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What are the treatments for deoxyguanosine kinase deficiency ? | These resources address the diagnosis or management of deoxyguanosine kinase deficiency: - Gene Review: Gene Review: DGUOK-Related Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form - Genetic Testing Registry: Mitochondrial DNA-depletion syndrome 3, hepatocerebral - MedlinePlus Encyclopedia: Hypotonia These... | [
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What is (are) Polyarteritis nodosa ? | Polyarteritis nodosa is a serious blood vessel disease in which medium-sized arteries become swollen and damaged. It occurs when certain immune cells attack the affected arteries preventing vital oxygen and nourishment. Signs and symptoms may include fever, fatigue, weakness, loss of appetite, weight loss, muscle and j... | [
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Is mucolipidosis II alpha/beta inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. | [
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What are the symptoms of Pulmonary alveolar microlithiasis ? | What are the signs and symptoms of Pulmonary alveolar microlithiasis? The Human Phenotype Ontology provides the following list of signs and symptoms for Pulmonary alveolar microlithiasis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use t... | [
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How many people are affected by inclusion body myopathy 2 ? | More than 200 people with inclusion body myopathy 2 have been reported. Most are of Iranian Jewish descent; the condition affects an estimated 1 in 1,500 people in this population. Additionally, at least 15 people in the Japanese population have been diagnosed with this disorder. Inclusion body myopathy 2 has also been... | [
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How to prevent Parasites - Scabies ? | When a person is infested with scabies mites the first time, symptoms may not appear for up to two months after being infested. However, an infested person can transmit scabies, even if they do not have symptoms. Scabies usually is passed by direct, prolonged skin-to-skin contact with an infested person. However, a per... | [
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What is (are) Warm antibody hemolytic anemia ? | Warm antibody hemolytic anemia is the most common form of autoimmune hemolytic anemia. It is defined by the presence of autoantibodies that attach to and destroy red blood cells at temperatures equal to or greater than normal body temperature. The disease is characterized by symptoms related to anemia, including fatig... | [
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What are the symptoms of Asthma ? | Common signs and symptoms of asthma include:
Coughing. Coughing from asthma often is worse at night or early in the morning, making it hard to sleep.
Wheezing. Wheezing is a whistling or squeaky sound that occurs when you breathe.
Chest tightness. This may feel like so... | [
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What is (are) Colorectal Cancer ? | The colon and rectum are part of the large intestine. Colorectal cancer occurs when tumors form in the lining of the large intestine. It is common in both men and women. The risk of developing colorectal cancer rises after age 50. You're also more likely to get it if you have colorectal polyps, a family history of colo... | [
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What are the treatments for Rheumatoid Arthritis ? | Medication, exercise, and, in some cases, surgery are common treatments for this disease. Most people who have rheumatoid arthritis take medications. Some drugs only provide relief for pain; others reduce inflammation. People with rheumatoid arthritis can also benefit from exercise, but they need to maintain a good bal... | [
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What to do for Urinary Tract Infection In Adults ? | - Most urinary tract infections (UTIs) arise from one type of bacteria, Escherichia coli (E. coli), which normally lives in the bowel. - Symptoms of a UTI in adults may include the following: - a frequent and intense urge to urinate - a painful, burning feeling in the bladder or urethra during urination - f... | [
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What are the treatments for Microscopic Colitis: Collagenous Colitis and Lymphocytic Colitis ? | Treatment depends on the severity of symptoms. The gastroenterologist will
- review the medications the person is taking - make recommendations to change or stop certain medications - recommend that the person quit smoking
The gastroenterologist may prescribe medications to help cont... | [
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What are the treatments for Plasma Cell Neoplasms (Including Multiple Myeloma) ? | Key Points
- There are different types of treatment for patients with plasma cell neoplasms. - Eight types of treatment are used: - Chemotherapy - Other drug therapy - Targeted therapy - High-dose chemotherapy with stem cell transplant - Biologic therapy - Radiation th... | [
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What is the outlook for Multiple Sclerosis ? | A physician may diagnose MS in some patients soon after the onset of the illness. In others, however, doctors may not be able to readily identify the cause of the symptoms, leading to years of uncertainty and multiple diagnoses punctuated by baffling symptoms that mysteriously wax and wane. The vast majority of patient... | [
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What are the symptoms of High molecular weight kininogen deficiency ? | What are the signs and symptoms of High molecular weight kininogen deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for High molecular weight kininogen deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condit... | [
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What are the symptoms of Fibrolamellar carcinoma ? | What are the signs and symptoms of Fibrolamellar carcinoma? Many people with early fibrolamellar carcinoma (FLC) have no signs or symptoms of the condition. When present, symptoms are often nonspecific and blamed on other, more common conditions. Some people affected by FLC may experience the following: Abdominal pain ... | [
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What are the symptoms of Joubert syndrome ? | What are the signs and symptoms of Joubert syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Joubert 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 ... | [
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What causes Schindler disease type 1 ? | What causes Schindler disease type 1? Schindler disease type 1 is caused by mutations in the NAGA gene. This gene provides instructions for making the enzyme alpha-N-acetylgalactosaminidase.This enzyme works in the lysosomes (compartments within cells that digest and recycle materials) to help break down complexes cal... | [
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What is (are) Diabetes, Heart Disease, and Stroke ? | Two major types of heart and blood vessel disease, also called cardiovascular disease, are common in people with diabetes: coronary artery disease (CAD) and cerebral vascular disease. People with diabetes are also at risk for heart failure. Narrowing or blockage of the blood vessels in the legs, a condition called peri... | [
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What is (are) Parkinson's Disease ? | Parkinson's disease (PD) belongs to a group of conditions called motor system disorders, which are the result of the loss of dopamine-producing brain cells. The four primary symptoms of PD are tremor, or trembling in hands, arms, legs, jaw, and face; rigidity, or stiffness of the limbs and trunk; bradykinesia, or slown... | [
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What is (are) Adrenal Gland Disorders ? | The adrenal glands are small glands located on top of each kidney. They produce hormones that you can't live without, including sex hormones and cortisol. Cortisol helps you respond to stress and has many other important functions. With adrenal gland disorders, your glands make too much or not enough hormones. In Cu... | [
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What is (are) Pseudotumor Cerebri ? | Pseudotumor cerebri literally means "false brain tumor." It is likely due to high pressure within the skull caused by the buildup or poor absorption of cerebrospinal fluid (CSF). The disorder is most common in women between the ages of 20 and 50. Symptoms of pseudotumor cerebri, which include headache, nausea, vomiting... | [
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Who is at risk for Sexual and Urologic Problems of Diabetes? ? | Risk factors are conditions that increase the chances of getting a particular disease. The more risk factors people have, the greater their chances of developing that disease or condition. Diabetic neuropathy and related sexual and urologic problems appear to be more common in people who
- have poor bl... | [
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How many people are affected by ethylmalonic encephalopathy ? | About 30 individuals with this condition have been identified worldwide, mostly in Mediterranean and Arab populations. Although ethylmalonic encephalopathy appears to be very rare, researchers suggest that some cases have been misdiagnosed as other neurologic disorders. | [
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How many people are affected by spastic paraplegia type 4 ? | The prevalence of spastic paraplegia type 4 is estimated to be 2 to 6 in 100,000 people worldwide. | [
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What are the treatments for pulmonary veno-occlusive disease ? | These resources address the diagnosis or management of pulmonary veno-occlusive disease: - Genetic Testing Registry: Pulmonary veno-occlusive disease These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and ... | [
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What are the treatments for Penile Cancer ? | Key Points
- There are different types of treatment for patients with penile cancer. - Four types of standard treatment are used: - Surgery - Radiation therapy - Chemotherapy - Biologic therapy - New types of treatment are being tested in clinical trials. - Radi... | [
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Is severe congenital neutropenia inherited ? | Most cases of severe congenital neutropenia are classified as sporadic and occur in people with no apparent history of the disorder in their family. Some of these cases are associated with changes in specific genes; however in some cases the cause of the disorder is unknown. Many cases of severe congenital neutropenia... | [
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What is (are) Toilet Training ? | Is your child ready to use a potty? The more important question may be, are you? Children are usually ready around ages 18-24 months. They often signal that they are ready by letting you know when their diapers need changing. You should be prepared to commit to three months of daily encouragement. Successful trips to t... | [
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What are the symptoms of Valinemia ? | What are the signs and symptoms of Valinemia? Valinemia is thought to be extremely rare and has been described in only a few people. The condition is reportedly present from birth. Symptoms in the newborn period include lack of appetite, protein intolerance, metabolic acidosis, frequent vomiting, failure to thrive, and... | [
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What is (are) Congenital contractural arachnodactyly ? | Congenital contractural arachnodactyly (CCA) is a genetic disorder that is typically characterized by tall height; skinny, long limbs; long, skinny fingers and toes (arachnodactyly); multiple joint deformities present at birth (congenital contractures), usually of the elbows, knees, hips, fingers and ankles; "crumpled"... | [
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What is (are) Nutrition for Advanced Chronic Kidney Disease in Adults ? | Most peoplewith or without CKDcan get the daily protein they need by eating two 3-ounce servings of meat or meat substitute. A 3-ounce serving of meat is about the size of a deck of cards or the palm of a persons hand.
A renal dietitian can help people learn about the amount and sources of protein in t... | [
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What are the symptoms of Cone-rod dystrophy X-linked 2 ? | What are the signs and symptoms of Cone-rod dystrophy X-linked 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Cone-rod dystrophy X-linked 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Medli... | [
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What are the treatments for Urachal cancer ? | How might urachal cancer be treated? Surgical resection in the form of partial (segmental) or radical cystoprostatectomy is the main form of treatment. However, similar results are seen with a conservative surgery that involves partial cystectomy with umbilicotomy and removal of the urachus. The role of chemotherapy an... | [
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What are the treatments for Postural Tachycardia Syndrome ? | Therapies for POTS are targeted at relieving low blood volume or regulating circulatory problems that could be causing the disorder. No single treatment has been found to be effect for all. A number of drugs seem to be effective in the short term. Whether they help in long term is uncertain. Simple interventions such a... | [
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What are the symptoms of Pterygium colli mental retardation digital anomalies ? | What are the signs and symptoms of Pterygium colli mental retardation digital anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Pterygium colli mental retardation digital anomalies. If the information is available, the table below includes how often the symptom is seen in peo... | [
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What are the complications of Alagille Syndrome ? | The complications of Alagille syndrome include liver failure, portal hypertension, and growth problems. People with Alagille syndrome usually have a combination of complications, and may not have every complication listed below.
Liver failure. Over time, the decreased number of bile ducts may lead to c... | [
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Is molybdenum cofactor deficiency inherited ? | Molybdenum cofactor deficiency has an autosomal recessive pattern of inheritance, which means both copies of the gene in each cell have mutations. An affected individual usually inherits one altered copy of the gene from each parent. Parents of an individual with an autosomal recessive condition typically do not show s... | [
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What are the treatments for Hermansky-Pudlak syndrome ? | These resources address the diagnosis or management of Hermansky-Pudlak syndrome: - Gene Review: Gene Review: Hermansky-Pudlak Syndrome - Genetic Testing Registry: Hermansky-Pudlak syndrome - Genetic Testing Registry: Hermansky-Pudlak syndrome 1 - MedlinePlus Encyclopedia: Albinism - MedlinePlus Encyclopedia: Coli... | [
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Do you have information about Antibiotic Resistance | Summary : Antibiotics are medicines that fight bacterial infections. Used properly, they can save lives. But there is a growing problem of antibiotic resistance. It happens when bacteria change and become able to resist the effects of an antibiotic. Using antibiotics can lead to resistance. Each time you take antib... | [
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What are the genetic changes related to pseudohypoaldosteronism type 1 ? | Mutations in one of four different genes involved in sodium regulation cause autosomal dominant or autosomal recessive PHA1. Mutations in the NR3C2 gene cause autosomal dominant PHA1. This gene provides instructions for making the mineralocorticoid receptor protein. Mutations in the SCNN1A, SCNN1B, or SCNN1G genes caus... | [
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How to diagnose Diabetic mastopathy ? | How is diabetic mastopathy diagnosed? The diagnosis of diabetic mastopathy should be considered in patients with long-standing insulin-dependent diabetes and a firm, mobile breast mass. Initial imaging may include mammography and ultrasound. While these methods can help to further differentiate the mass, they cannot pr... | [
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What is (are) Pilomatrixoma ? | Pilomatrixoma is a benign (non-cancerous) skin tumor of the hair follicle (structure in the skin that makes hair). They tend to develop in the head and neck area and are usually not associated with any other signs and symptoms (isolated). Rarely, pilomatrixomas can become cancerous (known as a pilomatrix carcinoma). Al... | [
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What are the symptoms of Neuhauser Daly Magnelli syndrome ? | What are the signs and symptoms of Neuhauser Daly Magnelli syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Neuhauser Daly Magnelli syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the... | [
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What are the treatments for Wallenberg's Syndrome ? | Treatment for Wallenberg's syndrome is symptomatic. A feeding tube may be necessary if swallowing is very difficult. Speech/swallowing therapy may be beneficial. In some cases, medication may be used to reduce or eliminate pain. Some doctors report that the anti-epileptic drug gabapentin appears to be an effective medi... | [
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What are the genetic changes related to anhidrotic ectodermal dysplasia with immune deficiency ? | Mutations in the IKBKG gene cause X-linked recessive EDA-ID, and mutations in the NFKBIA gene cause autosomal dominant EDA-ID. The proteins produced from these two genes regulate nuclear factor-kappa-B. Nuclear factor-kappa-B is a group of related proteins (a protein complex) that binds to DNA and controls the activity... | [
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What are the genetic changes related to Mainzer-Saldino syndrome ? | Mainzer-Saldino syndrome is usually caused by mutations in the IFT140 gene. This gene provides instructions for making a protein that is involved in the formation and maintenance of cilia, which are microscopic, finger-like projections that stick out from the surface of cells and participate in signaling pathways that ... | [
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What is the outlook for Transitional Cell Cancer of the Renal Pelvis and Ureter ? | Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) depends on the stage and grade of the tumor. The treatment options depend on the following: - The stage and grade of the tumor. - Where the tumor is. - Whether the patient's other kidney is h... | [
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How to diagnose Parasites - Cyclosporiasis (Cyclospora Infection) ? | Clinical Diagnosis
Health care providers should consider Cyclospora as a potential cause of prolonged diarrheal illness, particularly in patients with a history of recent travel to Cyclospora-endemic areas. Testing for Cyclospora is not routinely done in most U.S. laboratories, even when stool is tested for parasi... | [
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What causes Norrie disease ? | What causes Norrie disease? Norrie disease is caused by a change (mutation) in the NDP gene, which is located on the X chromosome. It is inherited in an X-linked recessive manner. The NDP gene provides instructions for making a protein called norrin, which affects the way cells and tissues develop. In particular, the n... | [
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What is (are) Chromosome 14q deletion ? | Chromosome 14q deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the long arm (q) of chromosome 14. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occu... | [
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Is desmoid tumor inherited ? | Most desmoid tumors are sporadic and are not inherited. Sporadic tumors result from gene mutations that occur during a person's lifetime, called somatic mutations. A somatic mutation in one copy of the gene is sufficient to cause the disorder. Somatic mutations in either the CTNNB1 or the APC gene can cause sporadic de... | [
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What is (are) Nonbullous congenital ichthyosiform erythroderma ? | Nonbullous congenital ichthyosiform erythroderma (NBCIE) is a specific type of ichthyosis mainly affecting the skin. Most infants with NBCIE are born with a tight, shiny covering on their skin, called a collodion membrane, which is typically shed within a few weeks. Other signs and symptoms include redness of the skin ... | [
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How to diagnose Peripheral Arterial Disease (P.A.D.) ? | Your Family and Medical History P.A.D. is diagnosed based on a person's medical and family histories, a physical exam, and results from medical tests. To learn about your medical and family histories, your doctor may ask about - your risk factors for P.A.D. For example, he or she may ask whether you smoke or have diabe... | [
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What are the symptoms of Spastic paraplegia facial cutaneous lesions ? | What are the signs and symptoms of Spastic paraplegia facial cutaneous lesions? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia facial cutaneous lesions. If the information is available, the table below includes how often the symptom is seen in people with this cond... | [
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What are the treatments for Dermatitis herpetiformis ? | How might dermatitis herpetiformis be treated? The antibiotic dapsone is extremely effective in treating this condition. Symptomatic improvement may occur in as little as several hours after the first dose. However, dapsone may cause serious side effects and requires regular monitoring by a physician. When this medicat... | [
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How many people are affected by Aicardi-Goutieres syndrome ? | Aicardi-Goutieres syndrome is a rare disorder. Its exact prevalence is unknown. | [
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What is (are) Kidney Failure: Eat Right to Feel Right on Hemodialysis ? | Before you were on dialysis, your doctor may have told you to follow a low-protein diet. Being on dialysis changes this. Most people on dialysis are encouraged to eat as much high-quality protein as they can. Protein helps you keep muscle and repair tissue. The better nourished you are, the healthier you will be. You w... | [
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What is (are) Living with HIV/AIDS ? | Infection with HIV is serious. But the outlook for people with HIV/AIDS is improving. If you are infected with HIV, there are many things you can do to help ensure you have a longer, healthier life. One important thing is to take your medicines. Make sure you have a health care provider who knows how to treat HIV. You ... | [
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What is (are) central core disease ? | Central core disease is a disorder that affects muscles used for movement (skeletal muscles). This condition causes muscle weakness that ranges from almost unnoticeable to very severe. Most people with central core disease experience persistent, mild muscle weakness that does not worsen with time. This weakness affect... | [
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How to prevent Diabetes, Heart Disease, and Stroke ? | Even if you are at high risk for heart disease and stroke, you can help keep your heart and blood vessels healthy. You can do so by taking the following steps:
- Make sure that your diet is "heart-healthy." Meet with a registered dietitian to plan a diet that meets these goals: - Include at least ... | [
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What is (are) progressive external ophthalmoplegia ? | Progressive external ophthalmoplegia is a condition characterized by weakness of the eye muscles. The condition typically appears in adults between ages 18 and 40. The most common signs and symptoms of progressive external ophthalmoplegia are drooping eyelids (ptosis), which can affect one or both eyelids, and weakness... | [
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What are the symptoms of Spastic paraplegia 51 ? | 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 D... | [
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What is (are) Gum (Periodontal) Disease ? | An Infection of the Gums and Surrounding Tissues Gum (periodontal) disease is an infection of the gums and surrounding tissues that hold teeth in place. The two forms of gum disease are gingivitis, a mild form that is reversible with good oral hygiene, and periodontitis, a more severe form that can damage the soft tiss... | [
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How many people are affected by glutaric acidemia type I ? | Glutaric acidemia type I occurs in approximately 1 of every 30,000 to 40,000 individuals. It is much more common in the Amish community and in the Ojibwa population of Canada, where up to 1 in 300 newborns may be affected. | [
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What are the symptoms of Skin Cancer ? | Skin cancer is usually visible. Changes in your skin, such as lumps, scabs, red spots, rough patches, or new or irregular moles should be reported to your doctor. You should also see a doctor if you have a mole, birthmark, or other pigmented area of skin that can be classified by the ABCDE symptom system. ABCDE stands ... | [
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What are the genetic changes related to congenital plasminogen deficiency ? | Congenital plasminogen deficiency is caused by mutations in the PLG gene. This gene provides instructions for making a protein called plasminogen. Enzymes called plasminogen activators convert plasminogen into the protein plasmin, which breaks down another protein called fibrin. Fibrin is the main protein involved in b... | [
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What are the symptoms of Alveolar capillary dysplasia ? | What are the signs and symptoms of Alveolar capillary dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Alveolar capillary dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Medline... | [
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How many people are affected by benign chronic pemphigus ? | Benign chronic pemphigus is a rare condition; its prevalence is unknown. | [
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What are the symptoms of Autosomal recessive spastic ataxia 4 ? | What are the signs and symptoms of Autosomal recessive spastic ataxia 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal recessive spastic ataxia 4. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can... | [
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What causes Psoriasis ? | Although the cause of psoriasis is not completely understood, scientists believe it is related to a problem with a type of blood cells called T cells. These cells normally travel through the bloodstream to help fight an infection, but in people with psoriasis, they attack the bodys skin cells by mistake. Genes Play a R... | [
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How to diagnose Urinary Retention ? | A health care provider diagnoses acute or chronic urinary retention with
- a physical exam - postvoid residual measurement
A health care provider may use the following medical tests to help determine the cause of urinary retention:
- cystoscopy - computerized tomogra... | [
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What are the treatments for Hypochondroplasia ? | How might hypochondroplasia be treated? The evaluation of children with hypochondroplasia usually does not differ significantly from the evaluation of children with normal stature, except for genetic counseling issues (such as risk of recurrence) and dealing with parental concerns about short stature. Management of sho... | [
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What are the symptoms of Uterine Sarcoma ? | Signs of uterine sarcoma include abnormal bleeding. Abnormal bleeding from the vagina and other signs and symptoms may be caused by uterine sarcoma or by other conditions. Check with your doctor if you have any of the following: - Bleeding that is not part of menstrual periods. - Bleeding after menopause. ... | [
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What is (are) Disabilities ? | Disabilities make it harder to do normal daily activities. They may limit what you can do physically or mentally, or they can affect your senses. Disability doesn't mean unable, and it isn't a sickness. Most people with disabilities can - and do - work, play, learn, and enjoy full, healthy lives. Mobility aids and assi... | [
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What are the treatments for CADASIL ? | How might CADASIL be treated? There is currently no treatment for CADASIL that is proven to be effective. While antiplatelet treatment is often used, it is also not proven to be useful. Migraine should be treated both symptomatically and prophylactically (with preventative methods), depending on the frequency of sympto... | [
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What are the treatments for Testicular Cancer ? | Key Points
- There are different types of treatment for patients with testicular cancer. - Testicular tumors are divided into 3 groups, based on how well the tumors are expected to respond to treatment. - Good Prognosis - Intermediate Prognosis - Poor Prognosis - Five type... | [
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What is (are) triosephosphate isomerase deficiency ? | Triosephosphate isomerase deficiency is a disorder characterized by a shortage of red blood cells (anemia), movement problems, increased susceptibility to infection, and muscle weakness that can affect breathing and heart function. The anemia in this condition begins in infancy. Since the anemia results from the prema... | [
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What is (are) Vulvar Disorders ? | The vulva is the external part of a woman's genitals. Some problems you can have with the vulvar area include - Bacterial or fungal infections - Skin problems due to allergy - Vulvar cancer - Vulvodynia, or vulvar pain Symptoms may include redness, itching, pain, or cracks in the skin. Treatme... | [
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How to diagnose Penile Cancer ? | Tests that examine the penis are used to detect (find) and diagnose penile 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 the penis for signs of disease, such as lumps or anything else that seems un... | [
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What is (are) Myhre syndrome ? | Myhre syndrome is a condition with features affecting many systems and functions of the body. People with Myhre syndrome usually have delayed development of language and motor skills such as crawling and walking. Most have intellectual disability that ranges from mild to moderate. Some have behavioral issues such as f... | [
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What are the genetic changes related to congenital afibrinogenemia ? | Congenital afibrinogenemia results from mutations in one of three genes, FGA, FGB, or FGG. Each of these genes provides instructions for making one part (subunit) of a protein called fibrinogen. This protein is important for blood clot formation (coagulation), which is needed to stop excessive bleeding after injury. In... | [
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What is (are) Diabetes mellitus type 1 ? | Diabetes mellitus type 1 (DM1) is a condition in which cells in the pancreas (beta cells) stop producing insulin, causing abnormally high blood sugar levels. Lack of insulin results in the inability of the body to use glucose for energy and control the amount of sugar in the blood. DM1 can occur at any age, but usually... | [
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What are the symptoms of Cornelia de Lange syndrome ? | What are the signs and symptoms of Cornelia de Lange syndrome? The signs and symptoms of Cornelia de Lange syndrome (CdLS) vary widely among affected people and can range from relatively mild to severe. Affected people may experience: Slowed growth before and after birth Intellectual disability Developmental delay Auti... | [
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What is (are) Small Intestine Disorders ? | Your small intestine is the longest part of your digestive system - about twenty feet long! It connects your stomach to your large intestine (or colon) and folds many times to fit inside your abdomen. Your small intestine does most of the digesting of the foods you eat. It has three areas called the duodenum, the ileum... | [
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What are the symptoms of X-linked creatine deficiency ? | What are the signs and symptoms of X-linked creatine deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked creatine deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Medline... | [
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What are the treatments for Sideroblastic anemia ? | How might sideroblastic anemia be treated? The treatment of sideroblastic anemia is directed at controlling symptoms of anemia and preventing organ damage from iron overload. Many patients see improvement with increased vitamin B6 intake - either through diet (potatoes, bananas, raisin bran cereal, lentils, liver, turk... | [
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What is (are) Neuromuscular Disorders ? | Neuromuscular disorders affect the nerves that control your voluntary muscles. Voluntary muscles are the ones you can control, like in your arms and legs. Your nerve cells, also called neurons, send the messages that control these muscles. When the neurons become unhealthy or die, communication between your nervous sys... | [
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What is (are) Craniosynostosis ? | Craniosynostosis is a birth defect of the skull characterized by the premature closure of one or more of the fibrous joints between the bones of the skull (called the cranial sutures) before brain growth is complete. Closure of a single suture is most common. Normally the skull expands uniformly to accommodate the grow... | [
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What is (are) Peripheral Arterial Disease ? | Peripheral arterial disease (PAD) happens when there is a narrowing of the blood vessels outside of your heart. The cause of PAD is atherosclerosis. This happens when plaque builds up on the walls of the arteries that supply blood to the arms and legs. Plaque is a substance made up of fat and cholesterol. It causes the... | [
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How to diagnose Gallstones ? | A health care provider will usually order an ultrasound exam to diagnose gallstones. Other imaging tests may also be used.
- Ultrasound exam. Ultrasound uses a device, called a transducer, that bounces safe, painless sound waves off organs to create an image of their structure. A specially trained tech... | [
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What are the treatments for Childhood Soft Tissue Sarcoma ? | Key Points
- There are different types of treatment for patients with childhood soft tissue sarcoma. - Children with childhood soft tissue sarcoma should have their treatment planned by a team of health care providers who are experts in treating cancer in children. - Treatment for childhood so... | [
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What causes Down syndrome ? | What causes Down syndrome? There are 3 possible genetic causes of Down syndrome: Trisomy 21. Most often, Down syndrome is caused by an extra chromosome 21 in all cells of the affected person. In these cases, the chromosome 21 pair fails to separate during the formation of an egg (or sperm); this is called "nondisjunct... | [
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What is (are) isolated growth hormone deficiency ? | Isolated growth hormone deficiency is a condition caused by a severe shortage or absence of growth hormone. Growth hormone is a protein that is necessary for the normal growth of the body's bones and tissues. Because they do not have enough of this hormone, people with isolated growth hormone deficiency commonly experi... | [
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What are the symptoms of Primrose syndrome ? | What are the signs and symptoms of Primrose syndrome? Signs and symptoms of primrose syndrome that have been reported in the literature include: Severe learning disabilities Boney ear cartilage Cystic changes in to top of the arm and leg bones Cataracts (clouding of the lens of the eyes) Recurrent ear infections Hearin... | [
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What is (are) prostate cancer ? | Prostate cancer is a common disease that affects men, usually in middle age or later. In this disorder, certain cells in the prostate become abnormal and multiply without control or order to form a tumor. The prostate is a gland that surrounds the male urethra and helps produce semen, the fluid that carries sperm. Ear... | [
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Who is at risk for Shingles? ? | The leading risk factor for shingles is a history of having had chickenpox. One out of every five people who have had chickenpox is likely to get shingles. Another risk factor is aging. As we age, our natural immunity gradually loses its ability to protect against infection. The shingles virus can take advantage of thi... | [
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What are the symptoms of Short Bowel Syndrome ? | The main symptom of short bowel syndrome is diarrhealoose, watery stools. Diarrhea can lead to dehydration, malnutrition, and weight loss. Dehydration means the body lacks enough fluid and electrolyteschemicals in salts, including sodium, potassium, and chlorideto work properly. Malnutrition is a condition that develop... | [
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What causes Meesmann corneal dystrophy ? | What causes Meesmann corneal dystrophy? Meesmann corneal dystrophy is a genetic disease. It can be caused by mutations in either the KRT12 or KRT3 gene. These genes are thought to play an important role in maintaining normal corneal epithelial function. Meesmann corneal dystrophy is passed through families in an autoso... | [
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What are the symptoms of Benign paroxysmal positional vertigo ? | What are the signs and symptoms of Benign paroxysmal positional vertigo? The Human Phenotype Ontology provides the following list of signs and symptoms for Benign paroxysmal positional vertigo. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can... | [
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