umarjan11/Medical-qna huggingface dataset:
Question: What is (are) Exstrophy-epispadias complex ?

Answer: Exstrophy-epispadias complex (EEC) comprises a spectrum of congenital abnormalities that includes epispadias, classical bladder exstrophy and exstrophy of the cloaca and several variants. EEC is characterized by a visible defect of the lower abdominal wall and other problems. The defect occurs due to a rupture of a fetal tissue known as the cloacal membrane during the first trimester of pregnancy. This results in the abnormal development of the abdominal wall of the fetus. The exact timing of the rupture determines whether the child is born with isolated epispadias, classic bladder exstrophy or cloacal exstrophy. Therefore, depending on severity, EEC may involve the urinary system, musculoskeletal system, pelvis, pelvic floor, abdominal wall, genitalia, and sometimes the spine and anus. There is no known cause for this condition. Treatment may involve several surgeries to repair the abdominal wall and any associated malformation. The University of Michigan has a webpage about the development of the embryo and its parts, including the formation of the cloaca.
Question: What causes Inflammatory myofibroblastic tumor ?

Answer: What causes inflammatory myofibroblastic tumors? The underlying cause of inflammatory myofibroblastic tumors (IMTs) remains unknown. While some researchers believe it is a true neoplasm, others believe that it represents an immunologic response to an infectious or noninfectious agent. Several associations have been reported between IMT and infections, including: organizing pneumonia Mycobacterium avium intracellulare Corynebacterium equi (a bacteria that affects the lungs) Campylobacter jejuni (a common cause of gastroenteritis) Bacillus sphaericus Coxiella burnetii Epstein-Barr virus E. coli occlusive phlebitis of intrahepatic veins Associations have also been reported between IMT and: previous abdominal surgery trauma ventriculoperitoneal shunt radiation therapy steroid usage An inflammatory reaction to an underlying, low-grade malignancy has also been proposed as a cause. Because there is limited information available to support or refute any of these, the mechanism behind the development of IMTs is still unclear.
Question: What are the treatments for Weill-Marchesani syndrome ?

Answer: How might Weill-Marchesani syndrome be treated? There is no cure for Weill-Marchesani syndrome, and treatment focuses addressing the symptoms that develop. Individuals with this condition often need a team of medical specialists, including pediatricians, eye specialists (ophthalmologists and optometrists), orthopedists, and cardiologists. Regular eye exams are important for early diagnosis of eye problems. Corrective glasses, visual aids, or eye surgery may be needed to improve vision. Increased pressure within the eye (glaucoma) may be treated with eye drops, laser therapy, surgical removal of the iris or lens. Contraction or dilation of the pupils can cause glaucoma in some people with Weill-Marchesani syndrome. Medications that contract the pupil must be avoided, and medications that dilate the pupils must be given with care. Joint stiffness and bone abnormalities can cause complications if anesthesia is needed for a procedure. It is important to inform a physician of the diagnosis before receiving anesthesia, as it can impact airway management.
Question: What is (are) SUNCT Headache ?

Answer: SUNCT-Short-lasting, Unilateral, Neuralgiform headache attacks with Conjunctival injection and Tearing-is a rare form of headache that is most common in men after age 50. The disorder is marked by bursts of moderate to severe burning, piercing, or throbbing pain, usually on one side of the head and around the eye or temple. The pain usually peaks within seconds of onset and may follow a pattern of increasing and decreasing intensity. Attacks typically occur in daytime hours and last from 5 seconds to 4 minutes per episode. Individuals generally have five to six attacks per hour.
                
Autonomic nervous system responses include watery eyes, reddish or bloodshot eyes caused by dilation of blood vessels (conjunctival injection), nasal congestion, runny nose, sweaty forehead, swelling of the eyelids, and increased pressure within the eye on the affected side of head. Systolic blood pressure may rise during the attacks. Movement of the neck may trigger these headaches. SUNCT may be a form of trigeminal neuralgia and is considered one of the trigeminal autonomic cephalgias, or TACs.
Question: What is (are) Krabbe Disease ?

Answer: Krabbe disease is a rare, inherited metabolic disorder in which harmful amounts of lipids (fatty materials such as oils and waxes) build up in various cells and tissues in the body and destroys brain cells. Krabbe disease, also known as globoid cell leukodystrophy, ischaracterized by the presence of globoid cells (cells that have more than one nucleus) that break down the nerves protective myelin coating. Krabbe disease is caused by a deficiency of galactocerebrosidase, an essential enzyme for myelin metabolism. The disease most often affects infants, with onset before age 6 months, but can occur in adolescence or adulthood. Symptoms include severe deterioration of mental and motor skills, muscle weakness, hypertonia (inability of a muscle to stretch), myoclonic seizures (sudden, shock-like contractions of the limbs), and spasticity (involuntary and awkward movement). Other symptoms may include irritability, unexplained fever, blindness, difficulty with swallowing, and deafness.
Question: What are the genetic changes related to horizontal gaze palsy with progressive scoliosis ?

Answer: HGPPS is caused by mutations in the ROBO3 gene. This gene provides instructions for making a protein that is important for the normal development of certain nerve pathways in the brain. These include motor nerve pathways, which transmit information about voluntary muscle movement, and sensory nerve pathways, which transmit information about sensory input (such as touch, pain, and temperature). For the brain and the body to communicate effectively, these nerve pathways must cross from one side of the body to the other in the brainstem, a region that connects the upper parts of the brain with the spinal cord.  The ROBO3 protein plays a critical role in ensuring that motor and sensory nerve pathways cross over in the brainstem. In people with HGPPS, these pathways do not cross over, but stay on the same side of the body. Researchers believe that this miswiring in the brainstem is the underlying cause of the eye movement abnormalities associated with the disorder. The cause of progressive scoliosis in HGPPS is unclear. Researchers are working to determine why the effects of ROBO3 mutations appear to be limited to horizontal eye movement and scoliosis.
Question: What are the genetic changes related to tarsal-carpal coalition syndrome ?

Answer: Tarsal-carpal coalition syndrome is caused by mutations in the NOG gene, which provides instructions for making a protein called noggin. This protein plays an important role in proper bone and joint development by blocking (inhibiting) signals that stimulate bone formation. The noggin protein attaches (binds) to proteins called bone morphogenetic proteins (BMPs), which keeps the BMPs from triggering signals for the development of bone.  NOG gene mutations that cause tarsal-carpal coalition syndrome reduce the amount of functional noggin protein. With decreased noggin function, BMPs abnormally stimulate bone formation in joint areas, where there should be no bone, causing the bone fusions seen in people with tarsal-carpal coalition syndrome.  Mutations in the NOG gene are involved in several disorders with overlapping signs and symptoms. Because of a shared genetic cause and overlapping features, researchers have suggested that these conditions, including tarsal-carpal coalition syndrome, represent a spectrum of related conditions referred to as NOG-related-symphalangism spectrum disorder (NOG-SSD).
Question: Is Miller-Dieker syndrome inherited ?

Answer: Most cases of Miller-Dieker syndrome are not inherited. The deletion occurs most often as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. Affected people typically have no history of the disorder in their family.  When Miller-Dieker syndrome is inherited, its inheritance pattern is considered autosomal dominant because a deletion in one copy of chromosome 17 in each cell is sufficient to cause the condition. About 12 percent of people with Miller-Dieker syndrome inherit a chromosome abnormality from an unaffected parent. In these cases, the parent carries a chromosomal rearrangement called a balanced translocation, in which no genetic material is gained or lost. Balanced translocations usually do not cause any health problems; however, they can become unbalanced as they are passed to the next generation. Children who inherit an unbalanced translocation can have a chromosomal rearrangement with extra or missing genetic material. Individuals with Miller-Dieker syndrome who inherit an unbalanced translocation are missing genetic material from the short arm of chromosome 17, which results in the health problems characteristic of this disorder.
Question: What is (are) bradyopsia ?

Answer: Bradyopsia is a rare condition that affects vision. The term "bradyopsia" is from the Greek words for slow vision. In affected individuals, the eyes adapt more slowly than usual to changing light conditions. For example, people with this condition are blinded for several seconds when going from a dark environment into a bright one, such as when walking out of a darkened movie theater into daylight. Their eyes also have trouble adapting from bright light to dark conditions, such as when driving into a dark tunnel on a sunny day.  Some people with bradyopsia also have difficulty seeing some moving objects, particularly small objects moving against a bright background. As a result, they often have trouble watching or participating in sports with a ball, such as soccer or tennis. People with bradyopsia can have reduced sharpness (acuity) of vision, although acuity may depend on the conditions under which vision is tested. Visual acuity may appear to be severely affected if it is tested under bright lights, but it can be near normal if tested in a dim environment. The ability to see colors and distinguish between them is normal.  The vision problems associated with bradyopsia become apparent in early childhood. They are usually stable, which means they do not worsen over time.
Question: What is (are) ZAP70-related severe combined immunodeficiency ?

Answer: ZAP70-related severe combined immunodeficiency (SCID) is an inherited disorder that damages the immune system. ZAP70-related SCID is one of several forms of severe combined immunodeficiency, a group of disorders with several genetic causes. Children with SCID lack virtually all immune protection from bacteria, viruses, and fungi. They are prone to repeated and persistent infections that can be very serious or life-threatening. Often the organisms that cause infection in people with this disorder are described as opportunistic because they ordinarily do not cause illness in healthy people. Infants with SCID typically experience pneumonia, chronic diarrhea, and widespread skin rashes. They also grow much more slowly than healthy children. If not treated in a way that restores immune function, children with SCID usually live only a year or two.  Most individuals with ZAP70-related SCID are diagnosed in the first 6 months of life. At least one individual first showed signs of the condition later in childhood and had less severe symptoms, primarily recurrent respiratory and skin infections.
Question: What is (are) familial cold autoinflammatory syndrome ?

Answer: Familial cold autoinflammatory syndrome is a condition that causes episodes of fever, skin rash, and joint pain after exposure to cold temperatures. These episodes usually begin in infancy and occur throughout life.  People with this condition usually experience symptoms after cold exposure of an hour or more, although in some individuals only a few minutes of exposure is required. Symptoms may be delayed for up to a few hours after the cold exposure. Episodes last an average of 12 hours, but may continue for up to 3 days.  In people with familial cold autoinflammatory syndrome, the most common symptom that occurs during an episode is an itchy or burning rash. The rash usually begins on the face or extremities and spreads to the rest of the body. Occasionally swelling in the extremities may occur.  In addition to the skin rash, episodes are characterized by fever, chills, and joint pain, most often affecting the hands, knees, and ankles. Redness in the whites of the eye (conjunctivitis), sweating, drowsiness, headache, thirst, and nausea may also occur during an episode of this disorder.
Question: What are the treatments for Urinary Tract Infections in Children ?

Answer: Some abnormalities in the urinary tract correct themselves as the child grows, but some may require surgical correction. While milder forms of VUR may resolve on their own, one common procedure to correct VUR is the reimplantation of the ureters. During this procedure, the surgeon repositions the connection between the ureters and the bladder so that urine will not reflux into the ureters and kidneys. This procedure may be performed through an incision that gives the surgeon a direct view of the bladder and ureters or laparoscopically. Laparoscopy is a procedure that uses a scope inserted through a small incision.
                
In recent years, health care providers have treated some cases of VUR by injecting substances into the bladder wall, just below the opening where the ureter joins the bladder. This injection creates a kind of narrowing or valve that keeps urine from refluxing into the ureters. The injection is delivered to the inside of the bladder through a catheter passed through the urethra, so there is no surgical incision. Evidence of clinically significant obstruction may indicate the need for surgery.
Question: How to diagnose Melanoma ?

Answer: Tests that examine the skin are used to detect (find) and diagnose melanoma. If a mole or pigmented area of the skin changes or looks abnormal, the following tests and procedures can help find and diagnose melanoma:         -  Skin exam: A doctor or nurse checks the skin for moles, birthmarks, or other pigmented areas that look abnormal in color, size, shape, or texture.    -   Biopsy : A procedure to remove the abnormal tissue and a small amount of normal tissue around it. A pathologist looks at the tissue under a microscope to check for cancer cells. It can be hard to tell the difference between a colored mole and an early melanoma lesion. Patients may want to have the sample of tissue checked by a second pathologist. If the abnormal mole or lesion is cancer, the sample of tissue may also be tested for certain gene changes.        It is important that abnormal areas of the skin not be shaved off or cauterized (destroyed with a hot instrument, an electric current, or a caustic substance) because cancer cells that remain may grow and spread.    See the PDQ summary on Skin Cancer Screening for more information.
Question: What is (are) Aplastic Anemia ?

Answer: Aplastic anemia is a rare but serious blood disorder. If you have it, your bone marrow doesn't make enough new blood cells. Causes include       - Toxic substances, such as pesticides, arsenic, and benzene    - Radiation therapy and chemotherapy for cancer    - Certain medicines    - Infections such as hepatitis, Epstein-Barr virus, or HIV    - Autoimmune disorders    - Certain inherited conditions    - Pregnancy       In many people, the cause is unknown.    Symptoms include fatigue, weakness, dizziness, and shortness of breath. It can cause heart problems such as an irregular heartbeat, an enlarged heart, and heart failure. You may also have frequent infections and bleeding.    Your doctor will diagnose aplastic anemia based on your medical and family histories, a physical exam, and test results. Once your doctor knows the cause and severity of the condition, he or she can create a treatment plan for you. Treatments include blood transfusions, blood and marrow stem cell transplants, and medicines.    NIH: National Heart, Lung, and Blood Institute
Question: What is (are) Herpes Simplex ?

Answer: Herpes is an infection that is caused by a herpes simplex virus (HSV). Oral herpes causes cold sores around the mouth or face. Genital herpes affects the genitals, buttocks or anal area. Genital herpes is a sexually transmitted disease (STD). It affects the genitals, buttocks or anal area. Other herpes infections can affect the eyes, skin, or other parts of the body. The virus can be dangerous in newborn babies or in people with weak immune systems.     There are two types of HSV:       - HSV type 1 most commonly causes cold sores. It can also cause genital herpes.    - HSV type 2 is the usual cause of genital herpes, but it also can infect the mouth.       HSV spreads through direct contact. Some people have no symptoms. Others get sores near the area where the virus has entered the body. They turn into blisters, become itchy and painful, and then heal.    Most people have outbreaks several times a year. Over time, you get them less often. Medicines to help your body fight the virus can help lessen symptoms and decrease outbreaks.
Question: What is (are) Appendicitis ?

Answer: The appendix is a small, tube-like organ attached to the first part of the large intestine. It is located in the lower right part of the abdomen. It has no known function. A blockage inside of the appendix causes appendicitis. The blockage leads to increased pressure, problems with blood flow, and inflammation. If the blockage is not treated, the appendix can burst and spread infection into the abdomen. This causes a condition called peritonitis.    The main symptom is pain in the abdomen, often on the right side. It is usually sudden and gets worse over time. Other symptoms may include       -  Swelling in the abdomen    -  Loss of appetite    -  Nausea and vomiting    -  Constipation or diarrhea    -  Inability to pass gas    -  Low fever        Not everyone with appendicitis has all these symptoms.    Appendicitis is a medical emergency. Treatment almost always involves removing the appendix. Anyone can get appendicitis, but it is more common among people 10 to 30 years old.    NIH: National Institute of Diabetes and Digestive and Kidney Diseases
Question: How to diagnose Eosinophilic enteropathy ?

Answer: How is eosinophilic enteropathy diagnosed? Endoscopy and biopsy is the only way to confirm the diagnosis of eosinophilic enteropathy. During an endoscopy, a gastroenterologist looks at the gastrointestinal tract through an endoscope and takes multiple small samples (biopsies), which a pathologist reviews. A high number of eosinophils suggests the diagnosis of eosinophilic enteropathy. The pathologist will also look at the location of the eosinophils, changes in the tissue layers, and degranulation (spilling of the contents of the eosinophils). Eosinophils may be normally found in small numbers in all areas of the gastrointestinal tract except the esophagus. However, the number of eosinophils seen in individuals with eosinophilic enteropathy is much higher. Once the diagnosis of eosinophilic enteropathy is confirmed, food allergy testing is typically recommended to guide treatment. Tests for food allergies include skin prick testing, patch testing, and a Radioallergosorbent test (RAST).
Question: What are the treatments for Pili torti ?

Answer: Are there new therapies for treatment of pili torti? In acquired pili torti, treatment involves stopping the exposure to the causative agent (e.g., to oral retinoids) or condition (e.g., improving diet). There is no specific treatment for the inherited form of pili torti. It may improve spontaneously after puberty. If pili torti is detected, further evaluation to investigate possible neurological disorders, problems with hair, teeth or nails (ectodermal disturbances) and hearing loss is mandatory. It is generally recommended that people with pili torti try to avoid trauma to the hair. Suggestions include, sleeping on a satin pillowcase, avoiding excessive grooming, braiding, heat treatments, dying and coloring, reducing exposure to sunlight (wear a hat), using gentle shampoos diluted in warm water, adding conditioner to freshly washed hair, avoiding use of a hair dryer (or using it on cool setting), and avoiding oral retinoids (e.g., isotretinoin, acitretin) if possible. Some individuals with pili torti choose to wear a wig.
Question: What is (are) Hypophosphatasia ?

Answer: Hypophosphatasia (HPP) is a genetic condition that causes abnormal development of the bones and teeth. The severity of HPP can vary widely, from fetal death to fractures that don't begin until adulthood. Signs and symptoms may include poor feeding and respiratory problems in infancy; short stature; weak and soft bones; short limbs; other skeletal abnormalities; and hypercalcemia. Complications can be life-threatening. The mildest form of the condition, called odontohypophosphatasia, only affects the teeth. HPP is caused by mutations in the ALPL gene. Perinatal (onset before birth) and infantile HPP are inherited in an autosomal recessive manner. The milder forms, especially adult forms and odontohypophosphatasia, may be inherited in an autosomal recessive or autosomal dominant manner. While treatment has always been symptomatic and supportive, recently an enzyme replacement therapy (ERT) called asfotase alfa has been show to improve bone manifestations people with childhood onset HPP and has been approved by the FDA.
Question: Is Dominant optic atrophy inherited ?

Answer: How is dominant optic atrophy inherited? Dominant optic atrophy (DOA) is inherited in an autosomal dominant manner. This means that having a change (mutation) in only one copy of the responsible gene in each cell is enough to cause features of the condition. In some cases, an affected person inherits the mutated gene from a parent. In other cases, the mutation occurs for the first time in an affected person and is not inherited from a parent (a de novo mutation). When a person with a mutation that causes DOA has children, each child has a 50% (1 in 2) chance to inherit the mutation. While a mutation responsible for DOA can cause the condition, not all people with a mutation will develop DOA. This means that DOA has reduced penetrance. There are likely to be other genetic and environmental factors that influence whether a person with a mutation will develop features of DOA. Additionally, not all people who do develop features will be affected the same way, and severity can vary - even within families. This phenomenon is known as variable expressivity. People with questions about genetic risks or genetic testing for themselves or family members are encouraged to speak with a genetics professional.
Question: What is (are) Multiple familial trichoepithelioma ?

Answer: Multiple familial trichoepithelioma is a rare condition characterized by multiple smooth, round, firm, skin-colored tumors (trichoepitheliomas) that usually occur on the face, but may also occur on the scalp, neck, and trunk. The tumors are derived from immature hair follicles. They usually first develop during childhood or adolescence and may grow larger and increase in number over time. The condition can be caused by alterations (mutations) in the CYLD gene or by mutations in other genes which are still unknown. The condition may be divided in two subtypes, multiple familial trichoepithelioma type 1 and multiple familial trichoepithelioma type 2.  Susceptibility to multiple familial trichoepithelioma is inherited in an autosomal dominant fashion, which means one copy of the altered gene in each cell increases the risk of developing this condition. However, a second, non-inherited mutation is required for development of skin appendage tumors in this disorder.Treatment often involves surgery to remove a single lesion and cryosurgery or laser surgery for multiple ones.