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What to do for Hyperthyroidism ?
Experts recommend that people eat a balanced diet to obtain most nutrients. More information about diet and nutrition is provided by the National Agricultural Library at www.nutrition.gov. Dietary Supplements Iodine is an essential mineral for the thyroid. However, people with autoimmu...
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What are the symptoms of Ameloonychohypohidrotic syndrome ?
What are the signs and symptoms of Ameloonychohypohidrotic syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ameloonychohypohidrotic 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...
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Is Fibrodysplasia ossificans progressiva inherited ?
How is fibrodysplasia ossificans progressiva inherited? Fibrodysplasia ossificans progressiva is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases of fibrodysplasia ossificans progressiva result from new mutations in the gen...
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What are the treatments for Dyslexia ?
The main focus of treatment should be on the specific learning problems of affected individuals. The usual course is to modify teaching methods and the educational environment to meet the specific needs of the individual with dyslexia.
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What are the symptoms of Cardioskeletal syndrome Kuwaiti type ?
What are the signs and symptoms of Cardioskeletal syndrome Kuwaiti type? The Human Phenotype Ontology provides the following list of signs and symptoms for Cardioskeletal syndrome Kuwaiti type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can...
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Who is at risk for National Hormone and Pituitary Program (NHPP): Information for People Treated with Pituitary Human Growth Hormone (Comprehensive Report)? ?
No one can say what an individual person's risk is. Of the approximately 7,700 people who received NHPP pituitary hGH, 29 people got CJD. The two things that seem to be connected with getting CJD after pituitary hGH treatment are 1. How long a person was treated: - In the United States...
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What are the treatments for Zika virus infection ?
How might a Zika virus infection be treated? There is no vaccine to prevent Zika virus infections, nor is there a specific medicine to treat Zika. Individuals infected with the Zika virus should get plenty of rest, drink fluids, and take medications such as acetaminophen for pain. Aspirin and other nonsteroidal anti-in...
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What is (are) Juvenile Huntington disease ?
Juvenile Huntington disease (HD) is a less common, early-onset form of Huntington disease that begins in childhood or adolescence. It is also a progressive disorder that causes the breakdown of brain cells in certain areas of the brain. This results in uncontrolled movements, loss of intellectual abilities, and emotion...
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Is Alstrm 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 is (are) Diabetes in Children and Teens ?
Until recently, the common type of diabetes in children and teens was type 1. It was called juvenile diabetes. With Type 1 diabetes, the pancreas does not make insulin. Insulin is a hormone that helps glucose,or sugar, get into your cells to give them energy. Without insulin, too much sugar stays in the blood. But n...
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What is (are) Restless legs syndrome ?
Restless legs syndrome is a neurological condition that causes an irresistible urge to move the legs. The movement is triggered by strange or uncomfortable feelings, which occur mostly while the affected person is sitting or lying down and are worse at night. Movement (i.e. kicking, stretching, rubbing, or pacing) make...
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What are the treatments for Juvenile Huntington disease ?
How might Juvenile Huntington disease (HD) be treated? Physicians may prescribe a number of medications to help control emotional and movement problems associated with HD. It is important to remember however, that while medicines may help keep these clinical symptoms under control, there is no treatment to stop or reve...
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What are the treatments for aminoacylase 1 deficiency ?
These resources address the diagnosis or management of aminoacylase 1 deficiency: - Genetic Testing Registry: Aminoacylase 1 deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation...
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What are the symptoms of Dermoids of cornea ?
What are the signs and symptoms of Dermoids of cornea? The Human Phenotype Ontology provides the following list of signs and symptoms for Dermoids of cornea. 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 are the symptoms of Bartter syndrome antenatal type 2 ?
What are the signs and symptoms of Bartter syndrome antenatal type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Bartter syndrome antenatal 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 t...
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Do you have information about Hazardous Waste
Summary : Even if you use them properly, many chemicals can still harm human health and the environment. When you throw these substances away, they become hazardous waste. Some hazardous wastes come from products in our homes. Our garbage can include such hazardous wastes as old batteries, bug spray cans and paint thin...
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What are the genetic changes related to leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation ?
LBSL is caused by mutations in the DARS2 gene, which provides instructions for making an enzyme called mitochondrial aspartyl-tRNA synthetase. This enzyme is important in the production (synthesis) of proteins in cellular structures called mitochondria, the energy-producing centers in cells. While most protein synthesi...
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What are the treatments for VLDLR-associated cerebellar hypoplasia ?
These resources address the diagnosis or management of VLDLR-associated cerebellar hypoplasia: - Gene Review: Gene Review: Hereditary Ataxia Overview - Gene Review: Gene Review: VLDLR-Associated Cerebellar Hypoplasia - Genetic Testing Registry: Dysequilibrium syndrome These resources from MedlinePlus offer informa...
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What is (are) Diabetes ?
Diabetes means your blood glucose (often called blood sugar) is too high. Your blood always has some glucose in it because your body needs glucose for energy to keep you going. But too much glucose in the blood isn't good for your health. Glucose comes from the food you eat and is also made in your liver and muscles. Y...
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What are the symptoms of Nodular nonsuppurative panniculitis ?
What are the signs and symptoms of Nodular nonsuppurative panniculitis? The Human Phenotype Ontology provides the following list of signs and symptoms for Nodular nonsuppurative panniculitis. 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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Is myopathy with deficiency of iron-sulfur cluster assembly enzyme 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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Is isolated Duane retraction syndrome inherited ?
Isolated Duane retraction syndrome usually occurs in people with no history of the disorder in their family. These cases are described as simplex, and their genetic cause is unknown. Less commonly, isolated Duane retraction syndrome can run in families. Familial cases most often have an autosomal dominant pattern of i...
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Is hereditary hemorrhagic telangiectasia 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.
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Who is at risk for Pyelonephritis: Kidney Infection? ?
People most at risk for pyelonephritis are those who have a bladder infection and those with a structural, or anatomic, problem in the urinary tract. Urine normally flows only in one directionfrom the kidneys to the bladder. However, the flow of urine may be blocked in people with a structural defect of the urinary tra...
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What is (are) Uterine Fibroids ?
Uterine fibroids are the most common benign tumors in women of childbearing age. Fibroids are made of muscle cells and other tissues that grow in and around the wall of the uterus, or womb. The cause of fibroids is unknown. Risk factors include being African American or being overweight. Many women with fibroids hav...
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What is (are) Toxoplasmosis ?
Toxoplasmosis is a disease caused by the parasite Toxoplasma gondii. More than 60 million people in the U.S. have the parasite. Most of them don't get sick. But the parasite causes serious problems for some people. These include people with weak immune systems and babies whose mothers become infected for the first time...
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What is (are) Ovarian Epithelial, Fallopian Tube, and Primary Peritoneal Cancer ?
Key Points - Ovarian epithelial cancer, fallopian tube cancer, and primary peritoneal cancer are diseases in which malignant (cancer) cells form in the tissue covering the ovary or lining the fallopian tube or peritoneum. - Ovarian epithelial cancer, fallopian tube cancer, and primary peritoneal...
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Is Klinefelter syndrome inherited ?
Klinefelter syndrome and its variants are not inherited; these chromosomal changes usually occur as random events during the formation of reproductive cells (eggs and sperm) in a parent. An error in cell division called nondisjunction results in a reproductive cell with an abnormal number of chromosomes. For example, a...
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What are the treatments for Chronic hiccups ?
How might chronic hiccups be treated? Treatment for chronic hiccups often varies based on the underlying cause. In many cases, medications can be prescribed to treat chronic hiccups. These may include: Tranquilizers such as chlorpromazine and haloperidol Muscle relaxants Anticonvulsant agents including phenytoin, valp...
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What are the symptoms of Steatocystoma multiplex with natal teeth ?
What are the signs and symptoms of Steatocystoma multiplex with natal teeth? The Human Phenotype Ontology provides the following list of signs and symptoms for Steatocystoma multiplex with natal teeth. If the information is available, the table below includes how often the symptom is seen in people with this condition....
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How many people are affected by Mayer-Rokitansky-Kster-Hauser syndrome ?
MRKH syndrome affects approximately 1 in 4,500 newborn girls.
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What are the treatments for Leukemia ?
Standard treatments for leukemia include chemotherapy, biological therapy, radiation therapy, and immunotherapy. Some patients receive a combination of treatments. Learn more about treatments for acute myeloid leukemia. Learn more about treatments for chronic lymphocytic leukemia.
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What causes What I need to know about Cirrhosis ?
Causes of cirrhosis include - heavy alcohol use - some drugs, medicines, and harmful chemicals - infections - chronic hepatitis B, C, or Dviral infections that attack the liver - autoimmune hepatitis, which causes the bodys immune system to destroy liver cells - nonalcoholic fatty liver disease, w...
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What are the treatments for Acromegaly ?
No single treatment is effective for all patients. Treatment should be individualized, and often combined, depending on patient characteristics such as age and tumor size. If the tumor has not yet invaded surrounding nonpituitary tissues, removal of the pituitary adenoma by an experienced neurosurgeon ...
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What are the treatments for Childhood Acute Lymphoblastic Leukemia ?
Key Points - There are different types of treatment for childhood acute lymphoblastic leukemia (ALL). - Children with ALL should have their treatment planned by a team of doctors who are experts in treating childhood leukemia. - Children and adolescents may have treatment-related side effects...
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How many people are affected by complement factor I deficiency ?
Complement factor I deficiency is a rare disorder; its exact prevalence is unknown. At least 38 cases have been reported in the medical literature.
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What to do for Simple Kidney Cysts ?
#NAME?
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What are the treatments for pseudohypoaldosteronism type 2 ?
These resources address the diagnosis or management of pseudohypoaldosteronism type 2: - Gene Review: Gene Review: Pseudohypoaldosteronism Type II - Genetic Testing Registry: Pseudohypoaldosteronism, type 2 These resources from MedlinePlus offer information about the diagnosis and management of various health condi...
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What are the symptoms of I cell disease ?
What are the signs and symptoms of I cell disease? The Human Phenotype Ontology provides the following list of signs and symptoms for I cell 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 l...
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What is (are) Lupus ?
If you have lupus, your immune system attacks healthy cells and tissues by mistake. This can damage your joints, skin, blood vessels and organs. There are many kinds of lupus. The most common type, systemic lupus erythematosus, affects many parts of the body. Discoid lupus causes a rash that doesn't go away. Subacute c...
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What are the treatments for alkaptonuria ?
These resources address the diagnosis or management of alkaptonuria: - Gene Review: Gene Review: Alkaptonuria - Genetic Testing Registry: Alkaptonuria - MedlinePlus Encyclopedia: Alkaptonuria These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diag...
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What are the symptoms of Primary Ciliary Dyskinesia ?
Primary ciliary dyskinesia (PCD) mainly affects the sinuses, ears, and lungs. One sign that you might have PCD is if you have chronic (ongoing) infections in one or more of these areas. Common signs, symptoms, and complications linked to PCD include the following: Sinuses: - Chronic nasal congestion ...
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What are the genetic changes related to cyclic neutropenia ?
Mutations in the ELANE gene cause cyclic neutropenia. The ELANE gene provides instructions for making a protein called neutrophil elastase, which is found in neutrophils. When the body starts an immune response to fight an infection, neutrophils release neutrophil elastase. This protein then modifies the function of ce...
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How many people are affected by familial pityriasis rubra pilaris ?
Familial pityriasis rubra pilaris is a rare condition. Its incidence is unknown, although the familial form appears to be the least common type of pityriasis rubra pilaris.
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What are the symptoms of Insulin-like growth factor I deficiency ?
What are the signs and symptoms of Insulin-like growth factor I deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Insulin-like growth factor I deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. Y...
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What is (are) Breast Cancer ?
When cancer spreads from its original location in the breast to another part of the body such as the brain, it is called metastatic breast cancer, not brain cancer. Doctors sometimes call this "distant" disease.
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What are the genetic changes related to ataxia-telangiectasia ?
Mutations in the ATM gene cause ataxia-telangiectasia. The ATM gene provides instructions for making a protein that helps control cell division and is involved in DNA repair. This protein plays an important role in the normal development and activity of several body systems, including the nervous system and immune syst...
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What are the treatments for ARDS ?
ARDS is treated in a hospital's intensive care unit. Current treatment approaches focus on improving blood oxygen levels and providing supportive care. Doctors also will try to pinpoint and treat the underlying cause of the condition. Oxygen Therapy One of the main goals of treating AR...
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What is (are) Breast Cancer ?
One definition of cure is being alive and free of breast cancer for 5 years. If the cancer is found early, a woman's chances of survival are better. In fact, nearly 98 percent of women who discover their breast cancer when it is near the site of origin and still small in size are alive 5 years later. However, women who...
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What are the symptoms of Ectrodactyly polydactyly ?
What are the signs and symptoms of Ectrodactyly polydactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Ectrodactyly polydactyly. 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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How many people are affected by paroxysmal nocturnal hemoglobinuria ?
Paroxysmal nocturnal hemoglobinuria is a rare disorder, estimated to affect between 1 and 5 per million people.
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What is (are) Gum Disease ?
If you have gum disease, you're not alone. Many U.S. adults currently have some form of the disease. It ranges from simple gum inflammation, called gingivitis, to serious damage to the tissue and bone supporting the teeth. In the worst cases, you can lose teeth. In gingivitis, the gums become red and swollen. They c...
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What are the symptoms of Mucopolysaccharidosis type IVA ?
What are the signs and symptoms of Mucopolysaccharidosis type IVA? The Human Phenotype Ontology provides the following list of signs and symptoms for Mucopolysaccharidosis type IVA. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Med...
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What is (are) What I need to know about Kidney Failure and How Its Treated ?
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...
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Is pontocerebellar hypoplasia 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 is (are) Fatal familial insomnia ?
Fatal familial insomnia (FFI) is an inherited prion disease that affects the brain and other parts of the nervous system. Prion diseases, also known as transmissible spongiform encephalopathies (TSE), are a group of rare neurodegenerative conditions that occur when abnormal proteins clump together and accumulate in the...
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Do you have information about Hospice Care
Summary : Hospice care is end-of-life care. A team of health care professionals and volunteers provides it. They give medical, psychological, and spiritual support. The goal of the care is to help people who are dying have peace, comfort, and dignity. The caregivers try to control pain and other symptoms so a person ca...
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What is the outlook for Thoracic Outlet Syndrome ?
The outcome for individuals with TOS varies according to type. The majority of individuals with TOS will improve with exercise and physical therapy. Vascular TOS, and true neurogenic TOS often require surgery to relieve pressure on the affected vessel or nerve.
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What are the treatments for Ohdo syndrome, Maat-Kievit-Brunner type ?
These resources address the diagnosis or management of Ohdo syndrome, Maat-Kievit-Brunner type: - Genetic Testing Registry: Ohdo syndrome, X-linked These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Re...
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What are the treatments for Cryptogenic organizing pneumonia ?
How might cryptogenic organizing pneumonia be treated? The treatment of cryptogenic organizing pneumonia (COP) generally depends on the severity of the condition. For example, people who are mildly affected may simply be monitored as some cases can improve on their own. Unfortunately, the majority of people with COP ha...
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Who is at risk for Diabetes? ?
Here are the risk factors for type 2 diabetes. - being over 45 years of age - being overweight or obese - having a first-degree relative -- a parent, brother, or sister -- with diabetes - being African American, American Indian or Alaska Native, Asian American or Pacific Islander, or Hispanic American/Latino. (Wat...
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What are the symptoms of Leigh syndrome, French Canadian type ?
What are the signs and symptoms of Leigh syndrome, French Canadian type? The Human Phenotype Ontology provides the following list of signs and symptoms for Leigh syndrome, French Canadian type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can...
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What are the symptoms of Ehlers-Danlos syndrome, spondylocheirodysplastic type ?
What are the signs and symptoms of Ehlers-Danlos syndrome, spondylocheirodysplastic type ? The Human Phenotype Ontology provides the following list of signs and symptoms for Ehlers-Danlos syndrome, spondylocheirodysplastic type . If the information is available, the table below includes how often the symptom is seen in...
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Is tarsal-carpal coalition 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.
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What are the symptoms of D-glycericacidemia ?
What are the signs and symptoms of D-glycericacidemia? The Human Phenotype Ontology provides the following list of signs and symptoms for D-glycericacidemia. 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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How to prevent Pernicious Anemia ?
You can't prevent pernicious anemia caused by a lack of intrinsic factor. Without intrinsic factor, you won't be able to absorb vitamin B12 and will develop pernicious anemia. Although uncommon, some people develop pernicious anemia because they don't get enough vitamin B12 in their diets. You can take...
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How to diagnose Warthin tumor ?
How is Warthin tumor diagnosed? A diagnosis of Warthin tumor is often suspected based on the presence of characteristic signs and symptoms. The following tests may then be ordered to confirm the diagnosis and rule out other conditions that cause similar features: X-rays of the salivary gland (called a ptyalogram or sia...
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What are the symptoms of Peyronie disease ?
What are the signs and symptoms of Peyronie disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Peyronie 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 ...
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Do you have information about Veterans and Military Health
Summary : Military service members and veterans face some different health issues than civilians. During combat, the main health concerns are life-threatening injuries. These include - Shrapnel and gunshot wounds - Lost limbs - Head and brain injuries There may also be a risk of health problems from e...
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What is the outlook for Neuroleptic Malignant Syndrome ?
Early identification of and treatment for individuals with neuroleptic malignant syndrome improves outcome. If clinically indicated, a low potency neuroleptic can be reintroduced very slowly when the individual recovers, although there is a risk that the syndrome might recur. Another alternative is to substitute anothe...
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What is (are) Arm Injuries and Disorders ?
Of the 206 bones in your body, 3 of them are in your arm; the humerus, radius and ulna. Your arms are also made up of muscles, joints, tendons and other connective tissue. Injuries to any of these parts of the arm can occur during sports, a fall or an accident. Types of arm injuries include - Tendinitis and b...
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What are the genetic changes related to dystonia 6 ?
Dystonia 6 is caused by mutations in the THAP1 gene. This gene provides instructions for making a protein that is a transcription factor, which means that it attaches (binds) to specific regions of DNA and regulates the activity of other genes. Through this function, it is thought to help control several processes in t...
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What are the symptoms of Hepatocellular carcinoma, childhood ?
What are the signs and symptoms of Hepatocellular carcinoma, childhood? The Human Phenotype Ontology provides the following list of signs and symptoms for Hepatocellular carcinoma, childhood. 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 are the genetic changes related to aniridia ?
Aniridia is caused by mutations in the PAX6 gene. The PAX6 gene provides instructions for making a protein that is involved in the early development of the eyes, brain and spinal cord (central nervous system), and the pancreas. Within the brain, the PAX6 protein is involved in the development of a specialized group of ...
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What are the symptoms of Leber congenital amaurosis 1 ?
What are the signs and symptoms of Leber congenital amaurosis 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Leber congenital amaurosis 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 Medline...
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What are the genetic changes related to gyrate atrophy of the choroid and retina ?
Mutations in the OAT gene cause gyrate atrophy. The OAT gene provides instructions for making the enzyme ornithine aminotransferase. This enzyme is active in the energy-producing centers of cells (mitochondria), where it helps break down a molecule called ornithine. Ornithine is involved in the urea cycle, which proces...
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What are the symptoms of 1q21.1 microdeletion syndrome ?
What are the signs and symptoms of 1q21.1 microdeletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for 1q21.1 microdeletion syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Medli...
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What are the treatments for nonbullous congenital ichthyosiform erythroderma ?
These resources address the diagnosis or management of nonbullous congenital ichthyosiform erythroderma: - Foundation for Ichthyosis and Related Skin Types (FIRST): Treatments - Gene Review: Gene Review: Autosomal Recessive Congenital Ichthyosis - Genetic Testing Registry: Autosomal recessive congenital ichthyosis 2...
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Do you have information about Ultrasound
Summary : Ultrasound is a type of imaging. It uses high-frequency sound waves to look at organs and structures inside the body. Health care professionals use it to view the heart, blood vessels, kidneys, liver, and other organs. During pregnancy, doctors use ultrasound to view the fetus. Unlike x-rays, ultrasound does ...
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What are the symptoms of Microcephaly, corpus callosum dysgenesis and cleft lip-palate ?
What are the signs and symptoms of Microcephaly, corpus callosum dysgenesis and cleft lip-palate? The Human Phenotype Ontology provides the following list of signs and symptoms for Microcephaly, corpus callosum dysgenesis and cleft lip-palate. If the information is available, the table below includes how often the symp...
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What are the symptoms of Chromosome 17q deletion ?
What are the signs and symptoms of Chromosome 17q deletion? The Human Phenotype Ontology provides the following list of signs and symptoms for Chromosome 17q deletion. 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 is (are) malignant hyperthermia ?
Malignant hyperthermia is a severe reaction to particular drugs that are often used during surgery and other invasive procedures. Specifically, this reaction occurs in response to some anesthetic gases, which are used to block the sensation of pain, and with a muscle relaxant that is used to temporarily paralyze a pers...
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What are the symptoms of Cramp-fasciculation syndrome ?
What are the signs and symptoms of cramp-fasciculation syndrome? Cramp-fasciculation syndrome (CFS) is primarily associated with severe muscle cramps and muscle twitches occurring in otherwise healthy people. These symptoms are often triggered by physical activity and may be relieved by stretching exercises and/or mass...
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What is (are) juvenile idiopathic arthritis ?
Juvenile idiopathic arthritis refers to a group of conditions involving joint inflammation (arthritis) that first appears before the age of 16. This condition is an autoimmune disorder, which means that the immune system malfunctions and attacks the body's organs and tissues, in this case the joints. Researchers have ...
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What are the treatments for Tyrosinemia type 1 ?
How might tyrosinemia type 1 be treated? There is currently no cure for tyrosinemia type 1. Individuals with this condition need to be on a special diet restricted in two amino acids, tyrosine and phenylalanine, throughout life. Affected individuals may also be treated with a medication called nitisinone. Early diagnos...
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What is (are) Childhood Astrocytomas ?
Key Points - Childhood astrocytoma is a disease in which benign (noncancer) or malignant (cancer) cells form in the tissues of the brain. - Astrocytomas may be benign (not cancer) or malignant (cancer). - The central nervous system controls many important body functions. - The cause of mos...
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What is (are) ataxia neuropathy spectrum ?
Ataxia neuropathy spectrum is part of a group of conditions called the POLG-related disorders. The conditions in this group feature a range of similar signs and symptoms involving muscle-, nerve-, and brain-related functions. Ataxia neuropathy spectrum now includes the conditions previously called mitochondrial recessi...
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How many people are affected by hereditary folate malabsorption ?
The prevalence of hereditary folate malabsorption is unknown. Approximately 15 affected families have been reported worldwide. Researchers believe that some infants with this disorder may not get diagnosed or treated, particularly in areas where advanced medical care is not available.
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How to diagnose Glioblastoma ?
Is genetic testing available for glioblastoma? Genetic testing is not available for many people with glioblastoma since most of these tumors occur sporadically (by chance) and are not caused by a genetic mutation. However, genetic testing is an option for people with an inherited condition that predisposes to glioblast...
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Is Neuroblastoma inherited ?
Neuroblastoma is sometimes caused by a gene mutation (change) passed from the parent to the child. Gene mutations that increase the risk of neuroblastoma are sometimes inherited (passed from the parent to the child). In children with a gene mutation, neuroblastoma usually occurs at a younger age and more than one tumor...
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How to diagnose Hanhart syndrome ?
How is Hanhart syndrome diagnosed? A diagnosis of Hanhart syndrome is typically made based on the presence of characteristic signs and symptoms. In some cases, the diagnosis may be suspected before birth if concerning features are seen on ultrasound.
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What is (are) Nonseminomatous germ cell tumor ?
Nonseminomatous germ cell tumors are cancerous tumors commonly found in the pineal gland in the brain, in the mediastinum, or in the abdomen. They originate from cells that were meant to form sex cells (i.e., sperm or eggs). They are often large and have a tendency to spread more quickly than the other type of germ cel...
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Is Parkinson disease inherited ?
Most cases of Parkinson disease occur in people with no apparent family history of the disorder. These sporadic cases may not be inherited, or they may have an inheritance pattern that is unknown. Among familial cases of Parkinson disease, the inheritance pattern differs depending on the gene that is altered. If the L...
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What are the treatments for Ehlers-Danlos syndrome, dermatosparaxis type ?
How might Ehlers-Danlos syndrome, dermatosparaxis type be treated? The treatment of Ehlers-Danlos syndrome (EDS), dermatosparaxis type is focused on preventing serious complications and relieving associated signs and symptoms. For example, physical therapy may be recommended in children with moderate to severe joint hy...
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What are the symptoms of Guillain-Barre syndrome ?
What are the signs and symptoms of Guillain-Barre syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Guillain-Barre 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 are the treatments for Steatocystoma multiplex ?
How might steatocystoma multiplex be treated? Treatment options for steatocystoma multiplex are limited and have had varying degrees of success. The most effective treatment method is thought to be removal of cysts by surgery. However, cosmetic concerns, time, cost, and pain need to be considered because affected indi...
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What is (are) Spinal Cord Infarction ?
Spinal cord infarction is a stroke either within the spinal cord or the arteries that supply it. It is caused by arteriosclerosis or a thickening or closing of the major arteries to the spinal cord. Frequently spinal cord infarction is caused by a specific form of arteriosclerosis called atheromatosis, in which a depos...
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What causes Idiopathic juxtafoveal retinal telangiectasia ?
What causes idiopathic juxtafoveal retinal telangiectasia? The exact, underlying cause of idiopathic juxtafoveal retinal telangiectasia (IJT) is not known. IJT has been reported in some siblings (including twins) and other family members of affected people. This suggests there may be a genetic component to IJT; however...
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Who is at risk for Lujo Hemorrhagic Fever (LUHF)? ?
Lujo hemorrhagic fever (LUHF) occurs in southern Africa. The initial case was certainly infected in Zambia. Field workers Field workers are at greatest risk because of increased human contact with the reservoir rodent population. Sexual partners of field workers may be at greater risk as well. In addition to n...
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what research (or clinical trials) is being done for CADASIL ?
The National Institute of Neurological Disorders and Stroke (NINDS) conducts stroke research and clinical trials at its laboratories and clinics at the National Institutes of Health (NIH) and through grants to major medical institutions across the country. Scientists are currently studying different drugs to reduce cog...
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