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<s>[INST] Human: Is sitosterolemia 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 genetic changes related to autoimmune polyglandular syndrome, type 1 ? [/INST] Assistant: Mutations in the AIRE gene cause autoimmune polyglandular syndrome, type 1. The AIRE gene provides instructions for making a protein called the autoimmune regulator. As its name suggests, this protein plays a critical role in regulating certain aspects of immune system function. Specifically, it helps the body distinguish its own proteins and cells from those of foreign invaders (such as bacteria and viruses). This distinction is critical because to remain healthy, a person's immune system must be able to identify and destroy potentially harmful invaders while sparing the body's normal tissues. Mutations in the AIRE gene reduce or eliminate the function of the autoimmune regulator protein. Without enough of this protein, the immune system can turn against itself and attack the body's own organs. This reaction, which is known as autoimmunity, results in inflammation and can damage otherwise healthy cells and tissues. Damage to the adrenal glands, parathyroid glands, and other organs underlies many of the major features of autoimmune polyglandular syndrome, type 1. It remains unclear why people with this condition tend to get candidiasis infections. Although most of the characteristic features of autoimmune polyglandular syndrome, type 1 result from mutations in the AIRE gene, researchers believe that variations in other genes may help explain why the signs and symptoms of this condition can vary among affected individuals. </s>

<s>[INST] Human: What is the outlook for Refsum Disease ? [/INST] Assistant: ARD is treatable because phytanic acid is not produced by the body, but is only found in foods. With treatment, muscle weakness, numbness, and dry and scaly skin generally disappear. However, vision and hearing problems may persist and the sense of smell may not return. Untreated, ARD can lead to sudden death caused by heartbeat abnormalities. </s>

<s>[INST] Human: Is Zellweger spectrum disorder 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 is the outlook for Cerebral Arteriosclerosis ? [/INST] Assistant: Cerebral arteriosclerosis can lead to life threatening health events such as ischemic or hemorrhagic strokes. People who survive stroke may have long-term neurological and motor impairments. </s>

<s>[INST] Human: What is (are) Hanhart syndrome ? [/INST] Assistant: Hanhart syndrome is a rare condition that primarily affects the craniofacial region and the limbs (arms and legs). People affected by this condition are often born with a short, incompletely developed tongue; absent or partially missing fingers and/or toes; abnormalities of the arms and/or legs; and an extremely small jaw. The severity of these physical abnormalities varies greatly among affected people, and children with this condition often have some, but not all, of the symptoms. The cause of Hanhart syndrome is not fully understood. Treatment depends on the signs and symptoms present in each person. </s>

<s>[INST] Human: What is (are) type 1 diabetes ? [/INST] Assistant: Type 1 diabetes is a disorder characterized by abnormally high blood sugar levels. In this form of diabetes, specialized cells in the pancreas called beta cells stop producing insulin. Insulin controls how much glucose (a type of sugar) is passed from the blood into cells for conversion to energy. Lack of insulin results in the inability to use glucose for energy or to control the amount of sugar in the blood. Type 1 diabetes can occur at any age; however, it usually develops by early adulthood, most often starting in adolescence. The first signs and symptoms of the disorder are caused by high blood sugar and may include frequent urination (polyuria), excessive thirst (polydipsia), fatigue, blurred vision, tingling or loss of feeling in the hands and feet, and weight loss. These symptoms may recur during the course of the disorder if blood sugar is not well controlled by insulin replacement therapy. Improper control can also cause blood sugar levels to become too low (hypoglycemia). This may occur when the body's needs change, such as during exercise or if eating is delayed. Hypoglycemia can cause headache, dizziness, hunger, shaking, sweating, weakness, and agitation. Uncontrolled type 1 diabetes can lead to a life-threatening complication called diabetic ketoacidosis. Without insulin, cells cannot take in glucose. A lack of glucose in cells prompts the liver to try to compensate by releasing more glucose into the blood, and blood sugar can become extremely high. The cells, unable to use the glucose in the blood for energy, respond by using fats instead. Breaking down fats to obtain energy produces waste products called ketones, which can build up to toxic levels in people with type 1 diabetes, resulting in diabetic ketoacidosis. Affected individuals may begin breathing rapidly; develop a fruity odor in the breath; and experience nausea, vomiting, facial flushing, stomach pain, and dryness of the mouth (xerostomia). In severe cases, diabetic ketoacidosis can lead to coma and death. Over many years, the chronic high blood sugar associated with diabetes may cause damage to blood vessels and nerves, leading to complications affecting many organs and tissues. The retina, which is the light-sensitive tissue at the back of the eye, can be damaged (diabetic retinopathy), leading to vision loss and eventual blindness. Kidney damage (diabetic nephropathy) may also occur and can lead to kidney failure and end-stage renal disease (ESRD). Pain, tingling, and loss of normal sensation (diabetic neuropathy) often occur, especially in the feet. Impaired circulation and absence of the normal sensations that prompt reaction to injury can result in permanent damage to the feet; in severe cases, the damage can lead to amputation. People with type 1 diabetes are also at increased risk of heart attacks, strokes, and problems with urinary and sexual function. </s>

<s>[INST] Human: How to prevent Chapare Hemorrhagic Fever (CHHF) ? [/INST] Assistant: Although rodent control would be desirable, it will not be a successful strategy for preventing Chapare hemorrhagic fever cases caused by exposures outdoors. As for other hemorrhagic fevers, full barrier nursing procedures should be implemented during management of suspected or confirmed CHHF cases. </s>

<s>[INST] Human: what research (or clinical trials) is being done for Porencephaly ? [/INST] Assistant: The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research related to porencephaly in laboratories at the NIH and also support additional research through grants to major medical institutions across the country. Much of this research explores the complex mechanisms of normal brain development. The knowledge gained from these fundamental studies will provide a foundation for developing ways to prevent porecephaly and the other cephalic disorders. </s>

<s>[INST] Human: What are the treatments for congenital sucrase-isomaltase deficiency ? [/INST] Assistant: These resources address the diagnosis or management of congenital sucrase-isomaltase deficiency: - Genetic Testing Registry: Sucrase-isomaltase deficiency - MedlinePlus Encyclopedia: Abdominal bloating - MedlinePlus Encyclopedia: Inborn errors of metabolism - MedlinePlus Encyclopedia: Malabsorption 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 symptoms of Cone dystrophy ? [/INST] Assistant: What are the signs and symptoms of Cone dystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Cone dystrophy. 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 electroretinogram 90% Abnormality of color vision 90% Abnormality of retinal pigmentation 90% Photophobia 90% Visual impairment 90% 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 Retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma ? [/INST] Assistant: What are the signs and symptoms of Retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma. 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 electroretinogram 90% Abnormality of retinal pigmentation 90% Aplasia/Hypoplasia affecting the eye 90% Myopia 90% Optic atrophy 90% Visual impairment 90% Nystagmus 7.5% Abnormality of metabolism/homeostasis - Autosomal recessive inheritance - Cystoid macular degeneration - Glaucoma - Macular atrophy - Microphthalmia - Nyctalopia - Pigmentary retinal degeneration - Retinal degeneration - Slitlike anterior chamber angles in children - 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) X-linked Charcot-Marie-Tooth disease type 5 ? [/INST] Assistant: X-linked Charcot-Marie-Tooth disease type 5 (CMTX5) is a neurological condition characterized by peripheral neuropathy, early-onset bilateral profound sensorineural hearing loss, and optic neuropathy leading to visual impairment. Peripheral neuropathy often begins with the lower extremities during childhood with foot drop and difficulty walking. Symptoms in the upper extremities are generally less severe and develop later. Intellect and life span are normal. CMTX5 is caused by a mutation in the PRPS1 gene. The condition is inherited in an X-linked recessive manner. In rare cases, female carriers may exhibit mild symptoms. Standard guidelines for treatment of peripheral neuropathy, hearing loss and vision impairment should be followed. </s>

<s>[INST] Human: what research (or clinical trials) is being done for Aphasia ? [/INST] Assistant: The National Institute of Neurological Disorders and Stroke and the National Institute on Deafness and Other Communication Disorders conduct and support a broad range of scientific investigations to increase our understanding of aphasia, find better treatments, and discover improved methods to restore lost function to people who have aphasia. </s>

<s>[INST] Human: What are the treatments for Eisenmenger syndrome ? [/INST] Assistant: How might Eisenmenger syndrome be treated? Older children with symptoms of Eisenmenger syndrome may have blood removed from the body (phlebotomy) to reduce the number of red blood cells, and then receive fluids to replace the lost blood (volume replacement). Children may receive oxygen, although it is unclear whether it helps to prevent the disease from getting worse. Children with very severe symptoms may need a heart-lung transplant. Adult patients with Eisenmenger syndrome should be seen by a cardiologist specializing in the care of adults with congenital heart disease. </s>

<s>[INST] Human: What are the treatments for Tay-Sachs Disease ? [/INST] Assistant: Presently there is no specific treatment for Tay-Sachs disease. Anticonvulsant medicine may initially control seizures. Other supportive treatment includes proper nutrition and hydration and techniques to keep the airway open. Children may eventually need a feeding tube. </s>

<s>[INST] Human: What is (are) Amyloidosis and Kidney Disease ? [/INST] Assistant: You and your doctor will work together to choose a treatment that's best for you. The publications of the NIDDK Kidney Failure Series can help you learn about the specific issues you will face. Booklets - What I need to know about Kidney Failure and How its Treated - Treatment Methods for Kidney Failure: Hemodialysis - Treatment Methods for Kidney Failure: Peritoneal Dialysis - Treatment Methods for Kidney Failure: Kidney Transplantation - Kidney Failure: Eat Right to Feel Right on Hemodialysis Fact Sheets - Kidney Failure: What to Expect - Vascular Access for Hemodialysis - Hemodialysis Dose and Adequacy - Peritoneal Dialysis Dose and Adequacy - Amyloidosis and Kidney Disease - Anemia in Chronic Kidney Disease - Chronic Kidney Disease-Mineral and Bone Disorder - Financial Help for Treatment of Kidney Failure Learning as much as you can about your treatment will help make you an important member of your health care team. This content is provided as a service of the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), part of the National Institutes of Health. The NIDDK translates and disseminates research findings through its clearinghouses and education programs to increase knowledge and understanding about health and disease among patients, health professionals, and the public. Content produced by the NIDDK is carefully reviewed by NIDDK scientists and other experts. The NIDDK would like to thank: Glenn Chertow, M.D., University of California at San Francisco; William J. Stone, M.D., Vanderbilt University; Morie A. Gertz, M.D., Mayo Clinic This information is not copyrighted. The NIDDK encourages people to share this content freely. September 2014 </s>

<s>[INST] Human: What is (are) trisomy 18 ? [/INST] Assistant: Trisomy 18, also called Edwards syndrome, is a chromosomal condition associated with abnormalities in many parts of the body. Individuals with trisomy 18 often have slow growth before birth (intrauterine growth retardation) and a low birth weight. Affected individuals may have heart defects and abnormalities of other organs that develop before birth. Other features of trisomy 18 include a small, abnormally shaped head; a small jaw and mouth; and clenched fists with overlapping fingers. Due to the presence of several life-threatening medical problems, many individuals with trisomy 18 die before birth or within their first month. Five to 10 percent of children with this condition live past their first year, and these children often have severe intellectual disability. </s>

<s>[INST] Human: What is (are) Digestive Diseases ? [/INST] Assistant: When you eat, your body breaks food down to a form it can use to build and nourish cells and provide energy. This process is called digestion. Your digestive system is a series of hollow organs joined in a long, twisting tube. It runs from your mouth to your anus and includes your esophagus, stomach, and small and large intestines. Your liver, gallbladder and pancreas are also involved. They produce juices to help digestion. There are many types of digestive disorders. The symptoms vary widely depending on the problem. In general, you should see your doctor if you have - Blood in your stool - Changes in bowel habits - Severe abdominal pain - Unintentional weight loss - Heartburn not relieved by antacids NIH: National Institute of Diabetes and Digestive and Kidney Diseases </s>

<s>[INST] Human: How many people are affected by Anxiety Disorders ? [/INST] Assistant: Studies estimate that anxiety disorders affect around 15 percent of older adults in a given year. More women than men experience anxiety disorders. They tend to be less common among older adults than younger adults. But developing an anxiety disorder late in life is not a normal part of aging. </s>

<s>[INST] Human: How many people are affected by fragile X-associated primary ovarian insufficiency ? [/INST] Assistant: An estimated 1 in 200 females has the genetic change that leads to FXPOI, although only about a quarter of them develop the condition. FXPOI accounts for about 4 to 6 percent of all cases of primary ovarian insufficiency in women. </s>

<s>[INST] Human: What are the treatments for Ataxia ? [/INST] Assistant: There is no cure for the hereditary ataxias. If the ataxia is caused by another condition, that underlying condition is treated first. For example, ataxia caused by a metabolic disorder may be treated with medications and a controlled diet. Vitamin deficiency is treated with vitamin therapy. A variety of drugs may be used to either effectively prevent symptoms or reduce the frequency with which they occur. Physical therapy can strengthen muscles, while special devices or appliances can assist in walking and other activities of daily life. </s>

<s>[INST] Human: What is (are) Fetal hydantoin syndrome ? [/INST] Assistant: Fetal hydantoin syndrome is a disorder that is caused by exposure of a fetus to phenytoin, a drug commonly prescribed for epilepsy. Not all infants exposed to phenytoin will be affected with the disorder. Symptoms in affected individuals may include abnormalities of the skull and facial features, growth deficiencies, underdeveloped nails of the fingers and toes, and/or mild developmental delays. Other findings occasionally associated with this syndrome include cleft lip and palate, having an abnormally small head (microcephaly) and brain malformations with more significant developmental delays. Treatment may include surgery for cleft lip and palate and special education and related services for children with learning delays. Other treatment is symptomatic and supportive. </s>

<s>[INST] Human: How many people are affected by Stevens-Johnson syndrome/toxic epidermal necrolysis ? [/INST] Assistant: SJS/TEN is a rare disease, affecting 1 to 2 per million people each year. Stevens-Johnson syndrome (the less severe form of the condition) is more common than toxic epidermal necrolysis. People who are HIV-positive and those with a chronic inflammatory disease called systemic lupus erythematosus are more likely to develop SJS/TEN than the general population. The reason for the increased risk is unclear, but immune system factors and exposure to multiple medications may play a role. </s>

<s>[INST] Human: What are the treatments for Kaposi Sarcoma ? [/INST] Assistant: Key Points - There are different types of treatment for patients with Kaposi sarcoma. - Treatment of epidemic Kaposi sarcoma combines treatment for Kaposi sarcoma with treatment for AIDS. - Four types of standard treatment are used to treat Kaposi sarcoma: - Radiation therapy - Surgery - Chemotherapy - Biologic therapy - New types of treatment are being tested in clinical trials. - Targeted therapy - Treatment for Kaposi sarcoma may cause side effects. - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed. There are different types of treatment for patients with Kaposi sarcoma. Different types of treatments are available for patients with Kaposi sarcoma. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Patients may want to think about taking part in a clinical trial. Some clinical trials are open only to patients who have not started treatment. Treatment of epidemic Kaposi sarcoma combines treatment for Kaposi sarcoma with treatment for AIDS. For the treatment of epidemic Kaposi sarcoma, combined antiretroviral therapy (cART) is used to slow the progression of AIDS. cART may be combined with anticancer drugs and medicines that prevent and treat infections. Four types of standard treatment are used to treat Kaposi sarcoma: Radiation therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy: - External radiation therapy uses a machine outside the body to send radiation toward the cancer. - Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. The way the radiation therapy is given depends on the type of the cancer being treated. Certain types of external radiation therapy are used to treat Kaposi sarcoma lesions. Photon radiation therapy treats lesions with high-energy light. Electron beam radiation therapy uses tiny negatively charged particles called electrons. Surgery The following surgical procedures may be used for Kaposi sarcoma to treat small, surface lesions: - Local excision: The cancer is cut from the skin along with a small amount of normal tissue around it. - Electrodesiccation and curettage: The tumor is cut from the skin with a curette (a sharp, spoon-shaped tool). A needle-shaped electrode is then used to treat the area with an electric current that stops the bleeding and destroys cancer cells that remain around the edge of the wound. The process may be repeated one to three times during the surgery to remove all of the cancer. - Cryosurgery: A treatment that uses an instrument to freeze and destroy abnormal tissue. This type of treatment is also called cryotherapy. Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid, an organ, tissue, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). In electrochemotherapy, intravenous chemotherapy is given and a probe is used to send electric pulses to the tumor. The pulses make an opening in the membrane around the tumor cell and allow the chemotherapy to get inside. Electrochemotherapy is being studied in the treatment of Kaposi sarcoma. The way the chemotherapy is given depends on where the Kaposi sarcoma lesions occur in the body. In Kaposi sarcoma, chemotherapy may be given in the following ways: - For local Kaposi sarcoma lesions, such as in the mouth, anticancer drugs may be injected directly into the lesion (intralesional chemotherapy). - For local lesions on the skin, a topical agent may be applied to the skin as a gel. Electrochemotherapy may also be used. - For widespread lesions on the skin, intravenous chemotherapy may be given. Liposomal chemotherapy uses liposomes (very tiny fat particles) to carry anticancer drugs. Liposomal doxorubicin is used to treat Kaposi sarcoma. The liposomes build up in Kaposi sarcoma tissue more than in healthy tissue, and the doxorubicin is released slowly. This increases the effect of the doxorubicin and causes less damage to healthy tissue. See Drugs Approved for Kaposi Sarcoma for more information. Biologic therapy Biologic therapy is a treatment that uses the patient's immune system to fight cancer. Substances made by the body or made in a laboratory are used to boost, direct, or restore the body's natural defenses against cancer. This type of cancer treatment is also called biotherapy or immunotherapy. Interferon alfa is a biologic agent used to treat Kaposi sarcoma. See Drugs Approved for Kaposi Sarcoma for more information. Treatment for Kaposi sarcoma may cause side effects. For information about side effects caused by treatment for cancer, see our Side Effects page. New types of treatment are being tested in clinical trials. This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. Targeted therapy Targeted therapy is a type of treatment that uses drugs or other substances to identify and attack specific cancer cells without harming normal cells. Monoclonal antibody therapy and tyrosine kinase inhibitors (TKIs) are types of targeted therapy being studied in the treatment of Kaposi sarcoma. Monoclonal antibody therapy is a cancer treatment that uses antibodies made in the laboratory from a single type of immune system cell. These antibodies can identify substances on cancer cells or normal substances that may help cancer cells grow. The antibodies attach to the substances and kill the cancer cells, block their growth, or keep them from spreading. Monoclonal antibodies are given by infusion. These may be used alone or to carry drugs, toxins, or radioactive material directly to cancer cells. Bevacizumab is a monoclonal antibody that is being studied in the treatment of Kaposi sarcoma. TKIs are targeted therapy drugs that block signals needed for tumors to grow. Imatinib mesylate is a TKI being studied in the treatment of Kaposi sarcoma. Patients may want to think about taking part in a clinical trial. For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. Patients can enter clinical trials before, during, or after starting their cancer treatment. Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials. Follow-up tests may be needed. Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups. Treatment Options for Kaposi Sarcoma Classic Kaposi Sarcoma Treatment for single lesions may include the following: - Radiation therapy. - Surgery. Treatment for lesions all over the body may include the following: - Radiation therapy. - Chemotherapy. - A clinical trial of electrochemotherapy. Treatment for Kaposi sarcoma that affects lymph nodes or the gastrointestinal tract usually includes chemotherapy with or without radiation therapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with classic Kaposi sarcoma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. Immunosuppressive Therapyrelated Kaposi Sarcoma Treatment for immunosuppressive therapyrelated Kaposi sarcoma may include the following: - Stopping or reducing immunosuppressive drug therapy. - Radiation therapy. - Chemotherapy using one or more anticancer drugs. Check the list of NCI-supported cancer clinical trials that are now accepting patients with immunosuppressive treatment related Kaposi sarcoma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. Epidemic Kaposi Sarcoma Treatment for epidemic Kaposi sarcoma may include the following: - Surgery, including local excision or electrodesiccation and curettage. - Cryosurgery. - Radiation therapy. - Chemotherapy using one or more anticancer drugs. - Biologic therapy. - A clinical trial of new drug therapy, biologic therapy, or targeted therapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with AIDS-related Kaposi sarcoma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. Recurrent Kaposi Sarcoma Treatment for recurrent Kaposi sarcoma depends on which type of Kaposi sarcoma the patient has. Treatment may include a clinical trial of a new therapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with recurrent Kaposi sarcoma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. </s>

<s>[INST] Human: Is Marfan syndrome inherited ? [/INST] Assistant: How is Marfan syndrome inherited? Marfan syndrome is inherited in an autosomal dominant manner. All individuals inherit 2 copies of each gene. In autosomal dominant conditions, an individual only has to have 1 mutation in the gene to develop the condition. The mutation can be inherited from a parent, or can happen by chance for the first time in an individual. Each child of an individual with Marfan syndrome has a 50% chance of inheriting the mutation and the disorder. Offspring who inherit the mutation will have Marfan syndrome, although they could be more or less severely affected than their parent. </s>

<s>[INST] Human: How to diagnose 17q23.1q23.2 microdeletion syndrome ? [/INST] Assistant: How is 17q23.1q23.2 microdeletion syndrome diagnosed? The deletion can be identified by comparative genomic hybridization (CGH) microarray and fluorescence in situ hybridization (FISH). </s>

<s>[INST] Human: What are the symptoms of 46,XX testicular disorder of sex development ? [/INST] Assistant: What are the signs and symptoms of 46,XX testicular disorder of sex development? The Human Phenotype Ontology provides the following list of signs and symptoms for 46,XX testicular disorder of sex development. 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 testis 90% Polycystic ovaries 90% Ovotestis 5% Autosomal dominant inheritance - Azoospermia - Bifid scrotum - Decreased serum testosterone level - Hypoplasia of the uterus - Hypoplasia of the vagina - Micropenis - Perineal hypospadias - Scrotal hypoplasia - True hermaphroditism - 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 research (or clinical trials) is being done for Klver-Bucy Syndrome ? [/INST] Assistant: NINDS supports and conducts research on neurobehavioral disorders such as Klver-Bucy syndrome. Much of the research focuses on learning more about these disorders and finding ways to prevent and treat them. </s>

<s>[INST] Human: What are the treatments for Celiac Disease ? [/INST] Assistant: Most people with celiac disease have a significant improvement in symptoms when they follow a gluten-free diet. Health care providers typically refer people to a dietitian who specializes in treating people with the disease. The dietitian will teach the person to avoid gluten while following a healthy and nutritious diet. The dietitian will give the person instructions for how to - read food and product labels and identify ingredients that contain gluten - make healthy choices about the types of foods to eat - design everyday meal plans For most people, following a gluten-free diet will stop symptoms, heal existing intestinal damage, and prevent further damage. Symptoms may improve within days to weeks of starting the diet. The small intestine usually heals in 3 to 6 months in children. Complete healing can take several years in adults. Once the intestine heals, the villi will absorb nutrients from food into the bloodstream normally. Some people with celiac disease show no improvement after starting a gluten-free diet. The most common reason for poor response to dietary changes is that people are still consuming small amounts of gluten, which can damage the small intestineeven in people without symptoms. Most people start responding to the gluten-free diet once they find and eliminate hidden sources of gluten from their diet. Hidden sources of gluten include additives made with wheat, such as - modified food starch - preservatives - stabilizers Did you know that medications and nonfood products may contain gluten? Medications, supplements, and other products may also contain lecithin, a hidden source of gluten. People with celiac disease should ask a pharmacist about the ingredients in - prescription and over-the-counter medications - vitamins and mineral supplements - herbal and nutritional supplements Other products can be ingested or transferred from a person's hands to his or her mouth. Reading product labels can help people avoid gluten exposure. If a product's label does not list its ingredients, the manufacturer should provide a list upon request. Products that can contain gluten include - lipstick, lip gloss, and lip balm - cosmetics - skin and hair products - toothpaste and mouthwash - glue on stamps and envelopes - children's modeling dough, such as Play-Doh Some people who continue to have symptoms even after changing their diet may have other conditions or disorders that are more common in people with celiac disease. These conditions may include - small intestinal bacterial overgrowth, which happens when too many bacteria grow in the small intestine - pancreatic exocrine insufficiency, in which the pancreas does not produce enough digestive juice - microscopic colitis, an inflammation of the colon that a health care provider can see only with a microscope - IBS - lactose intolerance, a condition in which people have symptoms after consuming milk or milk products - other food intolerances, which may occur because of continued damage to the intestine In some cases, people continue to have difficulty absorbing nutrients despite following a strict gluten-free diet. People with this condition, known as refractory celiac disease, have severely damaged intestines that cannot heal. Their intestines are not absorbing enough nutrients, so they may need to receive nutrients intravenously. Researchers continue to evaluate medications to treat refractory celiac disease. Depending on a person's age at diagnosis, some complications of celiac disease will not improve, such as short stature and dental enamel defects. For people with dermatitis herpetiformis, skin symptoms generally respond to a gluten-free diet and may recur if a person adds gluten back into his or her diet. Medications such as dapsone can control the rash's symptoms. Dapsone does not treat intestinal symptoms or damage, so people with dermatitis herpetiformis should maintain a gluten-free diet, even if they don't have digestive symptoms. Even when a person follows a gluten-free diet, the skin lesions from dermatitis herpetiformis may take months or even years to fully heal and often recur over the years. </s>

<s>[INST] Human: What are the treatments for Huntington's Disease ? [/INST] Assistant: There is no treatment that can stop or reverse the course of HD. Tetrabenazine is prescribed for treating Huntingtons-associated chorea. It is the only drug approved by the U.S. Food and Drug Administration specifically for use against HD. Antipsychotic drugs may help to alleviate chorea and may also be used to help control hallucinations, delusions, and violent outbursts. Drugs may be prescribed to treat depression and anxiety. Drugs used to treat the symptoms of HD may have side effects such as fatigue, sedation, decreased concentration, restlessness, or hyperexcitability, and should be only used when symptoms create problems for the individual. </s>

<s>[INST] Human: How many people are affected by Angelman syndrome ? [/INST] Assistant: Angelman syndrome affects an estimated 1 in 12,000 to 20,000 people. </s>

<s>[INST] Human: What are the treatments for supravalvular aortic stenosis ? [/INST] Assistant: These resources address the diagnosis or management of supravalvular aortic stenosis: - Children's Hospital of Philadelphia - Genetic Testing Registry: Supravalvar aortic stenosis - Monroe Carell Jr. Children's Hospital at Vanderbilt 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 genetic changes related to hystrix-like ichthyosis with deafness ? [/INST] Assistant: HID is caused by mutations in the GJB2 gene. This gene provides instructions for making a protein called gap junction beta 2, more commonly known as connexin 26. Connexin 26 is a member of the connexin protein family. Connexin proteins form channels called gap junctions that permit the transport of nutrients, charged atoms (ions), and signaling molecules between neighboring cells that are in contact with each other. Gap junctions made with connexin 26 transport potassium ions and certain small molecules. Connexin 26 is found in cells throughout the body, including the inner ear and the skin. In the inner ear, channels made from connexin 26 are found in a snail-shaped structure called the cochlea. These channels may help to maintain the proper level of potassium ions required for the conversion of sound waves to electrical nerve impulses. This conversion is essential for normal hearing. In addition, connexin 26 may be involved in the maturation of certain cells in the cochlea. Connexin 26 also plays a role in the growth and maturation of the outermost layer of skin (the epidermis). At least one GJB2 gene mutation has been identified in people with HID. This mutation changes a single protein building block (amino acid) in connexin 26. The mutation is thought to result in channels that constantly leak ions, which impairs the health of the cells and increases cell death. Death of cells in the skin and the inner ear may underlie the signs and symptoms of HID. Because the GJB2 gene mutation identified in people with HID also occurs in keratitis-ichthyosis-deafness syndrome (KID syndrome), a disorder with similar features and the addition of eye abnormalities, many researchers categorize KID syndrome and HID as a single disorder, which they call KID/HID. It is not known why some people with this mutation have eye problems while others do not. </s>

<s>[INST] Human: What are the treatments for Treatment Methods for Kidney Failure: Peritoneal Dialysis ? [/INST] Assistant: Your health care team will perform several tests to tell if your dialysis exchanges are removing enough wastes. These tests are especially important during the first weeks of treatment to determine whether your schedule is adequate. Peritoneal Equilibration Test For a peritoneal equilibration test, a dialysis nurse takes samples of your blood and dialysis solution during a 4-hour exchange. The peritoneal equilibration test measures how much dextrose your body absorbs from a bag of dialysis solution. The peritoneal equilibration test also measures how much urea and creatininewaste products of normal muscle and protein breakdownmove from your blood into the dialysis solution. Clearance Test For a clearance test, you will collect the used dialysis solution from a 24-hour period. A dialysis nurse takes a blood sample during the same 24-hour period. Your doctor or nurse compares the amount of urea in the used solution with the amount in your blood to see how much urea was removed. For the first months or even years of peritoneal dialysis treatment, you may still produce small amounts of urine. If you produce more than 100 milliliters (3 ounces) of urine per day, you will also collect your urine to measure its urea content. From the measurements of used solution, blood, and, if available, urine, your health care team can determine your urea clearancea measurement doctors call your Kt/Vand your creatinine clearance rate. These measurements will show whether you are using the right peritoneal dialysis schedule and doses. If your dialysis schedule is not removing enough wastes, your doctor will make adjustments. More information is provided in the NIDDK health topic, Peritoneal Dialysis Dose and Adequacy. </s>

<s>[INST] Human: What are the symptoms of 2,4-Dienoyl-CoA reductase deficiency ? [/INST] Assistant: What are the signs and symptoms of 2,4-Dienoyl-CoA reductase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for 2,4-Dienoyl-CoA reductase deficiency. 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 - Hyperlysinemia - Neonatal hypotonia - Respiratory acidosis - 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 Neuroblastoma ? [/INST] Assistant: Key Points - There are different types of treatment for patients with neuroblastoma. - Children with neuroblastoma should have their treatment planned by a team of doctors who are experts in treating childhood cancer, especially neuroblastoma. - Children who are treated for neuroblastoma may have late effects, including an increased risk of second cancers. - Seven types of standard treatment are used: - Observation - Surgery - Radiation therapy - Iodine 131-mIBG therapy - Chemotherapy - High-dose chemotherapy and radiation therapy with stem cell rescue - Targeted therapy - New types of treatment are being tested in clinical trials. - Immunotherapy - Other drug therapy - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed. There are different types of treatment for patients with neuroblastoma. Different types of treatment are available for patients with neuroblastoma. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Because cancer in children is rare, taking part in a clinical trial should be considered. Some clinical trials are open only to patients who have not started treatment. Children with neuroblastoma should have their treatment planned by a team of doctors who are experts in treating childhood cancer, especially neuroblastoma. Treatment will be overseen by a pediatric oncologist, a doctor who specializes in treating children with cancer. The pediatric oncologist works with other pediatric health care providers who are experts in treating children with neuroblastoma and who specialize in certain areas of medicine. These may include the following specialists: - Pediatric surgeon. - Pediatric radiation oncologist.. - Endocrinologist. - Neurologist. - Pediatric neuropathologist.. - Neuroradiologist. - Pediatrician. - Pediatric nurse specialist. - Social worker. - Child life professional. - Psychologist. Children who are treated for neuroblastoma may have late effects, including an increased risk of second cancers. Some cancer treatments cause side effects that continue or appear years after cancer treatment has ended. These are called late effects. Late effects of cancer treatment may include: - Physical problems. - Changes in mood, feelings, thinking, learning, or memory. - Second cancers (new types of cancer). Some late effects may be treated or controlled. It is important that parents of children who are treated for neuroblastoma talk with their doctors about the possible late effects caused by some treatments. See the PDQ summary on Late Effects of Treatment for Childhood Cancer for more information. Seven types of standard treatment are used: Observation Observation is closely monitoring a patient's condition without giving any treatment until signs or symptoms appear or change. Surgery Surgery is used to treat neuroblastoma unless it has spread to other parts of the body. Depending on where the tumor is, as much of the tumor as is safely possible will be removed. If the tumor cannot be removed, a biopsy may be done instead. Radiation therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy: - External radiation therapy uses a machine outside the body to send radiation toward the cancer. - Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. The way the radiation therapy is given depends on the type of cancer being treated and the child's risk group. External radiation therapy is used to treat neuroblastoma. Iodine 131-mIBG therapy Iodine 131-mIBG therapy is a treatment with radioactive iodine. The radioactive iodine is given through an intravenous (IV) line and enters the bloodstream which carries radiation directly to tumor cells. Radioactive iodine collects in neuroblastoma cells and kills them with the radiation that is given off. Iodine 131-mIBG therapy is sometimes used to treat high-risk neuroblastoma that comes back after initial treatment. Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). The way the chemotherapy is given depends on the type of cancer being treated and the child's risk group. The use of two or more anticancer drugs is called combination chemotherapy. See Drugs Approved for Neuroblastoma for more information. High-dose chemotherapy and radiation therapy with stem cell rescue High-dose chemotherapy and radiation therapy with stem cell rescue is a way of giving high doses of chemotherapy and radiation therapy and replacing blood -forming cells destroyed by cancer treatment for high-risk neuroblastoma. Stem cells (immature blood cells) are removed from the blood or bone marrow of the patient and are frozen and stored. After chemotherapy and radiation therapy are completed, the stored stem cells are thawed and given back to the patient through an infusion. These reinfused stem cells grow into (and restore) the body's blood cells. Maintenance therapy is given after high-dose chemotherapy and radiation therapy with stem cell rescue to kill any cancer cells that may regrow and cause the disease to come back. Maintenance therapy is given for 6 months and includes the following treatments: - Isotretinoin: A vitamin -like drug that slows the cancer's ability to make more cancer cells and changes how these cells look and act. This drug is taken by mouth. - Dinutuximab: A type of monoclonal antibody therapy that uses an antibody made in the laboratory from a single type of immune system cell. Dinutuximab identifies and attaches to a substance, called GD2, on the surface of neuroblastoma cells. Once dinutuximab attaches to the GD2, a signal is sent to the immune system that a foreign substance has been found and needs to be killed. Then the body's immune system kills the neuroblastoma cell. Dinutuximab is given by infusion. It is a type of targeted therapy. - Granulocyte-macrophage colony-stimulating factor (GM-CSF): A cytokine that helps make more immune system cells, especially granulocytes and macrophages (white blood cells), which can attack and kill cancer cells. - Interleukin-2 (IL-2): A type of immunotherapy that boosts the growth and activity of many immune cells, especially lymphocytes (a type of white blood cell). Lymphocytes can attack and kill cancer cells. See Drugs Approved for Neuroblastoma for more information. Targeted therapy Targeted therapy is a type of treatment that uses drugs or other substances to identify and attack cancer cells with less harm to normal cells. There are different types of targeted therapy: - Tyrosine kinase inhibitors are small-molecule drugs that go through the cell membrane and work inside cancer cells to block signals that cancer cells need to grow and divide. Crizotinib is used to treat neuroblastoma that has come back after treatment. - Antibody-drug conjugates are made up of a monoclonal antibody attached to a drug. The monoclonal antibody binds to specific proteins or receptors found on certain cells, including cancer cells. The drug enters these cells and kills them without harming other cells. Lorvotuzumab mertansine is an antibody-drug conjugate being studied to treat neuroblastoma that has come back after treatment. New types of treatment are being tested in clinical trials. This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. Immunotherapy Immunotherapy is a treatment that uses the patients immune system to fight cancer. Substances made by the body or made in a laboratory are used to boost, direct, or restore the bodys natural defenses against cancer. This type of cancer treatment is also called biotherapy or biological therapy. Vaccine therapy uses a substance to stimulate the immune system to destroy a tumor. Vaccine therapy is being studied to treat neuroblastoma that has come back after treatment. Other drug therapy Lenalidomide is a type of angiogenesis inhibitor. It prevents the growth of new blood vessels that are needed by a tumor to grow. Patients may want to think about taking part in a clinical trial. For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. Patients can enter clinical trials before, during, or after starting their cancer treatment. Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials. Follow-up tests may be needed. Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your child's condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups. Treatment Options for Neuroblastoma Low-Risk Neuroblastoma Treatment of low-risk neuroblastoma may include the following: - Surgery followed by observation. - Chemotherapy with or without surgery, for children with symptoms, children whose tumor has continued to grow and cannot be removed by surgery, or children with unfavorable tumor biology. - Observation alone for infants younger than 6 months who have small adrenal tumors. - Observation alone for infants who do not have signs or symptoms of neuroblastoma. - Radiation therapy to treat tumors that are causing serious problems and do not respond quickly to chemotherapy or surgery. - A clinical trial of treatment based on the tumor's response to treatment and tumor biology. Intermediate-Risk Neuroblastoma Treatment of intermediate-risk neuroblastoma may include the following: - Chemotherapy for children with symptoms or to shrink a tumor that cannot be removed by surgery. Surgery may be done after chemotherapy. - Surgery alone for infants. - Observation alone for certain infants. - Radiation therapy to treat tumors that are causing serious problems and do not respond quickly to chemotherapy or surgery. - Radiation therapy for tumors that do not respond to other treatment. - A clinical trial of treatment based on the tumor's response to treatment and tumor biology. High-Risk Neuroblastoma Treatment of high-risk neuroblastoma may include the following: - A regimen of combination chemotherapy, surgery, stem cell rescue, radiation therapy, and monoclonal antibody therapy (dinutuximab) with interleukin-2 (IL-2), granulocyte-macrophage colony-stimulating factor (GM-CSF), and isotretinoin. Stage 4S Neuroblastoma There is no standard treatment for stage 4S neuroblastoma but treatment options include the following: - Observation with supportive care for certain children who have favorable tumor biology and do not have signs or symptoms. - Chemotherapy, for children who have signs or symptoms of neuroblastoma or unfavorable tumor biology, or for very young infants. - A clinical trial of treatment based on the tumor's response to treatment and tumor biology. Recurrent Neuroblastoma Patients First Treated for Low-Risk Neuroblastoma Treatment for recurrent neuroblastoma that is found only in the area where the cancer first formed may include the following: - Surgery followed by observation or chemotherapy. - Chemotherapy that may be followed by surgery. Treatment for recurrent neuroblastoma that has spread to other parts of the body may include the following: - Observation. - Chemotherapy. - Surgery followed by chemotherapy. - Treatment as for newly diagnosed high-risk neuroblastoma for children older than 1 year. Patients First Treated for Intermediate-Risk Neuroblastoma Treatment for recurrent neuroblastoma that is found only in the area where the cancer first formed may include the following: - Surgery that may be followed by chemotherapy. - Treatment as for newly diagnosed high-risk neuroblastoma for neuroblastoma that has spread to other parts of the body. Recurrent neuroblastoma that has spread to other parts of the body is treated the same way as newly diagnosed high-risk neuroblastoma. Patients First Treated for High-Risk Neuroblastoma Treatment for recurrent neuroblastoma may include the following: - Combination chemotherapy. - Iodine 131-mIBG therapy to relieve symptoms and improve quality of life. It may be given alone or in combination with other therapy, or before stem cell rescue. - A second course of high-dose chemotherapy and stem cell rescue. - Tyrosine kinase inhibitor therapy (crizotinib) for patients with changes in the ALK gene. Because there is no standard treatment for recurrent neuroblastoma in patients first treated for high-risk neuroblastoma, patients may want to consider a clinical trial. For information about clinical trials, please see the NCI website. Patients with Recurrent CNS Neuroblastoma Treatment for neuroblastoma that recurs (comes back) in the central nervous system (CNS; brain and spinal cord) may include the following: - Surgery to remove the tumor in the CNS followed by radiation therapy. - A clinical trial of a new therapy. Treatments Being Studied for Progressive/Recurrent Neuroblastoma Some of the treatments being studied in clinical trials for neuroblastoma that recurs (comes back) or progresses (grows, spreads, or does not respond to treatment) include the following: - Combination chemotherapy and monoclonal antibody therapy (dinutuximab). - Lenalidomide and monoclonal antibody therapy (dinutuximab) with or without isotretinoin. - Iodine 131-mIBG given alone or with other anticancer drugs. - Immunotherapy (vaccine therapy). - Tyrosine kinase inhibitor (crizotinib) and combination chemotherapy. - Targeted therapy with an antibody-drug conjugate (lorvotuzumab mertansine). </s>

<s>[INST] Human: What are the symptoms of Ichthyosis bullosa of Siemens ? [/INST] Assistant: What are the signs and symptoms of Ichthyosis bullosa of Siemens? The Human Phenotype Ontology provides the following list of signs and symptoms for Ichthyosis bullosa of Siemens. 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 blistering of the skin 90% Acantholysis 90% Edema 90% Palmoplantar keratoderma 90% Thin skin 90% Autosomal dominant inheritance - Congenital bullous ichthyosiform erythroderma - 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: Is isolated Pierre Robin sequence inherited ? [/INST] Assistant: Isolated Pierre Robin sequence is usually not inherited. It typically results from new genetic changes and occurs in people with no history of the disorder in their family. When the condition is inherited, it follows an autosomal dominant pattern, which means one copy of the altered DNA in each cell is sufficient to cause the disorder. </s>

<s>[INST] Human: What are the symptoms of Epidermolysis bullosa acquisita ? [/INST] Assistant: What are the signs and symptoms of Epidermolysis bullosa acquisita? Symptoms of epidermolysis bullosa acquisita (EBA) usually occur in a person's 30s or 40s. The signs and symptoms can differ among affected people, and the condition has several distinct forms of onset. For example: Non-inflammatory or mildly inflammatory EBA affecting only trauma-prone skin (the "classic" form) may cause: tense, blood- or pus-filled blisters, mostly on the hands, knees, knuckles, elbows and ankles mucous-membrane blisters that rupture easily healing with significant scarring and small white spots (milia) Generalized inflammatory EBA may cause: widespread blisters that are not localized to trauma-prone sites generalized redness and itching healing with minimal scarring The mucous membrane form of EBA may cause: blisters on various mucous membranes significant scarring and dysfunction The features of the condition may change during the course of the disease or may represent two forms at the same time. The Human Phenotype Ontology provides the following list of signs and symptoms for Epidermolysis bullosa acquisita. 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 blistering of the skin 90% Abnormality of the oral cavity 90% Abnormality of the nail 50% Abdominal pain 7.5% Abnormality of the intestine 7.5% Atypical scarring of skin 7.5% Pruritus 7.5% Thickened skin 7.5% Urticaria 7.5% 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 CODAS syndrome ? [/INST] Assistant: What are the signs and symptoms of CODAS syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for CODAS 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) Abnormal form of the vertebral bodies 90% Abnormality of dental enamel 90% Abnormality of dental morphology 90% Abnormality of epiphysis morphology 90% Abnormality of the metacarpal bones 90% Anteverted nares 90% Brachydactyly syndrome 90% Cataract 90% Cognitive impairment 90% Delayed eruption of teeth 90% Delayed skeletal maturation 90% Depressed nasal bridge 90% Epicanthus 90% Malar flattening 90% Midline defect of the nose 90% Overfolded helix 90% Short nose 90% Short stature 90% Abnormality of the hip bone 50% Joint hypermobility 50% Muscular hypotonia 50% Ptosis 50% Scoliosis 50% Sensorineural hearing impairment 50% Abnormality of the upper urinary tract 7.5% Extrahepatic biliary duct atresia 7.5% Nystagmus 7.5% Strabismus 7.5% Ventricular septal defect 7.5% Vocal cord paresis 7.5% Anal atresia 5% Cryptorchidism 5% Omphalocele 5% Proximal placement of thumb 5% Rectovaginal fistula 5% Seizures 5% Atria septal defect - Atrioventricular canal defect - Autosomal recessive inheritance - Broad skull - Congenital cataract - Congenital hip dislocation - Coronal cleft vertebrae - Delayed ossification of carpal bones - Genu valgum - Hypoplasia of dental enamel - Hypoplasia of the corpus callosum - Hypoplasia of the odontoid process - Metaphyseal dysplasia - Polyhydramnios - Short humerus - Short metacarpal - Short phalanx of finger - Squared iliac bones - 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 the outlook for Agnosia ? [/INST] Assistant: Agnosia can compromise quality of life. </s>

<s>[INST] Human: Is Rheumatic Fever inherited ? [/INST] Assistant: Is rheumatic fever inherited? Rheumatic fever is likely inherited in a multifactorial manner, which means it is caused by multiple genes interacting with each other and with environmental factors. The condition is thought to occur in genetically susceptible children who are infected with group A Streptococcus bacteria and live in poor social conditions. Some studies suggest that differences in the expression of various genes involved in the immune response may contribute to rheumatic fever susceptibility. </s>

<s>[INST] Human: What are the symptoms of Paine syndrome ? [/INST] Assistant: What are the signs and symptoms of Paine syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Paine 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) Generalized myoclonic seizures - Microcephaly - Olivopontocerebellar hypoplasia - Spastic diplegia - 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 symptoms of Chromosome 17q11.2 deletion syndrome ? [/INST] Assistant: What are the signs and symptoms of Chromosome 17q11.2 deletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Chromosome 17q11.2 deletion 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 chromosome segregation 90% Abnormality of dental enamel 50% Alopecia 50% Cognitive impairment 50% Microcephaly 50% Short stature 50% Long foot 46% Intellectual disability 38% Abnormality of the eyelashes 7.5% Abnormality of the nasal alae 7.5% Aplasia/Hypoplasia of the eyebrow 7.5% Deviated nasal septum 7.5% Hypoplasia of the zygomatic bone 7.5% Long face 7.5% Macroorchidism 7.5% Midline defect of the nose 7.5% Neurological speech impairment 7.5% Seizures 7.5% Thin vermilion border 7.5% Axillary freckling 28/29 Cafe-au-lait spot 27/29 Cognitive impairment 27/29 Lisch nodules 27/29 Hypertelorism 25/29 Plexiform neurofibroma 22/29 Subcutaneous neurofibromas 22/29 Joint hypermobility 21/29 Spinal neurofibromas 9/14 Coarse facial features 17/29 Bone cyst 8/16 Delayed speech and language development 14/29 Large hands 13/28 Tall stature 13/28 Focal T2 hyperintense basal ganglia lesion 13/29 Muscular hypotonia 13/29 Specific learning disability 13/29 Scoliosis 12/28 Macrocephaly 9/23 Attention deficit hyperactivity disorder 8/24 Broad neck 9/29 Pectus excavatum 9/29 Abnormality of cardiovascular system morphology 8/28 Facial asymmetry 8/29 Neurofibrosarcoma 6/29 Optic glioma 5/27 Pes cavus 5/29 Low-set ears 4/29 Strabismus 4/29 Hearing impairment 3/29 Seizures 2/29 Autosomal dominant inheritance - Inguinal freckling - Overgrowth - 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 Short stature syndrome, Brussels type ? [/INST] Assistant: What are the signs and symptoms of Short stature syndrome, Brussels type? The Human Phenotype Ontology provides the following list of signs and symptoms for Short stature syndrome, Brussels type. 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 metabolism/homeostasis - Delayed epiphyseal ossification - Horseshoe kidney - Microretrognathia - Narrow chest - Relative macrocephaly - Short stature - Triangular face - 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 many people are affected by immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome ? [/INST] Assistant: IPEX syndrome is a rare disorder; its prevalence is unknown. </s>

<s>[INST] Human: What are the treatments for Dermatomyositis ? [/INST] Assistant: How is dermatomyositis treated? While there is no cure for dermatomyositis, the symptoms can be treated. Options include medication, physical therapy, exercise, heat therapy (including microwave and ultrasound), orthotics and assistive devices, and rest. The standard treatment for dermatomyositis is a corticosteroid drug, given either in pill form or intravenously. Immunosuppressant drugs, such as azathioprine and methotrexate, may reduce inflammation in people who do not respond well to prednisone. Periodic treatment using intravenous immunoglobulin can also improve recovery. Other immunosuppressive agents used to treat the inflammation associated with dermatomyositis include cyclosporine A, cyclophosphamide, and tacrolimus. Physical therapy is usually recommended to prevent muscle atrophy and to regain muscle strength and range of motion. Many individuals with dermatomyositis may need a topical ointment, such as topical corticosteroids, for their skin disorder. They should wear a high-protection sunscreen and protective clothing. Surgery may be required to remove calcium deposits that cause nerve pain and recurrent infections. </s>

<s>[INST] Human: How to diagnose Cone dystrophy ? [/INST] Assistant: How is cone dystrophy diagnosed? The diagnosis of cone dystrophy is made based upon the presence of characteristic symptoms, a detailed family history, a thorough clinical evaluation and a number of supporting tests. While exams that measure visual acuity, perception of color, and field of vision are used to arrive at a proper diagnosis, an electroretinogram (ERG) is used to confirm the diagnosis. During an ERG, eye drops are used to numb the eye before a special contact lens recorder is placed on the eye. Then a series of flashes of light are used to stimulate the retina. Doctors can then measure the electrical response of the rods and cones to the light. The test is performed twice once in bright room and again in a dark room. A weak of absent signal of cone cells indicates cone dystrophy. More details about the diagnosis of cone dystrophy can be accessed through the University of Michigan Kellogg Eye Center. </s>

<s>[INST] Human: What are the treatments for geleophysic dysplasia ? [/INST] Assistant: These resources address the diagnosis or management of geleophysic dysplasia: - Gene Review: Gene Review: Geleophysic Dysplasia - Genetic Testing Registry: Geleophysic dysplasia 2 - MedlinePlus Encyclopedia: Short Stature 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 causes Best vitelliform macular dystrophy ? [/INST] Assistant: What causes Best vitelliform macular dystrophy? Best vitelliform macular dystrophy (BVMD) is caused by changes (mutations) in the BEST1 gene. This gene gives the body instructions for making a protein called bestrophin. Bestrophin acts as a channel that controls the movement of chloride ions within the retina. It is thought that mutations in the BEST1 gene affect the shape of the channel and its ability to properly regulate the flow of chloride. However, it is unclear how exactly this relates to the specific features of BVMD. </s>

<s>[INST] Human: What are the genetic changes related to preeclampsia ? [/INST] Assistant: The specific causes of preeclampsia are not well understood. In pregnancy, blood volume normally increases to support the fetus, and the mother's body must adjust to handle this extra fluid. In some women the body does not react normally to the fluid changes of pregnancy, leading to the problems with high blood pressure and urine production in the kidneys that occur in preeclampsia. The reasons for these abnormal reactions to the changes of pregnancy vary in different women and may differ depending on the stage of the pregnancy at which the condition develops. Studies suggest that preeclampsia is related to a problem with the placenta, the link between the mother's blood supply and the fetus. If there is an insufficient connection between the placenta and the arteries of the uterus, the placenta does not get enough blood. It responds by releasing a variety of substances, including molecules that affect the lining of blood vessels (the vascular endothelium). By mechanisms that are unclear, the reaction of the vascular endothelium appears to increase factors that cause the blood vessels to narrow (constrict), and decrease factors that would cause them to widen (dilate). As a result, the blood vessels constrict abnormally, causing hypertension. These blood vessel abnormalities also affect the kidneys, causing some proteins that are normally absorbed into the blood to be released in the urine instead. Researchers are studying whether variations in genes involved in fluid balance, the functioning of the vascular endothelium, or placental development affect the risk of developing preeclampsia. Many other factors likely also contribute to the risk of developing this complex disorder. These risk factors include a first pregnancy; a pregnancy with twins or higher multiples; obesity; being older than 35 or younger than 20; a history of diabetes, hypertension, or kidney disease; and preeclampsia in a previous pregnancy. Socioeconomic status and ethnicity have also been associated with preeclampsia risk. The incidence of preeclampsia in the United States has increased by 30 percent in recent years, which has been attributed in part to an increase in older mothers and multiple births resulting from the use of assisted reproductive technologies. </s>

<s>[INST] Human: Who is at risk for Primary CNS Lymphoma? ? [/INST] Assistant: Having a weakened immune system may increase the risk of developing primary CNS lymphoma. Anything that increases your chance 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 doesnt mean that you will not get cancer. Talk with your doctor if you think you may be at risk. Primary CNS lymphoma may occur in patients who have acquired immunodeficiency syndrome (AIDS) or other disorders of the immune system or who have had a kidney transplant. For more information about lymphoma in patients with AIDS, see the PDQ summary on AIDS-Related Lymphoma Treatment. </s>

<s>[INST] Human: How many people are affected by fatty acid hydroxylase-associated neurodegeneration ? [/INST] Assistant: FAHN is a rare disorder; only a few dozen cases have been reported. </s>

<s>[INST] Human: What is (are) Pneumococcal Infections ? [/INST] Assistant: Pneumococci are a type of streptococcus bacteria. The bacteria spread through contact with people who are ill or by healthy people who carry the bacteria in the back of their nose. Pneumococcal infections can be mild or severe. The most common types of infections are - Ear infections - Sinus infections - Pneumonia - Sepsis - Meningitis How the diagnosis is made depends upon where the infection is. Your doctor will do a physical exam and health history. Possible tests may include blood, imaging, or lab tests. Treatment is with antibiotics. Vaccines can prevent pneumococcal infections. There are two vaccines. One is for infants and young children. The other is for people at high risk, including those who are over 65 years old, have chronic illnesses or weak immune systems, smoke, have asthma, or live in long-term care facilities. Centers for Disease Control and Prevention </s>

<s>[INST] Human: What are the symptoms of X-linked hypophosphatemia ? [/INST] Assistant: What are the signs and symptoms of X-linked hypophosphatemia? Symptoms of X-linked hypophosphatemia (XLH) usually begin in early childhood, though severity varies case by case. Early signs include skeletal abnormalities such as noticeably bowed or bent legs, short stature, and irregular growth of the skull. Overtime, symptoms may progress to include bone pain, joint pain caused by the calcification of tendons and ligaments, and spontaneous dental abscesses. Some people with XLH may also experience hearing loss, though this is highly variable and appears to be rare. The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked hypophosphatemia. 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 dental enamel 90% Abnormality of the metaphyses 90% Bone pain 90% Genu varum 90% Premature loss of teeth 90% Craniofacial hyperostosis 50% Enthesitis 50% Osteoarthritis 50% Short stature 50% Hearing impairment 7.5% Recurrent fractures 7.5% Abnormality of pelvic girdle bone morphology - Arthralgia - Bowing of the legs - Elevated alkaline phosphatase - Elevated circulating parathyroid hormone (PTH) level - Femoral bowing - Fibular bowing - Flattening of the talar dome - Frontal bossing - Hypomineralization of enamel - Hypophosphatemia - Hypophosphatemic rickets - Metaphyseal irregularity - Osteomalacia - Phenotypic variability - Renal phosphate wasting - Renal tubular dysfunction - Shortening of the talar neck - Spinal canal stenosis - Spinal cord compression - Tibial bowing - Trapezoidal distal femoral condyles - X-linked dominant 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 is (are) Localized scleroderma ? [/INST] Assistant: Localized scleroderma is characterized by thickening of the skin from excessive collagen deposits. Collagen is a protein normally present in our skin that provides structural support. However, when too much collagen is made, the skin becomes stiff and hard. Localized types of scleroderma are those limited to the skin and related tissues and, in some cases, the muscle below. Internal organs are not affected by localized scleroderma, and localized scleroderma can never progress to the systemic form of the disease. Often, localized conditions improve or go away on their own over time, but the skin changes and damage that occur when the disease is active can be permanent. For some people, localized scleroderma is serious and disabling. There are two generally recognized types of localized scleroderma: morphea and linear. </s>

<s>[INST] Human: What are the symptoms of Dystonia 19 ? [/INST] Assistant: What are the signs and symptoms of Dystonia 19? The Human Phenotype Ontology provides the following list of signs and symptoms for Dystonia 19. 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 dominant inheritance - Chorea - Dyskinesia - Dystonia - Paroxysmal dyskinesia - 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) Wilms Tumor and Other Childhood Kidney Tumors ? [/INST] Assistant: Key Points - Childhood kidney tumors are diseases in which malignant (cancer) cells form in the tissues of the kidney. - There are many types of childhood kidney tumors. - Wilms Tumor - Renal Cell Cancer (RCC) - Rhabdoid Tumor of the Kidney - Clear Cell Sarcoma of the Kidney - Congenital Mesoblastic Nephroma - Ewing Sarcoma of the Kidney - Primary Renal Myoepithelial Carcinoma - Cystic Partially Differentiated Nephroblastoma - Multilocular Cystic Nephroma - Primary Renal Synovial Sarcoma - Anaplastic Sarcoma of the Kidney - Nephroblastomatosis is not cancer but may become Wilms tumor. - Having certain genetic syndromes or other conditions can increase the risk of Wilms tumor. - Tests are used to screen for Wilms tumor. - Having certain conditions may increase the risk of renal cell cancer. - Treatment for Wilms tumor and other childhood kidney tumors may include genetic counseling. - Signs of Wilms tumor and other childhood kidney tumors include a lump in the abdomen and blood in the urine. - Tests that examine the kidney and the blood are used to detect (find) and diagnose Wilms tumor and other childhood kidney tumors. - Certain factors affect prognosis (chance of recovery) and treatment options. Childhood kidney tumors are diseases in which malignant (cancer) cells form in the tissues of the kidney. There are two kidneys, one on each side of the backbone, above the waist. Tiny tubules in the kidneys filter and clean the blood. They take out waste products and make urine. The urine passes from each kidney through a long tube called a ureter into the bladder. The bladder holds the urine until it passes through the urethra and leaves the body. There are many types of childhood kidney tumors. Wilms Tumor In Wilms tumor, one or more tumors may be found in one or both kidneys. Wilms tumor may spread to the lungs, liver, bone, brain, or nearby lymph nodes. In children and adolescents younger than 15 years old, most kidney cancers are Wilms tumors. Renal Cell Cancer (RCC) Renal cell cancer is rare in children and adolescents younger than 15 years old. It is much more common in adolescents between 15 and 19 years old. Children and adolescents are more likely to be diagnosed with a large renal cell tumor or cancer that has spread. Renal cell cancers may spread to the lungs, liver, or lymph nodes. Renal cell cancer may also be called renal cell carcinoma. Rhabdoid Tumor of the Kidney Rhabdoid tumor of the kidney is a type of kidney cancer that occurs mostly in infants and young children. It is often advanced at the time of diagnosis. Rhabdoid tumor of the kidney grows and spreads quickly, often to the lungs or brain. Children with a certain change in the SMARCB1 gene are checked regularly to see if a rhabdoid tumor has formed in the kidney or has spread to the brain: - Children younger than one year old have an ultrasound of the abdomen every two to three months and an ultrasound of the head every month. - Children one to four years old have an ultrasound of the abdomen and an MRI of the brain and spine every three months. Clear Cell Sarcoma of the Kidney Clear cell sarcoma of the kidney is a type of kidney tumor that may spread to the lung, bone, brain, or soft tissue. When it recurs (comes back) after treatment, it often recurs in the brain or lung. Congenital Mesoblastic Nephroma Congenital mesoblastic nephroma is a tumor of the kidney that is often diagnosed during the first year of life. It can usually be cured. Ewing Sarcoma of the Kidney Ewing sarcoma (previously called neuroepithelial tumor) of the kidney is rare and usually occurs in young adults. These tumors grow and spread to other parts of the body quickly. Primary Renal Myoepithelial Carcinoma Primary renal myoepithelial carcinoma is a rare type of cancer that usually affects soft tissues, but sometimes forms in the internal organs (such as the kidney). This type of cancer grows and spreads quickly. Cystic Partially Differentiated Nephroblastoma Cystic partially differentiated nephroblastoma is a very rare type of Wilms tumor made up of cysts. Multilocular Cystic Nephroma Multilocular cystic nephromas are benign tumors made up of cysts and are most common in infants, young children, and adult women. These tumors can occur in one or both kidneys. Children with this type of tumor also may have pleuropulmonary blastoma, so imaging tests that check the lungs for cysts or solid tumors are done. Since multilocular cystic nephroma may be an inherited condition, genetic counseling and genetic testing may be considered. See the PDQ summary about Unusual Cancers of Childhood Treatment for more information about pleuropulmonary blastoma. Primary Renal Synovial Sarcoma Primary renal synovial sarcoma is a cyst-like tumor of the kidney and is most common in young adults. These tumors grow and spread quickly. Anaplastic Sarcoma of the Kidney Anaplastic sarcoma of the kidney is a rare tumor that is most common in children or adolescents younger than 15 years of age. Anaplastic sarcoma of the kidney often spreads to the lungs, liver, or bones. Imaging tests that check the lungs for cysts or solid tumors may be done. Since anaplastic sarcoma may be an inherited condition, genetic counseling and genetic testing may be considered. Nephroblastomatosis is not cancer but may become Wilms tumor. Sometimes, after the kidneys form in the fetus, abnormal groups of kidney cells remain in one or both kidneys. In nephroblastomatosis (diffuse hyperplastic perilobar nephroblastomatosis), these abnormal groups of cells may grow in many places inside the kidney or make a thick layer around the kidney. When these groups of abnormal cells are found in a kidney after it was removed for Wilms tumor, the child has an increased risk of Wilms tumor in the other kidney. Frequent follow-up testing is important at least every 3 months, for at least 7 years after the child is treated. Treatment for Wilms tumor and other childhood kidney tumors may include genetic counseling. Genetic counseling (a discussion with a trained professional about genetic diseases and whether genetic testing is needed) may be needed if the child has one of the following syndromes or conditions: - A genetic syndrome or condition that increases the risk of Wilms tumor. - An inherited condition that increases the risk of renal cell cancer. - Rhabdoid tumor of the kidney. - Multilocular cystic nephroma. </s>

<s>[INST] Human: What is (are) Sleep Apnea ? [/INST] Assistant: Sleep apnea is a common disorder that causes your breathing to stop or get very shallow. Breathing pauses can last from a few seconds to minutes. They may occur 30 times or more an hour. The most common type is obstructive sleep apnea. It causes your airway to collapse or become blocked during sleep. Normal breathing starts again with a snort or choking sound. People with sleep apnea often snore loudly. However, not everyone who snores has sleep apnea. You are more at risk for sleep apnea if you are overweight, male, or have a family history or small airways. Children with enlarged tonsils may also get it. Doctors diagnose sleep apnea based on medical and family histories, a physical exam, and sleep study results. When your sleep is interrupted throughout the night, you can be drowsy during the day. People with sleep apnea are at higher risk for car crashes, work-related accidents, and other medical problems. If you have it, it is important to get treatment. Lifestyle changes, mouthpieces, surgery, and breathing devices can treat sleep apnea in many people. NIH: National Heart, Lung, and Blood Institute </s>

<s>[INST] Human: What are the symptoms of Glanzmann thrombasthenia ? [/INST] Assistant: What are the signs and symptoms of Glanzmann thrombasthenia? The Human Phenotype Ontology provides the following list of signs and symptoms for Glanzmann thrombasthenia. 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 - Bruising susceptibility - Decreased platelet glycoprotein IIb-IIIa - Epistaxis - Gastrointestinal hemorrhage - Gingival bleeding - Impaired platelet aggregation - Intracranial hemorrhage - Menorrhagia - Prolonged bleeding time - Purpura - 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 Genitopatellar syndrome ? [/INST] Assistant: What are the signs and symptoms of Genitopatellar syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Genitopatellar 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) Abnormal nasal morphology 90% Abnormality of female external genitalia 90% Abnormality of pelvic girdle bone morphology 90% Brachydactyly syndrome 90% Cognitive impairment 90% Cryptorchidism 90% Microcephaly 90% Patellar aplasia 90% Polycystic kidney dysplasia 90% Prominent nasal bridge 90% Scrotal hypoplasia 90% Abnormal hair quantity 50% Aplasia/Hypoplasia of the corpus callosum 50% Delayed eruption of teeth 50% Fine hair 50% Hypertelorism 50% Long philtrum 50% Low-set, posteriorly rotated ears 50% Neurological speech impairment 50% Seizures 50% Talipes 50% Aplasia/Hypoplasia of the lungs 7.5% Apnea 7.5% Atria septal defect 7.5% Hearing impairment 7.5% Radioulnar synostosis 7.5% Short stature 7.5% Agenesis of corpus callosum - Autosomal recessive inheritance - Clitoral hypertrophy - Coarse facial features - Colpocephaly - Congenital hip dislocation - Dysphagia - Hip contracture - Hydronephrosis - Hypertrophic labia minora - Hypoplastic inferior pubic rami - Hypoplastic ischia - Intellectual disability, progressive - Knee flexion contracture - Laryngomalacia - Micropenis - Multicystic kidney dysplasia - Muscular hypotonia - Patellar dislocation - Periventricular gray matter heterotopia - Polyhydramnios - Prominent nose - Pulmonary hypoplasia - Short phalanx of finger - Sparse scalp hair - Talipes equinovarus - Ventricular septal defect - Wide nose - 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 Danon disease ? [/INST] Assistant: What are the signs and symptoms of Danon disease? Danon disease is characterized by cardiomyopathy. Cardiomyopathy causes the heart muscle to enlarge or become thicker and more rigid than normal. This may make the heart less able to pump blood through the body and can cause serious complications, including sudden death. People with danon disease may also manifest with high levels of serum creatine kinase, eye/vision abnormalities, or Wolff-Parkinson-White syndrome. Wolff-Parkinson-White syndrome is a condition characterized by abnormal electrical pathways in the heart that cause a disruption of the heart's normal rhythm (arrhythmia). Men with Danon disease tend to develop cardiomyopathy prior to the age of 20, and sometimes in early childhood. Women with Danon disease tend to develop cardiomyopathy later in adulthood, however cases of cardiomyopathy in young girls have been reported in the medical literature. Some women who carry LAMP2 gene mutation never develop any or only very minor symptoms. The following additional signs and symptoms are variably present in people with Danon disease: Learning and development (primarily reported in males, however there has been at least one report of an affected female) Mild intellectual ability Mental retardation Attention deficit disorder Skeletal muscle Exercise intolerance Muscle weakness Eye and vision Peripheral pigmentary retinopathy Lens changes Nearsightedness Abnormal visual fields Signs and symptoms of Danon disease can be very similar to those of hypertrophic cardiomyopathy, even though the underlying disease process differs. You can find detailed information on hypertrophic cardiomyopathy, which includes a brief description of Danon disease, by visiting the following link to GeneReviews. http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=hyper-card The Human Phenotype Ontology provides the following list of signs and symptoms for Danon disease. 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) Cognitive impairment 90% Gait disturbance 90% Hypertrophic cardiomyopathy 90% Muscle weakness 90% Sudden cardiac death 90% Intellectual disability 70% Arrhythmia - Cardiomegaly - Dilated cardiomyopathy - Elevated serum creatine phosphokinase - EMG: myopathic abnormalities - Exercise intolerance - Exercise-induced muscle cramps - Generalized amyotrophy - Hypokinesia - Myocardial fibrosis - Myocardial necrosis - Pes cavus - Phenotypic variability - Proximal muscle weakness - Visual impairment - Wolff-Parkinson-White syndrome - X-linked dominant 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: How many people are affected by Asperger syndrome ? [/INST] Assistant: The prevalence of Asperger syndrome is not well established. Estimates range from 1 in 250 to 1 in 5,000 children. Three to four times as many males are affected than females. Because of changes in the way developmental disorders are classified, Asperger syndrome was not often diagnosed in adults until recently, and the prevalence is often perceived to be rising as more people are recognized to have features of the condition. Many mildly affected individuals likely continue to be undiagnosed. </s>

<s>[INST] Human: What is (are) Zika virus infection ? [/INST] Assistant: Zika virus infection is spread to people primarily through the bite of an infected mosquito. Zika virus can also be spread from a pregnant mother to her child and through sexual contact with an affected male partner. Cases of Zika virus transmission via blood transfusions have also been reported. Zika virus outbreaks are currently occurring in many countries. Within the continental United States, Zika virus infections have mostly been in returning travelers. The illness associated with Zika virus infection is usually mild, with symptoms lasting for several days to a week. The most common symptoms of Zika are fever, rash, joint pain, and conjunctivitis (red eyes). However, recent research has suggested a link between Zika virus infection and Guillain-Barre syndrome (GBS). In addition, prenatal Zika virus infection has been shown to cause adverse pregnancy outcomes, including microcephaly and other serious brain anomalies. The precise risk of an adverse pregnancy outcome for a woman infected with Zika virus during pregnancy and the full spectrum of associated birth defects has not yet been determined. No vaccine currently exists to prevent Zika virus infection, but there are still ways to protect oneself. The CDC recommends that pregnant women consider postponing travel to Zika-affected areas. People living in or traveling to areas where Zika virus is found should take steps to prevent mosquito bites. Men who live in or who have traveled to Zika-affected areas can also take steps to prevent sexual transmission of the Zika virus. </s>

<s>[INST] Human: What is (are) Septo-Optic Dysplasia ? [/INST] Assistant: Septo-optic dysplasia (SOD) is a rare disorder characterized by abnormal development of the optic disk, pituitary deficiencies, and often agenesis (absence) of the septum pellucidum (the part of the brain that separates the anterior horns or the lateral ventricles of the brain). Symptoms may include blindness in one or both eyes, pupil dilation in response to light, nystagmus (a rapid, involuntary to-and-fro movement of the eyes), inward and outward deviation of the eyes, hypotonia (low muscle tone), and hormonal problems. Seizures may also occur. In a few cases, jaundice (prolonged yellow skin discoloration) may occur at birth. Intellectual problems vary in severity among individuals. While some children with SOD have normal intelligence, others have learning disabilities. Most, however, are developmentally delayed due to vision impairment or neurological problems. </s>

<s>[INST] Human: What are the treatments for Barth Syndrome ? [/INST] Assistant: There is no specific treatment for Barth syndrome. Bacterial infections caused by neutropenia can be effectively treated with antibiotics. The drug granulocyte colony stimulating factor, or GCSF, can stimulate white cell production by the bone marrow and help combat infection. Medicines may be prescribed to control heart problems. The dietary supplement carnitine has aided some children with Barth syndrome but in others it has caused increasing muscle weakness and even precipitated heart failure. Only careful dietary monitoring directed by a physician or nutritionist familiar with the disorder can ensure proper caloric and nutritional intake. </s>

<s>[INST] Human: How to diagnose Hailey-Hailey disease ? [/INST] Assistant: Is genetic testing available for Hailey-Hailey disease? Yes. ATP2C1 is the only gene known to be associated with Hailey-Hailey disease. Genetic testing is available to analyze the ATP2C1 gene for mutations.Genetic testing for at-risk relatives and prenatal testing are also possible if the disease-causing mutation in the family is known. How is Hailey-Hailey disease diagnosed? Diagnosis of Hailey-Hailey disease is usually made based on symptoms and family history. As it can be mistaken for other blistering skin conditions, a skin biopsy might be required. Genetic testing is available to confirm the diagnosis of Hailey-Hailey disease, but is not required. </s>

<s>[INST] Human: What are the stages of Childhood Ependymoma ? [/INST] Assistant: Key Points - The area where the tumor is found and the childs age are used in place of a staging system to plan cancer treatment. - The information from tests and procedures done to detect (find) childhood ependymoma is used to plan cancer treatment. The area where the tumor is found and the childs age are used in place of a staging system to plan cancer treatment. Staging is the process used to find out how much cancer there is and if cancer has spread. There is no standard staging system for childhood ependymoma. Treatment is based on where the cancer is in the body and the age of the child. The information from tests and procedures done to detect (find) childhood ependymoma is used to plan cancer treatment. Some of the tests used to detect childhood ependymoma are repeated after the tumor is removed by surgery. (See the General Information section.) This is to find out how much tumor remains after surgery. </s>

<s>[INST] Human: What is the outlook for Childhood Astrocytomas ? [/INST] Assistant: Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - Whether the tumor is a low-grade or high-grade astrocytoma. - Where the tumor has formed in the CNS and if it has spread to nearby tissue or to other parts of the body. - How fast the tumor is growing. - The child's age. - Whether cancer cells remain after surgery. - Whether there are changes in certain genes. - Whether the child has NF1 or tuberous sclerosis. - Whether the child has diencephalic syndrome (a condition which slows physical growth). - Whether the child has intracranial hypertension (cerebrospinal fluid pressure within the skull is high) at the time of diagnosis. - Whether the astrocytoma has just been diagnosed or has recurred (come back). For recurrent astrocytoma, prognosis and treatment depend on how much time passed between the time treatment ended and the time the astrocytoma recurred. </s>

<s>[INST] Human: What is (are) Squamous cell carcinoma ? [/INST] Assistant: Squamous cell carcinoma (SCC) is the second most common skin cancer. SCC most often affects individuals who are exposed to large amounts of sunlight. It is typically characterized by a red papule or plaque with a scaly or crusted surface; it may be suspected whenever a small, firm reddish-colored skin lesion, growth or bump appears on the skin, but it may also be a flat growth with a curly and crusted surface. Most often these growths are located on the face, ears, neck, hands and/or arms, but they may occur on the lips, mouth, tongue, genitalia or other area. The most common causes of SCC are radiation from the sun and arsenic exposure. With appropriate treatment, it is usually curable. </s>

<s>[INST] Human: How to diagnose Dry Eye ? [/INST] Assistant: Diagnosis of dry eye requires a comprehensive eye evaluation. Your eye care professional will ask you about your symptoms, your overall health (conditions for which you are treated, medications that you take), your eye history (use of contact lenses, past refractive or other eye surgery), and aspects of your daily environment (exposure to environmental allergens or occupational hazards). He or she will test your vision, check your eye pressure, examine your eyelids and front eye structures, and if necessary may dilate the pupils to examine the inside of the eye. Your eye care professional may order a tearing test to find out if your eyes are producing enough tears to keep them moist. In one type of test, called a Schirmers test, the doctor may measure your tear production by placing strips of blotting paper under your lower eyelids, usually done after numbing the eye with anesthetic drops. After a few minutes, the doctor removes the strips and measures the amount of tear production. </s>

<s>[INST] Human: What are the symptoms of Townes-Brocks syndrome ? [/INST] Assistant: What are the signs and symptoms of Townes-Brocks syndrome? Townes-Brocks syndrome is characterized by an obstruction of the anal opening (imperforate anus), abnormally shaped ears, and hand malformations that most often affect the thumbs. Most people with this condition have at least two of these three major features. Other possible signs and symptoms include kidney abnormalities, mild to profound sensorineural and/or conductive hearing loss, heart defects, and genital malformations. These features vary among affected individuals - even among those within the same family. Intellectual disability or learning problems have also been reported in about 10 percent of people with Townes-Brocks syndrome. Visit GeneReviews for more detailed information about the signs and symptoms of Townes-Brocks syndrome. The Human Phenotype Ontology provides the following list of signs and symptoms for Townes-Brocks 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) External ear malformation 90% Preauricular skin tag 90% Preaxial hand polydactyly 90% Triphalangeal thumb 90% Urogenital fistula 90% Camptodactyly of toe 50% Clinodactyly of the 5th finger 50% Clinodactyly of the 5th toe 50% Constipation 50% Cryptorchidism 50% Ectopic anus 50% Hearing impairment 50% Microtia 50% Pes planus 50% Preauricular pit 50% Renal insufficiency 50% Sensorineural hearing impairment 50% Anal atresia 47% 2-4 finger syndactyly 7.5% Abnormal localization of kidney 7.5% Abnormality of the pulmonary valve 7.5% Abnormality of the ribs 7.5% Abnormality of the tragus 7.5% Abnormality of the vagina 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Arnold-Chiari malformation 7.5% Atria septal defect 7.5% Bifid scrotum 7.5% Blepharophimosis 7.5% Bowel incontinence 7.5% Cataract 7.5% Chorioretinal coloboma 7.5% Cognitive impairment 7.5% Cranial nerve paralysis 7.5% Displacement of the external urethral meatus 7.5% Epibulbar dermoid 7.5% Facial asymmetry 7.5% Hypoplasia of penis 7.5% Hypothyroidism 7.5% Iris coloboma 7.5% Lower limb asymmetry 7.5% Multicystic kidney dysplasia 7.5% Patent ductus arteriosus 7.5% Preaxial foot polydactyly 7.5% Renal dysplasia 7.5% Renal hypoplasia 7.5% Short stature 7.5% Split foot 7.5% Strabismus 7.5% Tetralogy of Fallot 7.5% Toe syndactyly 7.5% Ulnar deviation of finger 7.5% Vesicoureteral reflux 7.5% Visual impairment 7.5% Wide mouth 7.5% Duane anomaly 5% 2-3 toe syndactyly - 3-4 finger syndactyly - 3-4 toe syndactyly - Anal stenosis - Aplasia/Hypoplasia of the 3rd toe - Autosomal dominant inheritance - Bifid uterus - Broad thumb - Duodenal atresia - Gastroesophageal reflux - Hypospadias - Intellectual disability - Macrotia - Metatarsal synostosis - Microcephaly - Overfolding of the superior helices - Partial duplication of thumb phalanx - Pseudoepiphyses of second metacarpal - Rectoperineal fistula - Rectovaginal fistula - Short metatarsal - Stahl ear - Umbilical hernia - Urethral valve - Ventricular septal defect - 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 Plasma Cell Neoplasms (Including Multiple Myeloma) ? [/INST] Assistant: Tests that examine the blood, bone marrow, and urine are used to detect (find) and diagnose multiple myeloma and other plasma cell neoplasms. 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. - Blood and urine immunoglobulin studies: A procedure in which a blood or urine sample is checked to measure the amounts of certain antibodies (immunoglobulins). For multiple myeloma, beta-2-microglobulin, M protein, free light chains, and other proteins made by the myeloma cells are measured. A higher-than-normal amount of these substances can be a sign of disease. - 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 abnormal cells. The following test may be done on the sample of tissue removed during the bone marrow aspiration and biopsy: - Cytogenetic analysis : A test in which cells in a sample of bone marrow are viewed under a microscope to look for certain changes in the chromosomes. Other tests, such as fluorescence in situ hybridization (FISH) and flow cytometry, may also be done to look for certain changes in the chromosomes. - Skeletal bone survey: In a skeletal bone survey, x-rays of all the bones in the body are taken. The x-rays are used to find areas where the bone is damaged. An x-ray is a type of energy beam that can go through the body and onto film, making a picture of areas inside the body. - Complete blood count (CBC) with differential : A procedure in which a sample of blood is drawn and checked for the following: - The number of red blood cells and platelets. - The number and type of white blood cells. - The amount of hemoglobin (the protein that carries oxygen) in the red blood cells. - The portion of the blood sample made up of red blood cells. - Blood chemistry studies : A procedure in which a blood sample is checked to measure the amounts of certain substances, such as calcium or albumin, released into the blood by organs and tissues in the body. An unusual (higher or lower than normal) amount of a substance can be a sign of disease. - Twenty-four-hour urine test: A test in which urine is collected for 24 hours to measure the amounts of certain substances. An unusual (higher or lower than normal) amount of a substance can be a sign of disease in the organ or tissue that makes it. A higher than normal amount of protein may be a sign of multiple myeloma. - MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body. This procedure is also called nuclear magnetic resonance imaging (NMRI). An MRI of the spine and pelvis may be used to find areas where the bone is damaged. - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, such as the spine, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - PET-CT scan : A procedure that combines the pictures from a positron emission tomography (PET) scan and a computed tomography (CT) scan. The PET and CT scans are done at the same time with the same machine. The combined scans give more detailed pictures of areas inside the body, such as the spine, than either scan gives by itself. </s>

<s>[INST] Human: What are the symptoms of Loeys-Dietz syndrome type 2 ? [/INST] Assistant: What are the signs and symptoms of Loeys-Dietz syndrome type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Loeys-Dietz 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) Absent distal phalanges 5% Arnold-Chiari malformation 5% Atria septal defect 5% Bicuspid aortic valve 5% Bicuspid pulmonary valve 5% Cerebral aneurysm 5% Cleft palate 5% Craniosynostosis 5% Descending aortic aneurysm 5% Disproportionate tall stature 5% Hydrocephalus 5% Inguinal hernia 5% Intellectual disability 5% Mitral valve prolapse 5% Osteoporosis 5% Postaxial polydactyly 5% Syndactyly 5% Umbilical hernia 5% Abnormality of the sternum - Arachnodactyly - Ascending aortic aneurysm - Ascending aortic dissection - Autosomal dominant inheritance - Bifid uvula - Blue sclerae - Brachydactyly syndrome - Camptodactyly - Dermal translucency - Exotropia - Generalized arterial tortuosity - Hypertelorism - Joint contracture of the hand - Joint laxity - Malar flattening - Patent ductus arteriosus - Proptosis - Pulmonary artery aneurysm - Retrognathia - Scoliosis - Talipes equinovarus - 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 Familial hemiplegic migraine type 2 ? [/INST] Assistant: How might hemiplegic migraine be treated? Treatment of hemiplegic migraine varies depending on severity and which symptoms are most problematic for the patient. In general, treatments aim to manage symptoms. Drugs that are effective in the prevention of common migraines may be used in hemiplegic migraine. Prophylactic management is applied to patients with frequent, long lasting, or severe attacks. Examples of migraine drugs that have been tried with variable success in people with hemiplegic migraine, include oral verapamil, acetazolamide, lamotrigine. There are a few articles describing the use of nasal administration of ketamine, intravenous verapamil, and triptans for treatment of aura in people with hemiplegic migraine. Use of triptans in hemiplegic migraine is controversial and may be contraindicated in people with severe attacks. For further information on these and other treatments, we recommend that you speak with your healthcare provider. </s>

<s>[INST] Human: What causes Mitochondrial genetic disorders ? [/INST] Assistant: What causes mitochondrial genetic disorders? Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria. Most DNA (hereditary material that is passed from parent to child) is packaged within the nucleus of each cell (known as nuclear DNA). However, mitochondria (the structures in each cell that produce energy) contain a small amount of their own DNA, which is known as mitochondrial DNA. When the mitochondria are not working properly, the body does not have enough energy to carry out its normal functions. This can lead to the variety of health problems associated with mitochondrial genetic disorders. </s>

<s>[INST] Human: What is (are) Schimke immunoosseous dysplasia ? [/INST] Assistant: Schimke immunoosseous dysplasia (SIOD) is a condition characterized by short stature, kidney disease, and a weakened immune system. Growth failure is often the first sign of this condition. Other features are usually detected in the evaluation for growth failure or in the following years. The severity of SIOD ranges from an infantile or severe early-onset form to a juvenile or milder late-onset form. Complications of the severe form of SIOD can include strokes, severe opportunistic infections, bone marrow failure, and kidney failure that can be life-threatening early in life. People with milder disease have survived to adulthood if their kidney disease is managed. This condition is inherited in an autosomal recessive pattern. Mutations in the SMARCAL1 gene increase the risk to develop Schimke immunoosseous dysplasia. However, in order for people with SMARCAL1 gene mutations to develop symptoms of Schimke immunoosseous dysplasia, other currently unknown genetic or environmental factors must also be present. </s>

<s>[INST] Human: What are the symptoms of Simosa cranio facial syndrome ? [/INST] Assistant: What are the signs and symptoms of Simosa cranio facial syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Simosa cranio facial 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 the antihelix 90% Abnormality of the antitragus 90% Abnormality of the palate 90% Abnormality of the tragus 90% Abnormality of the voice 90% Aplasia/Hypoplasia of the earlobes 90% Aplasia/Hypoplasia of the eyebrow 90% Blepharophimosis 90% Broad forehead 90% Chin dimple 90% Downturned corners of mouth 90% High forehead 90% Highly arched eyebrow 90% Hypoplasia of the zygomatic bone 90% Long face 90% Long philtrum 90% Macrotia 90% Malar flattening 90% Narrow mouth 90% Telecanthus 90% Underdeveloped nasal alae 90% Wide nasal bridge 90% Cryptorchidism 50% Hernia of the abdominal wall 50% Low-set, posteriorly rotated ears 50% Scoliosis 50% Scrotal hypoplasia 50% Camptodactyly of finger 7.5% Abnormality of the pinna 2/2 Abnormality of the skin 2/2 Blepharophimosis 2/2 Broad forehead 2/2 Depressed nasal tip 2/2 High, narrow palate 2/2 Highly arched eyebrow 2/2 Inguinal hernia 2/2 Long face 2/2 Long nose 2/2 Long philtrum 2/2 Low-set ears 2/2 Malar flattening 2/2 Narrow mouth 2/2 Nasal speech 2/2 Posteriorly rotated ears 2/2 Sparse eyebrow 2/2 Telecanthus 2/2 Underdeveloped nasal alae 2/2 Wide nasal bridge 2/2 Autosomal dominant 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 Friedreich ataxia ? [/INST] Assistant: Mutations in the FXN gene cause Friedreich ataxia. This gene provides instructions for making a protein called frataxin. Although its role is not fully understood, frataxin appears to be important for the normal function of mitochondria, the energy-producing centers within cells. One region of the FXN gene contains a segment of DNA known as a GAA trinucleotide repeat. This segment is made up of a series of three DNA building blocks (one guanine and two adenines) that appear multiple times in a row. Normally, this segment is repeated 5 to 33 times within the FXN gene. In people with Friedreich ataxia, the GAA segment is repeated 66 to more than 1,000 times. The length of the GAA trinucleotide repeat appears to be related to the age at which the symptoms of Friedreich ataxia appear. People with GAA segments repeated fewer than 300 times tend to have a later appearance of symptoms (after age 25) than those with larger GAA trinucleotide repeats. The abnormally long GAA trinucleotide repeat disrupts the production of frataxin, which severely reduces the amount of this protein in cells. Certain nerve and muscle cells cannot function properly with a shortage of frataxin, leading to the characteristic signs and symptoms of Friedreich ataxia. </s>

<s>[INST] Human: Do you have information about Mercury [/INST] Assistant: Summary : Mercury is an element that is found in air, water and soil. It has several forms. Metallic mercury is a shiny, silver-white, odorless liquid. If heated, it is a colorless, odorless gas. It also combines with other elements to form powders or crystals. Mercury is in many products. Metallic mercury is used in glass thermometers, silver dental fillings, and button batteries. Mercury salts may be used in skin creams and ointments. It's also used in many industries. Mercury in the air settles into water. It can pass through the food chain and build up in fish, shellfish, and animals that eat fish. The nervous system is sensitive to all forms of mercury. Exposure to high levels can damage the brain and kidneys. Pregnant women can pass the mercury in their bodies to their babies. It is important to protect your family from mercury exposure: - Carefully handle and dispose of products that contain mercury - Limit your consumption of fish with higher levels of mercury Agency for Toxic Substances and Disease Registry </s>

<s>[INST] Human: Who is at risk for Metabolic Syndrome? ? [/INST] Assistant: People at greatest risk for metabolic syndrome have these underlying causes: Abdominal obesity (a large waistline) An inactive lifestyle Insulin resistance Some people are at risk for metabolic syndrome because they take medicines that cause weight gain or changes in blood pressure, blood cholesterol, and blood sugar levels. These medicines most often are used to treat inflammation, allergies, HIV, and depression and other types of mental illness. Populations Affected Some racial and ethnic groups in the United States are at higher risk for metabolic syndrome than others. Mexican Americans have the highest rate of metabolic syndrome, followed by whites and blacks. Other groups at increased risk for metabolic syndrome include: People who have a personal history of diabetes People who have a sibling or parent who hasdiabetes Women when compared with men Women who have a personal history of polycystic ovarian syndrome (a tendency to develop cysts on the ovaries) Heart Disease Risk Metabolic syndrome increases your risk for coronary heart disease. Other risk factors, besides metabolic syndrome, also increase your risk for heart disease. For example, a high LDL (bad) cholesterol level and smoking are major risk factors for heart disease. For details about all of the risk factors for heart disease, go to the Coronary Heart Disease Risk Factors HealthTopic. Even if you dont have metabolic syndrome, you should find out your short-term risk for heart disease. The National Cholesterol Education Program (NCEP) divides short-term heart disease risk into four categories. Your risk category depends on which risk factors you have and how many you have. Your risk factors are used to calculate your 10-year risk of developing heart disease. The NCEP has an online calculator that you can use to estimate your 10-year risk of having a heart attack. High risk: Youre in this category if you already have heart disease or diabetes, or if your 10-year risk score is more than 20 percent. Moderately high risk: Youre in this category if you have two or more risk factors and your 10-year risk score is 10 percent to 20 percent. Moderate risk: Youre in this category if you have two or more risk factors and your 10-year risk score is less than 10 percent. Lower risk: Youre in this category if you have zero or one risk factor. Even if your 10-year risk score isnt high, metabolic syndrome will increase your risk for coronary heart disease over time. </s>

<s>[INST] Human: Do you have information about Dietary Fats [/INST] Assistant: Summary : Fat is a type of nutrient. You need some fat in your diet but not too much. Fats give you energy and help your body absorb vitamins. Dietary fat also plays a major role in your cholesterol levels. But not all fats are the same. You should try to avoid - Saturated fats such as butter, solid shortening, and lard - Trans fats. These are found in vegetable shortenings, some margarines, crackers, cookies, snack foods, and other foods made with or fried in partially hydrogenated oils (PHOs). By 2018, most U.S. companies will not be allowed to add PHOs to food. Try to replace them with oils such as canola, olive, safflower, sesame, or sunflower. Of course, eating too much fat will put on the pounds. Fat has twice as many calories as proteins or carbohydrates. NIH: National Heart, Lung, and Blood Institute </s>

<s>[INST] Human: What are the treatments for adenosine deaminase deficiency ? [/INST] Assistant: These resources address the diagnosis or management of ADA deficiency: - American Society of Gene and Cell Therapy: Gene Therapy for Genetic Disorders - Baby's First Test: Severe Combined Immunodeficiency - Gene Review: Gene Review: Adenosine Deaminase Deficiency - Genetic Testing Registry: Severe combined immunodeficiency due to ADA deficiency - National Marrow Donor Program: SCID and Transplant 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 complications of Wilson Disease ? [/INST] Assistant: People who have Wilson disease that is not treated or diagnosed early can have serious complications, such as - cirrhosisscarring of the liver - kidney damageas liver function decreases, the kidneys may be damaged - persistent nervous system problems when nervous system symptoms do not resolve - liver cancerhepatocellular carcinoma is a type of liver cancer that can occur in people with cirrhosis - liver failurea condition in which the liver stops working properly - death, if left untreated </s>

<s>[INST] Human: How many people are affected by 18q deletion syndrome ? [/INST] Assistant: 18q deletion syndrome occurs in an estimated 1 in 40,000 newborns. This condition is found in people of all ethnic backgrounds. </s>

<s>[INST] Human: What is (are) Infantile-onset ascending hereditary spastic paralysis ? [/INST] Assistant: Infantile-onset ascending hereditary spastic paralysis is a motor neuron disease characterized by progressive weakness and stiffness of muscles in the arms, legs, and face. Initial symptoms usually occur within the first 2 years of life and include weakness of the legs, leg muscles that are abnormally tight and stiff, and eventual paralysis of the legs. Over time, muscle weakness and stiffness travels up (ascends) the body from the legs to the head. Infantile-onset ascending hereditary spastic paralysisis caused by mutations in the ALS2 gene, and this condition is inherited in an autosomal recessive pattern. </s>

<s>[INST] Human: How to diagnose Pneumonia ? [/INST] Assistant: Pneumonia can be hard to diagnose because it may seem like a cold or the flu. You may not realize it's more serious until it lasts longer than these other conditions. Your doctor will diagnose pneumonia based on your medical history, a physical exam, and test results. Medical History Your doctor will ask about your signs and symptoms and how and when they began. To find out what type of germ is causing the pneumonia, he or she also may ask about: Any recent traveling you've done Your hobbies Your exposure to animals Your exposure to sick people at home, school, or work Your past and current medical conditions, and whether any have gotten worse recently Any medicines you take Whether you smoke Whether you've had flu or pneumonia vaccinations Physical Exam Your doctor will listen to your lungs with a stethoscope. If you have pneumonia, your lungs may make crackling, bubbling, and rumbling sounds when you inhale. Your doctor also may hear wheezing. Your doctor may find it hard to hear sounds of breathing in some areas of your chest. Diagnostic Tests If your doctor thinks you have pneumonia, he or she may recommend one or more of the following tests. Chest X Ray A chest x ray is a painless test that creates pictures of the structures inside your chest, such as your heart, lungs, and blood vessels. A chest x ray is the best test for diagnosing pneumonia. However, this test won't tell your doctor what kind of germ is causing the pneumonia. Blood Tests Blood tests involve taking a sample of blood from a vein in your body. A complete blood count (CBC) measures many parts of your blood, including the number of white blood cells in the blood sample. The number of white blood cells can show whether you have a bacterial infection. Your doctor also may recommend a blood culture to find out whether the infection has spread to your bloodstream. This test is used to detect germs in the bloodstream. A blood culture may show which germ caused the infection. If so, your doctor can decide how to treat the infection. Other Tests Your doctor may recommend other tests if you're in the hospital, have serious symptoms, are older, or have other health problems. Sputum test. Your doctor may look at a sample of sputum (spit) collected from you after a deep cough. This may help your doctor find out what germ is causing your pneumonia. Then, he or she can plan treatment. Chest computed tomography (CT) scan. A chest CT scan is a painless test that creates precise pictures of the structures in your chest, such as your lungs. A chest CT scan is a type of x ray, but its pictures show more detail than those of a standard chest xray. Pleural fluid culture. For this test, a fluid sample is taken from the pleural space (a thin space between two layers of tissue that line the lungs and chest cavity). Doctors use a procedure called thoracentesis (THOR-ah-sen-TE-sis) to collect the fluid sample. The fluid is studied for germs that may cause pneumonia. Pulse oximetry. For this test, a small sensor is attached to your finger or ear. The sensor uses light to estimate how much oxygen is in your blood. Pneumonia can keep your lungs from moving enough oxygen into your bloodstream. If you're very sick, your doctor may need to measure the level of oxygen in your blood using a blood sample. The sample is taken from an artery, usually in your wrist. This test is called an arterial blood gas test. Bronchoscopy. Bronchoscopy (bron-KOS-ko-pee) is a procedure used to look inside the lungs' airways. If you're in the hospital and treatment with antibiotics isn't working well, your doctor may use this procedure. Your doctor passes a thin, flexible tube through your nose or mouth, down your throat, and into the airways. The tube has a light and small camera that allow your doctor to see your windpipe and airways and take pictures. Your doctor can see whether something is blocking your airways or whether another factor is contributing to your pneumonia. </s>

<s>[INST] Human: what research (or clinical trials) is being done for Tethered Spinal Cord Syndrome ? [/INST] Assistant: The NINDS conducts and supports research on disorders of the spinal cord. The goals of this research are to find ways to prevent, treat, and cure these disorders. </s>

<s>[INST] Human: What are the treatments for Dominant dystrophic epidermolysis bullosa ? [/INST] Assistant: How might dominant dystrophic epidermolysis bullosa be treated? There is currently no cure for all types of dystrophic epidermolysis bullosa (DEB). Treatment generally focuses on managing signs and symptoms. For some individuals, such as those that have a mild form of dominant dystrophic epidermolysis bullosa (DDEB), dystrophic nails may be the only manifestation. However, other individuals may have much more severe problems that need to be managed. Management typically focuses on treating blisters and avoiding or treating infections. Wound care usually included treatment of new blisters by lancing and draining. Additionally in most cases, wounds are then dressed with a non-adherent material, covered with padding for stability and protection, and secured with an elastic wrap for integrity. Due to the increased risk of bacterial resistance, topical antibiotic ointments and antimicrobial dressings should be reserved for those wounds that are colonized with bacteria and fail to heal, referred to as critical colonization." Individuals with epidermolysis bullosa (EB) have increased caloric and protein needs due to the increased energy utilized in wound healing. Involvement of the digestive system in some forms of EB may limit nutritional intake. Infants and children with more severe forms of EB and failure to thrive usually require attention to fluid and electrolyte balance and may require nutritional support, including a gastrotomy feeding tube. Anemia is typically treated with iron supplements and transfusions as needed. Other nutritional supplements may include calcium, vitamin D, selenium, carnitine, and zinc. Surveillance is important for individuals with DEB. Biopsies of abnormal-appearing wounds that do not heal may be recommended in some types of DEB due to predisposition to squamous cell carcinoma, beginning in the second decade of life. Screening for deficiencies of iron, zinc, vitamin D, selenium, and carnitine is typically recommended after the first year of life. Routine echocardiograms are recommended to identify dilated cardiomyopathy, and bone mineral density studies are recommended to identify osteoporosis. Activities and bandages that may traumatize the skin (including all adhesives) should typically be avoided. Recent treatment advancements and therapies under investigation include but are not limited to: Use of biological dressings to treat chronic or recurrent skin ulcers Bone marrow transplantation Intra-dermal (in the skin) injection of fibroblasts Protein replacement therapy (intra-dermal injection of type VII collagen) Gene therapy Revertant mosaicism Gene correction technologies (ex. CRISPR) DEBRA International has developed clinical practice guidelines for different aspects of treating EB including wound care and pain management. Click on the link to see their completed guidelines. </s>

<s>[INST] Human: What is (are) Dengue ? [/INST] Assistant: Dengue is an infection caused by a virus. You can get it if an infected mosquito bites you. Dengue does not spread from person to person. It is common in warm, wet areas of the world. Outbreaks occur in the rainy season. Dengue is rare in the United States. Symptoms include a high fever, headaches, joint and muscle pain, vomiting, and a rash. In some cases, dengue turns into dengue hemorrhagic fever, which causes bleeding from your nose, gums, or under your skin. It can also become dengue shock syndrome, which causes massive bleeding and shock. These forms of dengue are life-threatening. There is no specific treatment. Most people with dengue recover within 2 weeks. Until then, drinking lots of fluids, resting and taking non-aspirin fever-reducing medicines might help. People with the more severe forms of dengue usually need to go to the hospital and get fluids. To lower your risk when traveling to areas where dengue is found - Wear insect repellent with DEET - Wear clothes that cover your arms, legs and feet - Close unscreened doors and windows NIH: National Institute of Allergy and Infectious Diseases </s>

<s>[INST] Human: What are the treatments for Multiple familial trichoepithelioma ? [/INST] Assistant: How might multiple familial trichoepithelioma be treated? Several therapies have been used to treat multiple trichoepitheliomas, with variable results. A single trichoepithelioma may be treated with surgery. Cryosurgery or laser surgery may be used to remove multiple trichoepitheliomas. Imiquimod cream has also been used as a treatment for trichoepitheliomas, with some improvement in symptoms. Other treatments have included dermabrasion, photodynamic therapy, and other medications. However, in most cases, multiple trichoepitheliomas eventually regrow following treatment. </s>

<s>[INST] Human: Do you have information about Native Hawaiian and Pacific Islander Health [/INST] Assistant: Summary : Every racial or ethnic group has specific health concerns. Differences in the health of groups can result from: - Genetics - Environmental factors - Access to care - Cultural factors On this page, you'll find links to health issues that affect Native Hawaiians and Pacific Islanders. </s>

<s>[INST] Human: What is (are) Bleeding Disorders ? [/INST] Assistant: Normally, if you get hurt, your body forms a blood clot to stop the bleeding. For blood to clot, your body needs cells called platelets and proteins known as clotting factors. If you have a bleeding disorder, you either do not have enough platelets or clotting factors or they don't work the way they should. Bleeding disorders can be the result of other diseases, such as severe liver disease. They can also be inherited. Hemophilia is an inherited bleeding disorder. Bleeding disorders can also be a side effect of medicines. </s>

<s>[INST] Human: What is (are) Congenital Myopathy ? [/INST] Assistant: A myopathy is a disorder of the muscles that usually results in weakness. Congenital myopathy refers to a group of muscle disorders that appear at birth or in infancy. Typically, an infant with a congenital myopathy will be "floppy," have difficulty breathing or feeding, and will lag behind other babies in meeting normal developmental milestones such as turning over or sitting up. Muscle weakness can occur for many reasons, including a problem with the muscle, a problem with the nerve that stimulates the muscle, or a problem with the brain. Therefore, to diagnose a congenital myopathy, a neurologist will perform a detailed physical exam as well as tests to determine the cause of weakness. If a myopathy is suspected, possible tests include a blood test for a muscle enzyme called creatine kinase, an electromyogram (EMG) to evaluate the electrical activity of the muscle, a muscle biopsy, and genetic testing. There are currently seven distinct types of congenital myopathy, with some variation in symptoms, complications, treatment options, and outlook. Nemaline myopathy is the most common congenital myopathy. Infants usually have problems with breathing and feeding. Later, some skeletal problems may arise, such as scoliosis (curvature of the spine). In general, the weakness does not worsen during life. Myotubular myopathy is rare and only affects boys. Weakness and floppiness are so severe that a mother may notice reduced movements of the baby in her womb during pregnancy. There are usually significant breathing and swallowing difficulties; many children do not survive infancy. Osteopenia (weakening of the bones) is also associated with this disorder. Centronuclear myopathy is rare and begins in infancy or early childhood with weakness of the arms and legs, droopy eyelids, and problems with eye movements. Weakness often gets worse with time. Central core disease varies among children with regard to the severity of problems and the degree of worsening over time. Usually, there is mild floppiness in infancy, delayed milestones, and moderate limb weakness, which do not worsen much over time. Children with central core disease may have life-threatening reactions to general anesthesia. Treatment with the drug salbutamol has been shown to reduce weakness significantly, although it does not cure the disorder. Multi-minicore disease has several different subtypes. Common to most is severe weakness of the limbs and scoliosis. Often breathing difficulties occur as well. Some children have weakened eye movements. Congenital fiber-type disproportion myopathy is a rare disorder that begins with floppiness, limb and facial weakness, and breathing problems. Hyaline body myopathy is a disorder characterized by the specific appearance under the microscope of a sample of muscle tissue. It probably includes several different causes. Because of this, the symptoms are quite variable. </s>

<s>[INST] Human: How to diagnose Indigestion ? [/INST] Assistant: To diagnose indigestion, the doctor asks about the person's current symptoms and medical history and performs a physical examination. The doctor may order x rays of the stomach and small intestine. The doctor may perform blood, breath, or stool tests if the type of bacteria that causes peptic ulcer disease is suspected as the cause of indigestion. The doctor may perform an upper endoscopy. After giving a sedative to help the person become drowsy, the doctor passes an endoscopea long, thin tube that has a light and small camera on the endthrough the mouth and gently guides it down the esophagus into the stomach. The doctor can look at the esophagus and stomach with the endoscope to check for any abnormalities. The doctor may perform biopsiesremoving small pieces of tissue for examination with a microscopeto look for possible damage from GERD or an infection. Because indigestion can be a sign of a more serious condition, people should see a doctor right away if they experience - frequent vomiting - blood in vomit - weight loss or loss of appetite - black tarry stools - difficult or painful swallowing - abdominal pain in a nonepigastric area - indigestion accompanied by shortness of breath, sweating, or pain that radiates to the jaw, neck, or arm - symptoms that persist for more than 2 weeks </s>

<s>[INST] Human: What is (are) Zellweger spectrum disorder ? [/INST] Assistant: Zellweger spectrum disorder is a group of conditions that have overlapping signs and symptoms and affect many parts of the body. This group of conditions includes Zellweger syndrome, neonatal adrenoleukodystrophy (NALD), and infantile Refsum disease. These conditions were once thought to be distinct disorders but are now considered to be part of the same condition spectrum. Zellweger syndrome is the most severe form of the Zellweger spectrum disorder, NALD is intermediate in severity, and infantile Refsum disease is the least severe form. Because these three conditions are now considered one disorder, some researchers prefer not to use the separate condition names but to instead refer to cases as severe, intermediate, or mild. Individuals with Zellweger syndrome, at the severe end of the spectrum, develop signs and symptoms of the condition during the newborn period. These infants experience weak muscle tone (hypotonia), feeding problems, hearing and vision loss, and seizures. These problems are caused by the breakdown of myelin, which is the covering that protects nerves and promotes the efficient transmission of nerve impulses. The part of the brain and spinal cord that contains myelin is called white matter. Destruction of myelin (demyelination) leads to loss of white matter (leukodystrophy). Children with Zellweger syndrome also develop life-threatening problems in other organs and tissues, such as the liver, heart, and kidneys. They may have skeletal abnormalities, including a large space between the bones of the skull (fontanels) and characteristic bone spots known as chondrodysplasia punctata that can be seen on x-ray. Affected individuals have distinctive facial features, including a flattened face, broad nasal bridge, and high forehead. Children with Zellweger syndrome typically do not survive beyond the first year of life. People with NALD or infantile Refsum disease, which are at the less-severe end of the spectrum, have more variable features than those with Zellweger syndrome and usually do not develop signs and symptoms of the disease until late infancy or early childhood. They may have many of the features of Zellweger syndrome; however, their condition typically progresses more slowly. Children with these less-severe conditions often have hypotonia, vision problems, hearing loss, liver dysfunction, developmental delay, and some degree of intellectual disability. Most people with NALD survive into childhood, and those with infantile Refsum disease may reach adulthood. In rare cases, individuals at the mildest end of the condition spectrum have developmental delay in childhood and hearing loss or vision problems beginning in adulthood and do not develop the other features of this disorder. </s>

<s>[INST] Human: How many people are affected by autoimmune Addison disease ? [/INST] Assistant: Addison disease affects approximately 11 to 14 in 100,000 people of European descent. The autoimmune form of the disorder is the most common form in developed countries, accounting for up to 90 percent of cases. </s>

<s>[INST] Human: What are the treatments for Normal Pressure Hydrocephalus ? [/INST] Assistant: Treatment for NPH involves surgical placement of a shunt in the brain to drain excess CSF into the abdomen where it can be absorbed as part of the normal circulatory process. This allows the brain ventricles to return to their normal size. Regular follow-up care by a physician is important in order to identify subtle changes that might indicate problems with the shunt. </s>

<s>[INST] Human: How to prevent Medullary Sponge Kidney ? [/INST] Assistant: Scientists have not yet found a way to prevent medullary sponge kidney. However, health care providers can recommend medications and dietary changes to prevent future UTIs and kidney stones. </s>