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<s>[INST] Human: What are the symptoms of Pillay syndrome ? [/INST] Assistant: What are the signs and symptoms of Pillay syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Pillay syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of bone mineral density 90% Abnormality of the humerus 90% Aplasia/Hypoplasia of the radius 90% Camptodactyly of finger 90% Elbow dislocation 90% Limitation of joint mobility 90% Micromelia 90% Opacification of the corneal stroma 90% Radioulnar synostosis 90% Symphalangism affecting the phalanges of the hand 90% Synostosis of carpal bones 90% Visual impairment 90% Glaucoma 7.5% Megalocornea 7.5% Abnormality of the thorax - Autosomal dominant inheritance - Blindness - Coxa valga - Decreased mobility 3rd-5th fingers - Fibular hypoplasia - Lateral humeral condyle aplasia - Mesomelia - Radial bowing - Radioulnar dislocation - Temporomandibular joint ankylosis - Ulnar deviated club hands - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>

<s>[INST] Human: What is (are) 46,XX testicular disorder of sex development ? [/INST] Assistant: 46,XX testicular disorder of sex development is a condition in which a person with two X chromosomes (which is normally found in females) has a male appearance. More specifically, people with this condition have male external genitalia, ranging from normal to ambiguous. Other common signs and symptoms include small testes, gynecomastia, infertility due to azoospermia (lack of sperm), and health problems related to low testosterone. Less often, affected people may experience abnormalities such as undescended testes and hypospadias. Gender role and gender identity are normally reported as male. This condition may occur if the SRY gene (which is usually found on the Y chromosome) is misplaced onto the X chromosome. This generally occurs to do an abnormal exchange of genetic material between chromosomes (a translocation). Less commonly, the condition may be due to copy number variants or rearrangements in or around the SOX9 or SOX3 gene. In some affected people, the underlying cause is unknown. In most cases, the condition occurs sporadically in people with no family history of the condition. Treatment is based on the signs and symptoms present in each person and generally includes testosterone replacement therapy. </s>

<s>[INST] Human: What are the treatments for Tourette syndrome ? [/INST] Assistant: How might Tourette syndrome be treated? Many individuals with Tourette syndrome have mild symptoms and do not require medication. However, effective medications are available for those whose symptoms interfere with functioning. Neuroleptics are the most consistently useful medications for tic suppression; a number are available but some are more effective than others (for example, haloperidol and pimozide). Unfortunately, there is no one medication that is helpful to all people with Tourette syndrome, nor does any medication completely eliminate symptoms. In addition, all medications have side effects. Additional medications with demonstrated efficacy include alpha-adrenergic agonists such as clonidine and guanfacine. These medications are used primarily for hypertension but are also used in the treatment of tics. Effective medications are also available to treat some of the associated neurobehavioral disorders that can occur in patients with Tourette syndrome. Recent research shows that stimulant medications such as methylphenidate and dextroamphetamine can lessen ADHD symptoms in people with Tourette syndrome without causing tics to become more severe. However, the product labeling for stimulants currently contraindicates the use of these drugs in children with tics/Tourette syndrome and those with a family history of tics. For obsessive-compulsive symptoms that significantly disrupt daily functioning, the serotonin reuptake inhibitors (clomipramine, fluoxetine, fluvoxamine, paroxetine, and sertraline) have been proven effective in some individuals. Behavioral treatment such as awareness training and competing response training can also be used to reduce tics. Psychotherapy may be helpful as well. It can help with accompanying problems, such as ADHD, obsessions, depression and anxiety. Therapy can also help people cope with Tourette syndrome. For debilitating tics that don't respond to other treatment, deep brain stimulation (DBS) may help. DBS consists of implanting a battery-operated medical device (neurostimulator) in the brain to deliver electrical stimulation to targeted areas that control movement. Further research is needed to determine whether DBS is beneficial for people with Tourette syndrome. </s>

<s>[INST] Human: What is the outlook for Restless Legs Syndrome ? [/INST] Assistant: RLS is generally a life-long condition for which there is no cure. Symptoms may gradually worsen with age. Nevertheless, current therapies can control the disorder, minimizing symptoms and increasing periods of restful sleep. In addition, some individuals have remissions, periods in which symptoms decrease or disappear for days, weeks, or months, although symptoms usually eventually reappear. </s>

<s>[INST] Human: How many people are affected by late-infantile neuronal ceroid lipofuscinosis ? [/INST] Assistant: The prevalence of late-infantile NCL is unknown. Collectively, all forms of NCL affect an estimated 1 in 100,000 individuals worldwide. NCLs are more common in Finland, where approximately 1 in 12,500 individuals are affected. </s>

<s>[INST] Human: How many people are affected by Acromegaly ? [/INST] Assistant: Small pituitary adenomas are common, affecting about 17 percent of the population.1 However, research suggests most of these tumors do not cause symptoms and rarely produce excess GH.2 Scientists estimate that three to four out of every million people develop acromegaly each year and about 60 out of every million people suffer from the disease at any time.3 Because the clinical diagnosis of acromegaly is often missed, these numbers probably underestimate the frequency of the disease. </s>

<s>[INST] Human: What are the symptoms of Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia ? [/INST] Assistant: What are the signs and symptoms of Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia? The Human Phenotype Ontology provides the following list of signs and symptoms for Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Facial palsy 5% Abnormality of pelvic girdle bone morphology - Amyotrophic lateral sclerosis - Autosomal dominant inheritance - Back pain - Difficulty climbing stairs - Distal amyotrophy - Dysphasia - Dystonia - Elevated alkaline phosphatase of bone origin - Elevated serum creatine phosphokinase - Frontal cortical atrophy - Frontotemporal dementia - Gait disturbance - Limb muscle weakness - Lumbar hyperlordosis - Myopathy - Pelvic girdle amyotrophy - Pelvic girdle muscle atrophy - Pelvic girdle muscle weakness - Proximal muscle weakness - Rimmed vacuoles - Scapular winging - Shoulder girdle muscle atrophy - Shoulder girdle muscle weakness - Temporal cortical atrophy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>

<s>[INST] Human: What is (are) frontotemporal dementia with parkinsonism-17 ? [/INST] Assistant: Frontotemporal dementia with parkinsonism-17 (FTDP-17) is a progressive brain disorder that affects behavior, language, and movement. The symptoms of this disorder usually become noticeable in a person's forties or fifties. Most affected people survive 5 to 10 years after the appearance of symptoms, although a few have survived for two decades or more. Changes in personality and behavior are often early signs of FTDP-17. These changes include a loss of inhibition, inappropriate emotional responses, restlessness, neglect of personal hygiene, and a general loss of interest in activities and events. The disease also leads to deterioration of cognitive functions (dementia), including problems with judgment, planning, and concentration. Some people with FTDP-17 develop psychiatric symptoms, including obsessive-compulsive behaviors, delusions, and hallucinations. It may become difficult for affected individuals to interact with others in a socially appropriate manner. They increasingly require help with personal care and other activities of daily living. Many people with FTDP-17 develop problems with speech and language. They may have trouble finding words, confuse one word with another (semantic paraphasias), and repeat words spoken by others (echolalia). Difficulties with speech and language worsen over time, and most affected individuals eventually lose the ability to communicate. FTDP-17 is also characterized by progressive problems with movement. Many affected individuals develop features of parkinsonism, including tremors, rigidity, and unusually slow movement (bradykinesia). As the disease progresses, most affected individuals become unable to walk. Some people with FTDP-17 also have restricted up-and-down eye movement (vertical gaze palsy) and rapid abnormal movements of both eyes (saccades). </s>

<s>[INST] Human: What are the treatments for Mainzer-Saldino syndrome ? [/INST] Assistant: These resources address the diagnosis or management of Mainzer-Saldino syndrome: - MedlinePlus Encyclopedia: Electroretinography - National Institutes of Diabetes and Digestive and Kidney Diseases: Treatment Methods for Kidney Failure in Children 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 </s>

<s>[INST] Human: What are the treatments for Collagenous colitis ? [/INST] Assistant: How might collagenous colitis be treated? Treatment for collagenous colitis varies depending on the symptoms and severity in each affected individual. In some cases the condition may resolve on its own (spontaneous remission), although most people continue to have ongoing or occasional diarrhea. Dietary changes are usually tried first to alleviate symptoms. These changes may include a reduced-fat diet, eliminating foods that contain caffeine and lactose, and avoiding over-the-counter pain relievers such as ibuprofen or aspirin. If these changes alone are not enough, medications can be used to help control symptoms. However, the response rate to various types of medication reportedly varies. Prescription anti-inflammatory medications such as mesalamine and sulfasalazine may help reduce swelling. Steroids including budesonide and prednisone can be used reduce inflammation, but they are usually only used to control sudden attacks of diarrhea. Long-term use of steroids is typically avoided because of unwanted side effects. Anti-diarrheal medications such as bismuth subsalicylate, diphenoxylate with atropine, and loperamide can offer short-term relief. Immunosuppressive agents such as azathioprine help to reduce inflammation but are rarely needed. In extreme cases where the condition does not respond to medications, surgery to remove all or part of the colon may be necessary. However, surgery is rarely recommended. </s>

<s>[INST] Human: What is (are) Afibrinogenemia ? [/INST] Assistant: Afibrinogenemia, sometimes called congenital afibrinogenemia, is an inherited blood disorder in which the blood does not clot normally. It occurs when there is a lack (deficiency) of a protein called fibrinogen (or factor I), which is needed for the blood to clot. Affected individuals may be susceptible to severe bleeding (hemorrhaging) episodes, particularly during infancy and childhood. Afibrinogenemia is thought to be transmitted as an autosomal recessive trait. </s>

<s>[INST] Human: How to diagnose Holes in the Heart ? [/INST] Assistant: Doctors usually diagnose holes in the heart based on a physical exam and the results from tests and procedures. The exam findings for an atrial septal defect (ASD) often aren't obvious. Thus, the diagnosis sometimes isn't made until later in childhood or even in adulthood. Ventricular septal defects (VSDs) cause a very distinct heart murmur. Because of this, a diagnosis usually is made in infancy. Specialists Involved Doctors who specialize in diagnosing and treating heart problems are called cardiologists. Pediatric cardiologists take care of babies and children who have heart problems. Cardiac surgeons repair heart defects using surgery. Physical Exam During a physical exam, your child's doctor will listen to your child's heart and lungs with a stethoscope. The doctor also will look for signs of a heart defect, such as a heart murmur or signs of heart failure. Diagnostic Tests and Procedures Your child's doctor may recommend several tests to diagnose an ASD or VSD. These tests also will help the doctor figure out the location and size of the defect. Echocardiography Echocardiography (echo) is a painless test that uses sound waves to create a moving picture of the heart. The sound waves (called ultrasound) bounce off the structures of the heart. A computer converts the sound waves into pictures on a screen. Echo allows the doctor to clearly see any problem with the way the heart is formed or the way it's working. Echo is an important test for both diagnosing a hole in the heart and following the problem over time. Echo can show problems with the heart's structure and how the heart is reacting to the problems. This test will help your child's cardiologist decide whether and when treatment is needed. EKG (Electrocardiogram) An EKG is a simple, painless test that records the heart's electrical activity. The test shows how fast the heart is beating and its rhythm (steady or irregular). It also records the strength and timing of electrical signals as they pass through the heart. An EKG can detect whether one of the heart's chambers is enlarged, which can help diagnose a heart problem. Chest X Ray A chest x ray is a painless test that creates pictures of the structures in the chest, such as the heart, lungs, and blood vessels. This test can show whether the heart is enlarged. A chest x ray also can show whether the lungs have extra blood flow or extra fluid, a sign of heart failure. Pulse Oximetry Pulse oximetry shows the level of oxygen in the blood. A small sensor is attached to a finger or ear. The sensor uses light to estimate how much oxygen is in the blood. Cardiac Catheterization During cardiac catheterization (KATH-e-ter-i-ZA-shun), a thin, flexible tube called a catheter is put into a vein in the arm, groin (upper thigh), or neck. The tube is threaded to the heart. Special dye is injected through the catheter into a blood vessel or one of the heart's chambers. The dye allows the doctor to see the flow of blood through the heart and blood vessels on an x-ray image. The doctor also can use cardiac catheterization to measure the pressure inside the heart chambers and blood vessels. This can help the doctor figure out whether blood is mixing between the two sides of the heart. Doctors also use cardiac catheterization to repair some heart defects. For more information, go to "How Are Holes in the Heart Treated?" </s>

<s>[INST] Human: What is (are) Goldberg-Shprintzen megacolon syndrome ? [/INST] Assistant: Goldberg-Shprintzen megacolon syndrome is a very rare genetic condition characterized by Hirschsprung disease, megacolon, small head, widely spaced eyes, cleft palate, short stature, and learning disability. This condition has been described in about 15 individuals to date. Some of the reported cases also had iris coloboma, hypotonia, epilepsy, and ptosis. One of the described patients had sparse scalp hair, a sloping forehead, sparse eyebrows, broad nasal bridge, large ears, pointed chin, ventricular septal defect, hypospadias, syndactyly between the second and third fingers, and clubfeet. This condition appears to be inherited as an autosomal recessive trait and was found to be caused by mutations in the KIAA1279 gene. </s>

<s>[INST] Human: What are the treatments for Fanconi anemia ? [/INST] Assistant: These resources address the diagnosis or management of Fanconi anemia: - Cincinnati Children's Hospital: Fanconi Anemia Comprehensive Care Center - Fanconi Anemia Research Fund: Fanconi Anemia Guidelines for Diagnosis and Management - Gene Review: Gene Review: Fanconi Anemia - Genetic Testing Registry: Fanconi anemia - Genetic Testing Registry: Fanconi anemia, complementation group A - Genetic Testing Registry: Fanconi anemia, complementation group B - Genetic Testing Registry: Fanconi anemia, complementation group C - Genetic Testing Registry: Fanconi anemia, complementation group D1 - Genetic Testing Registry: Fanconi anemia, complementation group D2 - Genetic Testing Registry: Fanconi anemia, complementation group E - Genetic Testing Registry: Fanconi anemia, complementation group F - Genetic Testing Registry: Fanconi anemia, complementation group G - Genetic Testing Registry: Fanconi anemia, complementation group I - Genetic Testing Registry: Fanconi anemia, complementation group J - Genetic Testing Registry: Fanconi anemia, complementation group L - Genetic Testing Registry: Fanconi anemia, complementation group M - Genetic Testing Registry: Fanconi anemia, complementation group N - Genetic Testing Registry: Fanconi anemia, complementation group O - Genetic Testing Registry: Fanconi anemia, complementation group P - MedlinePlus Encyclopedia: Fanconi's Anemia - National Cancer Institute: Adult Acute Myeloid Leukemia Treatment PDQ - National Cancer Institute: Myelodysplastic Syndromes Treatment PDQ - National Heart Lung and Blood Institute: How is Fanconi Anemia Treated? - The Rockefeller University: International Fanconi Anemia Registry 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 </s>

<s>[INST] Human: What is (are) Diabetes Type 2 ? [/INST] Assistant: Diabetes means your blood glucose, or blood sugar, levels are too high. With type 2 diabetes, the more common type, your body does not make or use insulin well. Insulin is a hormone that helps glucose get into your cells to give them energy. Without insulin, too much glucose stays in your blood. Over time, high blood glucose can lead to serious problems with your heart, eyes, kidneys, nerves, and gums and teeth. You have a higher risk of type 2 diabetes if you are older, obese, have a family history of diabetes, or do not exercise. Having prediabetes also increases your risk. Prediabetes means that your blood sugar is higher than normal but not high enough to be called diabetes. The symptoms of type 2 diabetes appear slowly. Some people do not notice symptoms at all. The symptoms can include - Being very thirsty - Urinating often - Feeling very hungry or tired - Losing weight without trying - Having sores that heal slowly - Having blurry eyesight Blood tests can show if you have diabetes. One type of test, the A1C, can also check on how you are managing your diabetes. Many people can manage their diabetes through healthy eating, physical activity, and blood glucose testing. Some people also need to take diabetes medicines. NIH: National Institute of Diabetes and Digestive and Kidney Diseases </s>

<s>[INST] Human: What causes Psoriasis ? [/INST] Assistant: Although the cause of psoriasis is not completely understood, scientists believe it is related to a problem with a type of blood cells called T cells. These cells normally travel through the bloodstream to help fight an infection, but in people with psoriasis, they attack the bodys skin cells by mistake. Genes Play a Role No one knows what causes T cells to go wrong, but certain genes have been linked to psoriasis. People who have these genes are more likely to develop psoriasis than people without the genes. However, genes alone do not cause psoriasis. Scientists believe psoriasis occurs when something in the environment triggers the disease in someone who has one or more of these genes. Psoriasis Triggers These so-called triggers may be different for different people. Different triggers may start the disease or make it worse in different people. Factors that may trigger psoriasis or make it worse include - physical and emotional stress - injury to the skin such as cuts or burns - infections, particularly strep throat - cold weather - smoking or heavy alcohol use - certain medications such as - lithium, a psychiatric drug - antimalarials such as hydroxychloroquine and chloroquine - inderal, a high blood pressure medicine - quinidine, a heart medication - indomethacin, a nonsteroidal anti-inflammatory drug often used to treat arthritis. physical and emotional stress injury to the skin such as cuts or burns infections, particularly strep throat cold weather smoking or heavy alcohol use certain medications such as - lithium, a psychiatric drug - antimalarials such as hydroxychloroquine and chloroquine - inderal, a high blood pressure medicine - quinidine, a heart medication - indomethacin, a nonsteroidal anti-inflammatory drug often used to treat arthritis. lithium, a psychiatric drug antimalarials such as hydroxychloroquine and chloroquine inderal, a high blood pressure medicine quinidine, a heart medication indomethacin, a nonsteroidal anti-inflammatory drug often used to treat arthritis. </s>

<s>[INST] Human: Do you have information about Cochlear Implants [/INST] Assistant: Summary : A cochlear implant is a small, complex electronic device that can help to provide a sense of sound. People who are profoundly deaf or severely hard-of-hearing can get help from them. The implant consists of two parts. One part sits on the outside of the body, behind the ear. A second part is surgically placed under the skin. An implant does not restore normal hearing. It can help a person understand speech. Children and adults can benefit from them. National Institute on Deafness and Other Communication Disorders </s>

<s>[INST] Human: What are the treatments for National Hormone and Pituitary Program (NHPP): Information for People Treated with Pituitary Human Growth Hormone (Comprehensive Report) ? [/INST] Assistant: People treated with pituitary hGH in other countries also got CJD. HHS doctors share information with doctors around the world about health issues such as CJD and read reports about CJD and other health problems related to pituitary hGH treatment. Country Number of CJD Cases Reported* Number of Individuals Treated Source of hGH in Reported Cases New Zealand*** 6 159 United States France 119 1,700 France United Kingdom 75 1,849 United Kingdom Holland 2 unpublished Holland Brazil 2 unpublished United States Australia 1** 608 Australia Austria 1 unpublished pharmaceutical (commercial) Qatar 1 unpublished France Ireland 1 unpublished Not known *as of November 2014 **This case has been recognized by the Australian surveillance authorities as a "possible" (albeit unlikely) CJD case. ***New Zealand has reported six people with CJD among 159 who received pituitary hGH. All six were among 49 people who received pituitary hGH made by the U.S. lab that supplied most NHPP pituitary hGH before 1977. We don't know why this ratesix out of 49 (12.2 percent)is so high in those in New Zealand who received American hormone. HHS scientists believe that this U.S.-made hormone did not undergo the same filtering process used in the United States when the hormone was put into vials. In addition, some hormone preparations sent to New Zealand were not distributed in the United States. New Zealand has little information on the hormone preparations used to treat the people who got CJD. Information provided to the HHS from medical authorities in New Zealand indicated the following dates of pituitary hGH treatment for the six New Zealand patients who developed CJD: 1964 to 1966, 1964 to 1970, 1965 to 1972, 1966 to 1972, 1967 to 1969, and 1970 to 1973. With no common period of treatment, it is unlikely that a single preparation exposed all six patients to CJD. There is some information on the hormone sent to New Zealand from the lab that also produced hormone for the NHPP before 1977. Some preparations and components of preparations were used in both countries and others were distributed only in the United States or in New Zealand. The time between the start of pituitary hGH treatment and the first sign of CJD symptoms was similar in the 29 United States patients (14 to 44 years) and the six New Zealand patients (17 to 37 years). The New Zealand patients who got CJD were treated with pituitary hGH for an average of 4.3 years. In the United States, average treatment time was 8.4 years in patients who got CJD. In France, 119 people with CJD were among the 1,700 treated with pituitary hGH. The pattern of exposure to CJD in France is very different from the pattern in the United States. In France, people who received pituitary hGH in 1984 and 1985 appear to be at highest risk for CJD. We have learned from animal studies that when scientists injected a greater amount of CJD infectious agent into an animal, it took less time for CJD to develop. Because of the larger number of people with CJD and shorter times between treatment and CJD onset in France, the level of infection in French hormone was probably higher than in the U.S. hormone. The purification procedure used in France differed from that begun in 1977 in the United States. The United Kingdom has reported 75 people with CJD among 1,849 who received pituitary hGH. Experts have also found CJD in two people in Holland, two people in Brazil, and one each in Australia, Austria, Qatar, and Ireland. France, the United Kingdom, Holland, and Australia made their own hormone. The Brazilian patients got pituitary hGH from a U.S. lab that also made NHPP hormone before 1977. This was a different lab than the U.S. lab that made hormone for New Zealand. The Qatar patient received pituitary hGH made in France. The Austrian patient received pituitary hGH made by a pharmaceutical company. Four Australian women developed CJD after receiving other human pituitary hormones as fertility treatments. </s>

<s>[INST] Human: Who is at risk for Breast Cancer? ? [/INST] Assistant: Different factors increase or decrease the risk of breast cancer. Anything that increases your chance of getting a disease is called a risk factor. Anything that decreases your chance of getting a disease is called a protective factor. For information about risk factors and protective factors for breast cancer, see the PDQ summary on Breast Cancer Prevention. </s>

<s>[INST] Human: What is (are) Oral leukoplakia ? [/INST] Assistant: Oral leukoplakia is a diagnosis of exclusion. It describes a white plaque that does not rub off and cannot be characterized as any other condition. Though it may occur in any part of the mouth, it generally affects the tongue, gums, and inner cheek. Physicians will usually biopsy oral leukoplakia lesions as 20-40% of cases are precancerous or cancerous at the time of biopsy and another 8-15% become cancerous over time. The exact cause of oral leukoplakia is not known. Factors that may increase the risk of developing oral leukoplakia include smoking, alcohol use, vitamin deficiencies, malocclusion, and a weakened immune system.Treatment depends on the biopsy results and the size, appearance, and location of the oral leukoplakia. Removal or ablation of the lesion by surgery, laser, or cryotherapy (use of low temperature) may be recommended. </s>

<s>[INST] Human: What is (are) Non 24 hour sleep wake disorder ? [/INST] Assistant: Non 24 hour sleep wake disorder refers to a steady pattern of one- to two-hour delays in sleep onset and wake times in people with normal living conditions. This occurs because the period of the person's sleep-wake cycle is longer than 24 hours. The condition most commonly affects people who are blind, due to an impaired sense of light-dark cycles. Non 24 hour sleep wake disorder can also affect sighted people. The cause of the disorder in these cases is incompletely understood, but studies suggest melatonin levels play a role. </s>

<s>[INST] Human: What is (are) Cataract ? [/INST] Assistant: A cataract is a clouding of the lens in your eye. It affects your vision. Cataracts are very common in older people. By age 80, more than half of all Americans either have a cataract or have had cataract surgery. A cataract can occur in either or both eyes. It cannot spread from one eye to the other. Common symptoms are - Blurry vision - Colors that seem faded - Glare - headlights, lamps or sunlight may seem too bright. You may also see a halo around lights. - Not being able to see well at night - Double vision - Frequent prescription changes in your eye wear Cataracts usually develop slowly. New glasses, brighter lighting, anti-glare sunglasses or magnifying lenses can help at first. Surgery is also an option. It involves removing the cloudy lens and replacing it with an artificial lens. Wearing sunglasses and a hat with a brim to block ultraviolet sunlight may help to delay cataracts. NIH: National Eye Institute </s>

<s>[INST] Human: What causes Limbic encephalitis ? [/INST] Assistant: What causes limbic encephalitis? In many patients limbic encephalitis is a paraneoplastic syndrome, which is most commonly associated with small cell lung cancer (SCLC), breast cancer, testicular tumors, teratomas, Hodgkin's lymphoma, and thymomas. Out of the various cancers linked to limbic encephalitis, the typically associated tumors are SCLC, which are present in about 40% of patients that have the paraneoplastic form of limbic encephalitis. Seminoma are present in 25% of patients. At a lower rate, nearly any other tumor may be associated. Limbic encephalitis can also occur in the absence of cancer such as in the case of an viral infection and systemic autoimmune disorders. The underlying cause of limbic encephalitis is probably an autoimmune reaction which is brought about by cancer, tumors, infections, or autoimmune disorders. </s>

<s>[INST] Human: Is familial hemiplegic migraine inherited ? [/INST] Assistant: This 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. In most cases, affected individuals have one affected parent. However, some people who inherit an altered gene never develop features of familial hemiplegic migraine. (This situation is known as reduced penetrance.) A related condition, sporadic hemiplegic migraine, has identical signs and symptoms but occurs in individuals with no history of the disorder in their family. </s>

<s>[INST] Human: How to diagnose Adult Acute Myeloid Leukemia ? [/INST] Assistant: Tests that examine the blood and bone marrow are used to detect (find) and diagnose adult AML. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken. - Complete blood count (CBC): A procedure in which a sample of blood is drawn and checked for the following: - The number of red blood cells, white blood cells, and platelets. - The amount of hemoglobin (the protein that carries oxygen) in the red blood cells. - The portion of the sample made up of red blood cells. - Peripheral blood smear : A procedure in which a sample of blood is checked for blast cells, the number and kinds of white blood cells, the number of platelets, and changes in the shape of blood cells. - Bone marrow aspiration and biopsy : The removal of bone marrow, blood, and a small piece of bone by inserting a hollow needle into the hipbone or breastbone. A pathologist views the bone marrow, blood, and bone under a microscope to look for signs of cancer. - Cytogenetic analysis : A laboratory test in which the cells in a sample of blood or bone marrow are viewed under a microscope to look for certain changes in the chromosomes. Other tests, such as fluorescence in situ hybridization (FISH), may also be done to look for certain changes in the chromosomes. - Immunophenotyping : A process used to identify cells, based on the types of antigens or markers on the surface of the cell. This process is used to diagnose the subtype of AML by comparing the cancer cells to normal cells of the immune system. For example, a cytochemistry study may test the cells in a sample of tissue using chemicals (dyes) to look for certain changes in the sample. A chemical may cause a color change in one type of leukemia cell but not in another type of leukemia cell. - Reverse transcriptionpolymerase chain reaction test (RTPCR): A laboratory test in which cells in a sample of tissue are studied using chemicals to look for certain changes in the structure or function of genes. This test is used to diagnose certain types of AML including acute promyelocytic leukemia (APL). </s>

<s>[INST] Human: What is (are) Skin Cancer ? [/INST] Assistant: Melanoma is the fastest growing and most invasive type of skin cancer. This cancer arises from overgrowth of melanocytes. Melanocytes are specialized skin cells that produce a pigment called melanin. </s>

<s>[INST] Human: What are the genetic changes related to pilomatricoma ? [/INST] Assistant: Mutations in the CTNNB1 gene are found in almost all cases of isolated pilomatricoma. These mutations are somatic, which means they are acquired during a person's lifetime and are present only in tumor cells. Somatic mutations are not inherited. The CTNNB1 gene provides instructions for making a protein called beta-catenin. This protein plays an important role in sticking cells together (cell adhesion) and in communication between cells. It is also involved in cell signaling as part of the WNT signaling pathway. This pathway promotes the growth and division (proliferation) of cells and helps determine the specialized functions a cell will have (differentiation). WNT signaling is involved in many aspects of development before birth, as well as the maintenance and repair of adult tissues. Among its many activities, beta-catenin appears to be necessary for the normal function of hair follicles. This protein is active in cells that make up a part of the hair follicle known as the matrix. These cells divide and mature to form the different components of the hair follicle and the hair shaft. As matrix cells divide, the hair shaft is pushed upward and extends beyond the skin. Mutations in the CTNNB1 gene lead to a version of beta-catenin that is always turned on (constitutively active). The overactive protein triggers matrix cells to divide too quickly and in an uncontrolled way, leading to the formation of a pilomatricoma. Most pilomatrix carcinomas, the malignant version of pilomatricoma, also have somatic mutations in the CTNNB1 gene. It is unclear why some pilomatricomas are cancerous but most others are not. </s>

<s>[INST] Human: Is Diamond-Blackfan anemia inherited ? [/INST] Assistant: This 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. In approximately 45 percent of cases, an affected person inherits the mutation from one affected parent. The remaining cases result from new mutations in the gene and occur in people with no history of the disorder in their family. </s>

<s>[INST] Human: What is (are) Diabetes Type 1 ? [/INST] Assistant: Diabetes means your blood glucose, or blood sugar, levels are too high. With type 1 diabetes, your pancreas does not make insulin. Insulin is a hormone that helps glucose get into your cells to give them energy. Without insulin, too much glucose stays in your blood. Over time, high blood glucose can lead to serious problems with your heart, eyes, kidneys, nerves, and gums and teeth. Type 1 diabetes happens most often in children and young adults but can appear at any age. Symptoms may include - Being very thirsty - Urinating often - Feeling very hungry or tired - Losing weight without trying - Having sores that heal slowly - Having dry, itchy skin - Losing the feeling in your feet or having tingling in your feet - Having blurry eyesight A blood test can show if you have diabetes. If you do, you will need to take insulin for the rest of your life. A blood test called the A1C can check to see how well you are managing your diabetes. NIH: National Institute of Diabetes and Digestive and Kidney Diseases </s>

<s>[INST] Human: Is X-linked infantile nystagmus inherited ? [/INST] Assistant: This condition is inherited in an X-linked pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes in each cell. 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 copies of the X chromosome), one altered copy of the gene in each cell can cause the condition, although affected females may experience less severe symptoms than affected males. Approximately half of the females with only one altered copy of the FRMD7 gene in each cell have no symptoms of this condition. </s>

<s>[INST] Human: What is (are) Trichorhinophalangeal syndrome type 3 ? [/INST] Assistant: Trichorhinophalangeal syndrome type 3 (TRPS3), also known as Sugio-Kajii syndrome, is an extremely rare inherited multisystem disorder. TRPS3 is characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses (the growing ends of bones), as well as severe generalized shortening of all finger and toe bones (brachydactyly). The range and severity of symptoms may vary from case to case. TRPS3 is caused by mutations in the TRPS1 gene which is localized to 8q24.12. TRPS3 is inherited in an autosomal dominant manner. </s>

<s>[INST] Human: What are the treatments for hereditary xanthinuria ? [/INST] Assistant: These resources address the diagnosis or management of hereditary xanthinuria: - Genetic Testing Registry: Deficiency of xanthine oxidase - Genetic Testing Registry: Xanthinuria type 2 - MedlinePlus Encyclopedia: Uric Acid - Blood 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 </s>

<s>[INST] Human: What is (are) Alzheimer's Caregiving ? [/INST] Assistant: To find out about residential care facilities in your area, talk with your support group members, social worker, doctor, family members, and friends. Also, check the following resources. Centers for Medicare and Medicaid Services (CMS) 7500 Security Boulevard Baltimore, MD 21244-1850 1-800-MEDICARE (1-800-633-4227) 1-877-486-2048 (toll-free TTY number) www.medicare.gov MS has a guide, Your Guide to Choosing a Nursing Home or Other Long Term Care," to help older people and their caregivers choose a good nursing home. It describes types of long-term care, questions to ask the nursing home staff, and ways to pay for nursing home care. CMS also offers a service called Nursing Home Compare on its website. This service has information on nursing homes that are Medicare or Medicaid certified. These nursing homes provide skilled nursing care. Please note that there are many other places that provide different levels of health care and help with daily living. Many of these facilities are licensed only at the State level. CMS also has information about the rights of nursing home residents and their caregivers. Joint Commission One Renaissance Boulevard Oakbrook Terrace, IL 60181 1-630-792-5000 www.jointcommission.org The Joint Commission evaluates nursing homes, home health care providers, hospitals, and assisted living facilities to determine whether or not they meet professional standards of care. Consumers can learn more about the quality of health care facilities through their online service at www.qualitycheck.org. Other resources include - AARP 601 E Street, NW Washington, DC 20049 1-888-OUR-AARP (1-888-687-2277) www.aarp.org/family/housing - Assisted Living Federation of America 1650 King Street, Suite 602 Alexandria, VA 22314 1-703-894-1805 www.alfa.org - National Center for Assisted Living 1201 L Street, NW Washington, DC 20005 1-202-842-4444 www.ncal.org AARP 601 E Street, NW Washington, DC 20049 1-888-OUR-AARP (1-888-687-2277) www.aarp.org/family/housing Assisted Living Federation of America 1650 King Street, Suite 602 Alexandria, VA 22314 1-703-894-1805 www.alfa.org National Center for Assisted Living 1201 L Street, NW Washington, DC 20005 1-202-842-4444 www.ncal.org </s>

<s>[INST] Human: Who is at risk for Insomnia? ? [/INST] Assistant: Insomnia is a common disorder. It affects women more often than men. The disorder can occur at any age. However, older adults are more likely to have insomnia than younger people. People who might be at increased risk for insomnia include those who: Have a lot of stress. Are depressed or have other emotional distress, such as divorce or death of a spouse. Have lower incomes. Work at night or have frequent major shifts in their work hours. Travel long distances with time changes. Have certain medical conditions or sleep disorders that can disrupt sleep. For more information, go to "What Causes Insomnia?" Have an inactive lifestyle. Young and middle-aged African Americans also might be at increased risk for insomnia. Research shows that, compared with Caucasian Americans, it takes African Americans longer to fall asleep. They also have lighter sleep, don't sleep as well, and take more naps. Sleep-related breathing problems also are more common among African Americans. </s>

<s>[INST] Human: Is hand-foot-genital syndrome inherited ? [/INST] Assistant: This 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. </s>

<s>[INST] Human: what research (or clinical trials) is being done for Myotonia Congenita ? [/INST] Assistant: The National Institute of Neurological Disorders and Stroke (NINDS) conducts research related to myotonia congenita and also supports additional research through grants to major research institutions across the country. Current research is exploring how, at the molecular level, the defective gene in myotonia congenita causes the specific symptoms of the disorder. Additional research is focused on developing animal models of the disorder to test potential treatments and therapies. </s>

<s>[INST] Human: What is (are) Heart Diseases--Prevention ? [/INST] Assistant: 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 </s>

<s>[INST] Human: What are the symptoms of Blepharophimosis, ptosis, and epicanthus inversus syndrome type 2 ? [/INST] Assistant: What are the signs and symptoms of Blepharophimosis, ptosis, and epicanthus inversus syndrome type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Blepharophimosis, ptosis, and epicanthus inversus syndrome type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Blepharophimosis 90% Depressed nasal bridge 90% Epicanthus 90% Ptosis 90% Decreased fertility 50% Lacrimation abnormality 50% Myopia 50% Nystagmus 7.5% Strabismus 7.5% Synophrys 7.5% Abnormality of the breast - Abnormality of the hair - Amenorrhea - Autosomal dominant inheritance - Cupped ear - Epicanthus inversus - Female infertility - High palate - Hypermetropia - Increased circulating gonadotropin level - Microcornea - Microphthalmia - Premature ovarian failure - Telecanthus - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>

<s>[INST] Human: What is (are) Rh deficiency syndrome ? [/INST] Assistant: The Rh deficiency syndrome, also known as Rh-null syndrome, is a blood disorder where people have red blood cells (RBCs) lacking all Rh antigens. The Rh antigens maintain the integrity of the RBC membrane and therefore, RBCs which lack Rh antigens have an abnormal shape. There are two types of Rh deficiency syndrome: The regulator type is associated with many different changes (mutations) in the RHAG gene . The amorph type is caused by inactive copies of a gene (silent alleles) at the RH locus. As a result, the RBCs do not express any of the Rh antigens. The absence of the Rh complex alters the RBC shape, increases its tendency to break down (osmotic fragility), and shortens its lifespan, resulting in a hemolytic anemia that is usually mild. These patients are at risk of having adverse transfusion reactions because they may produce antibodies against several of the Rh antigens and can only receive blood from people who have the same condition. Rh deficiency syndrome is inherited in an autosomal recessive manner. Management is individualized according to the severity of hemolytic anemia. </s>

<s>[INST] Human: Is Charcot-Marie-Tooth disease inherited ? [/INST] Assistant: The pattern of inheritance varies with the type of Charcot-Marie-Tooth disease. CMT1, most cases of CMT2, and most intermediate forms are inherited in an autosomal dominant pattern. This pattern of inheritance means that one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one affected parent. CMT4, a few CMT2 subtypes, and some intermediate forms are inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition. CMTX is inherited in an X-linked dominant pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome. The inheritance is dominant if one copy of the altered gene is sufficient to cause the condition. In most cases, affected males, who have the alteration on their only copy of the X chromosome, experience more severe symptoms of the disorder than females, who have two X chromosomes. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. All daughters of affected men will have one altered X chromosome, but they may only have mild symptoms of the disorder. Some cases of Charcot-Marie-Tooth disease result from a new mutation and occur in people with no history of the disorder in their family. </s>

<s>[INST] Human: What is (are) Neuroferritinopathy ? [/INST] Assistant: Neuroferritinopathy is a movement disorder caused by the gradual accumulation of iron in the basal ganglia of the brain. People with neuroferritinopathy have progressive problems with movement that begin at about age 40. These movement problems can include involuntary jerking motions (chorea), rhythmic shaking (tremor), difficulty coordinating movements (ataxia), or uncontrolled tensing of muscles (dystonia). Symptoms of the disorder may be more prominent on one side of the body. Affected individuals may also have difficulty swallowing (dysphagia) and speaking (dysarthria). Intelligence is generally unaffected, but some individuals develop a gradual decline in thinking and reasoning abilities (dementia). Personality changes such as reduced inhibitions and difficulty controlling emotions may also occur as the disorder progresses. Neuroferritinopathy is caused by mutations in the FTL gene. It is inherited in an autosomal dominant fashion. </s>

<s>[INST] Human: How to diagnose Creating a Family Health History ? [/INST] Assistant: Genetic testing may be helpful whether the test identifies a mutation or not. Test results can - serve as a relief, eliminating some of the uncertainty about a health condition - help doctors make recommendations for treatment or monitoring - give people information to use in making decisions about their and their familys health - help people take steps to lower the chance of developing a disease through, for example, earlier and more frequent screening or changes in diet and exercise habits - help people make informed choices about their future, such as whether to have a baby. serve as a relief, eliminating some of the uncertainty about a health condition help doctors make recommendations for treatment or monitoring give people information to use in making decisions about their and their familys health help people take steps to lower the chance of developing a disease through, for example, earlier and more frequent screening or changes in diet and exercise habits help people make informed choices about their future, such as whether to have a baby. </s>

<s>[INST] Human: What is (are) Miyoshi myopathy ? [/INST] Assistant: Miyoshi myopathy is a muscle disorder that primarily affects muscles away from the center of the body (distal muscles), such as those in the legs. During early to mid-adulthood, affected individuals typically begin to experience muscle weakness and wasting (atrophy) in one or both calves. If only one leg is affected, the calves appear different in size (asymmetrical). Calf weakness can make it difficult to stand on tiptoe. As Miyoshi myopathy slowly progresses, the muscle weakness and atrophy spread up the leg to the muscles in the thigh and buttock. Eventually, affected individuals may have difficulty climbing stairs or walking for an extended period of time. Some people with Miyoshi myopathy may eventually need wheelchair assistance. Rarely, the upper arm or shoulder muscles are mildly affected in Miyoshi myopathy. In a few cases, abnormal heart rhythms (arrhythmias) have developed. Individuals with Miyoshi myopathy have highly elevated levels of an enzyme called creatine kinase (CK) in their blood, which often indicates muscle disease. </s>

<s>[INST] Human: What is (are) Rickets ? [/INST] Assistant: Rickets is a condition that causes children to have soft, weak bones. It usually occurs when children do not get enough vitamin D, which helps growing bones absorb important nutrients. Vitamin D comes from sunlight and food. Skin produces vitamin D in response to the sun's rays. Some foods also contain vitamin D, including fortified dairy products and cereals, and some kinds of fish. </s>

<s>[INST] Human: What are the symptoms of Charcot-Marie-Tooth disease with ptosis and parkinsonism ? [/INST] Assistant: What are the signs and symptoms of Charcot-Marie-Tooth disease with ptosis and parkinsonism? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease with ptosis and parkinsonism. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal atrioventricular conduction - Atrioventricular block - Autosomal dominant inheritance - Autosomal recessive inheritance - Axonal loss - Central hypoventilation - Chronic diarrhea - Chronic sensorineural polyneuropathy - Decreased nerve conduction velocity - Degeneration of anterior horn cells - Dementia - Distal amyotrophy - Enhanced neurotoxicity of vincristine - Gliosis - Hyperhidrosis - Hyperreflexia - Nausea - Orthostatic hypotension - Parkinsonism - Penetrating foot ulcers - Peroneal muscle atrophy - Peroneal muscle weakness - Pes cavus - Ptosis - Sensory neuropathy - Trophic limb changes - Vomiting - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>

<s>[INST] Human: What are the genetic changes related to pseudoxanthoma elasticum ? [/INST] Assistant: Mutations in the ABCC6 gene cause PXE. This gene provides instructions for making a protein called MRP6 (also known as the ABCC6 protein). This protein is found primarily in cells of the liver and kidneys, with small amounts in other tissues, including the skin, stomach, blood vessels, and eyes. MRP6 is thought to transport certain substances across the cell membrane; however, the substances have not been identified. Some studies suggest that the MRP6 protein stimulates the release of a molecule called adenosine triphosphate (ATP) from cells through an unknown mechanism. ATP can be broken down into other molecules, including adenosine monophosphate (AMP) and pyrophosphate. Pyrophosphate helps control deposition of calcium and other minerals in the body. Other studies suggest that a substance transported by MRP6 is involved in the breakdown of ATP. This unidentified substance is thought to help prevent mineralization of tissues. Mutations in the ABCC6 gene lead to an absent or nonfunctional MRP6 protein. It is unclear how a lack of properly functioning MRP6 protein leads to PXE. This shortage may impair the release of ATP from cells. As a result, little pyrophosphate is produced, and calcium and other minerals accumulate in elastic fibers of the skin, eyes, blood vessels and other tissues affected by PXE. Alternatively, a lack of functioning MRP6 may impair the transport of a substance that would normally prevent mineralization, leading to the abnormal accumulation of calcium and other minerals characteristic of PXE. </s>

<s>[INST] Human: What is (are) KBG syndrome ? [/INST] Assistant: KBG syndrome is a rare condition characterized mainly by skeletal abnormalities, distinctive facial features, and intellectual disability. Specific signs and symptoms may include delayed bone age; abnormalities of the bones of the spine, ribs, and/or hands; large teeth (macrodontia); short stature; developmental delay; and behavioral or emotional issues. Less common features may include hearing loss, seizures, and congenital heart defects. In some cases, KBG syndrome is caused by a mutation in the ANKRD11 gene and is inherited in an autosomal dominant manner. In other cases, the genetic cause is unclear. Some affected people inherit the condition from a parent, while in other people it occurs sporadically. </s>

<s>[INST] Human: What causes Dry Eye ? [/INST] Assistant: If your eyes dont make enough tears it can cause dry eye. Anything that changes the components of tears can cause dry eye. Many factors can lead to dry eye, including aging, medications, problems with eyelid function, disease, some types of eye surgery, environmental factors, and allergies. </s>

<s>[INST] Human: What causes Cushing's Syndrome ? [/INST] Assistant: Cushing's syndrome occurs when the body's tissues are exposed to high levels of cortisol for too long. Many people develop Cushing's syndrome because they take glucocorticoids-steroid hormones that are chemically similar to naturally produced cortisolsuch as prednisone for asthma, rheumatoid arthritis, lupus, and other inflammatory diseases. Glucocorticoids are also used to suppress the immune system after transplantation to keep the body from rejecting the new organ or tissue. Other people develop Cushing's syndrome because their bodies produce too much cortisol. Normally, the production of cortisol follows a precise chain of events. First, the hypothalamus, a part of the brain about the size of a small sugar cube, sends corticotropin-releasing hormone (CRH) to the pituitary gland. CRH causes the pituitary to secrete adrenocorticotropin hormone (ACTH), which stimulates the adrenal glands. When the adrenals, which are located just above the kidneys, receive the ACTH, they respond by releasing cortisol into the bloodstream. Cortisol performs vital tasks in the body including - helping maintain blood pressure and cardiovascular function - reducing the immune system's inflammatory response - balancing the effects of insulin, which breaks down glucose for energy - regulating the metabolism of proteins, carbohydrates, and fats One of cortisol's most important jobs is to help the body respond to stress. For this reason, women in their last 3 months of pregnancy and highly trained athletes normally have high levels of the hormone. People suffering from depression, alcoholism, malnutrition, or panic disorders also have increased cortisol levels. When the amount of cortisol in the blood is adequate, the hypothalamus and pituitary release less CRH and ACTH. This process ensures the amount of cortisol released by the adrenal glands is precisely balanced to meet the bodys daily needs. However, if something goes wrong with the adrenals or the regulating switches in the pituitary gland or hypothalamus, cortisol production can go awry. Pituitary Adenomas Pituitary adenomas cause 70 percent of Cushing's syndrome cases,1 excluding those caused by glucocorticoid use. These benign, or noncancerous, tumors of the pituitary gland secrete extra ACTH. Most people with the disorder have a single adenoma. This form of the syndrome, known as Cushing's disease, affects women five times more often than men. Ectopic ACTH Syndrome Some benign or, more often, cancerous tumors that arise outside the pituitary can produce ACTH. This condition is known as ectopic ACTH syndrome. Lung tumors cause more than half of these cases, and men are affected three times more often than women. The most common forms of ACTH-producing tumors are small cell lung cancer, which accounts for about 13 percent of all lung cancer cases,2 and carcinoid tumors-small, slow-growing tumors that arise from hormone-producing cells in various parts of the body. Other less common types of tumors that can produce ACTH are thymomas, pancreatic islet cell tumors, and medullary carcinomas of the thyroid. Adrenal Tumors In rare cases, an abnormality of the adrenal glands, most often an adrenal tumor, causes Cushing's syndrome. Adrenal tumors are four to five times more common in women than men, and the average age of onset is about 40. Most of these cases involve noncancerous tumors of adrenal tissue called adrenal adenomas, which release excess cortisol into the blood. Adrenocortical carcinomas-adrenal cancers-are the least common cause of Cushing's syndrome. With adrenocortical carcinomas, cancer cells secrete excess levels of several adrenocortical hormones, including cortisol and adrenal androgens, a type of male hormone. Adrenocortical carcinomas usually cause very high hormone levels and rapid development of symptoms. Familial Cushing's Syndrome Most cases of Cushing's syndrome are not inherited. Rarely, however, Cushing's syndrome results from an inherited tendency to develop tumors of one or more endocrine glands. Endocrine glands release hormones into the bloodstream. With primary pigmented micronodular adrenal disease, children or young adults develop small cortisol-producing tumors of the adrenal glands. With multiple endocrine neoplasia type 1 (MEN1), hormone-secreting tumors of the parathyroid glands, pancreas, and pituitary develop; Cushing's syndrome in MEN1 may be due to pituitary, ectopic, or adrenal tumors. </s>

<s>[INST] Human: What causes Russell-Silver syndrome ? [/INST] Assistant: What causes Russell-Silver syndrome? Russell-Silver syndrome (RSS) is a genetic disorder that usually results from the abnormal regulation of certain genes that control growth. Two genetic causes have been found to result in the majority of cases: abnormalities at an imprinted region on chromosome 11p15 - for some genes, only the copy inherited from a person's father (paternal copy) or mother (maternal copy) is "turned on," or expressed. These parent-specific differences in gene expression are caused by a phenomenon called genomic imprinting. Abnormalities involving genes that undergo imprinting are responsible for many cases of RSS. maternal disomy of chromosome 7 (written as matUPD7) - this occurs when a child inherits both copies of chromosome 7 from the mother, instead of one copy from the mother and one copy from the father. Other chromosome abnormalities involving any of several chromosomes have also been described as causing RSS, or RSS-like syndromes. In some people with RSS, the underlying cause remains unknown. </s>

<s>[INST] Human: What are the treatments for Pseudohypoaldosteronism type 2 ? [/INST] Assistant: How might pseudohypoaldosteronism type 2 be treated? Pseudohypoaldosteronism may be treated with thiazide diuretics and dietary restriction of sodium. </s>

<s>[INST] Human: What is (are) Chronic active Epstein-Barr virus infection ? [/INST] Assistant: Chronic active Epstein-Barr virus infection is a rare condition in which the body makes too many lymphocytes, a type of white blood cell. Lymphocytes are an important part of the immune system because they help fight off diseases and protect the body from infection. About 95% of adults are infected with Epstein-Barr virus (EBV). Most infections occur during childhood and do not cause any symptoms. EBV infection in adolescents or young adults can often result in infectious mononucleosis. Rarely, people infected with EBV develop a life-threatening condition called chronic active EBV virus (CAEBV). Patients with CAEBV most often have fever, liver dysfunction, an enlarged spleen (splenomegaly), swollen lymph nodes (lymphadenopathy), and low numbers of platelets (thrombocytopenia). Hematopoietic stem cell transplantation has shown promise in the treatment of CAEBV. </s>

<s>[INST] Human: How to diagnose Chromosome 4q deletion ? [/INST] Assistant: How is chromosome 4q deletion diagnosed? There are several different specialized tests that can be used to diagnose a chromosome 4q deletion. These include: Karyotype - a karyotype is a laboratory test that produces an image of a person's chromosomes. This test can be used to diagnose large deletions. FISH - a laboratory technique that is used to detect and locate a specific DNA sequence on a chromosome. During FISH, a chromosome is exposed to a small DNA sequence called a probe that has a fluorescent molecule attached to it. The probe sequence binds to its corresponding sequence on the chromosome. This test can be used in combination with karyotyping for deletions that are too small to be seen on karyotype, alone. However, FISH is only useful if the person ordering the test suspects there is a deletion of a specific region of 4q. Array CGH - a technology that detects deletions that are too small to be seen on karyotype. </s>

<s>[INST] Human: What is the outlook for Syncope ? [/INST] Assistant: Syncope is a dramatic event and can be life-threatening if not treated properly. Generally, however, people recover completely within minutes to hours. If syncope is symptomatic of an underlying condition, then the prognosis will reflect the course of the disorder. </s>

<s>[INST] Human: What is (are) Congenital radio-ulnar synostosis ? [/INST] Assistant: Congenital radio-ulnar synostosis is a rare condition in which there is an abnormal connection (synostosis) of the radius and ulna (bones in the forearm) at birth. The condition is present in both arms (bilateral) in approximately 60% of cases. Signs and symptoms depend on the severity of the abnormality and whether it is bilateral; affected individuals often have limited rotational movement of the forearm. Pain is usually not present until the teenage years. It is due to abnormal fetal development of the forearm bones, but the underlying cause is not always known. It is sometimes a feature of certain chromosome abnormalities or genetic syndromes. Some cases appear to be inherited in an autosomal dominant manner. Treatment may be conservative or involve surgery depending on the severity of the abnormality and the range of movement. </s>

<s>[INST] Human: What causes Cri du chat syndrome ? [/INST] Assistant: What causes cri du chat syndrome? Cri du chat syndrome is caused by a deletion of the end of the short (p) arm of chromosome 5. This chromosomal change is written as 5p-. The size of the deletion varies among affected individuals but studies suggest that larger deletions tend to result in more severe intellectual disability and developmental delay than smaller deletions. The signs and symptoms of cri du chat syndrome are probably related to the loss of multiple genes on the short arm of chromosome 5. Researchers believe that the loss of a specific gene, CTNND2, is associated with severe intellectual disability in some people with this condition. They are working to determine how the loss of other genes in this region contributes to the characteristic features of cri du chat syndrome. </s>

<s>[INST] Human: What are the symptoms of 17q23.1q23.2 microdeletion syndrome ? [/INST] Assistant: What are the signs and symptoms of 17q23.1q23.2 microdeletion syndrome? 17q23.1q23.2 microdeletion syndrome is characterized by developmental delay, microcephaly, short stature, heart defects and hand, foot and limb abnormalities. All individuals reported to date have had mild to moderate developmental delay, in particular delays in speech. Most have had heart defects, including patent ductus arteriosus or atrial septal defects. Limb abnormalities include long, thin fingers and toes, and hypoplasia (underdevelopment) of the patellae (knee caps). Scoliosis may also be present. Many patients have also had mild and unspecific unusual facial features. The Human Phenotype Ontology provides the following list of signs and symptoms for 17q23.1q23.2 microdeletion syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Arachnodactyly 90% Cognitive impairment 90% Long toe 90% Frontal bossing 50% Intrauterine growth retardation 50% Microcephaly 50% Neurological speech impairment 50% Patent ductus arteriosus 50% Pulmonary hypertension 50% Short stature 50% Abnormality of epiphysis morphology 7.5% Abnormality of the eyelashes 7.5% Abnormality of the hip bone 7.5% Abnormality of the teeth 7.5% Atria septal defect 7.5% Behavioral abnormality 7.5% Blepharitis 7.5% Camptodactyly of toe 7.5% Clinodactyly of the 5th finger 7.5% Depressed nasal bridge 7.5% Epicanthus 7.5% Hearing impairment 7.5% Highly arched eyebrow 7.5% Hyperreflexia 7.5% Hypertelorism 7.5% Limitation of joint mobility 7.5% Low-set, posteriorly rotated ears 7.5% Malar flattening 7.5% Midline defect of the nose 7.5% Muscular hypotonia 7.5% Narrow mouth 7.5% Otitis media 7.5% Patellar aplasia 7.5% Pes planus 7.5% Respiratory insufficiency 7.5% Sacral dimple 7.5% Sandal gap 7.5% Scoliosis 7.5% Shawl scrotum 7.5% Single transverse palmar crease 7.5% Strabismus 7.5% Abnormal facial shape - Aggressive behavior - Bicuspid aortic valve - Intellectual disability, mild - Long fingers - Postnatal growth retardation - Slender finger - Small for gestational age - Sporadic - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>

<s>[INST] Human: What are the symptoms of 3 methylglutaconic aciduria type V ? [/INST] Assistant: What are the signs and symptoms of 3 methylglutaconic aciduria type V? The Human Phenotype Ontology provides the following list of signs and symptoms for 3 methylglutaconic aciduria type V. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) 3-Methylglutaric aciduria - Autosomal recessive inheritance - Congestive heart failure - Cryptorchidism - Decreased testicular size - Dilated cardiomyopathy - Glutaric aciduria - Hypospadias - Intellectual disability - Intrauterine growth retardation - Microvesicular hepatic steatosis - Muscle weakness - Noncompaction cardiomyopathy - Nonprogressive cerebellar ataxia - Normochromic microcytic anemia - Optic atrophy - Prolonged QT interval - Sudden cardiac death - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>

<s>[INST] Human: What is (are) Congenital Heart Defects ? [/INST] Assistant: A congenital heart defect is a problem with the structure of the heart. It is present at birth. Congenital heart defects are the most common type of birth defect. The defects can involve the walls of the heart, the valves of the heart, and the arteries and veins near the heart. They can disrupt the normal flow of blood through the heart. The blood flow can slow down, go in the wrong direction or to the wrong place, or be blocked completely. Doctors use a physical exam and special heart tests to diagnose congenital heart defects. They often find severe defects during pregnancy or soon after birth. Signs and symptoms of severe defects in newborns include - Rapid breathing - Cyanosis - a bluish tint to the skin, lips, and fingernails - Fatigue - Poor blood circulation Many congenital heart defects cause few or no signs and symptoms. They are often not diagnosed until children are older. Many children with congenital heart defects don't need treatment, but others do. Treatment can include medicines, catheter procedures, surgery, and heart transplants. The treatment depends on the type of the defect, how severe it is, and a child's age, size, and general health. NIH: National Heart, Lung, and Blood Institute </s>

<s>[INST] Human: What are the symptoms of Antecubital pterygium ? [/INST] Assistant: What are the signs and symptoms of Antecubital pterygium? The Human Phenotype Ontology provides the following list of signs and symptoms for Antecubital pterygium. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the fingernails 90% Abnormality of the toenails 90% Abnormality of the ulna 90% Amniotic constriction ring 90% Aplasia/Hypoplasia of the radius 90% Limitation of joint mobility 90% Abnormality of pelvic girdle bone morphology 50% Elbow dislocation 50% Camptodactyly of finger 7.5% Displacement of the external urethral meatus 7.5% Glaucoma 7.5% Hand polydactyly 7.5% Nephropathy 7.5% Patellar aplasia 7.5% Urogenital fistula 7.5% Antecubital pterygium - Autosomal dominant inheritance - Limited elbow extension - Maldevelopment of radioulnar joint - Posterior subluxation of radial head - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>

<s>[INST] Human: What is (are) homocystinuria ? [/INST] Assistant: Homocystinuria is an inherited disorder in which the body is unable to process certain building blocks of proteins (amino acids) properly. There are multiple forms of homocystinuria, which are distinguished by their signs and symptoms and genetic cause. The most common form of homocystinuria is characterized by nearsightedness (myopia), dislocation of the lens at the front of the eye, an increased risk of abnormal blood clotting, and brittle bones that are prone to fracture (osteoporosis) or other skeletal abnormalities. Some affected individuals also have developmental delay and learning problems. Less common forms of homocystinuria can cause intellectual disability, failure to grow and gain weight at the expected rate (failure to thrive), seizures, problems with movement, and a blood disorder called megaloblastic anemia. Megaloblastic anemia occurs when a person has a low number of red blood cells (anemia), and the remaining red blood cells are larger than normal (megaloblastic). The signs and symptoms of homocystinuria typically develop within the first year of life, although some mildly affected people may not develop features until later in childhood or adulthood. </s>

<s>[INST] Human: What are the treatments for ALG12-congenital disorder of glycosylation ? [/INST] Assistant: These resources address the diagnosis or management of ALG12-CDG: - Gene Review: Gene Review: Congenital Disorders of N-Linked Glycosylation Pathway Overview - Genetic Testing Registry: Congenital disorder of glycosylation type 1G 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 </s>

<s>[INST] Human: Is Congenital central hypoventilation syndrome inherited ? [/INST] Assistant: How is congenital central hypoventilation syndrome inherited? Congenital central hypoventilation syndrome (CCHS) 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. The genetics of CCHS can be complex. Most people with CCHS have a new (de novo) mutation in the responsible gene (the PHOX2B gene). De novo mutations occur for the first time in the affected person and are not inherited from a parent. Some people with CCHS have a parent with the condition, and inherit the mutation from that parent. In some cases, an asymptomatic parent of a person with symptoms has a PHOX2B mutation in some of their germ cells (egg or sperm cells, not body cells). This is called germline mosaicism. Some of these parents also have a PHOX2B mutation in some of their body cells. This is called somatic mosaicism. Germline mosaicism with or without somatic mosaicism is present in about 25% of asymptomatic parents of people with CCHS. Parents with mosaicism should have a comprehensive assessment to determine if any features of CCHS are present. It is also recommended that parents of a person with a presumed de novo mutation have genetic testing for the presence of the mutation, including testing that detects mosaicism at low levels. </s>

<s>[INST] Human: What are the treatments for Diabetes ? [/INST] Assistant: Diabetes is a very serious disease. Over time, diabetes that is not well managed causes serious damage to the eyes, kidneys, nerves, and heart, gums and teeth. If you have diabetes, you are more likely than someone who does not have diabetes to have heart disease or a stroke. People with diabetes also tend to develop heart disease or stroke at an earlier age than others. The best way to protect yourself from the serious complications of diabetes is to manage your blood glucose, blood pressure, and cholesterol and avoid smoking. It is not always easy, but people who make an ongoing effort to manage their diabetes can greatly improve their overall health. </s>

<s>[INST] Human: What are the symptoms of Schimke immunoosseous dysplasia ? [/INST] Assistant: What are the signs and symptoms of Schimke immunoosseous dysplasia? Schimke immunoosseous dysplasia is characterized by short stature, kidney disease, and a weakened immune system. In people with this condition, short stature is caused by flattened spinal bones (vertebrae), resulting in a shortened neck and trunk. Adult height is typically between 3 and 5 feet. Kidney (renal) disease often leads to life-threatening renal failure and end-stage renal disease (ESRD). Affected individuals also have a shortage of certain immune system cells called T cells. T cells identify foreign substances and defend the body against infection. A shortage of T cells causes a person to be more susceptible to illness. Other features frequently seen in people with this condition include an exaggerated curvature of the lower back (lordosis); darkened patches of skin (hyperpigmentation), typically on the chest and back; and a broad nasal bridge with a rounded tip of the nose. Less common signs and symptoms of Schimke immuno-osseous dysplasia include an accumulation of fatty deposits and scar-like tissue in the lining of the arteries (atherosclerosis), reduced blood flow to the brain (cerebral ischemia), migraine-like headaches, an underactive thyroid gland (hypothyroidism), decreased numbers of white blood cells (lymphopenia), underdeveloped hip bones (hypoplastic pelvis), abnormally small head size (microcephaly), a lack of sperm (azoospermia) in males, and irregular menstruation in females. In severe cases, many signs of Schimke immuno-osseous dysplasia can be present at birth. People with mild cases of this disorder may not develop signs or symptoms until late childhood. The Human Phenotype Ontology provides the following list of signs and symptoms for Schimke immunoosseous dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anemia 90% Cellular immunodeficiency 90% Depressed nasal bridge 90% Glomerulopathy 90% Intrauterine growth retardation 90% Lymphopenia 90% Melanocytic nevus 90% Microdontia 90% Nephrotic syndrome 90% Proteinuria 90% Short neck 90% Thrombocytopenia 90% Cafe-au-lait spot 50% Abnormal immunoglobulin level - Abnormality of T cells - Arteriosclerosis - Astigmatism - Autosomal recessive inheritance - Bulbous nose - Coarse hair - Disproportionate short-trunk short stature - Fine hair - Focal segmental glomerulosclerosis - High pitched voice - Hypermelanotic macule - Hypertension - Hypoplasia of the capital femoral epiphysis - Lateral displacement of the femoral head - Lumbar hyperlordosis - Motor delay - Myopia - Neutropenia - Opacification of the corneal stroma - Osteopenia - Ovoid vertebral bodies - Platyspondyly - Protuberant abdomen - Recurrent infections - Renal insufficiency - Shallow acetabular fossae - Spondyloepiphyseal dysplasia - Thoracic kyphosis - Thyroid-stimulating hormone excess - Transient ischemic attack - Waddling gait - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>

<s>[INST] Human: How to diagnose Cushing's Syndrome ? [/INST] Assistant: Diagnosis is based on a review of a person's medical history, a physical examination, and laboratory tests. X rays of the adrenal or pituitary glands can be useful in locating tumors. Tests to Diagnose Cushing's Syndrome No single lab test is perfect and usually several are needed. The three most common tests used to diagnose Cushing's syndrome are the 24-hour urinary free cortisol test, measurement of midnight plasma cortisol or late-night salivary cortisol, and the low-dose dexamethasone suppression test. Another test, the dexamethasone-corticotropin-releasing hormone test, may be needed to distinguish Cushing's syndrome from other causes of excess cortisol. - 24-hour urinary free cortisol level. In this test, a person's urine is collected several times over a 24-hour period and tested for cortisol. Levels higher than 50 to 100 micrograms a day for an adult suggest Cushing's syndrome. The normal upper limit varies in different laboratories, depending on which measurement technique is used. - Midnight plasma cortisol and late-night salivary cortisol measurements. The midnight plasma cortisol test measures cortisol concentrations in the blood. Cortisol production is normally suppressed at night, but in Cushing's syndrome, this suppression doesn't occur. If the cortisol level is more than 50 nanomoles per liter (nmol/L), Cushing's syndrome is suspected. The test generally requires a 48-hour hospital stay to avoid falsely elevated cortisol levels due to stress. However, a late-night or bedtime saliva sample can be obtained at home, then tested to determine the cortisol level. Diagnostic ranges vary, depending on the measurement technique used. - Low-dose dexamethasone suppression test (LDDST). In the LDDST, a person is given a low dose of dexamethasone, a synthetic glucocorticoid, by mouth every 6 hours for 2 days. Urine is collected before dexamethasone is administered and several times on each day of the test. A modified LDDST uses a onetime overnight dose. Cortisol and other glucocorticoids signal the pituitary to release less ACTH, so the normal response after taking dexamethasone is a drop in blood and urine cortisol levels. If cortisol levels do not drop, Cushing's syndrome is suspected. The LDDST may not show a drop in cortisol levels in people with depression, alcoholism, high estrogen levels, acute illness, or stress, falsely indicating Cushing's syndrome. On the other hand, drugs such as phenytoin and phenobarbital may cause cortisol levels to drop, falsely indicating that Cushings is not present in people who actually have the syndrome. For this reason, physicians usually advise their patients to stop taking these drugs at least 1 week before the test. - Dexamethasone-corticotropin-releasing hormone (CRH) test. Some people have high cortisol levels but do not develop the progressive effects of Cushing's syndrome, such as muscle weakness, fractures, and thinning of the skin. These people may have pseudo-Cushing's syndrome, a condition sometimes found in people who have depression or anxiety disorders, drink excess alcohol, have poorly controlled diabetes, or are severely obese. Pseudo-Cushings does not have the same long-term effects on health as Cushing's syndrome and does not require treatment directed at the endocrine glands. The dexamethasone-CRH test rapidly distinguishes pseudo-Cushing's from mild cases of Cushing's. This test combines the LDDST and a CRH stimulation test. In the CRH stimulation test, an injection of CRH causes the pituitary to secrete ACTH. Pretreatment with dexamethasone prevents CRH from causing an increase in cortisol in people with pseudo-Cushing's. Elevations of cortisol during this test suggest Cushing's syndrome. Tests to Find the Cause of Cushing's Syndrome Once Cushing's syndrome has been diagnosed, other tests are used to find the exact location of the abnormality that leads to excess cortisol production. The choice of test depends, in part, on the preference of the endocrinologist or the center where the test is performed. - CRH stimulation test. The CRH test, without pretreatment with dexamethasone, helps separate people with pituitary adenomas from those with ectopic ACTH syndrome or adrenal tumors. As a result of the CRH injection, people with pituitary adenomas usually experience a rise in blood levels of ACTH and cortisol because CRH acts directly on the pituitary. This response is rarely seen in people with ectopic ACTH syndrome and practically never in those with adrenal tumors. - high-dose dexamethasone suppression test (HDDST). The HDDST is the same as the LDDST, except it uses higher doses of dexamethasone. This test helps separate people with excess production of ACTH due to pituitary adenomas from those with ectopic ACTH-producing tumors. High doses of dexamethasone usually suppress cortisol levels in people with pituitary adenomas but not in those with ectopic ACTH-producing tumors. - Radiologic imaging: direct visualization of the endocrine glands. Imaging tests reveal the size and shape of the pituitary and adrenal glands and help determine if a tumor is present. The most common imaging tests are the computerized tomography (CT) scan and magnetic resonance imaging (MRI). A CT scan produces a series of x-ray pictures giving a cross-sectional image of a body part. MRI also produces images of internal organs but without exposing patients to ionizing radiation. Imaging procedures are used to find a tumor after a diagnosis has been made. Imaging is not used to make the diagnosis of Cushing's syndrome because benign tumors are commonly found in the pituitary and adrenal glands. These tumors, sometimes called incidentalomas, do not produce hormones in quantities that are harmful. They are not removed unless blood tests show they are a cause of symptoms or they are unusually large. Conversely, pituitary tumors may not be detectable by imaging in almost half of people who ultimately need pituitary surgery for Cushing's syndrome. - Petrosal sinus sampling. This test is not always required, but in many cases, it is the best way to distinguish pituitary from ectopic causes of Cushing's syndrome. Samples of blood are drawn from the petrosal sinuses-veins that drain the pituitary-by inserting tiny tubes through a vein in the upper thigh or groin region. A local anesthetic and mild sedation are given, and x rays are taken to confirm the correct position of the tubes. Often CRH, the hormone that causes the pituitary to release ACTH, is given during this test to improve diagnostic accuracy. Levels of ACTH in the petrosal sinuses are measured and compared with ACTH levels in a forearm vein. Higher levels of ACTH in the sinuses than in the forearm vein indicate a pituitary adenoma. Similar levels of ACTH in the petrosal sinuses and the forearm suggest ectopic ACTH syndrome. </s>

<s>[INST] Human: What is (are) caudal regression syndrome ? [/INST] Assistant: Caudal regression syndrome is a disorder that impairs the development of the lower (caudal) half of the body. Affected areas can include the lower back and limbs, the genitourinary tract, and the gastrointestinal tract. In this disorder, the bones of the lower spine (vertebrae) are frequently misshapen or missing, and the corresponding sections of the spinal cord are also irregular or missing. Affected individuals may have incomplete closure of the vertebrae around the spinal cord, a fluid-filled sac on the back covered by skin that may or may not contain part of the spinal cord, or tufts of hair at the base of the spine. People with caudal regression syndrome can also have an abnormal side-to-side curvature of the spine (scoliosis). The spinal abnormalities may affect the size and shape of the chest, leading to breathing problems in some individuals. Individuals with caudal regression syndrome may have small hip bones with a limited range of motion. The buttocks tend to be flat and dimpled. The bones of the legs are typically underdeveloped, most frequently the upper leg bones (femurs). In some individuals, the legs are bent with the knees pointing out to the side and the feet tucked underneath the hips (sometimes called a frog leg-like position). Affected individuals may be born with inward- and upward-turning feet (clubfeet), or the feet may be outward- and upward-turning (calcaneovalgus). Some people experience decreased sensation in their lower limbs. Abnormalities in the genitourinary tract in caudal regression syndrome are extremely varied. Often the kidneys are malformed; defects include a missing kidney (unilateral renal agenesis), kidneys that are fused together (horseshoe kidney), or duplication of the tubes that carry urine from each kidney to the bladder (ureteral duplication). These kidney abnormalities can lead to frequent urinary tract infections and progressive kidney failure. Additionally, affected individuals may have protrusion of the bladder through an opening in the abdominal wall (bladder exstrophy). Damage to the nerves that control bladder function, a condition called neurogenic bladder, causes affected individuals to have progressive difficulty controlling the flow of urine. Genital abnormalities in males can include the urethra opening on the underside of the penis (hypospadia) or undescended testes (cryptorchidism). Females may have an abnormal connection between the rectum and vagina (rectovaginal fistula). In severe cases, both males and females have a lack of development of the genitalia (genital agenesis). People with caudal regression syndrome may have abnormal twisting (malrotation) of the large intestine, an obstruction of the anal opening (imperforate anus), soft out-pouchings in the lower abdomen (inguinal hernias), or other malformations of the gastrointestinal tract. Affected individuals are often constipated and may experience loss of control of bladder and bowel function. </s>

<s>[INST] Human: How to diagnose Foodborne Illnesses ? [/INST] Assistant: To diagnose foodborne illnesses, health care providers ask about symptoms, foods and beverages recently consumed, and medical history. Health care providers will also perform a physical examination to look for signs of illness. Diagnostic tests for foodborne illnesses may include a stool culture, in which a sample of stool is analyzed in a laboratory to check for signs of infections or diseases. A sample of vomit or a sample of the suspected food, if available, may also be tested. A health care provider may perform additional medical tests to rule out diseases and disorders that cause symptoms similar to the symptoms of foodborne illnesses. If symptoms of foodborne illnesses are mild and last only a short time, diagnostic tests are usually not necessary. </s>

<s>[INST] Human: What are the genetic changes related to primary spontaneous pneumothorax ? [/INST] Assistant: Mutations in the FLCN gene can cause primary spontaneous pneumothorax, although these mutations appear to be a very rare cause of this condition. The FLCN gene provides instructions for making a protein called folliculin. In the lungs, folliculin is found in the connective tissue cells that allow the lungs to contract and expand when breathing. Folliculin is also produced in cells that line the small air sacs (alveoli). Researchers have not determined the protein's function, but they believe it may help control the growth and division of cells. Folliculin may play a role in repairing and re-forming lung tissue following damage. Researchers have not determined how FLCN gene mutations lead to the formation of blebs and increase the risk of primary spontaneous pneumothorax. One theory is that the altered folliculin protein may trigger inflammation within the lung tissue that could alter and damage the tissue, causing blebs. Primary spontaneous pneumothorax most often occurs in people without an identified gene mutation. The cause of the condition in these individuals is often unknown. Tall young men are at increased risk of developing primary spontaneous pneumothorax; researchers suggest that rapid growth of the chest during growth spurts may increase the likelihood of forming blebs. Smoking can also contribute to the development of primary spontaneous pneumothorax. </s>

<s>[INST] Human: Who is at risk for Ovarian Epithelial, Fallopian Tube, and Primary Peritoneal Cancer? ? [/INST] Assistant: Women who have a family history of ovarian cancer are at an increased risk of ovarian cancer. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. Talk with your doctor if you think you may be at risk. Women who have one first-degree relative (mother, daughter, or sister) with a history of ovarian cancer have an increased risk of ovarian cancer. This risk is higher in women who have one first-degree relative and one second-degree relative (grandmother or aunt) with a history of ovarian cancer. This risk is even higher in women who have two or more first-degree relatives with a history of ovarian cancer. </s>

<s>[INST] Human: What is the outlook for Neurosarcoidosis ? [/INST] Assistant: The prognosis for patients with neurosarcoidosis varies. Approximately two-thirds of those with the condition will recover completely; the remainder will have a chronically progressing or on-and-off course of illness. Complications resulting from immunosuppressive treatments, such as cryptococcal and tuberculous meningitis, progressive multifocal leukoencephalopathy, and inclusion body myositis, may be fatal for a small percentage of individuals. </s>

<s>[INST] Human: How many people are affected by alpha-methylacyl-CoA racemase deficiency ? [/INST] Assistant: AMACR deficiency is a rare disorder. Its prevalence is unknown. At least 10 cases have been described in the medical literature. </s>

<s>[INST] Human: What is (are) Coffin Lowry Syndrome ? [/INST] Assistant: Coffin-Lowry syndrome is a rare genetic disorder characterized by craniofacial (head and facial) and skeletal abnormalities, delayed intellectual development, short stature, and hypotonia. Characteristic facial features may include an underdeveloped upper jaw bone (maxillary hypoplasia), a broad nose, protruding nostrils (nares), an abnormally prominent brow, down-slanting eyelid folds (palpebral fissures), widely spaced eyes (hypertelorism), large low-set ears, and unusually thick eyebrows. Skeletal abnormalities may include abnormal front-to-back and side-to-side curvature of the spine (kyphoscoliosis), unusual prominence of the breastbone (pigeon chest, or pectus carinatum), dental abnormalities, and short, hyperextensible, tapered fingers. Other features may include feeding and respiratory problems, developmental delay, hearing impairment, awkward gait, stimulus-induced drop episodes, and heart and kidney involvement. The disorder affects males and females in equal numbers, but symptoms are usually more severe in males. The disorder is caused by a defective gene, RSK2, which is found in 1996 on the X chromosome (Xp22.2-p22.1). Thus, the syndrome is typically more severe in males because males have only one X chromosome, while females have two. It is unclear how changes (mutations) in the DNA structure of the gene lead to the clinical findings. </s>

<s>[INST] Human: Who is at risk for Parasites - Scabies? ? [/INST] Assistant: Transmission Human scabies is caused by an infestation of the skin by the human itch mite (Sarcoptes scabiei var. hominis). The adult female scabies mites burrow into the upper layer of the skin (epidermis) where they live and deposit their eggs. The microscopic scabies mite almost always is passed by direct, prolonged, skin-to-skin contact with a person who already is infested. An infested person can spread scabies even if he or she has no symptoms. Humans are the source of infestation; animals do not spread human scabies. Persons At Risk Scabies can be passed easily by an infested person to his or her household members and sexual partners. Scabies in adults frequently is sexually acquired. Scabies is a common condition found worldwide; it affects people of all races and social classes. Scabies can spread easily under crowded conditions where close body and skin contact is common. Institutions such as nursing homes, extended-care facilities, and prisons are often sites of scabies outbreaks. Child care facilities also are a common site of scabies infestations. Crusted (Norwegian) Scabies Some immunocompromised, elderly, disabled, or debilitated persons are at risk for a severe form of scabies called crusted, or Norwegian, scabies. Persons with crusted scabies have thick crusts of skin that contain large numbers of scabies mites and eggs. The mites in crusted scabies are not more virulent than in non-crusted scabies; however, they are much more numerous (up to 2 million per patient). Because they are infested with such large numbers of mites, persons with crusted scabies are very contagious to other persons. In addition to spreading scabies through brief direct skin-to-skin contact, persons with crusted scabies can transmit scabies indirectly by shedding mites that contaminate items such as their clothing, bedding, and furniture. Persons with crusted scabies should receive quick and aggressive medical treatment for their infestation to prevent outbreaks of scabies. </s>

<s>[INST] Human: What is (are) Kidney Stones in Adults ? [/INST] Assistant: Four major types of kidney stones can form: - Calcium stones are the most common type of kidney stone and occur in two major forms: calcium oxalate and calcium phosphate. Calcium oxalate stones are more common. Calcium oxalate stone formation may be caused by high calcium and high oxalate excretion. Calcium phosphate stones are caused by the combination of high urine calcium and alkaline urine, meaning the urine has a high pH. - Uric acid stones form when the urine is persistently acidic. A diet rich in purinessubstances found in animal protein such as meats, fish, and shellfishmay increase uric acid in urine. If uric acid becomes concentrated in the urine, it can settle and form a stone by itself or along with calcium. - Struvite stones result from kidney infections. Eliminating infected stones from the urinary tract and staying infection-free can prevent more struvite stones. - Cystine stones result from a genetic disorder that causes cystine to leak through the kidneys and into the urine, forming crystals that tend to accumulate into stones. </s>

<s>[INST] Human: How many people are affected by prolidase deficiency ? [/INST] Assistant: Prolidase deficiency is a rare disorder. Approximately 70 individuals with this disorder have been documented in the medical literature, and researchers have estimated that the condition occurs in approximately 1 in 1 million to 1 in 2 million newborns. It is more common in certain areas in northern Israel, both among members of a religious minority called the Druze and in nearby Arab Moslem populations. </s>

<s>[INST] Human: What are the symptoms of Lujo Hemorrhagic Fever (LUHF) ? [/INST] Assistant: The symptoms of Lujo hemorrhagic fever, as described in the five patients in the original cluster outbreak, resemble those of severe Lassa Fever. After an incubation period of 7 to 13 days, the clinical course started by a non-specific febrile illness accompanied by headache and muscle pain. The disease increases in severity, with: - a morbilliform rash of the face and trunk - face and neck swelling - pharyngitis (sore throat) - diarrhea Bleeding was not a prominent feature during the illness. In the fatal cases (4/5 patients), a transient improvement was followed by: - rapid deterioration with respiratory distress - neurological signs and circulatory collapse Death occurred 10 to 13 days after onset. Low blood platelets, low white blood cell count (at the onset, rising later on) and elevated liver function values were present in all patients. Since Arenaviruses may enter the fetus through infection of the mother, and anectodal evidence suggests that infected pregnant women may suffer miscarriages, it is reasonable to assume that both infection of the fetus and miscarriage may be associated with Lujo infection in the mother. </s>

<s>[INST] Human: What are the symptoms of Chiari malformation ? [/INST] Assistant: What are the signs and symptoms of Chiari malformation? The Human Phenotype Ontology provides the following list of signs and symptoms for Chiari malformation. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Areflexia of upper limbs - Arnold-Chiari type I malformation - Autosomal dominant inheritance - Babinski sign - Basilar impression - Diplopia - Dysarthria - Dysphagia - Gait ataxia - Headache - Hearing impairment - Hyperacusis - Limb muscle weakness - Lower limb hyperreflexia - Lower limb spasticity - Nystagmus - Paresthesia - Photophobia - Scoliosis - Small flat posterior fossa - Syringomyelia - Tinnitus - Unsteady gait - Urinary incontinence - Vertigo - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>

<s>[INST] Human: What are the treatments for Pompe disease ? [/INST] Assistant: These resources address the diagnosis or management of Pompe disease: - Baby's First Test - Gene Review: Gene Review: Glycogen Storage Disease Type II (Pompe Disease) - Genetic Testing Registry: Glycogen storage disease type II, infantile - Genetic Testing Registry: Glycogen storage disease, type II 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 </s>

<s>[INST] Human: What is (are) primary hyperoxaluria ? [/INST] Assistant: Primary hyperoxaluria is a rare condition characterized by recurrent kidney and bladder stones. The condition often results in end stage renal disease (ESRD), which is a life-threatening condition that prevents the kidneys from filtering fluids and waste products from the body effectively. Primary hyperoxaluria results from the overproduction of a substance called oxalate. Oxalate is filtered through the kidneys and excreted as a waste product in urine, leading to abnormally high levels of this substance in urine (hyperoxaluria). During its excretion, oxalate can combine with calcium to form calcium oxalate, a hard compound that is the main component of kidney and bladder stones. Deposits of calcium oxalate can damage the kidneys and other organs and lead to blood in the urine (hematuria), urinary tract infections, kidney damage, ESRD, and injury to other organs. Over time, kidney function decreases such that the kidneys can no longer excrete as much oxalate as they receive. As a result oxalate levels in the blood rise, and the substance gets deposited in tissues throughout the body (systemic oxalosis), particularly in bones and the walls of blood vessels. Oxalosis in bones can cause fractures. There are three types of primary hyperoxaluria that differ in their severity and genetic cause. In primary hyperoxaluria type 1, kidney stones typically begin to appear anytime from childhood to early adulthood, and ESRD can develop at any age. Primary hyperoxaluria type 2 is similar to type 1, but ESRD develops later in life. In primary hyperoxaluria type 3, affected individuals often develop kidney stones in early childhood, but few cases of this type have been described so additional signs and symptoms of this type are unclear. </s>

<s>[INST] Human: What are the symptoms of Spastic paraplegia 5B ? [/INST] Assistant: What are the signs and symptoms of Spastic paraplegia 5B? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia 5B. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Spastic paraplegia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>

<s>[INST] Human: How to prevent Heart Attack ? [/INST] Assistant: Lowering your risk factors for coronary heart disease can help you prevent a heart attack. Even if you already have coronary heart disease, you still can take steps to lower your risk for a heart attack. These steps involve following a heart-healthy lifestyle and getting ongoingmedical care. Heart-Healthy Lifestyle A heart-healthy lifestyle can help prevent a heart attack and includes heart-healthy eating, being physically active, quitting smoking, managing stress, and managing your weight. Ongoing Care Treat Related Conditions Treating conditions that make a heart attack more likely also can help lower your risk for a heart attack. These conditions may include: Diabetes (high blood sugar). If you have diabetes, try to control your blood sugar level through diet and physical activity (as your doctor recommends). If needed, take medicine as prescribed. High blood cholesterol. Your doctor may prescribe a statin medicine to lower your cholesterol if diet and exercise arent enough. High blood pressure. Your doctor may prescribe medicine to keep your blood pressure under control. Have an Emergency Action Plan Make sure that you have an emergency action plan in case you or someone in your family has a heart attack. This is very important if youre at high risk for, or have already had, a heart attack. Write down a list of medicines you are taking, medicines you are allergic to, your health care providers phone numbers (both during and after office hours), and contact information for a friend or relative. Keep the list in a handy place (for example, fill out this wallet card) to share in a medical emergency. Talk with your doctor about the signs and symptoms of a heart attack, when you should call 911, and steps you can take while waiting for medical help to arrive. </s>

<s>[INST] Human: How many people are affected by glycogen storage disease type 0 ? [/INST] Assistant: The prevalence of GSD 0 is unknown; fewer than 10 people with the muscle type and fewer than 30 people with the liver type have been described in the scientific literature. Because some people with muscle GSD 0 die from sudden cardiac arrest early in life before a diagnosis is made and many with liver GSD 0 have mild signs and symptoms, it is thought that GSD 0 may be underdiagnosed. </s>

<s>[INST] Human: What is (are) Kidney Failure: Eat Right to Feel Right on Hemodialysis ? [/INST] Assistant: Before you were on dialysis, your doctor may have told you to follow a low-protein diet. Being on dialysis changes this. Most people on dialysis are encouraged to eat as much high-quality protein as they can. Protein helps you keep muscle and repair tissue. The better nourished you are, the healthier you will be. You will also have greater resistance to infection and recover from surgery more quickly. Your body breaks protein down into a waste product called urea. If urea builds up in your blood, it's a sign you have become very sick. Eating mostly high-quality proteins is important because they produce less waste than others. High-quality proteins come from meat, fish, poultry, and eggs (especially egg whites). Talk With a Dietitian Meat, fish, and chicken are good sources of protein. Talk with a dietitian about the meats you eat. I will eat ______ servings of meat each day. A regular serving size is 3 ounces. This is about the size of the palm of your hand or a deck of cards. Try to choose lean (low-fat) meats that are also low in phosphorus. If you are a vegetarian, ask about other ways to get your protein. Low-fat milk is a good source of protein. But milk is high in phosphorus and potassium. And milk adds to your fluid intake. Talk with a dietitian to see if milk fits into your food plan. I (will) (will not) drink milk. I will drink ______ cup(s) of milk a day. </s>

<s>[INST] Human: What is (are) spinal muscular atrophy with progressive myoclonic epilepsy ? [/INST] Assistant: Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) is a neurological condition that causes muscle weakness and wasting (atrophy) and a combination of seizures and uncontrollable muscle jerks (myoclonic epilepsy). In individuals with SMA-PME, spinal muscular atrophy results from a loss of specialized nerve cells, called motor neurons, in the spinal cord and the part of the brain that is connected to the spinal cord (the brainstem). After a few years of normal development, affected children begin experiencing muscle weakness and atrophy in the lower limbs, causing difficulty walking and frequent falls. The muscles in the upper limbs are later affected, and soon the muscle weakness and atrophy spreads throughout the body. Once weakness reaches the muscles used for breathing and swallowing, it leads to life-threatening breathing problems and increased susceptibility to pneumonia. A few years after the muscle weakness begins, affected individuals start to experience recurrent seizures (epilepsy). Most people with SMA-PME have a variety of seizure types. In addition to myoclonic epilepsy, they may have generalized tonic-clonic seizures (also known as grand mal seizures), which cause muscle rigidity, convulsions, and loss of consciousness. Affected individuals can also have absence seizures, which cause loss of consciousness for a short period that may or may not be accompanied by muscle jerks. In SMA-PME, seizures often increase in frequency over time and are usually not well-controlled with medication. Individuals with SMA-PME may also have episodes of rhythmic shaking (tremors), usually in the hands; these tremors are not thought to be related to epilepsy. Some people with SMA-PME develop hearing loss caused by nerve damage in the inner ear (sensorineural hearing loss). Individuals with SMA-PME have a shortened lifespan; they generally live into late childhood or early adulthood. The cause of death is often respiratory failure or pneumonia. </s>

<s>[INST] Human: What are the symptoms of Peyronie's Disease ? [/INST] Assistant: The signs and symptoms of Peyronies disease may include - hard lumps on one or more sides of the penis - pain during sexual intercourse or during an erection - a curve in the penis either with or without an erection - narrowing or shortening of the penis - ED Symptoms of Peyronies disease range from mild to severe. Symptoms may develop slowly or appear quickly. In many cases, the pain decreases over time, although the curve in the penis may remain. In milder cases, symptoms may go away without causing a permanent curve. </s>

<s>[INST] Human: What is (are) Appendicitis ? [/INST] Assistant: 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 </s>

<s>[INST] Human: What causes Causes of Diabetes ? [/INST] Assistant: Insulin Resistance and Beta Cell Dysfunction Hormones produced by the placenta and other pregnancy-related factors contribute to insulin resistance, which occurs in all women during late pregnancy. Insulin resistance increases the amount of insulin needed to control blood glucose levels. If the pancreas cant produce enough insulin due to beta cell dysfunction, gestational diabetes occurs. As with type 2 diabetes, excess weight is linked to gestational diabetes. Overweight or obese women are at particularly high risk for gestational diabetes because they start pregnancy with a higher need for insulin due to insulin resistance. Excessive weight gain during pregnancy may also increase risk. Family History Having a family history of diabetes is also a risk factor for gestational diabetes, suggesting that genes play a role in its development. Genetics may also explain why the disorder occurs more frequently in African Americans, American Indians, and Hispanics/Latinos. Many gene variants or combinations of variants may increase a womans risk for developing gestational diabetes. Studies have found several gene variants associated with gestational diabetes, but these variants account for only a small fraction of women with gestational diabetes. Future Risk of Type 2 Diabetes Because a womans hormones usually return to normal levels soon after giving birth, gestational diabetes disappears in most women after delivery. However, women who have gestational diabetes are more likely to develop gestational diabetes with future pregnancies and develop type 2 diabetes.3 Women with gestational diabetes should be tested for persistent diabetes 6 to 12 weeks after delivery and at least every 3 years thereafter. Also, exposure to high glucose levels during gestation increases a childs risk for becoming overweight or obese and for developing type 2 diabetes later on. The result may be a cycle of diabetes affecting multiple generations in a family. For both mother and child, maintaining a healthy body weight and being physically active may help prevent type 2 diabetes. </s>

<s>[INST] Human: Is isovaleric acidemia inherited ? [/INST] Assistant: This condition is inherited in an autosomal recessive pattern, which means both copies of the 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. </s>

<s>[INST] Human: What are the treatments for Colpocephaly ? [/INST] Assistant: There is no definitive treatment for colpocephaly. Anticonvulsant medications are often prescribed to prevent seizures, and doctors rely on exercise therapies and orthopedic appliances to reduce shrinkage or shortening of muscles. </s>

<s>[INST] Human: What are the genetic changes related to Kallmann syndrome ? [/INST] Assistant: Mutations in the ANOS1, FGFR1, PROKR2, and PROK2 genes cause Kallmann syndrome. ANOS1 gene mutations are responsible for Kallmann syndrome 1. Kallmann syndrome 2 results from mutations in the FGFR1 gene. Mutations in the PROKR2 and PROK2 genes cause Kallmann syndrome types 3 and 4, respectively. The genes associated with Kallmann syndrome play a role in the development of certain areas of the brain before birth. Although some of their specific functions are unclear, these genes appear to be involved in the formation and movement (migration) of a group of nerve cells that are specialized to process smells (olfactory neurons). These nerve cells come together into a bundle called the olfactory bulb, which is critical for the perception of odors. The ANOS1, FGFR1, PROKR2, and PROK2 genes also play a role in the migration of neurons that produce a hormone called gonadotropin-releasing hormone (GnRH). GnRH controls the production of several other hormones that direct sexual development before birth and during puberty. These hormones are important for the normal function of the gonads (ovaries in women and testes in men). Studies suggest that mutations in the ANOS1, FGFR1, PROKR2, or PROK2 gene disrupt the migration of olfactory nerve cells and GnRH-producing nerve cells in the developing brain. If olfactory nerve cells do not extend to the olfactory bulb, a person's sense of smell will be impaired or absent. Misplacement of GnRH-producing neurons prevents the production of certain sex hormones, which interferes with normal sexual development and causes the characteristic features of hypogonadotropic hypogonadism. It is unclear how gene mutations lead to the other possible signs and symptoms of Kallmann syndrome. Because the features of this condition vary among individuals, researchers suspect that additional genetic and environmental factors may be involved. Together, mutations in the ANOS1, FGFR1, PROKR2, and PROK2 genes account for 25 percent to 30 percent of all cases of Kallmann syndrome. In cases without an identified mutation in one of these genes, the cause of the condition is unknown. Researchers are looking for other genes that can cause this disorder. </s>

<s>[INST] Human: What is (are) Colorectal Cancer ? [/INST] Assistant: Yes. In July 2008, the U.S. Preventive Services Task Force made its strongest ever recommendation for colorectal cancer screening: it suggested that all adults between ages 50 and 75 get screened, or tested, for the disease. The task force noted that various screening tests are available, making it possible for patients and their clinicians to decide which test is best for each person. </s>

<s>[INST] Human: How many people are affected by Urinary Incontinence in Children ? [/INST] Assistant: By 5 years of age, more than 90 percent of children can control urination during the day. Nighttime wetting is more common than daytime wetting in children, affecting 30 percent of 4-year-olds. The condition resolves itself in about 15 percent of children each year; about 10 percent of 7-year-olds, 3 percent of 12-year-olds, and 1 percent of 18-year-olds continue to experience nighttime wetting.1 </s>

<s>[INST] Human: How many people are affected by hypomagnesemia with secondary hypocalcemia ? [/INST] Assistant: Hypomagnesemia with secondary hypocalcemia is thought to be a rare condition, but its prevalence is unknown. </s>

<s>[INST] Human: How to prevent What I need to know about Cirrhosis ? [/INST] Assistant: To prevent cirrhosis, - see your doctor for treatment of your liver disease. Many of the causes of cirrhosis are treatable. Early treatment may prevent cirrhosis. - try to keep your weight in the normal range. Being overweight can make several liver diseases worse. - do not drink any alcohol. Alcohol can harm liver cells. Drinking large amounts of alcohol over many years is one of the major causes of cirrhosis. - do not use illegal drugs, which can increase your chances of getting hepatitis B or hepatitis C. - see your doctor if you have hepatitis. Treatments for hepatitis B, C, and D are available. If you are on treatment, carefully follow your treatment directions. - if you have autoimmune hepatitis, take your medicines and have regular checkups as recommended by your doctor or a liver specialist. </s>

<s>[INST] Human: What is (are) Idiopathic Pulmonary Fibrosis ? [/INST] Assistant: Pulmonary fibrosis (PULL-mun-ary fi-BRO-sis) is a disease in which tissue deep in your lungs becomes thick and stiff, or scarred, over time. The formation of scar tissue is called fibrosis. As the lung tissue thickens, your lungs can't properly move oxygen into your bloodstream. As a result, your brain and other organs don't get the oxygen they need. (For more information, go to the "How the Lungs Work" section of this article.) Sometimes doctors can find out what's causing fibrosis. But in most cases, they can't find a cause. They call these cases idiopathic (id-ee-o-PATH-ick) pulmonary fibrosis (IPF). IPF is a serious disease that usually affects middle-aged and older adults. IPF varies from person to person. In some people, fibrosis happens quickly. In others, the process is much slower. In some people, the disease stays the same for years. IPF has no cure yet. Many people live only about 3 to 5 years after diagnosis. The most common cause of death related to IPF is respiratory failure. Other causes of death include pulmonary hypertension (HI-per-TEN-shun), heart failure, pulmonary embolism (EM-bo-lizm), pneumonia (nu-MO-ne-ah), and lung cancer. Genetics may play a role in causing IPF. If more than one member of your family has IPF, the disease is called familial IPF. Research has helped doctors learn more about IPF. As a result, they can more quickly diagnose the disease now than in the past. Also, researchers are studying several medicines that may slow the progress of IPF. These efforts may improve the lifespan and quality of life for people who have the disease. </s>

<s>[INST] Human: What is (are) Smallpox ? [/INST] Assistant: Smallpox is a disease caused by the Variola major virus. Some experts say that over the centuries it has killed more people than all other infectious diseases combined. Worldwide immunization stopped the spread of smallpox three decades ago. The last case was reported in 1977. Two research labs still keep small amounts of the virus. Experts fear bioterrorists could use the virus to spread disease. Smallpox spreads very easily from person to person. Symptoms are flu-like. They include - High fever - Fatigue - Headache - Backache - A rash with flat red sores There is no treatment. Fluids and medicines for pain or fever can help control symptoms. Most people recover, but some can die. Those who do recover may have severe scars. The U.S. stopped routine smallpox vaccinations in 1972. Military and other high-risk groups continue to get the vaccine. The U.S. has increased its supply of the vaccine in recent years. The vaccine makes some people sick, so doctors save it for those at highest risk of disease. NIH: National Institute of Allergy and Infectious Diseases </s>

<s>[INST] Human: What are the genetic changes related to cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy ? [/INST] Assistant: 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. </s>

<s>[INST] Human: How to diagnose Camurati-Engelmann disease ? [/INST] Assistant: How is Camurati-Engelmann disease diagnosed? Diagnosis of Camurati-Engelmann disease is based on physical examination and radiographic findings and can be confirmed by molecular genetic testing. TGFB1 is the only gene known to be associated with Camurati-Engelmann disease. Sequence analysis identifies mutations in TGFB1 in about 90% of affected individuals and is clinically available. Individuals with a family history of Camurati-Engelmann disease or symptoms associated with this condition may wish to consult with a genetics professional. Visit the Genetic Resources section to learn how you can locate a genetics professional in your community. </s>

<s>[INST] Human: Is Parkinson disease inherited ? [/INST] Assistant: Is Parkinson disease inherited? Most cases of Parkinson disease are classified as sporadic and occur in people with no apparent history of the disorder in their family. Although the cause of these cases remains unclear, sporadic cases probably result from a complex interaction of environmental and genetic factors. Additionally, certain drugs may cause Parkinson-like symptoms. Approximately 15 percent of people with Parkinson disease have a family history of the disorder. These familial cases are caused by mutations in the LRRK2, PARK2, PARK7, PINK1, or SNCA gene, or by alterations in genes that have not yet been identified. Mutations in some of these genes may also play a role in cases that appear to be sporadic. It is not fully understood how mutations in the LRRK2, PARK2, PARK7, PINK1, or SNCA gene cause Parkinson disease. Some mutations appear to disturb the cell machinery that breaks down (degrades) unwanted proteins. As a result, un-degraded proteins accumulate, leading to the impairment or death of dopamine-producing neurons. Other mutations may involve mitochondria, the energy-producing structures within cells. As a byproduct of energy production, mitochondria make unstable molecules, called free radicals, that can damage the cell. Normally, the cell neutralizes free radicals, but some gene mutations may disrupt this neutralization process. As a result, free radicals may accumulate and impair or kill dopamine-producing neurons. In some families, alterations in the GBA, SNCAIP, or UCHL1 gene appear to modify the risk of developing Parkinson disease. Researchers have identified some genetic changes that may reduce the risk of developing the disease, while other gene alterations seem to increase the risk. </s>