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What are the symptoms of Kohlschutter Tonz syndrome ? | What are the signs and symptoms of Kohlschutter Tonz syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kohlschutter Tonz 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... | [
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What are the symptoms of Shingles ? | The first symptoms usually include burning, itching, or tingling sensations on the back, chest, or around the rib cage or waist. In other cases, it can be the face or eye area that is involved. The affected area can become extremely painful. This is when most people go to a healthcare provider to find out what is causi... | [
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How to diagnose Bronchiectasis ? | Your doctor may suspect bronchiectasis if you have a daily cough that produces large amounts of sputum (spit).
To find out whether you have bronchiectasis, your doctor may recommend tests to:
Identify any underlying causes that require treatment
Rule out other causes o... | [
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Who is at risk for Insomnia? ? | Insomnia is a common disorder. It affects women more often than men. The disorder can occur at any age. However, older adults are more likely to have insomnia than younger people.
People who might be at increased risk for insomnia include those who:
Have a lot of stress.
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Is familial acute myeloid leukemia with mutated CEBPA inherited ? | Familial acute myeloid leukemia with mutated CEBPA is inherited in an autosomal dominant pattern. Autosomal dominant inheritance means that one copy of the altered CEBPA gene in each cell is sufficient to cause the disorder. Most affected individuals also acquire a second, somatic CEBPA gene mutation in their leukemia ... | [
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What are the symptoms of Marshall-Smith syndrome ? | What are the signs and symptoms of Marshall-Smith syndrome? Marshall-Smith syndrome is characterized by accelerated skeletal maturation, relative failure to thrive, respiratory difficulties, mental retardation, and unusual facies, including wide and prominent forehead, protruding and widely spaced eyes, blue sclerae (t... | [
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How to prevent Thrombotic Thrombocytopenic Purpura ? | Both inherited and acquired thrombotic thrombocytopenic purpura (TTP) occur suddenly with no clear cause. You can't prevent either type.
If you've had TTP, watch for signs and symptoms of a relapse (flareup). (For more information, go to "Living With Thrombotic Thrombocytopenic Purpura.")
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what research (or clinical trials) is being done for Tay-Sachs Disease ? | The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. The NINDS is a part of the National Institutes of Health (NIH), the leading supporter of biomedic... | [
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What is (are) Hypersensitivity Pneumonitis ? | Hypersensitivity pneumonitis (noo-mo-NI-tis), or HP, is a disease in which the lungs become inflamed from breathing in foreign substances, such as molds, dusts, and chemicals. These substances also are known as antigens (AN-tih-jens).
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Is dyskeratosis congenita inherited ? | Dyskeratosis congenita can have different inheritance patterns. When dyskeratosis congenita is caused by DKC1 gene mutations, it is inherited in an X-linked recessive pattern. The DKC1 gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered c... | [
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What are the symptoms of Premature ovarian failure, familial ? | What are the signs and symptoms of Premature ovarian failure, familial? The Human Phenotype Ontology provides the following list of signs and symptoms for Premature ovarian failure, familial. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can u... | [
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What is (are) Adolescent idiopathic scoliosis ? | Adolescent idiopathic scoliosis is an abnormal curvature of the spine that appears in late childhood or adolescence. Instead of growing straight, the spine develops a side-to-side curvature, usually in an elongated "s" or "C" shape, and the bones of the spine become slightly twisted or rotated. In many cases, the abnor... | [
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What are the genetic changes related to bradyopsia ? | Bradyopsia can be caused by mutations in the RGS9 gene or in the RGS9BP gene (which is also known as R9AP). These genes provide instructions for making proteins that are necessary for normal vision. The proteins are found in light-detecting cells in the eye called photoreceptors. When light enters the eye, it stimulate... | [
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What are the genetic changes related to hereditary hemochromatosis ? | Mutations in the HAMP, HFE, HFE2, SLC40A1, and TFR2 genes cause hereditary hemochromatosis. Type 1 hemochromatosis results from mutations in the HFE gene, and type 2 hemochromatosis results from mutations in either the HFE2 or HAMP gene. Mutations in the TFR2 gene cause type 3 hemochromatosis, and mutations in the SLC4... | [
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Who is at risk for Osteoporosis? ? | Women have smaller bones, and they lose bone more rapidly than men because of hormone changes that occur after menopause. Therefore, women are at higher risk for osteoporosis. | [
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What are the treatments for homocystinuria ? | These resources address the diagnosis or management of homocystinuria: - Baby's First Test - Gene Review: Gene Review: Disorders of Intracellular Cobalamin Metabolism - Gene Review: Gene Review: Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency - Genetic Testing Registry: Homocysteinemia due to MTHFR ... | [
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What are the treatments for Netherton syndrome ? | These resources address the diagnosis or management of Netherton syndrome: - Genetic Testing Registry: Netherton syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Co... | [
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What are the treatments for Idiopathic Pulmonary Fibrosis ? | Doctors may prescribe medicines, oxygen therapy, pulmonary rehabilitation (PR), and lung transplant to treat idiopathic pulmonary fibrosis (IPF).
Medicines
Currently, no medicines are proven to slow the progression of IPF.
Prednisone, azathioprine (A-zah-THI-o-preen), ... | [
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What causes Glycogen storage disease type 4 ? | What causes glycogen storage disease type 4? Glycogen storage disease type 4 (GSD 4) is caused by mutations in the GBE1 gene. The GBE1 gene normally provides instructions for making the glycogen branching enzyme. This enzyme is necessary for making glycogen, a major source of stored energy in the body. Glycogen is form... | [
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What are the stages of Gallbladder Cancer ? | Key Points
- Tests and procedures to stage gallbladder cancer are usually done at the same time as diagnosis. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. - The following stages are used for gallbladder cancer: ... | [
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What to do for Inguinal Hernia ? | Researchers have not found that eating, diet, and nutrition play a role in causing inguinal hernias. A person with an inguinal hernia may be able to prevent symptoms by eating high-fiber foods. Fresh fruits, vegetables, and whole grains are high in fiber and may help prevent the constipation and straining that cause so... | [
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What is (are) Spine Injuries and Disorders ? | Your backbone, or spine, is made up of 26 bone discs called vertebrae. The vertebrae protect your spinal cord and allow you to stand and bend. A number of problems can change the structure of the spine or damage the vertebrae and surrounding tissue. They include - Infections - Injuries - Tumors - Conditi... | [
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What is (are) hepatic veno-occlusive disease with immunodeficiency ? | Hepatic veno-occlusive disease with immunodeficiency (also called VODI) is a hereditary disorder of the liver and immune system. Its signs and symptoms appear after the first few months of life. Hepatic veno-occlusive disease is a condition that blocks (occludes) small veins in the liver, disrupting blood flow in this... | [
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what research (or clinical trials) is being done for Ovarian Low Malignant Potential Tumors ? | New types of treatment are being tested in clinical trials.
Information about clinical trials is available from the NCI Web site.
Patients may want to think about taking part in a clinical trial.
For some patients, taking part... | [
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Is Sjogren syndrome inherited ? | Is Sjogren syndrome inherited? A genetic predisposition to Sjogren syndrome has been suggested. Familial clustering of different autoimmune diseases as well as co-association of multiple autoimmune diseases in individuals have frequently been reported. Some studies have shown up to 30% of people with Sjogren syndrome h... | [
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What are the treatments for Aicardi-Goutieres syndrome ? | These resources address the diagnosis or management of Aicardi-Goutieres syndrome: - Gene Review: Gene Review: Aicardi-Goutieres Syndrome - Genetic Testing Registry: Aicardi Goutieres syndrome - Genetic Testing Registry: Aicardi Goutieres syndrome 1 - Genetic Testing Registry: Aicardi Goutieres syndrome 2 - Geneti... | [
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Who is at risk for Lung Cancer? ? | Risk factors that increase your chance of getting lung cancer include - cigarette, cigar, and pipe smoking, which account for well over half of all cases of lung cancer - secondhand smoke - family history - HIV infection - environmental risk factors - beta carotene supplements in heavy smokers. cigarette, cigar, a... | [
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How to diagnose Hairy Cell Leukemia ? | Tests that examine the blood and bone marrow are used to detect (find) and diagnose hairy cell leukemia. 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 a swollen spleen, lumps,... | [
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What to do for Renal Artery Stenosis ? | Limiting intake of fats, cholesterol, sodium, and sugar can help prevent atherosclerosis, which can lead to RAS. Most sodium in the diet comes from salt. A healthy diet that prevents people from becoming overweight or obese can also help prevent atherosclerosis. People with RAS that has caused decreased kidney function... | [
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What are the genetic changes related to progressive pseudorheumatoid dysplasia ? | PPRD is caused by mutations in the WISP3 gene. The function of the protein produced from this gene is not well understood, although it is thought to play a role in bone growth and cartilage maintenance. The WISP3 protein is made in cells called chondrocytes, which produce and maintain cartilage. This protein is associa... | [
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What is the outlook for Williams Syndrome ? | The prognosis for individuals with WS varies. Some degree of impaired intellect is found in most people with the disorder. Some adults are able to function independently, complete academic or vocational school, and live in supervised homes or on their own; most live with a caregiver. Parents can increase the likelihood... | [
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What causes Polycystic Kidney Disease ? | A gene mutation, or defect, causes polycystic kidney disease. Genes provide instructions for making proteins in the body. A gene mutation is a permanent change in the deoxyribonucleic acid (DNA) sequence that makes up a gene. In most cases of PKD, a person inherits the gene mutation, meaning a parent passes it on in hi... | [
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What are the treatments for Incontinentia Pigmenti ? | The skin abnormalities of IP usually disappear by adolescence or adulthood without treatment. Diminished vision may be treated with corrective lenses, medication, or, in severe cases, surgery. A specialist may treat dental problems. Neurological symptoms such as seizures, muscle spasms, or mild paralysis may be control... | [
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What are the symptoms of T-cell lymphoma 1A ? | What are the signs and symptoms of T-cell lymphoma 1A? The Human Phenotype Ontology provides the following list of signs and symptoms for T-cell lymphoma 1A. 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 Diction... | [
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What is (are) thiopurine S-methyltransferase deficiency ? | Thiopurine S-methyltransferase (TPMT) deficiency is a condition characterized by significantly reduced activity of an enzyme that helps the body process drugs called thiopurines. These drugs, which include 6-thioguanine, 6-mercaptopurine, and azathioprine, inhibit (suppress) the body's immune system. Thiopurine drugs a... | [
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How to diagnose Singleton Merten syndrome ? | How is Singleton Merten syndrome diagnosed? The diagnosis of Singleton Merten syndrome may be suspected during infancy based upon the identification of characteristic physical findings (i.e., muscle weakness, muscle atrophy, dental abnormalities, and skeletal changes). A diagnosis may be confirmed by a thorough clinica... | [
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What causes Rickets ? | What causes rickets? Rickets is caused by a lack of vitamin D. A child might not get enough vitamin D if he or she: Has dark skin Spends too little time outside Has on sunscreen all the time when out of doors Doesn't eat foods containing vitamin D because of lactose intolerance or a strict vegetarian diet Is breastfed ... | [
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What are the treatments for Kleine-Levin Syndrome ? | There is no definitive treatment for Kleine-Levin syndrome and watchful waiting at home, rather than pharmacotherapy, is most often advised. Stimulant pills, including amphetamines, methylphenidate, and modafinil, are used to treat sleepiness but may increase irritability and will not improve cognitive abnormalities. B... | [
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What are the treatments for benign familial neonatal seizures ? | These resources address the diagnosis or management of BFNS: - Boston Children's Hospital: My Child Has...Seizures and Epilepsy - Epilepsy Action: Benign Neonatal Convulsions - Gene Review: Gene Review: KCNQ2-Related Disorders - Gene Review: Gene Review: KCNQ3-Related Disorders - Genetic Testing Registry: Benign f... | [
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Is CATSPER1-related nonsyndromic male infertility inherited ? | 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 symptoms of the condition. Males with two CATSPER1 g... | [
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Is Achondrogenesis inherited ? | How is achondrogenesis inherited? Achondrogenesis type 1A and type 1B are believed to be inherited in an autosomal recessive pattern. Autosomal recessive inheritance means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one... | [
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Is Netherton syndrome inherited ? | 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. | [
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What are the genetic changes related to eosinophil peroxidase deficiency ? | Mutations in the EPX gene cause eosinophil peroxidase deficiency. The EPX gene provides instructions for making the eosinophil peroxidase protein. During an immune response, activated eosinophils release eosinophil peroxidase at the site of injury. This protein helps form molecules that are highly toxic to bacteria and... | [
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What is (are) caudal regression syndrome ? | Caudal regression syndrome is a disorder that impairs the development of the lower (caudal) half of the body. Affected areas can include the lower back and limbs, the genitourinary tract, and the gastrointestinal tract. In this disorder, the bones of the lower spine (vertebrae) are frequently misshapen or missing, and... | [
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What are the treatments for Chordoma ? | How might a chordoma be treated? Unfortunately, because chordomas are quite rare, the best treatment for these tumors has yet to be determined. The current treatment for chordoma of the clivus often begins with surgery (resection) to remove as much of the tumor as possible. The extent of surgery, or the amount of tum... | [
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How many people are affected by cartilage-hair hypoplasia ? | Cartilage-hair hypoplasia occurs most often in the Old Order Amish population, where it affects about 1 in 1,300 newborns. In people of Finnish descent, its incidence is approximately 1 in 20,000. Outside of these populations, the condition is rare, and its specific incidence is not known. It has been reported in indiv... | [
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What is (are) short-chain acyl-CoA dehydrogenase deficiency ? | Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a condition that prevents the body from converting certain fats into energy, especially during periods without food (fasting). Signs and symptoms of SCAD deficiency may appear during infancy or early childhood and can include vomiting, low blood sugar (hypoglycem... | [
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What are the symptoms of Laurin-Sandrow syndrome ? | What are the signs and symptoms of Laurin-Sandrow syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Laurin-Sandrow 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 Medic... | [
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what research (or clinical trials) is being done for Machado-Joseph Disease ? | The National Institute of Neurological Disorders and Stroke (NINDS) conducts MJD research in its laboratories at the National Institutes of Health (NIH) and also supports MJD research through grants to major medical institutions across the country. Ongoing research includes studies to better understand the genetic, mol... | [
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What is (are) globozoospermia ? | Globozoospermia is a condition that affects only males. It is characterized by abnormal sperm and leads to an inability to father biological children (infertility). Normal sperm cells have an oval-shaped head with a cap-like covering called the acrosome. The acrosome contains enzymes that break down the outer membrane... | [
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What are the symptoms of Achondroplasia and Swiss type agammaglobulinemia ? | What are the signs and symptoms of Achondroplasia and Swiss type agammaglobulinemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Achondroplasia and Swiss type agammaglobulinemia. If the information is available, the table below includes how often the symptom is seen in people with... | [
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How to prevent Ovarian Epithelial, Fallopian Tube, and Primary Peritoneal Cancer ? | Women with an increased risk of ovarian cancer may consider surgery to lessen the risk. Some women who have an increased risk of ovarian cancer may choose to have a risk-reducing oophorectomy (the removal of healthy ovaries so that cancer cannot grow in them). In high-risk women, this procedure has been shown to greatl... | [
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What are the genetic changes related to multiple mitochondrial dysfunctions syndrome ? | Multiple mitochondrial dysfunctions syndrome can be caused by mutations in the NFU1 or BOLA3 gene. The proteins produced from each of these genes appear to be involved in the formation of molecules called iron-sulfur (Fe-S) clusters or in the attachment of these clusters to other proteins. Certain proteins require atta... | [
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What are the symptoms of Hypertrichosis congenital generalized X-linked ? | What are the signs and symptoms of Hypertrichosis congenital generalized X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypertrichosis congenital generalized X-linked. If the information is available, the table below includes how often the symptom is seen in people with thi... | [
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What causes Rotor syndrome ? | What causes Rotor syndrome? Rotor syndrome is an inherited disorder caused by having mutations in both the SLCO1B1 and SLCO1B3 genes. These genes provide instructions for making proteins that are found in liver cells, where they transport bilirubin and other substances from the blood into the liver so that they can be ... | [
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Is deoxyguanosine kinase deficiency inherited ? | Deoxyguanosine kinase deficiency is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. In most cases, the parents of an individual with this condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. | [
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What are the genetic changes related to deafness-dystonia-optic neuronopathy syndrome ? | Mutations in the TIMM8A gene cause DDON syndrome. The protein produced from this gene is found inside the energy-producing centers of cells (mitochondria). The TIMM8A protein forms a complex (a group of proteins that work together) with a very similar protein called TIMM13. This complex functions by transporting other ... | [
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What is the outlook for Childhood Extracranial Germ Cell Tumors ? | Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - The type of germ cell tumor. - Where the tumor first began to grow. - The stage of the cancer (whether it has spread to nearby areas or to other ... | [
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Is Saethre-Chotzen syndrome inherited ? | This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases may result from new mutations in the gene. These cases occur in people wi... | [
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What are the symptoms of Tracheobronchomalacia ? | What are the signs and symptoms of tracheobronchomalacia? Tracheobronchomalacia (TBM) is a condition that occurs when the walls of the airway (specifically the trachea and bronchi) are weak. This can cause the airway to become narrow or collapse. There are two forms of TBM. Primary TBM (also called congenital TBM) typi... | [
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What are the symptoms of Adult-onset vitelliform macular dystrophy ? | What are the signs and symptoms of Adult-onset vitelliform macular dystrophy? Signs and symptoms of adult-onset vitelliform macular dystrophy typically begin during mid-adulthood, in the fourth or fifth decade of life. At the time of diagnosis, individuals may have minimal visual symptoms (such as mild blurring) or mil... | [
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What are the symptoms of Familial hypocalciuric hypercalcemia type 1 ? | What are the signs and symptoms of Familial hypocalciuric hypercalcemia type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial hypocalciuric hypercalcemia type 1. If the information is available, the table below includes how often the symptom is seen in people with this cond... | [
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What is (are) COG5-congenital disorder of glycosylation ? | COG5-congenital disorder of glycosylation (COG5-CDG, formerly known as congenital disorder of glycosylation type IIi) is an inherited condition that causes neurological problems and other abnormalities. The pattern and severity of this disorder's signs and symptoms vary among affected individuals. Individuals with COG... | [
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What are the treatments for Eosinophilic enteropathy ? | How might eosinophilic enteropathy be treated? There is no "cure" for eosinophilic enteropathy, but treatment can help alleviate symptoms and prevent further damage to the gastrointestinal tract. Treatment of eosinophilic enteropathy varies based on the location of the eosinophils, severity of symptoms, and other medic... | [
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Is congenital hemidysplasia with ichthyosiform erythroderma and limb defects inherited ? | This condition has an X-linked dominant pattern of inheritance. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. The inheritance is dominant if one copy of the altered gene in each cell is sufficient to cause the condition. ... | [
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What is (are) Noonan syndrome 3 ? | Noonan syndrome is a genetic disorder that causes abnormal development of multiple parts of the body. Features of Noonan syndrome may include a distinctive facial appearance, short stature, a broad or webbed neck, congenital heart defects, bleeding problems, skeletal malformations, and developmental delay. Noonan syndr... | [
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What is (are) Meningitis ? | Meningitis is inflammation of the thin tissue that surrounds the brain and spinal cord, called the meninges. There are several types of meningitis. The most common is viral meningitis, which you get when a virus enters the body through the nose or mouth and travels to the brain. Bacterial meningitis is rare, but can be... | [
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How many people are affected by dopamine transporter deficiency syndrome ? | Dopamine transporter deficiency syndrome appears to be a rare disease; only about 20 affected individuals have been described in the medical literature. Researchers believe that the condition is probably underdiagnosed because its signs and symptoms overlap with cerebral palsy and other movement disorders. | [
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What causes Colpocephaly ? | What causes colpocephaly? Researchers believe that the disorder results from some kind of disturbance in the fetal environment that occurs between the second and sixth months of pregnancy. The underlying causes of colpocephaly are multiple and diverse. Causes include chromosomal anomalies such as trisomy-8 mosaicism an... | [
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What is (are) Carotid Artery Disease ? | Your carotid arteries are two large blood vessels in your neck. They supply your brain with blood. If you have carotid artery disease, the arteries become narrow, usually because of atherosclerosis. This is the buildup of cholesterol and other material in an artery. If a blood clot sticks in the narrowed arteries, bloo... | [
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What are the treatments for immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome ? | These resources address the diagnosis or management of IPEX syndrome: - Gene Review: Gene Review: IPEX Syndrome - Genetic Testing Registry: Insulin-dependent diabetes mellitus secretory diarrhea syndrome - Seattle Children's Hospital These resources from MedlinePlus offer information about the diagnosis and manage... | [
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What are the genetic changes related to retinitis pigmentosa ? | Mutations in more than 60 genes are known to cause nonsyndromic retinitis pigmentosa. More than 20 of these genes are associated with the autosomal dominant form of the disorder. Mutations in the RHO gene are the most common cause of autosomal dominant retinitis pigmentosa, accounting for 20 to 30 percent of all cases.... | [
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What is (are) Fryns syndrome ? | Fryns syndrome is a condition that affects the development of many parts of the body. The features of this disorder vary widely among affected individuals and overlap with the signs and symptoms of several other disorders. These factors can make Fryns syndrome difficult to diagnose. Most people with Fryns syndrome hav... | [
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What is (are) West Nile Virus ? | West Nile virus (WNV) is an infectious disease that first appeared in the United States in 1999. Infected mosquitoes spread the virus that causes it. People who get WNV usually have no symptoms or mild symptoms. The symptoms include a fever, headache, body aches, skin rash, and swollen lymph glands. They can last a few... | [
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How to diagnose Urinary Tract Infections in Children ? | Once the infection has cleared, more tests may be recommended to check for abnormalities in the urinary tract. Repeated infections in an abnormal urinary tract may cause kidney damage. The kinds of tests ordered will depend on the child and the type of urinary infection. Because no single test can tell everything about... | [
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What is (are) mannose-binding lectin deficiency ? | Mannose-binding lectin deficiency is a condition that affects the immune system. People with this condition have low levels of an immune system protein called mannose-binding lectin in their blood. These individuals are prone to recurrent infections, including infections of the upper respiratory tract and other body sy... | [
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What are the treatments for COG5-congenital disorder of glycosylation ? | These resources address the diagnosis or management of COG5-CDG: - Gene Review: Gene Review: Congenital Disorders of N-Linked Glycosylation Pathway Overview - Genetic Testing Registry: Congenital disorder of glycosylation type 2i These resources from MedlinePlus offer information about the diagnosis and management ... | [
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How to prevent Atrial Fibrillation ? | Following a healthy lifestyle and taking steps to lower your risk for heart disease may help you prevent atrial fibrillation (AF). These steps include:
Following a heart healthy diet that's low in saturated fat, trans fat, and cholesterol. A healthy diet includes a variety of whole grains, fruits, and ... | [
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What is (are) Polymyositis ? | Polymyositis is one of a group of muscle diseases known as the inflammatory myopathies, which are characterized by chronic muscle inflammation accompanied by muscle weakness. Polymyositis affects skeletal muscles (those involved with making movement) on both sides of the body. It is rarely seen in persons under age 18;... | [
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What are the symptoms of Ehlers-Danlos syndrome ? | What are the signs and symptoms of Ehlers-Danlos syndrome? There are six major types of Ehlers-Danlos syndrome (EDS). Although there is significant overlap in associated features, the subtypes are classified based on their unique signs and symptoms: Hypermobility type - characterized primarily by joint hypermobility af... | [
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What are the genetic changes related to Legg-Calv-Perthes disease ? | Legg-Calv-Perthes disease is usually not caused by genetic factors. The cause in these cases is unknown. In a small percentage of cases, mutations in the COL2A1 gene cause the bone abnormalities characteristic of Legg-Calv-Perthes disease. The COL2A1 gene provides instructions for making a protein that forms type II co... | [
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What is (are) familial hypertrophic cardiomyopathy ? | Familial hypertrophic cardiomyopathy is a heart condition characterized by thickening (hypertrophy) of the heart (cardiac) muscle. Thickening usually occurs in the interventricular septum, which is the muscular wall that separates the lower left chamber of the heart (the left ventricle) from the lower right chamber (th... | [
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What is (are) Tourette syndrome ? | Tourette syndrome is a complex neurological disorder that is characterized by repetitive, sudden, uncontrolled (involuntary) movements and sounds (vocalizations) called tics. Tourette syndrome is named for Georges Gilles de la Tourette, who first described this disorder in 1885. A variety of genetic and environmental f... | [
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What are the treatments for Leigh's Disease ? | The most common treatment for Leigh's disease is thiamine or Vitamin B1. Oral sodium bicarbonate or sodium citrate may also be prescribed to manage lactic acidosis. Researchers are currently testing dichloroacetate to establish its effectiveness in treating lactic acidosis. In individuals who have the X-linked form of ... | [
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What are the treatments for Ovarian Epithelial, Fallopian Tube, and Primary Peritoneal Cancer ? | Key Points
- There are different types of treatment for patients with ovarian epithelial cancer. - Three kinds of standard treatment are used. - Surgery - Chemotherapy - Targeted therapy - New types of treatment are being tested in clinical trials. - Radiation the... | [
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What is (are) Balance Problems ? | A balance disorder is a disturbance of the body systems controlling balance. This disturbance can make people feel dizzy, unsteady, or as if they were spinning. Balance disorders are a common cause of falls and fall-related injuries, such as hip fractures. | [
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What are the symptoms of Intraocular (Uveal) Melanoma ? | Signs of intraocular melanoma include blurred vision or a dark spot on the iris. Intraocular melanoma may not cause early signs or symptoms. It is sometimes found during a regular eye exam when the doctor dilates the pupil and looks into the eye. Signs and symptoms may be caused by intraocular melanoma or by other cond... | [
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What are the treatments for Childhood Hodgkin Lymphoma ? | Key Points
- There are different types of treatment for children with Hodgkin lymphoma. - Children with Hodgkin lymphoma should have their treatment planned by a team of health care providers who are experts in treating childhood cancer. - Children and adolescents may have treatment-related s... | [
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Who is at risk for Marburg hemorrhagic fever (Marburg HF)? ? | It is unknown how Marburg virus first transmits from its animal host to humans; however, for the 2 cases in tourists visiting Uganda in 2008, unprotected contact with infected bat feces or aerosols are the most likely routes of infection.
After this initial crossover of virus from host animal to humans, transmissio... | [
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What are the symptoms of Dystonia 5, Dopa-responsive type ? | What are the signs and symptoms of Dystonia 5, Dopa-responsive type? The Human Phenotype Ontology provides the following list of signs and symptoms for Dystonia 5, Dopa-responsive 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... | [
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What is (are) Sudden Infant Death Syndrome ? | Sudden infant death syndrome (SIDS) is the sudden, unexplained death of an infant younger than one year old. Some people call SIDS "crib death" because many babies who die of SIDS are found in their cribs. SIDS is the leading cause of death in children between one month and one year old. Most SIDS deaths occur when... | [
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What are the stages of Prostate Cancer ? | Key Points
- After prostate cancer has been diagnosed, tests are done to find out if cancer cells have spread within the prostate or to other parts of the body. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. - The... | [
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Is Neurofibromatosis type 1 inherited ? | How is neurofibromatosis type 1 inherited? Neurofibromatosis type 1 (NF1) is inherited in an autosomal dominant manner. This means that a person only needs a change (mutation) in one copy of the responsible gene in each cell to have a genetic predisposition to the tumors associated with NF1. In approximately half of ca... | [
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What to do for Cirrhosis ? | A healthy diet is important in all stages of cirrhosis because malnutrition is common in people with this disease. Malnutrition is a condition that occurs when the body does not get enough nutrients. Cirrhosis may lead to malnutrition because it can cause
- people to eat less because of symptoms such a... | [
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What are the symptoms of Dentin dysplasia, type 1 ? | What are the signs and symptoms of Dentin dysplasia, type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Dentin dysplasia, type 1. 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 Med... | [
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Do you have information about Statins | Summary : Statins are drugs used to lower cholesterol. Your body needs some cholesterol to work properly. But if you have too much in your blood, it can stick to the walls of your arteries and narrow or even block them. If diet and exercise don't reduce your cholesterol levels, you may need to take medicine. Often, ... | [
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What are the treatments for tyrosinemia ? | These resources address the diagnosis or management of tyrosinemia: - Baby's First Test: Tyrosinemia, Type I - Baby's First Test: Tyrosinemia, Type II - Baby's First Test: Tyrosinemia, Type III - Gene Review: Gene Review: Tyrosinemia Type I - Genetic Testing Registry: 4-Hydroxyphenylpyruvate dioxygenase deficiency... | [
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How many people are affected by multiple endocrine neoplasia ? | Multiple endocrine neoplasia type 1 affects about 1 in 30,000 people; multiple endocrine neoplasia type 2 affects an estimated 1 in 35,000 people. Among the subtypes of type 2, type 2A is the most common form, followed by FMTC. Type 2B is relatively uncommon, accounting for about 5 percent of all cases of type 2. The p... | [
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what research (or clinical trials) is being done for Hereditary Neuropathies ? | The NINDS supports research on neuromuscular disorders, such as hereditary neuropathies, aimed at learning more about these disorders and finding ways to prevent and treat them. | [
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How many people are affected by Costello syndrome ? | This condition is very rare; it probably affects 200 to 300 people worldwide. Reported estimates of Costello syndrome prevalence range from 1 in 300,000 to 1 in 1.25 million people. | [
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