome can include slow growth and short stature, a small head (microcephaly), puffy hands and/or feet caused by a buildup of fluid (lymphedema), and subtle differences in facial features. Some affected individuals have problems with their immune system that lead to recurrent infections, especially involving the respiratory system. Abnormalities of the retina, the specialized tissue at the back of the eye that detects light and color, have also been reported in some people with this condition. These changes typically do not affect vision. Major birth defects are rarely seen with ring chromosome 14 syndrome.
Question: What are the genetic changes related to tibial muscular dystrophy ?

Answer: Mutations in the TTN gene cause tibial muscular dystrophy. This gene provides instructions for making a protein called titin. Titin plays an important role in muscles the body uses for movement (skeletal muscles) and in heart (cardiac) muscle.  Within muscle cells, titin is an essential component of structures called sarcomeres. Sarcomeres are the basic units of muscle contraction; they are made of proteins that generate the mechanical force needed for muscles to contract. Titin has several functions within sarcomeres. One of its most important jobs is to provide structure, flexibility, and stability to these cell structures. Titin also plays a role in chemical signaling and in assembling new sarcomeres.  Mutations in the TTN gene alter the structure and function of titin. Researchers suspect that these changes may disrupt titin's interactions with other proteins within sarcomeres. Mutations may also interfere with the protein's role in chemical signaling. The altered titin protein disrupts normal muscle contraction, which causes muscles to weaken and waste away over time. It is unclear why these effects are usually limited to muscles in the lower legs.
Question: What are the treatments for cutis laxa ?

Answer: These resources address the diagnosis or management of cutis laxa:  - Gene Review: Gene Review: ATP6V0A2-Related Cutis Laxa  - Gene Review: Gene Review: ATP7A-Related Copper Transport Disorders  - Gene Review: Gene Review: EFEMP2-Related Cutis Laxa  - Gene Review: Gene Review: FBLN5-Related Cutis Laxa  - Genetic Testing Registry: Autosomal recessive cutis laxa type IA  - Genetic Testing Registry: Cutis laxa with osteodystrophy  - Genetic Testing Registry: Cutis laxa, X-linked  - Genetic Testing Registry: Cutis laxa, autosomal dominant  - MedlinePlus Encyclopedia: Colon Diverticula (image)  - MedlinePlus Encyclopedia: Emphysema (image)  - MedlinePlus Encyclopedia: Hernia   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 anhidrotic ectodermal dysplasia with immune deficiency inherited ?

Answer: When EDA-ID is caused by mutations in the IKBKG gene, it is inherited in an X-linked recessive pattern. The IKBKG gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of the IKBKG gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.  When EDA-ID is caused by mutations in the NFKBIA gene, the condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases result from new mutations in the gene and occur in people with no history of the disorder in their family.
Question: What are the genetic changes related to sialidosis ?

Answer: Mutations in the NEU1 gene cause sialidosis. This gene provides instructions for making an enzyme called neuraminidase 1 (NEU1), which is found in lysosomes. Lysosomes are compartments within the cell that use enzymes to digest and recycle materials. The NEU1 enzyme helps break down large sugar molecules attached to certain proteins by removing a substance known as sialic acid.  Mutations in the NEU1 gene lead to a shortage (deficiency) of the NEU1 enzyme. When this enzyme is lacking, sialic acid-containing compounds accumulate inside lysosomes. Conditions such as sialidosis that cause molecules to build up inside lysosomes are called lysosomal storage disorders. People with sialidosis type II have mutations that severely reduce or eliminate NEU1 enzyme activity. Individuals with sialidosis type I have mutations that result in some functional NEU1 enzyme. It is unclear exactly how the accumulation of large molecules within lysosomes leads to the signs and symptoms of sialidosis.