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information
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What is (are) Malignant peripheral nerve sheath tumor?
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A malignant peripheral nerve sheath tumor (MPNST) is a tumor that develops from nerve tissue. The first symptom of MPNST is a lump or mass that increases in size, sometimes causing pain or a tingling sensation. MPNST is considered an aggressive tumor because there is up to a 65% chance of the tumor regrowing after surgery (a recurrence), and approximately 40% chance of spreading to distant parts of the body (a metastasis), most commonly to the lung. Treatment of MPNST begins with surgery to remove as much of the tumor as possible. Radiation therapy may be used to decrease the chance of a recurrence. Chemotherapy might be used if the whole tumor cannot be removed during surgery, or to treat a metastasis. MPNSTs are quite rare, occurring in 0.001% of the general population. Approximately 25-50% of MPNSTs are associated with a genetic condition known as neurofibromatosis type 1.
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symptoms
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What are the symptoms of Malaria?
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What are the signs and symptoms of Malaria? The Human Phenotype Ontology provides the following list of signs and symptoms for Malaria. 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 - 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.
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information
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What is (are) Huntington's Disease?
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Huntington's disease (HD) is an inherited disease that causes certain nerve cells in the brain to waste away. People are born with the defective gene, but symptoms usually don't appear until middle age. Early symptoms of HD may include uncontrolled movements, clumsiness, and balance problems. Later, HD can take away the ability to walk, talk, and swallow. Some people stop recognizing family members. Others are aware of their environment and are able to express emotions. If one of your parents has Huntington's disease, you have a 50 percent chance of getting it. A blood test can tell you if have the HD gene and will develop the disease. Genetic counseling can help you weigh the risks and benefits of taking the test. There is no cure. Medicines can help manage some of the symptoms, but cannot slow down or stop the disease. NIH: National Institute of Neurological Disorders and Stroke.
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information
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What is (are) Parasites - Paragonimiasis (also known as Paragonimus Infection)?
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Frequently Asked Queestions (FAQs).
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information
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What is (are) Linear scleroderma?
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Linear scleroderma is one sub-type of localized scleroderma, most commonly occurring in childhood. It is characterized by abnormalities of the skin and subcutaneous tissues that often follow a dermatomal distribution and that are found on one side of the body. Besides the lesion in the face or scalp there are also abnormalities of the muscles, fat tissue and skull. When the face is affected, some strips located on the forehead may be hollow and lead to an appearance termed "en coup de sabre". In most cases, Raynaud's phenomenon is absent. The exact cause is still unknown but may be related to an autoimmune reaction resulting in too much collagen. Management is symptomatic and includes immunosupressant medication. Physical therapy is helpful for the muscle retraction problems.
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genetic changes
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What are the genetic changes related to alpha thalassemia X-linked intellectual disability syndrome?
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Alpha thalassemia X-linked intellectual disability syndrome results from mutations in the ATRX gene. This gene provides instructions for making a protein that plays an essential role in normal development. Although the exact function of the ATRX protein is unknown, studies suggest that it helps regulate the activity (expression) of other genes. Among these genes are HBA1 and HBA2, which are necessary for normal hemoglobin production. Mutations in the ATRX gene change the structure of the ATRX protein, which likely prevents it from effectively regulating gene expression. Reduced activity of the HBA1 and HBA2 genes causes alpha thalassemia. Abnormal expression of other genes, which have not been identified, probably causes developmental delay, distinctive facial features, and the other signs and symptoms of alpha thalassemia X-linked intellectual disability syndrome.
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information
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What is (are) Gallbladder Cancer?
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Key Points - Gallbladder cancer is a disease in which malignant (cancer) cells form in the tissues of the gallbladder. - Being female can increase the risk of developing gallbladder cancer. - Signs and symptoms of gallbladder cancer include jaundice, fever, and pain. - Gallbladder cancer is difficult to detect (find) and diagnose early. - Tests that examine the gallbladder and nearby organs are used to detect (find), diagnose, and stage gallbladder cancer. - Certain factors affect the prognosis (chance of recovery) and treatment options. Gallbladder cancer is a disease in which malignant (cancer) cells form in the tissues of the gallbladder. Gallbladder cancer is a rare disease in which malignant (cancer) cells are found in the tissues of the gallbladder. The gallbladder is a pear-shaped organ that lies just under the liver in the upper abdomen. The gallbladder stores bile, a fluid made by the liver to digest fat. When food is being broken down in the stomach and intestines, bile is released from the gallbladder through a tube called the common bile duct, which connects the gallbladder and liver to the first part of the small intestine. The wall of the gallbladder has 3 main layers of tissue. - Mucosal (inner) layer. - Muscularis (middle, muscle) layer. - Serosal (outer) layer. Between these layers is supporting connective tissue. Primary gallbladder cancer starts in the inner layer and spreads through the outer layers as it grows. Gallbladder cancer is difficult to detect (find) and diagnose early. Gallbladder cancer is difficult to detect and diagnose for the following reasons: - There are no signs or symptoms in the early stages of gallbladder cancer. - The symptoms of gallbladder cancer, when present, are like the symptoms of many other illnesses. - The gallbladder is hidden behind the liver. Gallbladder cancer is sometimes found when the gallbladder is removed for other reasons. Patients with gallstones rarely develop gallbladder cancer.
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inheritance
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Is microphthalmia inherited?
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Isolated microphthalmia is sometimes 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. In some cases, parents of affected individuals have less severe eye abnormalities. When microphthalmia occurs as a feature of a genetic syndrome or chromosomal abnormality, it may cluster in families according to the inheritance pattern for that condition, which may be autosomal recessive or other patterns. Often microphthalmia is not inherited, and there is only one affected individual in a family.
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causes
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What causes Trisomy 17 mosaicism?
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What causes trisomy 17 mosaicism? Trisomy 17 mosaicism can arise due to errors in cell division that occur after conception. For example, at the time of conception, the fetus may actually have trisomy 17 in all of its cells; however, during cell division, some of the cells lose the extra chromosome 17. Alternatively, the fetus may initially have had only two copies of chromosome 17, but due to errors in cell division some of the cells end up with an extra copy of chromosome 17. Either of these two scenarios result in trisomy 17 mosaicism. To read more about trisomy mosaicism, visit the following links from the Medical Genetics Department at the University of British Columbia in Canada. What is mosaicism? How does trisomy mosaicism occur?
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information
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What is (are) Pyridoxine-dependent epilepsy?
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Pyridoxine-dependent epilepsy is a condition that involves seizures beginning in infancy or, in some cases, before birth. Those affected typically experience prolonged seizures lasting several minutes (status epilepticus). These seizures involve muscle rigidity, convulsions, and loss of consciousness (tonic-clonic seizures). Anticonvulsant drugs, which are usually given to control seizures, are ineffective in people with pyridoxine-dependent epilepsy. Instead, people with this type of seizure are medically treated with large daily doses of pyridoxine (a type of vitamin B6 found in food). Mutations in the ALDH7A1 gene cause pyridoxine-dependent epilepsy. This gene is inherited in an autosomal recessive fashion.
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symptoms
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What are the symptoms of Polycystic Kidney Disease?
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An early sign of autosomal recessive PKD is an enlarged kidney, seen in a fetus or an infant using ultrasound. Kidney function is crucial for early physical development, so children with autosomal recessive PKD and decreased kidney function are usually smaller-than-average size, a condition called growth failure. Some people with autosomal recessive PKD do not develop signs or symptoms until later in childhood or even adulthood.
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information
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Do you have information about Kidney Transplantation.
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Summary : A kidney transplant is an operation that places a healthy kidney in your body. The transplanted kidney takes over the work of the two kidneys that failed, so you no longer need dialysis. During a transplant, the surgeon places the new kidney in your lower abdomen and connects the artery and vein of the new kidney to your artery and vein. Often, the new kidney will start making urine as soon as your blood starts flowing through it. But sometimes it takes a few weeks to start working. Many transplanted kidneys come from donors who have died. Some come from a living family member. The wait for a new kidney can be long. If you have a transplant, you must take drugs for the rest of your life, to keep your body from rejecting the new kidney. NIH: National Institute of Diabetes and Digestive and Kidney Diseases.
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genetic changes
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What are the genetic changes related to microvillus inclusion disease?
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Mutations in the MYO5B gene cause microvillus inclusion disease. The MYO5B gene provides instructions for making a protein called myosin Vb. This protein helps to determine the position of various components within cells (cell polarity). Myosin Vb also plays a role in moving components from the cell membrane to the interior of the cell for recycling. MYO5B gene mutations that cause microvillus inclusion disease result in a decrease or absence of myosin Vb function. In cells that line the small intestine (enterocytes), a lack of myosin Vb function changes the cell polarity. As a result, enterocytes cannot properly form structures called microvilli, which normally project like small fingers from the surface of the cells and absorb nutrients and fluids from food as it passes through the intestine. Inside affected enterocytes, small clumps of abnormal microvilli mix with misplaced digestive proteins to form microvillus inclusions, which contribute to the dysfunction of enterocytes. Disorganized enterocytes with poorly formed microvilli reduce the intestine's ability to take in nutrients. The inability to absorb nutrients and fluids during digestion leads to recurrent diarrhea, malnutrition, and dehydration in individuals with microvillus inclusion disease. Some people with the signs and symptoms of microvillus inclusion disease do not have mutations in the MYO5B gene. These cases may be variants of microvillus inclusion disease. Studies suggest that mutations in other genes can cause these cases, but the causes are usually unknown.
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susceptibility
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Who is at risk for Hypotension??
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Hypotension can affect people of all ages. However, people in certain age groups are more likely to have certain types of hypotension. Older adults are more likely to have orthostatic and postprandial hypotension. Children and young adults are more likely to have neurally mediated hypotension. People who take certain medicinessuch as diuretics ("water pills") or other high blood pressure medicinesare at increased risk for hypotension. Certain conditions also increase the risk for hypotension. Examples include central nervous system disorders (such as Parkinson's disease) and some heart conditions. Other risk factors for hypotension include being immobile (not being able to move around very much) for long periods, being out in the heat for a long time, and pregnancy. Hypotension during pregnancy is normal and usually goes away after birth.
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research
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what research (or clinical trials) is being done for Klippel-Trenaunay Syndrome (KTS)?
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The NINDS supports research on congenital disorders such as KTS with the goal of finding new means to treat and prevent them.
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inheritance
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Is amelogenesis imperfecta inherited?
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Amelogenesis imperfecta can have different inheritance patterns depending on the gene that is altered. Many cases are caused by mutations in the FAM83H gene and are inherited in an autosomal dominant pattern. This type of inheritance means one copy of the altered gene in each cell is sufficient to cause the disorder. Some cases caused by mutations in the ENAM gene also have an autosomal dominant inheritance pattern. Amelogenesis imperfecta can also be inherited in an autosomal recessive pattern; this form of the disorder can result from mutations in the ENAM or MMP20 gene. Autosomal recessive inheritance means two copies of the gene in each cell are altered. 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. About 5 percent of amelogenesis imperfecta cases are caused by mutations in the AMELX gene and are inherited in an X-linked pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. In most cases, males with X-linked amelogenesis imperfecta experience more severe dental abnormalities than females with this form of this condition. Other cases of amelogenesis imperfecta result from new gene mutations and occur in people with no history of the disorder in their family.
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genetic changes
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What are the genetic changes related to cyclic neutropenia?
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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 certain cells and proteins to help fight the infection. ELANE gene mutations that cause cyclic neutropenia lead to an abnormal neutrophil elastase protein that seems to retain some of its function. However, neutrophils that produce abnormal neutrophil elastase protein appear to have a shorter lifespan than normal neutrophils. The shorter neutrophil lifespan is thought to be responsible for the cyclic nature of this condition. When the affected neutrophils die early, there is a period in which there is a shortage of neutrophils because it takes time for the body to replenish its supply.
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exams and tests
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How to diagnose Hemorrhoids?
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The doctor will examine the anus and rectum to determine whether a person has hemorrhoids. Hemorrhoid symptoms are similar to the symptoms of other anorectal problems, such as fissures, abscesses, warts, and polyps. The doctor will perform a physical exam to look for visible hemorrhoids. A digital rectal exam with a gloved, lubricated finger and an anoscopea hollow, lighted tubemay be performed to view the rectum. A thorough evaluation and proper diagnosis by a doctor is important any time a person notices bleeding from the rectum or blood in the stool. Bleeding may be a symptom of other digestive diseases, including colorectal cancer. Additional exams may be done to rule out other causes of bleeding, especially in people age 40 or older: - Colonoscopy. A flexible, lighted tube called a colonoscope is inserted through the anus, the rectum, and the upper part of the large intestine, called the colon. The colonoscope transmits images of the inside of the rectum and the entire colon. - Sigmoidoscopy. This procedure is similar to colonoscopy, but it uses a shorter tube called a sigmoidoscope and transmits images of the rectum and the sigmoid colon, the lower portion of the colon that empties into the rectum. - Barium enema x ray. A contrast material called barium is inserted into the colon to make the colon more visible in x ray pictures.
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frequency
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How many people are affected by Alpers-Huttenlocher syndrome?
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The prevalence of Alpers-Huttenlocher syndrome is approximately 1 in 100,000 individuals.
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information
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What is (are) Progressive Multifocal Leukoencephalopathy?
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Progressive multifocal leukoencephalopathy (PML) is a disease of the white matter of the brain, caused by a virus infection that targets cells that make myelin--the material that insulates nerve cells (neurons). Polyomavirus JC (often called JC virus) is carried by a majority of people and is harmless except among those with lowered immune defenses. The disease is rare and occurs in patients undergoing chronic corticosteroid or immunosuppressive therapy for organ transplant, or individuals with cancer (such as Hodgkins disease or lymphoma). Individuals with autoimmune conditions such as multiple sclerosis, rheumatoid arthritis, and systemic lupus erythematosis -- some of whom are treated with biological therapies that allow JC virus reactivation -- are at risk for PML as well. PML is most common among individuals with HIV-1 infection / acquired immune deficiency syndrome (AIDS). Studies estimate that prior to effective antiretroviral therapy, as many as 5 percent of persons infected with HIV-1 eventually develop PML that is an AIDS-defining illness. However, current HIV therapy using antiretroviral drugs (ART), which effectively restores immune system function, allows as many as half of all HIV-PML patients to survive, although they may sometimes have an inflammatory reaction in the regions of the brain affected by PML. The symptoms of PML are diverse, since they are related to the location and amount of damage in the brain, and may evolve over the course of several weeks to months The most prominent symptoms are clumsiness; progressive weakness; and visual, speech, and sometimes personality changes. The progression of deficits leads to life-threatening disability and (frequently) death. A diagnosis of PML can be made following brain biopsy or by combining observations of a progressive course of the disease, consistent white matter lesions visible on a magnetic resonance imaging (MRI) scan, and the detection of the JC virus in spinal fluid.
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treatment
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What are the treatments for familial thoracic aortic aneurysm and dissection?
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These resources address the diagnosis or management of familial TAAD: - Gene Review: Gene Review: Thoracic Aortic Aneurysms and Aortic Dissections - Genetic Testing Registry: Aortic aneurysm, familial thoracic 2 - Genetic Testing Registry: Aortic aneurysm, familial thoracic 4 - Genetic Testing Registry: Aortic aneurysm, familial thoracic 6 - Genetic Testing Registry: Congenital aneurysm of ascending aorta - Genetic Testing Registry: Thoracic aortic aneurysm and aortic dissection 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.
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exams and tests
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How to diagnose Geniospasm?
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How might hereditary geniospasm be diagnosed? Although we were unable to locate laboratories offering genetic testing for hereditary geniospasm, the condition can be diagnosed on the basis of a clinical evaluation performed by a health care professional such as a neurologist who specializes in movement disorders.
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symptoms
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What are the symptoms of Preaxial polydactyly type 4?
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What are the signs and symptoms of Preaxial polydactyly type 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Preaxial polydactyly type 4. 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) 1-5 toe syndactyly - 3-4 finger syndactyly - Abnormality of earlobe - Autosomal dominant inheritance - Dysplastic distal thumb phalanges with a central hole - Preaxial polydactyly - 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.
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information
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What is (are) Hydrocephalus due to congenital stenosis of aqueduct of sylvius?
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Hydrocephalus due to congenital stenosis of aqueduct of sylvius (HSAS) is a form of L1 syndrome, which is an inherited disorder that primarily affects the nervous system. Males with HSAS are typically born with severe hydrocephalus and adducted thumbs (bent towards the palm). Other sign and symptoms of the condition include severe intellectual disability and spasticity. HSAS, like all forms of L1 syndrome, is caused by changes (mutations) in the L1CAM gene and is inherited in an X-linked recessive manner. Treatment is based on the signs and symptoms present in each person.
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inheritance
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Is DICER1 syndrome inherited?
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DICER1 syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene is sufficient to cause the disorder. It is important to note that people inherit an increased risk of tumors; many people who have mutations in the DICER1 gene do not develop abnormal growths.
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information
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What is (are) Autosomal dominant neuronal ceroid lipofuscinosis 4B?
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Autosomal dominant neuronal ceroid lipofuscinosis 4B is a form of adult neuronal ceroid lipofuscinosis, which is a rare condition that affects the nervous system. Signs and symptoms usually begin around age 30, but they can develop anytime between adolescence and late adulthood. Affected people generally experience behavioral abnormalities, dementia; difficulties with muscle coordination (ataxia); and involuntary movements such as tremors or tics. It can be caused by changes (mutations) in the DNAJC5 or CTSF gene and is inherited in an autosomal dominant manner. Treatment options are limited to therapies that can help relieve some of the symptoms.
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symptoms
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What are the symptoms of Situs inversus?
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What are the signs and symptoms of situs inversus? In isolated situs inversus (occurring alone with no other abnormalities), there is a complete mirror image transposition of the thoracic (chest) and abdominal organs, and anterior-posterior (front-back) symmetry is normal. Many affected people have no associated health issues when the condition is isolated. When situs inversus occurs in association with other conditions such as Kartagener syndrome or primary ciliary dyskinesia, additional signs and symptoms relating to these conditions will be present.
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genetic changes
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What are the genetic changes related to idiopathic pulmonary fibrosis?
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The cause of idiopathic pulmonary fibrosis is unknown, although the disease probably results from a combination of genetic and environmental factors. It is likely that genetic changes increase a person's risk of developing idiopathic pulmonary fibrosis, and then exposure to certain environmental factors triggers the disease. Changes in several genes have been suggested as risk factors for idiopathic pulmonary fibrosis. Most of these genetic changes account for only a small proportion of cases. However, mutations in genes known as TERC and TERT have been found in about 15 percent of all cases of familial pulmonary fibrosis and a smaller percentage of cases of sporadic idiopathic pulmonary fibrosis. The TERC and TERT genes provide instructions for making components of an enzyme called telomerase, which maintains structures at the ends of chromosomes known as telomeres. It is not well understood how defects in telomerase are associated with the lung damage characteristic of idiopathic pulmonary fibrosis. Researchers have also examined environmental risk factors that could contribute to idiopathic pulmonary fibrosis. These factors include exposure to wood or metal dust, viral infections, certain medications, and cigarette smoking. Some research suggests that gastroesophageal reflux disease (GERD) may also be a risk factor for idiopathic pulmonary fibrosis; affected individuals may breathe in (aspirate) stomach contents, which over time could damage the lungs.
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information
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What is (are) severe congenital neutropenia?
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Severe congenital neutropenia is a condition that causes affected individuals to be prone to recurrent infections. People with this condition have a shortage (deficiency) of neutrophils, a type of white blood cell that plays a role in inflammation and in fighting infection. The deficiency of neutrophils, called neutropenia, is apparent at birth or soon afterward. It leads to recurrent infections beginning in infancy, including infections of the sinuses, lungs, and liver. Affected individuals can also develop fevers and inflammation of the gums (gingivitis) and skin. Approximately 40 percent of affected people have decreased bone density (osteopenia) and may develop osteoporosis, a condition that makes bones progressively more brittle and prone to fracture. In people with severe congenital neutropenia, these bone disorders can begin at any time from infancy through adulthood. Approximately 20 percent of people with severe congenital neutropenia develop cancer of the blood-forming tissue (leukemia) or a disease of the blood and bone marrow (myelodysplastic syndrome) during adolescence. Some people with severe congenital neutropenia have additional health problems such as seizures, developmental delay, or heart and genital abnormalities.
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frequency
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How many people are affected by atelosteogenesis type 2?
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Atelosteogenesis type 2 is an extremely rare genetic disorder; its incidence is unknown.
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information
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What is (are) Cryptogenic organizing pneumonia?
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Cryptogenic organizing pneumonia (COP) is a form of idiopathic interstitial pneumonia characterized by lung inflammation and scarring that obstructs the small airways and air sacs of the lungs (alveoli). Signs and symptoms may include flu-like symptoms such as cough, fever, malaise, fatigue and weight loss. COP often affects adults in midlife (40 to 60 years of age). The exact underlying cause of the condition is unknown (idiopathic). Treatment varies based on the severity of the condition but generally includes glucocorticoids.
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treatment
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What are the treatments for Achondroplasia?
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How might children with achondroplasia be treated? Recommendations for management of children with achondroplasia were outlined by the American Academy of Pediatrics Committee on Genetics in the article, Health Supervision for Children with Achondroplasia. We recommend that you review this article with your childs health care provider(s). These recommendations include: Monitoring of height, weight, and head circumference using growth curves standardized for achondroplasia Measures to avoid obesity starting in early childhood. Careful neurologic examinations, with referral to a pediatric neurologist as necessary MRI or CT of the foramen magnum region for evaluation of severe hypotonia or signs of spinal cord compression Obtaining history for possible sleep apnea, with sleep studies as necessary Evaluation for low thoracic or high lumbar gibbus if truncal weakness is present Referral to a pediatric orthopedist if bowing of the legs interferes with walking Management of frequent middle-ear infections Speech evaluation by age two years Careful monitoring of social adjustment The GeneReview article on achondroplasia also provides information on medical management. http://www.ncbi.nlm.nih.gov/books/NBK1152/achondroplasia.Management.
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inheritance
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Is GRACILE syndrome inherited?
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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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information
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What is (are) factor V Leiden thrombophilia?
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Factor V Leiden thrombophilia is an inherited disorder of blood clotting. Factor V Leiden is the name of a specific gene mutation that results in thrombophilia, which is an increased tendency to form abnormal blood clots that can block blood vessels. People with factor V Leiden thrombophilia have a higher than average risk of developing a type of blood clot called a deep venous thrombosis (DVT). DVTs occur most often in the legs, although they can also occur in other parts of the body, including the brain, eyes, liver, and kidneys. Factor V Leiden thrombophilia also increases the risk that clots will break away from their original site and travel through the bloodstream. These clots can lodge in the lungs, where they are known as pulmonary emboli. Although factor V Leiden thrombophilia increases the risk of blood clots, only about 10 percent of individuals with the factor V Leiden mutation ever develop abnormal clots. The factor V Leiden mutation is associated with a slightly increased risk of pregnancy loss (miscarriage). Women with this mutation are two to three times more likely to have multiple (recurrent) miscarriages or a pregnancy loss during the second or third trimester. Some research suggests that the factor V Leiden mutation may also increase the risk of other complications during pregnancy, including pregnancy-induced high blood pressure (preeclampsia), slow fetal growth, and early separation of the placenta from the uterine wall (placental abruption). However, the association between the factor V Leiden mutation and these complications has not been confirmed. Most women with factor V Leiden thrombophilia have normal pregnancies.
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exams and tests
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How to diagnose Proteinuria?
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Tests that measure the amount of creatinine in the blood will show whether a persons kidneys are removing wastes efficiently. Having too much creatinine in the blood is a sign that a person has kidney damage. The doctor can use the creatinine measurement to estimate how efficiently the kidneys are filtering the blood. This calculation is called the estimated glomerular filtration rate, or eGFR. CKD is present when the eGFR is less than 60 milliliters per minute (mL/min).
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treatment
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What are the treatments for congenital bilateral absence of the vas deferens?
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These resources address the diagnosis or management of congenital bilateral absence of the vas deferens: - Gene Review: Gene Review: CFTR-Related Disorders - Genetic Testing Registry: Congenital bilateral absence of the vas deferens - MedlinePlus Encyclopedia: Infertility - MedlinePlus Encyclopedia: Pathway of sperm (image) - MedlinePlus Health Topic: Assisted Reproductive Technology 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.
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information
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What is (are) Muscle Disorders?
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Your muscles help you move and help your body work. Different types of muscles have different jobs. There are many problems that can affect muscles. Muscle disorders can cause weakness, pain or even paralysis. Causes of muscle disorders include - Injury or overuse, such as sprains or strains, cramps or tendinitis - A genetic disorder, such as muscular dystrophy - Some cancers - Inflammation, such as myositis - Diseases of nerves that affect muscles - Infections - Certain medicines Sometimes the cause is not known.
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information
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What is (are) Angina?
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Angina is chest pain or discomfort you feel when there is not enough blood flow to your heart muscle. Your heart muscle needs the oxygen that the blood carries. Angina may feel like pressure or a squeezing pain in your chest. It may feel like indigestion. You may also feel pain in your shoulders, arms, neck, jaw, or back. Angina is a symptom of coronary artery disease (CAD), the most common heart disease. CAD happens when a sticky substance called plaque builds up in the arteries that supply blood to the heart, reducing blood flow. There are three types of angina: - Stable angina is the most common type. It happens when the heart is working harder than usual. Stable angina has a regular pattern. Rest and medicines usually help. - Unstable angina is the most dangerous. It does not follow a pattern and can happen without physical exertion. It does not go away with rest or medicine. It is a sign that you could have a heart attack soon. - Variant angina is rare. It happens when you are resting. Medicines can help. Not all chest pain or discomfort is angina. If you have chest pain, you should see your health care provider. NIH: National Heart, Lung, and Blood Institute.
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information
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What is (are) myasthenia gravis?
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Myasthenia gravis is a disorder that causes weakness of the skeletal muscles, which are muscles that the body uses for movement. The weakness most often starts in the muscles around the eyes, causing drooping of the eyelids (ptosis) and difficulty coordinating eye movements, which results in blurred or double vision. In a form of the disorder called ocular myasthenia, the weakness remains confined to the eye muscles. In most people with myasthenia gravis, however, additional muscles in the face and neck are affected. Affected individuals may have unusual facial expressions, difficulty holding up the head, speech impairment (dysarthria), and chewing and swallowing problems (dysphagia) that may lead to choking, gagging, or drooling. Other muscles in the body are also affected in some people with myasthenia gravis. The muscles of the arms and legs may be involved, causing affected individuals to have changes in their gait or trouble with lifting objects, rising from a seated position, or climbing stairs. The muscle weakness tends to fluctuate over time; it typically worsens with activity and improves with rest. Weakness of the muscles in the chest wall and the muscle that separates the abdomen from the chest cavity (the diaphragm) can cause breathing problems in some people with myasthenia gravis. About 10 percent of people with this disorder experience a potentially life-threatening complication in which these respiratory muscles weaken to the point that breathing is dangerously impaired, and the affected individual requires ventilation assistance. This respiratory failure, called a myasthenic crisis, may be triggered by stresses such as infections or reactions to medications. People can develop myasthenia gravis at any age. For reasons that are unknown, it is most commonly diagnosed in women younger than age 40 and men older than age 60. It is uncommon in children, but some infants born to women with myasthenia gravis show signs and symptoms of the disorder for the first few days or weeks of life. This temporary occurrence of symptoms is called transient neonatal myasthenia gravis.
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treatment
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What are the treatments for familial hemophagocytic lymphohistiocytosis?
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These resources address the diagnosis or management of familial hemophagocytic lymphohistiocytosis: - Gene Review: Gene Review: Hemophagocytic Lymphohistiocytosis, Familial - Genetic Testing Registry: Familial hemophagocytic lymphohistiocytosis - Genetic Testing Registry: Hemophagocytic lymphohistiocytosis, familial, 2 - Genetic Testing Registry: Hemophagocytic lymphohistiocytosis, familial, 3 - Genetic Testing Registry: Hemophagocytic lymphohistiocytosis, familial, 4 - Genetic Testing Registry: Hemophagocytic lymphohistiocytosis, familial, 5 - The Merck Manual for Healthcare Professionals - University of Minnesota: Pediatric BloodMarrow Transplantation Center 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.
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causes
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What causes Glycogen storage disease type 13?
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What causes glycogen storage disease type 13? Glycogen storage disease type 13 (GSD13) is caused by changes (mutations) in the ENO3 gene. Glycogen is a substance that is stored in muscle tissue and is used as an important source of energy for the muscles during movement and exercise. The ENO3 gene makes a chemical called enolase, which is an enzyme that helps the muscles use glycogen for energy. In GSD13, the ENO3 genes do not work properly such that the body cannot make enolase, and as a result, the muscles do not have enough energy to work properly.
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genetic changes
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What are the genetic changes related to ADCY5-related dyskinesia?
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As its name suggests, ADCY5-related dyskinesia is caused by mutations in the ADCY5 gene. This gene provides instructions for making an enzyme called adenylate cyclase 5. This enzyme helps convert a molecule called adenosine triphosphate (ATP) to another molecule called cyclic adenosine monophosphate (cAMP). ATP is a molecule that supplies energy for cells' activities, including muscle contraction, and cAMP is involved in signaling for many cellular functions. Some ADCY5 gene mutations that cause ADCY5-related dyskinesia are thought to increase adenylate cyclase 5 enzyme activity and the level of cAMP within cells. Others prevent production of adenylate cyclase 5. It is unclear how either type of mutation leads to the abnormal movements that occur in this disorder.
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information
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What is (are) Thoracic outlet syndrome?
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Thoracic outlet syndrome refers to the many signs and symptoms caused from compression of the group of nerves and blood vessels in the area just above the first rib and behind the clavicle. The term thoracic outlet syndrome is not a specific diagnosis, but refers to a group of conditions, namely neurogenic (nTOS), venous (vTOS), and arterial thoracic outlet syndrome (aTOS). While collectively TOS is not thought to be rare, individual sub-types may be. The most common type (95% of cases) is nTOS which is caused from brachial plexus compression. Symptoms of nTOS include shoulder and arm numbness, abnormal sensations and weakness. vTOS may cause deep vein thrombosis and swelling; and aTOS can cause blood clots, arm pain with exertion, or acute arterial thrombosis (sudden blood flood obstruction in an artery). Diagnosis of TOS can be very difficult and diagnosis is often delayed. Treatment depends on the type of TOS and may include physical therapy, thoracic outlet decompression, thrombolysis or other procedures.
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information
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What is (are) Turner syndrome?
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Turner syndrome is a chromosomal condition that affects development in females. The most common feature of Turner syndrome is short stature, which becomes evident by about age 5. An early loss of ovarian function (ovarian hypofunction or premature ovarian failure) is also very common. The ovaries develop normally at first, but egg cells (oocytes) usually die prematurely and most ovarian tissue degenerates before birth. Many affected girls do not undergo puberty unless they receive hormone therapy, and most are unable to conceive (infertile). A small percentage of females with Turner syndrome retain normal ovarian function through young adulthood. About 30 percent of females with Turner syndrome have extra folds of skin on the neck (webbed neck), a low hairline at the back of the neck, puffiness or swelling (lymphedema) of the hands and feet, skeletal abnormalities, or kidney problems. One third to one half of individuals with Turner syndrome are born with a heart defect, such as a narrowing of the large artery leaving the heart (coarctation of the aorta) or abnormalities of the valve that connects the aorta with the heart (the aortic valve). Complications associated with these heart defects can be life-threatening. Most girls and women with Turner syndrome have normal intelligence. Developmental delays, nonverbal learning disabilities, and behavioral problems are possible, although these characteristics vary among affected individuals.
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symptoms
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What are the symptoms of Limited cutaneous systemic sclerosis?
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What are the signs and symptoms of Limited cutaneous systemic sclerosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Limited cutaneous systemic sclerosis. 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) Acrocyanosis 90% Autoimmunity 90% Dry skin 90% Hypopigmented skin patches 90% Chondrocalcinosis 50% Feeding difficulties in infancy 50% Mucosal telangiectasiae 50% Nausea and vomiting 50% Skin ulcer 50% Telangiectasia of the skin 50% Camptodactyly of toe 7.5% Pulmonary fibrosis 7.5% Pulmonary hypertension 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.
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information
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What is (are) Age-related Macular Degeneration?
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Age-related macular degeneration, also known as AMD, is an eye disease that affects the macula, a part of the retina. The retina sends light from the eye to the brain, and the macula allows you to see fine detail. AMD Blurs Central Vision AMD blurs the sharp central vision you need for straight-ahead activities such as reading, sewing, and driving. AMD causes no pain. How AMD Progresses In some cases, AMD advances so slowly that people notice little change in their vision. In others, the disease progresses faster and may lead to a loss of vision in both eyes. AMD is a common eye condition among people age 50 and older. It is a leading cause of vision loss in older adults. Two Forms of AMD There are two forms of age-related macular degeneration -- dry and wet.
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symptoms
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What are the symptoms of Leukoencephalopathy - dystonia - motor neuropathy?
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What are the signs and symptoms of Leukoencephalopathy - dystonia - motor neuropathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Leukoencephalopathy - dystonia - motor neuropathy. 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 motor neuron morphology - Abnormality of saccadic eye movements - Abnormality of thalamus morphology - Azoospermia - Head tremor - Hypergonadotropic hypogonadism - Hyposmia - Intention tremor - Leukoencephalopathy - Peripheral neuropathy - Torticollis - 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.
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treatment
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What are the treatments for Allan-Herndon-Dudley syndrome?
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These resources address the diagnosis or management of Allan-Herndon-Dudley syndrome: - Gene Review: Gene Review: MCT8-Specific Thyroid Hormone Cell-Membrane Transporter Deficiency - Genetic Testing Registry: Allan-Herndon-Dudley syndrome - MedlinePlus Encyclopedia: Intellectual Disability - MedlinePlus Encyclopedia: T3 Test 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.
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inheritance
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Is aromatic l-amino acid decarboxylase deficiency inherited?
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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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information
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What is (are) Hair Loss?
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You lose up to 100 hairs from your scalp every day. That's normal, and in most people, those hairs grow back. But many men -- and some women -- lose hair as they grow older. You can also lose your hair if you have certain diseases, such as thyroid problems, diabetes, or lupus. If you take certain medicines or have chemotherapy for cancer, you may also lose your hair. Other causes are stress, a low protein diet, a family history, or poor nutrition. Treatment for hair loss depends on the cause. In some cases, treating the underlying cause will correct the problem. Other treatments include medicines and hair restoration.
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research
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what research (or clinical trials) is being done for Whipple's Disease?
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The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge of the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. The NINDS supportsa broad range of research on disorders that affect the central nervous system. The National Institute of Diabetes and Digestive and Kidney Diseases also supports research on disorders such as Whipple's disease. Much of this research is aimed at learning more about these disorders and finding ways to prevent, treat, and, ultimately, cure them.
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information
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What is (are) North American Indian childhood cirrhosis?
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North American Indian childhood cirrhosis is a rare liver disorder that occurs in children. The liver malfunction causes yellowing of the skin and whites of the eyes (jaundice) in affected infants. The disorder worsens with age, progressively damaging the liver and leading to chronic, irreversible liver disease (cirrhosis) in childhood or adolescence. Unless it is treated with liver transplantation, North American Indian childhood cirrhosis typically causes life-threatening complications including liver failure.
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exams and tests
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How to diagnose Prostate Cancer?
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Tests that examine the prostate and blood are used to detect (find) and diagnose prostate cancer. 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. - Digital rectal exam (DRE): An exam of the rectum. The doctor or nurse inserts a lubricated, gloved finger into the rectum and feels the prostate through the rectal wall for lumps or abnormal areas. - Prostate-specific antigen (PSA) test : A test that measures the level of PSA in the blood. PSA is a substance made by the prostate that may be found in an increased amount in the blood of men who have prostate cancer. PSA levels may also be high in men who have an infection or inflammation of the prostate or BPH (an enlarged, but noncancerous, prostate). - Transrectal ultrasound : A procedure in which a probe that is about the size of a finger is inserted into the rectum to check the prostate. The probe is used to bounce high-energy sound waves (ultrasound) off internal tissues or organs and make echoes. The echoes form a picture of body tissues called a sonogram. Transrectal ultrasound may be used during a biopsy procedure. - Transrectal magnetic resonance imaging (MRI): A procedure that uses a strong magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body. A probe that gives off radio waves is inserted into the rectum near the prostate. This helps the MRI machine make clearer pictures of the prostate and nearby tissue. A transrectal MRI is done to find out if the cancer has spread outside the prostate into nearby tissues. This procedure is also called nuclear magnetic resonance imaging (NMRI). - Biopsy: The removal of cells or tissues so they can be viewed under a microscope by a pathologist. The pathologist will check the tissue sample to see if there are cancer cells and find out the Gleason score. The Gleason score ranges from 2-10 and describes how likely it is that a tumor will spread. The lower the number, the less likely the tumor is to spread. A transrectal biopsy is used to diagnose prostate cancer. A transrectal biopsy is the removal of tissue from the prostate by inserting a thin needle through the rectum and into the prostate. This procedure is usually done using transrectal ultrasound to help guide where samples of tissue are taken from. A pathologist views the tissue under a microscope to look for cancer cells.
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symptoms
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What are the symptoms of Sarcoidosis?
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Many people who have sarcoidosis have no signs or symptoms or mild ones. Often, the disease is found when a chest x ray is done for another reason (for example, to diagnose pneumonia). The signs and symptoms of sarcoidosis vary depending on which organs are affected. Signs and symptoms also may vary depending on your gender, age, and ethnic background. (For more information, go to "Who Is at Risk for Sarcoidosis?") Common Signs and Symptoms In both adults and children, sarcoidosis most often affects the lungs. If granulomas (inflamed lumps) form in your lungs, you may wheeze, cough, feel short of breath, or have chest pain. Or, you may have no symptoms at all. Some people who have sarcoidosis feel very tired, uneasy, or depressed. Night sweats and weight loss are common symptoms of the disease. Common signs and symptoms in children are fatigue (tiredness), loss of appetite, weight loss, bone and joint pain, and anemia. Children who are younger than 4 years old may have a distinct form of sarcoidosis. It may cause enlarged lymph nodes in the chest (which can be seen on chest x-ray pictures), skin lesions, and eye swelling or redness. Other Signs and Symptoms Sarcoidosis may affect your lymph nodes. The disease can cause enlarged lymph nodes that feel tender. Sarcoidosis usually affects the lymph nodes in your neck and chest. However, the disease also may affect the lymph nodes under your chin, in your armpits, or in your groin. Sarcoidosis can cause lumps, ulcers (sores), or areas of discolored skin. These areas may itch, but they don't hurt. These signs tend to appear on your back, arms, legs, and scalp. Sometimes they appear near your nose or eyes. These signs usually last a long time. Sarcoidosis may cause a more serious skin condition called lupus pernio. Disfiguring skin sores may affect your nose, nasal passages, cheeks, ears, eyelids, and fingers. These sores tend to be ongoing. They can return after treatment is over. Sarcoidosis also can cause eye problems. If you have sarcoidosis, having an annual eye exam is important. If you have changes in your vision and can't see as clearly or can't see color, call 911 or have someone drive you to the emergency room. You should call your doctor if you have any new eye symptoms, such as burning, itching, tearing, pain, or sensitivity to light. Signs and symptoms of sarcoidosis also may include an enlarged liver, spleen, or salivary glands. Although less common, sarcoidosis can affect the heart and brain. This can cause many symptoms, such as abnormal heartbeats, shortness of breath, headaches, and vision problems. If sarcoidosis affects the heart or brain, serious complications can occur. Lofgren's Syndrome Lofgren's syndrome is a classic set of signs and symptoms that occur in some people when they first have sarcoidosis. Signs and symptoms may include: Fever. This symptom only occurs in some people. Enlarged lymph nodes (which can be seen on a chest x ray). Arthritis, usually in the ankles. This symptom is more common in men than women. Erythema nodosum. This is a rash of red or reddish-purple bumps on your ankles and shins. The rash may be warm and tender to the touch. This symptom is more common in women than men. Sarcoidosis Signs and Symptoms.
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treatment
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What are the treatments for Shingles?
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If You Suspect Shingles If you suspect you have shingles, see your healthcare provider within 72 hours of the first sign of the rash.Treatment with antiviral medications can reduce the severity of the nerve damage and speed healing. But to be effective, they must be started as soon as possible after the rash appears. (Watch the video to learn more about shingles treatments. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.) Antivirals and Other Treatments At the early stage of shingles, a healthcare provider will usually prescribe antiviral pills. These antiviral medicines include acyclovir, valacyclovir, or famcyclovir, Your healthcare provider, may also prescribe drugs to relieve pain. Wet compresses, calamine lotion, and colloidal oatmeal baths may help relieve some of the itching. Patients with long-term pain may also be treated with numbing patches, tricyclic antidepressants, and gabapentin, an anti-seizure medication. While these treatments can reduce the symptoms of shingles, they are not a cure. The antivirals do weaken the virus and its effects, but the outbreak still tends to run its course. Good hygiene, including daily bathing, can help prevent bacterial infections. It is a good idea to keep fingernails clean and well-trimmed to reduce scratching. Shingles Vaccine The shingles vaccine is NOT recommended if you have active shingles or pain that continues after the rash is gone. To learn more about the shingles vaccine, see the chapter on "Prevention.".
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causes
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What causes Gum (Periodontal) Disease?
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If your hands have become stiff because of arthritis or if you have a physical disability, you may find it difficult to use your toothbrush or dental floss. The following tips might make it easier for you to clean your teeth and gums. Make the toothbrush easier to hold. The same kind of Velcro strap used to hold food utensils is helpful for some people. Make the toothbrush handle bigger. You can cut a small slit in the side of a tennis ball and slide it onto the handle of the toothbrush. You can also buy a toothbrush with a large handle, or you can slide a bicycle grip onto the handle. Attaching foam tubing, available from home health care catalogs, is also helpful. Try other toothbrush options. A power toothbrush might make brushing easier. Some people may find that it takes time to get used to a power toothbrush. A floss holder can make it easier to hold the dental floss. Also, talk with your dentist about whether an oral irrigation system, special small brushes, or other instruments that clean between teeth are right for you. Be sure to check with your dentist, though, before using any of these methods since they may injure the gums if used improperly.
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symptoms
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What are the symptoms of Duodenal atresia?
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What are the signs and symptoms of Duodenal atresia? The Human Phenotype Ontology provides the following list of signs and symptoms for Duodenal atresia. 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) Duodenal stenosis 90% Polyhydramnios 90% Abnormality of the pancreas 7.5% Abnormality of the pulmonary artery 7.5% Autosomal recessive inheritance - Duodenal atresia - 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.
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information
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What is (are) Spastic paraplegia 11?
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Spastic paraplegia 11 is a form of hereditary spastic paraplegia. People with spastic paraplegia 11 experience progressive muscle stiffness and eventual paralysis of the lower limbs, as well as a range of other neurologic symptoms. The tissue connecting the left and right halves of the brain (corpus callosum) is abnormally thin in individuals with this condition. Spastic paraplegia 11 is caused by mutations in the SPG11 gene and is passed through families in an autosomal recessive fashion.
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genetic changes
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What are the genetic changes related to methemoglobinemia, beta-globin type?
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Methemoglobinemia, beta-globin type is caused by mutations in the HBB gene. This gene provides instructions for making a protein called beta-globin. Beta-globin is one of four components (subunits) that make up hemoglobin. In adults, hemoglobin normally contains two subunits of beta-globin and two subunits of another protein called alpha-globin. Each of these protein subunits is bound to an iron-containing molecule called heme; each heme contains an iron molecule in its center that can bind to one oxygen molecule. For hemoglobin to bind to oxygen, the iron within the heme molecule needs to be in a form called ferrous iron (Fe2). The iron within the heme can change to another form of iron called ferric iron (Fe3), which cannot bind oxygen. Hemoglobin that contains ferric iron is known as methemoglobin. HBB gene mutations that cause methemoglobinemia, beta-globin type change the structure of beta-globin and promote the heme iron to change from ferrous to ferric. The ferric iron cannot bind oxygen and causes cyanosis and the brown appearance of blood.
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exams and tests
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How to diagnose Roberts syndrome?
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How is Roberts syndrome diagnosed? The diagnosis of Roberts syndrome is suspected in individuals with the following: Prenatal growth delay ranging from mild to severe. Average birth length and weight is typically below the third percentile in most affected infants. Limb malformations including bilateral, symmetric tetraphocomelia (phocomelia of all 4 limbs) or hypomelia (underdevelopment of the limbs) caused by mesomelic shortening (shortening of the middle part of the limb). Upper limbs are typically more severely affected than lower limbs. Other limb malformations include oligodactyly with thumb aplasia (lack of formation) or hypoplasia (underdevelopment), syndactyly, clinodactyly, and elbow and knee flexion contractures (inability to fully straighten the arms and legs). Craniofacial abnormalities including bilateral cleft lip and/or palate, micrognathia (small jaw), hypertelorism (widely-spaced eyes), exophthalmos (bulging eyes), downslanting palpebral fissures, malar hypoplasia (underdeveloped cheek bones), hypoplastic nasal alae, and ear malformations. The diagnosis of Roberts syndrome relies on a cytogenetic blood test of individuals with the above features. Cytogenetic testing would show the characteristic chromosomal abnormalities that are present in individuals with the condition. Is genetic testing available for Roberts syndrome? Genetic testing is currently available for Roberts syndrome. GeneTests lists the names of laboratories that are performing genetic testing for Roberts syndrome. To view the contact information for the clinical laboratories conducting testing click here. To access the contact information for the research laboratories performing genetic testing, click here. Please note: Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional.
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information
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What is (are) Children's interstitial lung disease?
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Children's interstitial and diffuse lung disease (chILD) is not a single condition, but a group of rare lung diseases found in infants, children and adolescents that can range from mild to severe. All types of chILD decrease a child's ability to supply oxygen to their body. These diseases make it difficult for the lungs to exchange oxygen and carbon dioxide and can cause fluid and other materials to collect in the lungs. Early diagnosis and treatment is important for any type of chILD. See the Children's Interstitial Lung Disease Foundation to see a list of different ILDs and to find more information about diagnosis, treatment and help finding a specialist.
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exams and tests
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How to diagnose What I need to know about My Child's Urinary Tract Infection?
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A UTI is diagnosed by testing a sample of your childs urine. The way the urine is collected depends on your childs age: The health care provider looks at the urine sample with a microscope to check for bacteria or pus. The sample is also sent to a lab. The lab performs a urine culture by placing the sample in a tube or dish with a substance that encourages any bacteria present to grow. The bacteria that grow can be identified and tested to see which medicines will work best to treat the infection. A urine culture usually takes 1 to 3 days to complete.
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treatment
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What are the treatments for nonsyndromic hearing loss?
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These resources address the diagnosis or management of nonsyndromic hearing loss: - Baby's First Test: Hearing Loss - Gene Review: Gene Review: Deafness and Hereditary Hearing Loss Overview - Genetic Testing Registry: Deafness, X-linked - Genetic Testing Registry: Hereditary hearing loss and deafness - Genetic Testing Registry: Non-syndromic genetic deafness - MedlinePlus Encyclopedia: Age-related hearing loss - MedlinePlus Encyclopedia: Audiology - MedlinePlus Encyclopedia: Hearing loss - MedlinePlus Encyclopedia: Hearing or speech impairment - resources 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.
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inheritance
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Is Nonspherocytic hemolytic anemia due to hexokinase deficiency inherited?
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How is nonspherocytic hemolytic anemia due to hexokinase deficiency inherited? Nonspherocytic hemolytic anemia due to hexokinase deficiency is inherited in an autosomal recessive manner. This means that a mutation in both copies of the gene associated with the condition must be present in order to be affected. The parents of an individual with an autosomal recessive condition each have one mutated copy of the gene in each cell and are referred to as carriers. Carriers typically do not have any signs or symptoms of the condition. When two carriers of the same autosomal recessive condition have children, each child has a 25% (1 in 4) risk to be affected, a 50% (1 in 2) risk to be an unaffected carrier like each parent, and a 25% risk to be unaffected and have 2 normal copies of the gene.
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symptoms
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What are the symptoms of Spastic paraplegia 51?
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What are the signs and symptoms of Spastic paraplegia 51? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia 51. 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 - Babinski sign - Bulbous nose - Cerebellar atrophy - Cerebral cortical atrophy - Coarse facial features - Congenital onset - Decreased muscle mass - Drooling - Facial hypotonia - Flexion contracture - Hyperreflexia - Intellectual disability, severe - Long nose - Microcephaly - Narrow face - Narrow forehead - Neonatal hypotonia - Nystagmus - Pointed chin - Prominent antihelix - Seizures - Short philtrum - Short stature - Spastic paraplegia - Spastic tetraplegia - Talipes equinovarus - Ventriculomegaly - Wide mouth - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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research
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what research (or clinical trials) is being done for Primary Lateral Sclerosis?
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The NINDS conducts a broad range of research on neuromuscular disorders such as PLS. This research is aimed at developing techniques to diagnose, treat, prevent, and ultimately cure these devastating diseases.
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treatment
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What are the treatments for Dry Mouth?
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Certain cancer treatments can affect the salivary glands. Head and neck radiation therapy can cause the glands to produce little or no saliva. Chemotherapy may cause the salivary glands to produce thicker saliva, which makes the mouth feel dry and sticky.
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treatment
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What are the treatments for Stiff-Person Syndrome?
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People with SPS respond to high doses of diazepam and several anti-convulsants, gabapentin and tiagabine. A recent study funded by the NINDS demonstrated the effectiveness of intravenous immunoglobulin (IVIg) treatment in reducing stiffness and lowering sensitivity to noise, touch, and stress in people with SPS.
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symptoms
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What are the symptoms of Chondrosarcoma?
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What are the signs and symptoms of Chondrosarcoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Chondrosarcoma. 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 - Chondrosarcoma - 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.
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information
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What is (are) frontometaphyseal dysplasia?
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Frontometaphyseal dysplasia is a disorder involving abnormalities in skeletal development and other health problems. It is a member of a group of related conditions called otopalatodigital spectrum disorders, which also includes otopalatodigital syndrome type 1, otopalatodigital syndrome type 2, and Melnick-Needles syndrome. In general, these disorders involve hearing loss caused by malformations in the tiny bones in the ears (ossicles), problems in the development of the roof of the mouth (palate), and skeletal abnormalities involving the fingers and/or toes (digits). Frontometaphyseal dysplasia is distinguished from the other otopalatodigital spectrum disorders by the presence of joint deformities called contractures that restrict the movement of certain joints. People with frontometaphyseal dysplasia may also have bowed limbs, an abnormal curvature of the spine (scoliosis), and abnormalities of the fingers and hands. Characteristic facial features may include prominent brow ridges; wide-set and downward-slanting eyes; a very small lower jaw and chin (micrognathia); and small, missing or misaligned teeth. Some affected individuals have hearing loss. In addition to skeletal abnormalities, individuals with frontometaphyseal dysplasia may have obstruction of the ducts between the kidneys and bladder (ureters), heart defects, or constrictions in the passages leading from the windpipe to the lungs (the bronchi) that can cause problems with breathing. Males with frontometaphyseal dysplasia generally have more severe signs and symptoms of the disorder than do females, who may show only the characteristic facial features.
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symptoms
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What are the symptoms of Paroxysmal cold hemoglobinuria?
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What are the signs and symptoms of Paroxysmal cold hemoglobinuria? The Human Phenotype Ontology provides the following list of signs and symptoms for Paroxysmal cold hemoglobinuria. 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 coagulation 90% Abnormality of temperature regulation 90% Abnormality of urine homeostasis 90% Arthralgia 90% Hemolytic anemia 90% Recurrent respiratory infections 90% Diarrhea 7.5% Migraine 7.5% Nausea and vomiting 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.
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inheritance
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Is persistent Mllerian duct syndrome inherited?
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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. However, persistent Mllerian duct syndrome affects only males. Females with two mutated copies of the gene do not show signs and symptoms of the condition.
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information
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What is (are) Medicare and Continuing Care?
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Medicare Advantage Plans, sometimes known as Medicare Part C, are plans people can join to get their Medicare benefits. Medicare Advantage Plans are available in many areas of the country, and a person who joins one of these plans will get all Medicare-covered benefits. These plans cover hospital costs (Part A), medical costs (Part B), and sometimes prescription drug costs (Part D). Medicare Advantage Plans may also offer extra coverage, such as vision, hearing, dental, and/or health and wellness programs. Medicare Advantage Plans are managed by private insurance companies approved by Medicare. To join a Medicare Advantage Plan, a person must have Medicare Part A and Part B and must pay the monthly Medicare Part B premium to Medicare. In addition, it might be necessary to pay a monthly premium to the Medicare Advantage Plan for the extra benefits that they offer. In most of these plans, there are generally extra benefits and lower co-payments than in Original Medicare. (See Question 6 for information about Original Medicare.) However, a person may have to see doctors that belong to the plan or go to certain hospitals to get services. A person can switch plans each year in the fall if desired. To find out what Medicare Advantage Plans are available in your area, visit http://www.medicare.gov and choose the link Compare Health Plans and Medigap Policies in Your Area to use the Medicare Options Compare tool, or call 1-800-MEDICARE (1-800-633-4227).
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symptoms
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What are the symptoms of Paine syndrome?
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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.
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prevention
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How to prevent Parasites - Lice - Body Lice?
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Body lice are spread most commonly by direct contact with an infested person or an infested persons clothing or bedding. Body lice usually infest persons who do not launder and change their clothes regularly. The following are steps that can be taken to help prevent and control the spread of body lice: - Bathe regularly and change into properly laundered clothes at least once a week; launder infested clothing at least once a week. - Machine wash and dry infested clothing and bedding using the hot water (at least 130F) laundry cycle and the high heat drying cycle. Clothing and items that are not washable can be dry-cleaned OR sealed in a plastic bag and stored for 2 weeks. - Do not share clothing, beds, bedding, and towels used by an infested person. - Fumigation or dusting with chemical insecticides sometimes is necessary to control and prevent the spread of body lice for certain diseases (epidemic typhus).
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treatment
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What are the treatments for familial hyperaldosteronism?
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These resources address the diagnosis or management of familial hyperaldosteronism: - Genetic Testing Registry: Familial hyperaldosteronism type 1 - Genetic Testing Registry: Familial hyperaldosteronism type 3 - Hormone Health Network: A Patient's Guide: Primary Hyperaldosteronism - International Registry for Glucocorticoid-Remediable Aldosteronism - MedlinePlus Encyclopedia: Aldosterone 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.
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inheritance
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Is CHOPS syndrome inherited?
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CHOPS syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. All known cases of this condition result from new (de novo) mutations in the gene that occur during the formation of reproductive cells (eggs or sperm) or in early embryonic development. Affected individuals have no history of the disorder in their family.
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information
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What is (are) Digestive Diseases?
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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.
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information
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What is (are) Pitt-Hopkins syndrome?
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Pitt-Hopkins syndrome is a condition characterized by intellectual disability and developmental delay, breathing problems, recurrent seizures (epilepsy), and distinctive facial features. People with Pitt-Hopkins syndrome have moderate to severe intellectual disability. Most affected individuals have delayed development of mental and motor skills (psychomotor delay). They are delayed in learning to walk and developing fine motor skills such as picking up small items with their fingers. People with Pitt-Hopkins syndrome typically do not develop speech; some may learn to say a few words. Many affected individuals exhibit features of autistic spectrum disorders, which are characterized by impaired communication and socialization skills. Breathing problems in individuals with Pitt-Hopkins syndrome are characterized by episodes of rapid breathing (hyperventilation) followed by periods in which breathing slows or stops (apnea). These episodes can cause a lack of oxygen in the blood, leading to a bluish appearance of the skin or lips (cyanosis). In some cases, the lack of oxygen can cause loss of consciousness. Some older individuals with Pitt-Hopkins syndrome develop widened and rounded tips of the fingers and toes (clubbing) because of recurrent episodes of decreased oxygen in the blood. The breathing problems occur only when the person is awake and typically first appear in mid-childhood, but they can begin as early as infancy. Episodes of hyperventilation and apnea can be triggered by emotions such as excitement or anxiety or by extreme tiredness (fatigue). Epilepsy occurs in most people with Pitt-Hopkins syndrome and usually begins during childhood, although it can be present from birth. Individuals with Pitt-Hopkins syndrome have distinctive facial features that include thin eyebrows, sunken eyes, a prominent nose with a high nasal bridge, a pronounced double curve of the upper lip (Cupid's bow), a wide mouth with full lips, and widely spaced teeth. The ears are usually thick and cup-shaped. Children with Pitt-Hopkins syndrome typically have a happy, excitable demeanor with frequent smiling, laughter, and hand-flapping movements. However, they can also experience anxiety and behavioral problems. Other features of Pitt-Hopkins syndrome may include constipation and other gastrointestinal problems, an unusually small head (microcephaly), nearsightedness (myopia), eyes that do not look in the same direction (strabismus), short stature, and minor brain abnormalities. Affected individuals may also have small hands and feet, a single crease across the palms of the hands, flat feet (pes planus), or unusually fleshy pads at the tips of the fingers and toes. Males with Pitt-Hopkins syndrome may have undescended testes (cryptorchidism).
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genetic changes
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What are the genetic changes related to isolated ectopia lentis?
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Mutations in the FBN1 or ADAMTSL4 gene cause isolated ectopia lentis. These genes provide instructions for making proteins that are necessary for the formation of threadlike filaments called microfibrils. Microfibrils provide support to many tissues, including the lenses of the eyes, which are held in position by these filaments. Mutations in the FBN1 or ADAMTSL4 gene impair protein function and lead to a decrease in microfibril formation or result in the formation of impaired microfibrils. Without functional microfibrils to anchor the lens in its central position at the front of the eye, the lens becomes displaced. The displaced lens cannot focus light correctly, contributing to the vision problems that are common in people with isolated ectopia lentis.
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information
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What is (are) Blastomycosis?
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Blastomycosis is a rare infection that may develop when people inhale a fungus called Blastomyces dermatitidis, a fungus that is found in moist soil, particularly where there is rotting vegetation. The fungus enters the body through the lungs, infecting them. The fungus then spreads to other areas of the body. The infection may affect the skin, bones and joints, and other areas. The disease usually affects people with weakened immune systems, such as those with HIV or who have had an organ transplant.
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frequency
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How many people are affected by congenital leptin deficiency?
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Congenital leptin deficiency is a rare disorder. Only a few dozen cases have been reported in the medical literature.
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treatment
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What are the treatments for Wagner syndrome?
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These resources address the diagnosis or management of Wagner syndrome: - Gene Review: Gene Review: VCAN-Related Vitreoretinopathy - Genetic Testing Registry: Wagner syndrome 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.
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treatment
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What are the treatments for renal hypouricemia?
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These resources address the diagnosis or management of renal hypouricemia: - Genetic Testing Registry: Familial renal hypouricemia - Genetic Testing Registry: Renal hypouricemia 2 - KidsHealth from Nemours: Blood Test: Uric Acid - MedlinePlus Encyclopedia: Uric Acid--Blood These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care.
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information
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What is (are) vitamin D-dependent rickets?
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Vitamin D-dependent rickets is a disorder of bone development that leads to softening and weakening of the bones (rickets). The condition is split into two major types: type 1 (VDDR1), which is also known as pseudovitamin D deficiency rickets or vitamin D 1-hydroxylase deficiency, and type 2 (VDDR2), also known as hereditary vitamin D-resistant rickets (HVDRR). The signs and symptoms of this condition begin within months of birth, and most are the same for VDDR1 and VDDR2. The weak bones often cause bone pain and delayed growth and have a tendency to fracture. When affected children begin to walk, they may develop bowed legs because the bones are too weak to bear weight. Impaired bone development also results in widening of the areas near the ends of bones where new bone forms (metaphyses), especially in the knees, wrists, and ribs. Some people with vitamin D-dependent rickets have dental abnormalities such as thin tooth enamel and frequent cavities. Poor muscle tone (hypotonia) and muscle weakness are also common in this condition, and some affected individuals develop seizures. In vitamin D-dependent rickets, there is an imbalance of certain substances in the blood. Both VDDR1 and VDDR2 are characterized by low levels of the minerals calcium (hypocalcemia) and phosphate (hypophosphatemia), which are essential for the normal formation of bones and teeth. Affected individuals also have high levels of a hormone involved in regulating calcium levels called parathyroid hormone (PTH), which leads to a condition called secondary hyperparathyroidism. The two forms of vitamin D-dependent rickets can be distinguished by blood levels of a hormone called calcitriol, which is the active form of vitamin D; individuals with VDDR1 have abnormally low levels of calcitriol and individuals with VDDR2 have abnormally high levels. Hair loss (alopecia) can occur in VDDR2, although not everyone with this form of the condition has alopecia. Affected individuals can have sparse or patchy hair or no hair at all on their heads. Some affected individuals are missing body hair as well.
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information
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What is (are) Benign rolandic epilepsy (BRE)?
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Benign rolandic epilepsy is the most common form of childhood epilepsy. It is referred to as "benign" because most children outgrow the condition by puberty, usually by 14 years of age. This form of epilepsy is characterized by seizures involving the part of the frontal lobe of the brain called the rolandic area. The seizures associated with this condition typically occur during the nighttime. Treatment is usually not prescribed, since the condition tends to disappear by puberty.
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research
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what research (or clinical trials) is being done for Childhood Central Nervous System Atypical Teratoid/Rhabdoid Tumor?
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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 attack specific cancer cells. Targeted therapies usually cause less harm to normal cells than chemotherapy or radiation therapy do. Targeted therapy is being studied in the treatment of recurrent childhood central nervous system atypical teratoid/rhabdoid tumor. 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.
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information
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What is (are) Ambras syndrome?
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Ambras syndrome is a very rare type of hypertrichosis lanuginosa congenita, a congenital skin disease characterized by excessive hair growth on the entire body, with the exception of the palms, soles, and mucous membranes. Individuals with Ambras syndrome have excessive growth of vellus (soft, fine and short) hair, especially on the face, ears, and shoulders. Facial and dental abnormalities may also be present. Ambras syndrome has been mapped to the short (q) arm of chromosome 8. It appears to follow an autosomal dominant pattern of inheritance.
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information
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What is (are) Coronary Heart Disease?
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Espaol Coronary heart disease (CHD) is a disease in which a waxy substance called plaque builds up inside the coronary arteries. These arteries supply oxygen-rich blood to your heart muscle. When plaque builds up in the arteries, the condition is called atherosclerosis. The buildup of plaque occurs over many years. Atherosclerosis Over time, plaque can harden or rupture (break open). Hardened plaque narrows the coronary arteries and reduces the flow of oxygen-rich blood to the heart. If the plaque ruptures, a blood clot can form on its surface. A large blood clot can mostly or completely block blood flow through a coronary artery. Over time, ruptured plaque also hardens and narrows the coronary arteries. Overview If the flow of oxygen-rich blood to your heart muscle is reduced or blocked, angina or a heart attack can occur. Angina is chest pain or discomfort. It may feel like pressure or squeezing in your chest. The pain also can occur in your shoulders, arms, neck, jaw, or back. Angina pain may even feel like indigestion. A heart attack occurs if the flow of oxygen-rich blood to a section of heart muscle is cut off. If blood flow isnt restored quickly, the section of heart muscle begins to die. Without quick treatment, a heart attack can lead to serious health problems or death. Over time, CHD can weaken the heart muscle and lead to heart failure and arrhythmias. Heart failure is a condition in which your heart can't pump enough blood to meet your bodys needs. Arrhythmias are problems with the rate or rhythm of the heartbeat. Outlook Lifestyle changes, medicines, and medical procedures can help prevent or treat coronary heart disease. These treatments may reduce the risk of related health problems.
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information
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What is (are) Mucopolysaccharidosis type I?
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Mucopolysaccharidosis I (MPS I) is a condition that affects many parts of the body. It is a progressively debilitating disorder; however, the rate of progression varies among affected individuals. MPS I is caused by mutations in the IDUA gene. These mutations lead to reduced levels or the complete lack of the IDUA enzyme. Without the proper amount of this enzyme, large sugar molecules called glycosaminoglycans (GAGs) accumulate within cells called lysosomes. This causes the lysosomes to increase in size, causing many different organs and tissues of the body to become enlarged. This leads to the medical problems seen in the condition. MPS I was once divided into three separate syndromes: Hurler syndrome, Hurler-Scheie syndrome, and Scheie syndrome, listed from most to least severe. Because no biochemical differences have been identified and the clinical findings overlap, the condition is now divided into two subtypes, severe MPS I and attenuated MPS I. People with severe MPS I typically have an earlier onset of symptoms, a decline in intellectual function, and a shorter lifespan. Although there is no cure for MPS I, bone marrow transplant and enzyme replacement therapy are treatment options that may help manage the symptoms of this condition.
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inheritance
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Is cerebrotendinous xanthomatosis inherited?
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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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susceptibility
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Who is at risk for Knee Replacement??
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Because a fall can damage your new knee, making your home a safe place is crucial. Before your surgery, look for and correct hazards, including cluttered floors, loose electrical cords, unsecured rugs, and dark hallways. A raised toilet seat can make it easier to get up and down. Grab bars in the tub can keep you steady.
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susceptibility
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Who is at risk for Heart Failure??
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About 5.7 million people in the United States have heart failure. The number of people who have this condition is growing. Heart failure is more common in: People who are age 65 or older. Aging can weaken the heart muscle. Older people also may have had diseases for many years that led to heart failure. Heart failure is a leading cause of hospital stays among people on Medicare. Blacks are more likely to have heart failure than people of other races. Theyre also more likely to have symptoms at a younger age, have more hospital visits due to heart failure, and die from heart failure. People who areoverweight. Excess weight puts strain on the heart. Being overweight also increases your risk of heart disease and type 2diabetes. These diseases can lead to heart failure. People who have had a heart attack. Damage to the heart muscle from a heart attack and can weaken the heart muscle. Children who havecongenital heart defectsalso can develop heart failure. These defects occur if the heart, heart valves, or blood vessels near the heart dont form correctly while a baby is in the womb. Congenital heart defects can make the heart work harder. This weakens the heart muscle, which can lead to heart failure. Children dont have the same symptoms of heart failure or get the same treatments as adults. This Health Topic focuses on heart failure in adults.
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treatment
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What are the treatments for Chronic Lymphocytic Leukemia?
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Key Points - There are different types of treatment for patients with chronic lymphocytic leukemia. - Five types of standard treatment are used: - Watchful waiting - Radiation therapy - Chemotherapy - Surgery - Targeted therapy - New types of treatment are being tested in clinical trials. - Chemotherapy with stem cell transplant - Biologic therapy - Chimeric antigen receptor (CAR) T-cell 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 chronic lymphocytic leukemia. Different types of treatment are available for patients with chronic lymphocytic leukemia. 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. Five types of standard treatment are used: Watchful waiting Watchful waiting is closely monitoring a patients condition without giving any treatment until signs or symptoms appear or change. This is also called observation. During this time, problems caused by the disease, such as infection, are treated. 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. External radiation therapy is used to treat chronic lymphocytic leukemia. 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, or the drugs mainly affect cancer cells in those areas (regional chemotherapy). The way the chemotherapy is given depends on the type and stage of the cancer being treated. See Drugs Approved for Chronic Lymphocytic Leukemia for more information. Surgery Splenectomy is surgery to remove the spleen. 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, tyrosine kinase inhibitor therapy, and BCL2 inhibitor therapy are types of targeted therapy used in the treatment of chronic lymphocytic leukemia. 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 in the body 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. They may be used alone or to carry drugs, toxins, or radioactive material directly to cancer cells. Tyrosine kinase inhibitor therapy is a cancer treatment that blocks signals needed for tumors to grow. BCL2 inhibitor therapy is a cancer treatment that blocks a protein called BCL2. BCL2 inhibitor therapy may kill cancer cells and may make them more sensitive to other anticancer drugs. See Drugs Approved for Chronic Lymphocytic Leukemia for more information. 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. Chemotherapy with stem cell transplant Chemotherapy with stem cell transplant is a method of giving chemotherapy and replacing blood -forming cells destroyed by the cancer treatment. Stem cells (immature blood cells) are removed from the blood or bone marrow of the patient or a donor and are frozen and stored. After the chemotherapy is 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 bodys blood cells. 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. Chimeric antigen receptor (CAR) T-cell therapy CAR T-cell therapy is a type of immunotherapy that changes the patient's T cells (a type of immune system cell) so they will attack certain proteins on the surface of cancer cells. T cells are taken from the patient and special receptors are added to their surface in the laboratory. The changed cells are called chimeric antigen receptor (CAR) T cells. The CAR T cells are grown in the laboratory and given to the patient by infusion. The CAR T cells multiply in the patient's blood and attack cancer cells. CAR T-cell therapy is being studied in the treatment of chronic lymphocytic leukemia. 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 by Stage Stage 0 Chronic Lymphocytic Leukemia Treatment of stage 0 chronic lymphocytic leukemia is usually watchful waiting. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage 0 chronic lymphocytic leukemia. 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. Stage I, Stage II, Stage III, and Stage IV Chronic Lymphocytic Leukemia Treatment of stage I, stage II, stage III, and stage IV chronic lymphocytic leukemia may include the following: - Watchful waiting when there are few or no signs or symptoms. - Targeted therapy with a monoclonal antibody, a tyrosine kinase inhibitor, or a BCL2 inhibitor. - Chemotherapy with 1 or more drugs, with or without steroids or monoclonal antibody therapy. - Low-dose external radiation therapy to areas of the body where cancer is found, such as the spleen or lymph nodes. - A clinical trial of chemotherapy and biologic therapy with stem cell transplant. - A clinical trial of a new treatment. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage I chronic lymphocytic leukemia, stage II chronic lymphocytic leukemia, stage III chronic lymphocytic leukemia and stage IV chronic lymphocytic leukemia. 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.
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treatment
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What are the treatments for Dyggve-Melchior-Clausen syndrome?
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How might Dyggve-Melchior-Clausen syndrome be treated? Treatment of individuals with DMC syndrome depends on the affected person's symptoms and is usually supportive. There is no cure for this condition. Treatments might include spinal fusion of the segments of the spinal column at the top of the spine or other means of vertebral stabilization. Additional surgical techniques may be used to correct various skeletal abnormalities such as dislocation of the shoulder and hip joints. In some cases, hip replacement is required. Children with DMC syndrome may benefit from early intervention and special educational programs.
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symptoms
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What are the symptoms of Anemia of Inflammation and Chronic Disease?
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Anemia of inflammation and chronic disease typically develops slowly and, because it is usually mild, may cause few or no symptoms. Symptoms of anemia may also be masked by the symptoms of the underlying disease. Sometimes, AI/ACD can cause or contribute to - fatigue - weakness - pale skin - a fast heartbeat - shortness of breath - exercise intolerance.
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genetic changes
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What are the genetic changes related to Chronic Myelogenous Leukemia?
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Most people with CML have a gene mutation (change) called the Philadelphia chromosome. Every cell in the body contains DNA (genetic material) that determines how the cell looks and acts. DNA is contained inside chromosomes. In CML, part of the DNA from one chromosome moves to another chromosome. This change is called the Philadelphia chromosome. It results in the bone marrow making an enzyme, called tyrosine kinase, that causes too many stem cells to become white blood cells (granulocytes or blasts). The Philadelphia chromosome is not passed from parent to child.
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information
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What is (are) Hereditary leiomyomatosis and renal cell cancer?
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Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a condition that causes benign tumors of smooth muscle tissue in the skin (cutaneous leiomyomas) and in the uterus in females (uterine leiomyomas, or fibroids). The condition also increases the risk of kidney cancer. Signs and symptoms usually begin in adulthood as skin growths appear on the torso, arms, legs, and occasionally on the face. They tend to increase in size and number over time. About 10% to 16% of people with HLRCC develop a type of kidney cancer called renal cell cancer; symptoms of this cancer may include lower back pain, blood in the urine, and/or a mass in the kidney that can be felt by a physician. Some people have no symptoms until the cancer is advanced. HLRCC is caused by mutations in the FH gene and is inherited in an autosomal dominant manner.
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symptoms
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What are the symptoms of Exstrophy of the bladder?
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What are the signs and symptoms of Exstrophy of the bladder? The Human Phenotype Ontology provides the following list of signs and symptoms for Exstrophy of the bladder. 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 female external genitalia 90% Displacement of the external urethral meatus 90% Exstrophy 90% Hypoplasia of penis 90% Umbilical hernia 90% Vesicoureteral reflux 90% Recurrent urinary tract infections 50% Bowel incontinence 7.5% Intestinal malrotation 7.5% Omphalocele 7.5% Abnormality of pelvic girdle bone morphology - Anteriorly placed anus - Autosomal dominant inheritance - Bladder exstrophy - Epispadias - Horseshoe kidney - Hydroureter - Inguinal hernia - Unilateral renal agenesis - 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.
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information
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What is (are) Childbirth Problems?
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While childbirth usually goes well, complications can happen. They can cause a risk to the mother, baby, or both. Possible complications include - Preterm (premature) labor, when labor starts before 37 completed weeks of pregnancy - Problems with the umbilical cord - Problems with the position of the baby, such as breech, in which the baby is going to come out feet first - Birth injuries For some of these problems, the baby may need to be delivered surgically by a Cesarean section.
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