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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 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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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 joint aches, and abdominal pain. The skin may show rashes, swelling, ulcers, and lumps. When nerve cells are involved numbness, pain, burning, and weakness may be present. Polyarteritis nodosa can cause serious health complications including strokes, seizures, and kidney failure. Treatment often includes steroids and other drugs to suppress the immune system.
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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 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 - Intraalveolar nodular calcifications - Onset - Progressive pulmonary function impairment - Restrictive respiratory insufficiency - Slow progression - 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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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 found in several other ethnic groups worldwide.
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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 person with crusted (Norwegian) scabies can spread the infestation by brief skin-to-skin contact or by exposure to bedding, clothing, or even furniture that he/she has used. Scabies is prevented by avoiding direct skin-to-skin contact with an infested person or with items such as clothing or bedding used by an infested person. Scabies treatment usually is recommended for members of the same household, particularly for those who have had prolonged skin-to-skin contact. All household members and other potentially exposed persons should be treated at the same time as the infested person to prevent possible reexposure and reinfestation. Bedding and clothing worn or used next to the skin anytime during the 3 days before treatment should be machine washed and dried using the hot water and hot dryer cycles or be dry-cleaned. Items that cannot be dry-cleaned or laundered can be disinfested by storing in a closed plastic bag for several days to a week. Scabies mites generally do not survive more than 2 to 3 days away from human skin. Children and adults usually can return to child care, school, or work the day after treatment. Persons with crusted scabies and their close contacts, including household members, should be treated rapidly and aggressively to avoid outbreaks. Institutional outbreaks can be difficult to control and require a rapid, aggressive, and sustained response. Rooms used by a patient with crusted scabies should be thoroughly cleaned and vacuumed after use. Environmental disinfestation using pesticide sprays or fogs generally is unnecessary and is discouraged.
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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 fatigue, difficulty breathing, jaundice and dark urine. In severe disease, fever, chest pain, syncope or heart failure may occur. Hemolysis (the breakdown of red blood cells) occurs mainly in the spleen, so mild splenomegaly is relatively common. Treatment typically involves a corticosteroid like prednisone. In cases that don't respond to treatment, splenectomy may be considered. Chronic and severe disease may be treated with Rituximab or immunosuppressive medications.
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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 something is squeezing or sitting on your chest. Shortness of breath. Some people who have asthma say they can't catch their breath or they feel out of breath. You may feel like you can't get air out of your lungs. Not all people who have asthma have these symptoms. Likewise, having these symptoms doesn't always mean that you have asthma. The best way to diagnose asthma for certain is to use a lung function test, a medical history (including type and frequency of symptoms), and a physical exam. The types of asthma symptoms you have, how often they occur, and how severe they are may vary over time. Sometimes your symptoms may just annoy you. Other times, they may be troublesome enough to limit your daily routine. Severe symptoms can be fatal. It's important to treat symptoms when you first notice them so they don't become severe. With proper treatment, most people who have asthma can expect to have few, if any, symptoms either during the day or at night. What Causes Asthma Symptoms To Occur? Many things can trigger or worsen asthma symptoms. Your doctor will help you find out which things (sometimes called triggers) may cause your asthma to flare up if you come in contact with them. Triggers may include: Allergens from dust, animal fur, cockroaches, mold, and pollens from trees, grasses, and flowers Irritants such as cigarette smoke, air pollution, chemicals or dust in the workplace, compounds in home dcor products, and sprays (such as hairspray) Medicines such as aspirin or other nonsteroidal anti-inflammatory drugs and nonselective beta-blockers Sulfites in foods and drinks Viral upper respiratory infections, such as colds Physical activity, including exercise Other health conditions can make asthma harder to manage. Examples of these conditions include a runny nose, sinus infections, reflux disease, psychological stress, and sleep apnea. These conditions need treatment as part of an overall asthma care plan. Asthma is different for each person. Some of the triggers listed above may not affect you. Other triggers that do affect you may not be on the list. Talk with your doctor about the things that seem to make your asthma worse.
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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 colorectal cancer, ulcerative colitis or Crohn's disease, eat a diet high in fat, or smoke. Symptoms of colorectal cancer include - Diarrhea or constipation - A feeling that your bowel does not empty completely - Blood (either bright red or very dark) in your stool - Stools that are narrower than usual - Frequent gas pains or cramps, or feeling full or bloated - Weight loss with no known reason - Fatigue - Nausea or vomiting Because you may not have symptoms at first, it's important to have screening tests. Everyone over 50 should get screened. Tests include colonoscopy and tests for blood in the stool. Treatments for colorectal cancer include surgery, chemotherapy, radiation, or a combination. Surgery can usually cure it when it is found early. NIH: National Cancer Institute
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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 balance between rest and exercise. They should get rest when the disease is active and get more exercise when it is not. In some cases, a doctor will recommend surgery to restore function or relieve pain in a damaged joint. Several types of surgery are available to patients with severe joint damage. Joint replacement and tendon reconstruction are examples.
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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 - feeling tired, shaky, and weak - muscle aches - abdominal pain - only small amounts of urine passed, despite a strong urge to urinate - cloudy, dark, or bloody urine or urine that has a foul smell - pain in the back or side below the ribs - nausea and vomiting - Fever may indicate a kidney or prostate infection. - Because bacteria can be found in the urine of healthy individuals, a UTI is diagnosed based both on symptoms and a laboratory test. - UTIs are treated with bacteria-fighting medications called antibiotics or antimicrobials.
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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 control symptoms. Medications are almost always effective in treating microscopic colitis. The gastroenterologist may recommend eating, diet, and nutrition changes. In rare cases, the gastroenterologist may recommend surgery. Medications The gastroenterologist may prescribe one or more of the following: - antidiarrheal medications such as bismuth subsalicylate (Kaopectate, Pepto-Bismol), diphenoxylate/atropine (Lomotil), and loperamide - corticosteroids such as budesonide (Entocort) and prednisone - anti-inflammatory medications such as mesalamine and sulfasalazine (Azulfidine) - cholestyramine resin (Locholest, Questran)a medication that blocks bile acids - antibiotics such as metronidazole (Flagyl) and erythromycin - immunomodulators such as mercaptopurine (Purinethol), azathioprine (Azasan, Imuran), and methotrexate (Rheumatrex, Trexall) - anti-TNF therapies such as infliximab (Remicade) and adalimumab (Humira) Corticosteroids are medications that decrease inflammation and reduce the activity of the immune system. These medications can have many side effects. Scientists have shown that budesonide is safer, with fewer side effects, than prednisone. Most health care providers consider budesonide the best medication for treating microscopic colitis. Patients with microscopic colitis generally achieve relief through treatment with medications, although relapses can occur. Some patients may need long-term treatment if they continue to have relapses.
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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 therapy - Surgery - Watchful waiting - New types of treatment are being tested in clinical trials. - New combinations of therapies - Supportive care is given to lessen the problems caused by the disease or its treatment. - 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 plasma cell neoplasms. Different types of treatments are available for patients with plasma cell neoplasms. 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. Eight types of treatment are used: Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). The way the chemotherapy is given depends on the type and stage of the cancer being treated. See Drugs Approved for Multiple Myeloma and Other Plasma Cell Neoplasms for more information. Other drug therapy Corticosteroids are steroids that have antitumor effects in multiple myeloma. Targeted therapy Targeted therapy is a treatment that uses drugs or other substances to identify and attack specific cancer cells without harming normal cells. Several types of targeted therapy may be used to treat multiple myeloma and other plasma cell neoplasms. Proteasome inhibitor therapy is a type of targeted therapy that blocks the action of proteasomes in cancer cells and may prevent the growth of tumors. Bortezomib, carfilzomib, ixazomib, daratumumab, and elotuzumab are proteasome inhibitors used in the treatment of multiple myeloma and other plasma cell neoplasms. Histone deacetylase (HDAC) inhibitor therapy is a type of targeted therapy that blocks enzymes needed for cell division and may stop the growth of cancer cells. Panobinostat is an HDAC inhibitor used in the treatment of multiple myeloma and other plasma cell neoplasms. See Drugs Approved for Multiple Myeloma and Other Plasma Cell Neoplasms for more information. High-dose chemotherapy with stem cell transplant This treatment is a way of giving high doses of 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 (autologous transplant) or a donor (allogeneic transplant) 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 body's 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. Immunomodulators are a type of biologic therapy. Thalidomide, lenalidomide, and pomalidomide are immunomodulators used to treat multiple myeloma and other plasma cell neoplasms. Interferon is a type of biologic therapy. It affects the division of cancer cells and can slow tumor growth. See Drugs Approved for Multiple Myeloma and Other Plasma Cell Neoplasms for more information. 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 and stage of the cancer being treated. External radiation therapy is used to treat plasma cell neoplasms. Surgery Surgery to remove the tumor may be done and is usually followed by radiation therapy. Treatment given after the surgery, to lower the risk that the cancer will come back, is called adjuvant therapy. Watchful waiting Watchful waiting is closely monitoring a patients condition without giving any treatment until signs or symptoms appear or change. 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. New combinations of therapies Clinical trials are studying different combinations of biologic therapy, chemotherapy, steroid therapy, and drugs. New treatment regimens using thalidomide or lenalidomide are also being studied. Supportive care is given to lessen the problems caused by the disease or its treatment. This therapy controls problems or side effects caused by the disease or its treatment, and improves quality of life. Supportive care is given to treat problems caused by multiple myeloma and other plasma cell neoplasms. Supportive care may include the following: - Plasmapheresis: If the blood becomes thick with extra antibody proteins and interferes with circulation, plasmapheresis is done to remove extra plasma and antibody proteins from the blood. In this procedure blood is removed from the patient and sent through a machine that separates the plasma (the liquid part of the blood) from the blood cells. The patient's plasma contains the unneeded antibodies and is not returned to the patient. The normal blood cells are returned to the bloodstream along with donated plasma or a plasma replacement. Plasmapheresis does not keep new antibodies from forming. - High-dose chemotherapy with stem cell transplant: If amyloidosis occurs, treatment may include high-dose chemotherapy followed by stem cell transplant using the patient's own stem cells. - Biologic therapy: Biologic therapy with thalidomide, lenalidomide, or pomalidomide is given to treat amyloidosis. - Targeted therapy: Targeted therapy with proteasome inhibitors is given to treat amyloidosis. - Radiation therapy: Radiation therapy is given for bone lesions of the spine. - Chemotherapy: Chemotherapy is given to reduce back pain from osteoporosis or compression fractures of the spine. - Bisphosphonate therapy: Bisphosphonate therapy is given to slow bone loss and reduce bone pain. See the following PDQ summaries for more information on bisphosphonates and problems related to their use: - Cancer Pain - Oral Complications of Chemotherapy and Head/Neck Radiation Patients may want to think about taking part in a clinical trial. For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. Patients can enter clinical trials before, during, or after starting their cancer treatment. Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials. Follow-up tests may be needed. Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups. Treatment Options for Plasma Cell Neoplasms Monoclonal Gammopathy of Undetermined Significance Treatment of monoclonal gammopathy of undetermined significance (MGUS) is usually watchful waiting. Regular blood tests to check the level of M protein in the blood and physical exams to check for signs or symptoms of cancer will be done. Check the list of NCI-supported cancer clinical trials that are now accepting patients with monoclonal gammopathy of undetermined significance. 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. Isolated Plasmacytoma of Bone Treatment of isolated plasmacytoma of bone is usually radiation therapy to the bone lesion. Check the list of NCI-supported cancer clinical trials that are now accepting patients with isolated plasmacytoma of bone. 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. Extramedullary Plasmacytoma Treatment of extramedullary plasmacytoma may include the following: - Radiation therapy to the tumor and nearby lymph nodes. - Surgery, usually followed by radiation therapy. - Watchful waiting after initial treatment, followed by radiation therapy, surgery, or chemotherapy if the tumor grows or causes signs or symptoms. Check the list of NCI-supported cancer clinical trials that are now accepting patients with extramedullary plasmacytoma. 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. Multiple Myeloma Patients without signs or symptoms may not need treatment. When signs or symptoms appear, the treatment of multiple myeloma may be done in phases: - Induction therapy : This is the first phase of treatment. Its goal is to reduce the amount of disease, and may include one or more of the following: - Corticosteroid therapy. - Biologic therapy with lenalidomide, pomalidomide, or thalidomide therapy. - Targeted therapy with proteasome inhibitors (bortezomib, carfilzomib, ixazomib, daratumumab, and elotuzumab). - Chemotherapy. - Histone deacetylase inhibitor therapy with panobinostat. - A clinical trial of different combinations of treatment. - Consolidation chemotherapy : This is the second phase of treatment. Treatment in the consolidation phase is to kill any remaining cancer cells. High-dose chemotherapy is followed by either: - one autologous stem cell transplant, in which the patient's stem cells from the blood or bone marrow are used; or - two autologous stem cell transplants followed by an autologous or allogeneic stem cell transplant, in which the patient receives stem cells from the blood or bone marrow of a donor; or - one allogeneic stem cell transplant. - Maintenance therapy : After the initial treatment, maintenance therapy is often given to help keep the disease in remission for a longer time. Several types of treatment are being studied for this use, including the following: - Chemotherapy. - Biologic therapy with interferon. - Corticosteroid therapy. - Lenalidomide therapy. - Targeted therapy with a proteasome inhibitor (bortezomib). Check the list of NCI-supported cancer clinical trials that are now accepting patients with multiple myeloma. 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. Refractory Multiple Myeloma Treatment of refractory multiple myeloma may include the following: - Watchful waiting for patients whose disease is stable. - A different treatment than treatment already given, for patients whose tumor kept growing during treatment. (See Multiple Myeloma treatment options.) - A clinical trial of a new therapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with refractory multiple myeloma. 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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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 patients are mildly affected, but in the worst cases, MS can render a person unable to write, speak, or walk. MS is a disease with a natural tendency to remit spontaneously, for which there is no universally effective treatment.
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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 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 - Prolonged partial thromboplastin time - Reduced kininogen activity - 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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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 Weight loss Malaise Abdominal mass Hepatomegaly The Human Phenotype Ontology provides the following list of signs and symptoms for Fibrolamellar carcinoma. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Hepatocellular carcinoma - Micronodular cirrhosis - Somatic mutation - Subacute progressive viral hepatitis - 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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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 to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia of the cerebellum 90% Apnea 90% Cognitive impairment 90% Incoordination 90% Muscular hypotonia 90% Oculomotor apraxia 90% Gait disturbance 50% Long face 50% Narrow forehead 50% Nystagmus 50% Abnormality of neuronal migration 7.5% Abnormality of the hypothalamus-pituitary axis 7.5% Aganglionic megacolon 7.5% Anteverted nares 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Encephalocele 7.5% Foot polydactyly 7.5% Hand polydactyly 7.5% Highly arched eyebrow 7.5% Hydrocephalus 7.5% Iris coloboma 7.5% Low-set, posteriorly rotated ears 7.5% Oral cleft 7.5% Prominent nasal bridge 7.5% Ptosis 7.5% Scoliosis 7.5% Seizures 7.5% Situs inversus totalis 7.5% Strabismus 7.5% Tremor 7.5% Occipital myelomeningocele 5% Renal cyst 5% Retinal dysplasia 5% Abnormality of saccadic eye movements - Abnormality of the foot - Agenesis of cerebellar vermis - Aggressive behavior - Ataxia - Autosomal recessive inheritance - Brainstem dysplasia - Central apnea - Cerebellar vermis hypoplasia - Chorioretinal coloboma - Dysgenesis of the cerebellar vermis - Elongated superior cerebellar peduncle - Enlarged fossa interpeduncularis - Epicanthus - Episodic tachypnea - Hemifacial spasm - Hepatic fibrosis - Heterogeneous - Hyperactivity - Hypoplasia of the brainstem - Impaired smooth pursuit - Intellectual disability - Low-set ears - Macrocephaly - Macroglossia - Molar tooth sign on MRI - Neonatal breathing dysregulation - Optic nerve coloboma - Phenotypic variability - Postaxial hand polydactyly - Prominent forehead - Protruding tongue - Retinal dystrophy - Self-mutilation - Triangular-shaped open mouth - 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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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 called glycoproteins and glycolipids (sugar molecules attached to certain proteins and fats). More specifically, alpha-N-acetylgalactosaminidase helps remove a molecule called alpha-N-acetylgalactosamine from sugars in these complexes. Mutations in the NAGA gene interfere with the ability of the alpha-N-acetylgalactosaminidase enzyme to perform its role in breaking down glycoproteins and glycoliipids. These substances accumulate in the lysosomes and cause cells to malfunction and eventually die. Cell damage in the nervous system and other tissues and organs of the body leads to the signs and symptoms of Schindler disease type 1.
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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 peripheral arterial disease, can also occur in people with diabetes. Coronary Artery Disease Coronary artery disease, also called ischemic heart disease, is caused by a hardening or thickening of the walls of the blood vessels that go to your heart. Your blood supplies oxygen and other materials your heart needs for normal functioning. If the blood vessels to your heart become narrowed or blocked by fatty deposits, the blood supply is reduced or cut off, resulting in a heart attack. Cerebral Vascular Disease Cerebral vascular disease affects blood flow to the brain, leading to strokes and TIAs. It is caused by narrowing, blocking, or hardening of the blood vessels that go to the brain or by high blood pressure. Stroke A stroke results when the blood supply to the brain is suddenly cut off, which can occur when a blood vessel in the brain or neck is blocked or bursts. Brain cells are then deprived of oxygen and die. A stroke can result in problems with speech or vision or can cause weakness or paralysis. Most strokes are caused by fatty deposits or blood clotsjelly-like clumps of blood cellsthat narrow or block one of the blood vessels in the brain or neck. A blood clot may stay where it formed or can travel within the body. People with diabetes are at increased risk for strokes caused by blood clots. A stroke may also be caused by a bleeding blood vessel in the brain. Called an aneurysm, a break in a blood vessel can occur as a result of high blood pressure or a weak spot in a blood vessel wall. TIAs TIAs are caused by a temporary blockage of a blood vessel to the brain. This blockage leads to a brief, sudden change in brain function, such as temporary numbness or weakness on one side of the body. Sudden changes in brain function also can lead to loss of balance, confusion, blindness in one or both eyes, double vision, difficulty speaking, or a severe headache. However, most symptoms disappear quickly and permanent damage is unlikely. If symptoms do not resolve in a few minutes, rather than a TIA, the event could be a stroke. The occurrence of a TIA means that a person is at risk for a stroke sometime in the future. See page 3 for more information on risk factors for stroke. Heart Failure Heart failure is a chronic condition in which the heart cannot pump blood properlyit does not mean that the heart suddenly stops working. Heart failure develops over a period of years, and symptoms can get worse over time. People with diabetes have at least twice the risk of heart failure as other people. One type of heart failure is congestive heart failure, in which fluid builds up inside body tissues. If the buildup is in the lungs, breathing becomes difficult. Blockage of the blood vessels and high blood glucose levels also can damage heart muscle and cause irregular heart beats. People with damage to heart muscle, a condition called cardiomyopathy, may have no symptoms in the early stages, but later they may experience weakness, shortness of breath, a severe cough, fatigue, and swelling of the legs and feet. Diabetes can also interfere with pain signals normally carried by the nerves, explaining why a person with diabetes may not experience the typical warning signs of a heart attack. Peripheral Arterial Disease Another condition related to heart disease and common in people with diabetes is peripheral arterial disease (PAD). With this condition, the blood vessels in the legs are narrowed or blocked by fatty deposits, decreasing blood flow to the legs and feet. PAD increases the chances of a heart attack or stroke occurring. Poor circulation in the legs and feet also raises the risk of amputation. Sometimes people with PAD develop pain in the calf or other parts of the leg when walking, which is relieved by resting for a few minutes.
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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 slowness of movement; and postural instability, or impaired balance and coordination. As these symptoms become more pronounced, patients may have difficulty walking, talking, or completing other simple tasks. PD usually affects people over the age of 60. Early symptoms of PD are subtle and occur gradually. In some people the disease progresses more quickly than in others. As the disease progresses, the shaking, or tremor, which affects the majority of people with PD may begin to interfere with daily activities. Other symptoms may include depression and other emotional changes; difficulty in swallowing, chewing, and speaking; urinary problems or constipation; skin problems; and sleep disruptions. There are currently no blood or laboratory tests that have been proven to help in diagnosing sporadic PD. Therefore the diagnosis is based on medical history and a neurological examination. The disease can be difficult to diagnose accurately. Doctors may sometimes request brain scans or laboratory tests in order to rule out other diseases.
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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 Cushing's syndrome, there's too much cortisol, while with Addison's disease, there is too little. Some people are born unable to make enough cortisol. Causes of adrenal gland disorders include - Genetic mutations - Tumors including pheochromocytomas - Infections - A problem in another gland, such as the pituitary, which helps to regulate the adrenal gland - Certain medicines Treatment depends on which problem you have. Surgery or medicines can treat many adrenal gland disorders. NIH: National Institute of Child Health and Human Development
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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, and pulsating sounds within the head, closely mimic symptoms of large brain tumors.
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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 blood glucose control - have high levels of blood cholesterol - have high blood pressure - are overweight - are older than 40 - smoke - are physically inactive
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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 Rehabilitation - Genetic Counseling - Palliative Care
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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. - Radiosensitizers - Sentinel lymph node biopsy followed by surgery - 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 penile cancer. Different types of treatments are available for patients with penile cancer. 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. Four types of standard treatment are used: Surgery Surgery is the most common treatment for all stages of penile cancer. A doctor may remove the cancer using one of the following operations: - Mohs microsurgery: A procedure in which the tumor is cut from the skin in thin layers. During the surgery, the edges of the tumor and each layer of tumor removed are viewed through a microscope to check for cancer cells. Layers continue to be removed until no more cancer cells are seen. This type of surgery removes as little normal tissue as possible and is often used to remove cancer on the skin. It is also called Mohs surgery. - Laser surgery: A surgical procedure that uses a laser beam (a narrow beam of intense light) as a knife to make bloodless cuts in tissue or to remove a surface lesion such as a tumor. - Cryosurgery: A treatment that uses an instrument to freeze and destroy abnormal tissue. This type of treatment is also called cryotherapy. - Circumcision: Surgery to remove part or all of the foreskin of the penis. - Wide local excision: Surgery to remove only the cancer and some normal tissue around it. - Amputation of the penis: Surgery to remove part or all of the penis. If part of the penis is removed, it is a partial penectomy. If all of the penis is removed, it is a total penectomy. Lymph nodes in the groin may be taken out during surgery. Even if the doctor removes all the cancer that can be seen at the time of the surgery, some patients may be given chemotherapy or radiation therapy after surgery to kill any cancer cells that are left. Treatment given after the surgery, to lower the risk that the cancer will come back, is called adjuvant therapy. 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 and stage of the cancer being treated. External and internal radiation therapy are used to treat penile cancer. 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 onto the skin (topical chemotherapy) or into the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). The way the chemotherapy is given depends on the type and stage of the cancer being treated. Topical chemotherapy may be used to treat stage 0 penile cancer. See Drugs Approved for Penile Cancer for more information. Biologic therapy Biologic therapy is a treatment that uses the patient's immune system to fight cancer. Substances made by the body or made in a laboratory are used to boost, direct, or restore the body's natural defenses against cancer. This type of cancer treatment is also called biotherapy or immunotherapy. Topical biologic therapy with imiquimod may be used to treat stage 0 penile cancer. 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. Radiosensitizers Radiosensitizers are drugs that make tumor cells more sensitive to radiation therapy. Combining radiation therapy with radiosensitizers helps kill more tumor cells. Sentinel lymph node biopsy followed by surgery Sentinel lymph node biopsy is the removal of the sentinel lymph node during surgery. The sentinel lymph node is the first lymph node to receive lymphatic drainage from a tumor. It is the first lymph node the cancer is likely to spread to from the tumor. A radioactive substance and/or blue dye is injected near the tumor. The substance or dye flows through the lymph ducts to the lymph nodes. The first lymph node to receive the substance or dye is removed. A pathologist views the tissue under a microscope to look for cancer cells. If cancer cells are not found, it may not be necessary to remove more lymph nodes. After the sentinel lymph node biopsy, the surgeon removes the cancer. 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 (Carcinoma in Situ) Treatment of stage 0 may be one of the following: - Mohs microsurgery. - Topical chemotherapy. - Topical biologic therapy with imiquimod. - Laser surgery. - Cryosurgery. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage 0 penile cancer. 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 Penile Cancer If the cancer is only in the foreskin, wide local excision and circumcision may be the only treatment needed. Treatment of stage I penile cancer may include the following: - Surgery (partial or total penectomy with or without removal of lymph nodes in the groin. - External or internal radiation therapy. - Mohs microsurgery. - A clinical trial of laser therapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage I penile cancer. 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 II Penile Cancer Treatment of stage II penile cancer may include the following: - Surgery (partial or total penectomy, with or without removal of lymph nodes in the groin). - External or internal radiation therapy followed by surgery. - A clinical trial of sentinel lymph node biopsy followed by surgery. - A clinical trial of laser surgery. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage II penile cancer. 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 III Penile Cancer Treatment of stage III penile cancer may include the following: - Surgery (penectomy and removal of lymph nodes in the groin) with or without radiation therapy. - Radiation therapy. - A clinical trial of sentinel lymph node biopsy followed by surgery. - A clinical trial of radiosensitizers. - A clinical trial of chemotherapy before or after surgery. - A clinical trial of new drugs, biologic therapy, or new kinds of surgery. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage III penile cancer. 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 IV Penile Cancer Treatment of stage IV penile cancer is usually palliative (to relieve symptoms and improve the quality of life). Treatment may include the following: - Surgery (wide local excision and removal of lymph nodes in the groin). - Radiation therapy. - A clinical trial of chemotherapy before or after surgery. - A clinical trial of new drugs, biologic therapy, or new kinds of surgery. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage IV penile cancer. 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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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 are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Less often, 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. In rare cases, severe congenital neutropenia is inherited in an X-linked recessive pattern. In these cases, the gene that causes the condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.
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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 the potty should be rewarded. Missteps shouldn't get as much attention. Training requires patience. If it is not successful, it may mean your child is not ready.
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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/or coma. The condition can become life-threatening. Abnormally low muscle tone (hypotonia); hyperkinesia; hyperactivity; excessive drowsiness; and delayed mental and physical development have also been reported. The Human Phenotype Ontology provides the following list of signs and symptoms for Valinemia. 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 - Drowsiness - Failure to thrive - Hyperkinesis - Hypervalinemia - Muscle weakness - Vomiting - 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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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"-looking ears, and curvature of the spine (kyphoscoliosis). Other features might also be present and vary from person to person. CCA is caused by mutations in a gene called FBN2 gene and is inherited in an autosomal dominant pattern. CCA shares similiar signs and symptoms to Marfan syndrome; however, Marfan syndrome is not caused by mutations in the FBN2 gene.
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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 their diet. Animal protein in egg whites, cheese, chicken, fish, and red meats contain more of the essential nutrients a body needs. With careful meal planning, a well-balanced vegetarian diet can also provide these nutrients. A renal dietitian can help people with advanced CKD make small adjustments in their eating habits that can result in significant protein reduction. For example, people can lower their protein intake by making sandwiches using thinner slices of meat and adding lettuce, cucumber slices, apple slices, and other garnishes. The following table lists some higher-protein foods and suggestions for lower-protein alternatives that are better choices for people with CKD trying to limit their protein intake. Higher- and Lower-protein Foods Based on about a 3 oz. portion Higher-Protein Foods Lower-protein Alternatives Ground beef Halibut Shrimp Salmon Tuna Chicken breast Roasted chicken Chili con carne Beef stew Egg substitutes Tofu Imitation crab meat When kidney function declines to the point where dialysis becomes necessary, patients should include more protein in their diet because dialysis removes large amounts of protein from the blood.
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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 MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cone/cone-rod dystrophy - Progressive cone degeneration - 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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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 and radiation therapy for the treatment of urachal cancer is unclear, although some studies show that chemotherapy can induce objective response in some cases. Chemotherapy regimens that may be used include: single-agent 5-fluorouracil (5-FU), 5-FU and cisplatin, 5-FU, lomustine and vincristine, taxol and cisplatin, platinum and etoposide, and MVAC (methotrexate, vinblastine, doxorubicin, cisplatin) alone or in conjunction with radiation therapy.
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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 as adding extra salt to the diet and attention to adequate fluid intake are often effective. The drugs fludrocortisone (for those on a high salt diet) and midodrine in low doses are often used to increase blood volume and narrow blood vessels. Drinking 16 ounces of water (2 glassfuls) before getting up can also help raise blood pressure. Some individuals are helped by beta receptor blocking agents. There is some evidence that an exercise program can gradually improve orthostatic tolerance.
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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 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 calvarial morphology 90% Abnormality of the distal phalanx of finger 90% Abnormality of the pinna 90% Aplasia/Hypoplasia of the thumb 90% Cognitive impairment 90% Epicanthus 90% Highly arched eyebrow 90% Hypertelorism 90% Joint hypermobility 90% Low-set, posteriorly rotated ears 90% Lymphedema 90% Muscular hypotonia 90% Narrow forehead 90% Proximal placement of thumb 90% Ptosis 90% Upslanted palpebral fissure 90% Webbed neck 90% Brachycephaly - Broad distal phalanx of finger - Edema of the dorsum of feet - Edema of the dorsum of hands - Epicanthus inversus - Intellectual disability - Low-set ears - Posteriorly rotated ears - Protruding ear - 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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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 chronic liver failure, also called end-stage liver disease. This condition progresses over months, years, or even decades. The liver can no longer perform important functions or effectively replace damaged cells. A person may need a liver transplant. A liver transplant is surgery to remove a diseased or an injured liver and replace it with a healthy whole liver or a segment of a liver from another person, called a donor. Portal hypertension. The spleen is the organ that cleans blood and makes white blood cells. White blood cells attack bacteria and other foreign cells. Blood flow from the spleen drains directly into the liver. When a person with Alagille syndrome has advanced liver disease, the blood flow backs up into the spleen and other blood vessels. This condition is called portal hypertension. The spleen may become larger in the later stages of liver disease. A person with an enlarged spleen should avoid contact sports to protect the organ from injury. Advanced portal hypertension can lead to serious bleeding problems. Growth problems. Alagille syndrome can lead to poor growth in infants and children, as well as delayed puberty in older children. Liver disease can cause malabsorption, which can result in growth problems. Malabsorption is the inability of the small intestine to absorb nutrients from foods, which results in protein, calorie, and vitamin deficiencies. Serious heart problems, if present in Alagille syndrome, can also affect growth. Malabsorption. People with Alagille syndrome may have diarrhealoose, watery stoolsdue to malabsorption. The condition occurs because bile is necessary for the digestion of food. Malabsorption can lead to bone fractures, eye problems, blood-clotting problems, and learning delays. Long-term Outlook The long-term outlook for people with Alagille syndrome depends on several factors, including the severity of liver damage and heart problems. Predicting who will experience improved bile flow and who will progress to chronic liver failure is difficult. Ten to 30 percent of people with Alagille syndrome will eventually need a liver transplant.3 Many adults with Alagille syndrome whose symptoms improve with treatment lead normal, productive lives. Deaths in people with Alagille syndrome are most often caused by chronic liver failure, heart problems, and blood vessel problems.
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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 signs and symptoms of the condition. At least one individual with molybdenum cofactor deficiency inherited two mutated copies of the MOCS1 gene through a mechanism called uniparental isodisomy. In this case, an error occurred during the formation of egg or sperm cells, and the child received two copies of the mutated gene from one parent instead of one copy from each parent.
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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: Colitis 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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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 antibiotics, sensitive bacteria are killed. But resistant germs may be left to grow and multiply. They can spread to other people. They can also cause infections that certain antibiotics cannot cure. Methicillin-resistant Staphylococcus aureus (MRSA) is one example. It causes infections that are resistant to several common antibiotics. To help prevent antibiotic resistance - Don't use antibiotics for viruses like colds or flu. Antibiotics don't work on viruses. - Don't pressure your doctor to give you an antibiotic. - When you take antibiotics, follow the directions carefully. Finish your medicine even if you feel better. If you stop treatment too soon, some bacteria may survive and re-infect you. - Don't save antibiotics for later or use someone else's prescription. Centers for Disease Control and Prevention
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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 cause autosomal recessive PHA1. Each of these three genes provides instructions for making one of the pieces (subunits) of a protein complex called the epithelial sodium channel (ENaC). The mineralocorticoid receptor regulates specialized proteins in the cell membrane that control the transport of sodium or potassium into cells. In response to signals that sodium levels are low, such as the presence of the hormone aldosterone, the mineralocorticoid receptor increases the number and activity of these proteins at the cell membrane of certain kidney cells. One of these proteins is ENaC, which transports sodium into the cell; another protein simultaneously transports sodium out of the cell and potassium into the cell. These proteins help keep sodium in the body through a process called reabsorption and remove potassium from the body through a process called secretion. Mutations in the NR3C2 gene lead to a nonfunctional or abnormally functioning mineralocorticoid receptor protein that cannot properly regulate the specialized proteins that transport sodium and potassium. As a result, sodium reabsorption and potassium secretion are both decreased, causing hyponatremia and hyperkalemia. Mutations in the SCNN1A, SCNN1B, and SCNN1G genes result in reduced functioning or nonfunctioning ENaC channels. As in autosomal dominant PHA1, the reduction or absence of ENaC function in the kidneys leads to hyponatremia and hyperkalemia. In addition, nonfunctional ENaC channels in other body systems lead to additional signs and symptoms of autosomal recessive PHA1, including lung infections and skin lesions.
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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 provide a specific diagnosis of diabetic mastopathy with confident exclusion of malignancy. Magnetic resonance imaging (MRI) is unlikely to add additional information. Current practice dictates that a core biopsy (utilizing a needle to remove a small cylinder of tissue) be performed for a definitive diagnosis. Biopsy results demonstrate lymphocytic lobulitis and ductitis, glandular atrophy (wasting), perivascular inflammation (vasculitis), dense keloid fibrosis (scarring), and epithelioid fibroblasts.
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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). Although they can occur in people of all ages, pilomatrixomas are most commonly diagnosed in people under age 20. The exact underlying cause is not well understood; however, somatic changes (mutations) in the CTNNB1 gene are found in most isolated pilomatrixomas. Rarely, pilomatrixomas occur in people with certain genetic syndromes such as Gardner syndrome, myotonic dystrophy, and Rubinstein-Taybi syndrome; in these cases, affected people usually have other characteristic signs and symptoms of the associated condition. They are usually treated with surgical excision.
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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 MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the gastric mucosa 90% Nystagmus 90% Incoordination 50% Abnormality of the cerebellum - Autosomal dominant inheritance - Duodenal ulcer - Tremor - 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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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 medication for individuals with chronic pain.
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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 of other genes, including genes that direct the body's immune responses and inflammatory reactions. It also protects cells from certain signals that would otherwise cause them to self-destruct (undergo apoptosis). The IKBKG and NFKBIA gene mutations responsible for EDA-ID result in the production of proteins with impaired function, which reduces activation of nuclear factor-kappa-B. These changes disrupt certain signaling pathways within immune cells, resulting in immune deficiency. It is unclear how gene mutations alter the development of the skin, teeth, sweat glands, and other tissues, although it is likely caused by abnormal nuclear factor-kappa-B signaling in other types of cells.
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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 transmit information within and between cells. Cilia are important for the structure and function of many types of cells, including cells in the kidneys, liver, and brain. Light-sensing cells (photoreceptors) in the retina also contain cilia, which are essential for normal vision. Cilia also play a role in the development of the bones, although the mechanism is not well understood. The movement of substances within cilia and similar structures called flagella is known as intraflagellar transport (IFT). This process is essential for the assembly and maintenance of these cell structures. During intraflagellar transport, cells use molecules called IFT particles to carry materials to and from the tips of cilia. IFT particles are made of proteins produced from related genes that belong to the IFT gene family. Each IFT particle is made up of two groups of IFT proteins: complex A, which includes at least six proteins, and complex B, which includes at least 15 proteins. The protein produced from the IFT140 gene forms part of IFT complex A (IFT-A). Mutations in the IFT140 gene that cause Mainzer-Saldino syndrome may change the shape of the IFT140 protein or affect its interactions with other IFT proteins, likely impairing the assembly of IFT-A and the development or maintenance of cilia. As a result, fewer cilia may be present or functional, affecting many organs and tissues in the body and resulting in the signs and symptoms of Mainzer-Saldino syndrome. Disorders such as Mainzer-Saldino syndrome that are caused by problems with cilia and involve bone abnormalities are called skeletal ciliopathies. While IFT140 gene mutations are believed to account for most cases of Mainzer-Saldino syndrome, mutations in additional genes that have not been identified may also cause this disorder.
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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 healthy. - Whether the cancer has recurred. Most transitional cell cancer of the renal pelvis and ureter can be cured if found early.
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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 parasites. Therefore, if indicated, health care providers should specifically request testing for Cyclospora. More on: Resources for Health Professionals: Diagnosis Laboratory Diagnosis Cyclospora infection is diagnosed by examining stool specimens. Diagnosis can be difficult in part because even persons who are symptomatic might not shed enough oocysts in their stool to be readily detectable by laboratory examinations. Therefore, patients might need to submit several specimens collected on different days. Special techniques, such as acid-fast staining, are often used to make Cyclospora oocysts more visible under the microscope. In addition, Cyclospora oocysts are autofluorescent, meaning that when stool containing the parasite is viewed under an ultraviolet (UV) fluorescence microscope the parasite appears blue or green against a black background. Molecular diagnostic methods, such as polymerase chain reaction (PCR) analysis, are used to look for the parasite's DNA in the stool. More on: Key points for the laboratory diagnosis of cyclosporiasis
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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 norrin protein seems to play an important role in the development of retinal cells in the eye. It is also involved in creating a blood supply to tissues of the retina and the inner ear, and the development of other body systems. Mutations in the NDP gene can prevent the norrin protein from working correctly, resulting in the signs and symptoms of Norrie disease.
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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 occur in people with chromosome 14q deletion include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome testing of both parents can provide more information on whether or not the deletion was inherited. In most cases, parents do not have any chromosomal anomaly. However, sometimes one parent is found to have a balanced translocation, where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. The balanced translocation normally does not cause any signs or symptoms, but it increases the risk for having an affected child with a chromosomal anomaly like a deletion. Treatment is based on the signs and symptoms present in each person. This page is meant to provide general information about 14q deletions. You can contact GARD if you have questions about a specific deletion on chromosome 14. To learn more about chromosomal anomalies please visit our GARD webpage on FAQs about Chromosome Disorders.
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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 desmoid tumors. An inherited mutation in one copy of the APC gene causes familial adenomatous polyposis and predisposes affected individuals to develop desmoid tumors. The desmoid tumors occur when a somatic mutation occurs in the second copy of the APC gene. In these cases, the condition is sometimes called hereditary desmoid disease.
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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 (erythroderma); fine, white scales on the skin; and thickening of the skin on the palms and soles of feet (palmoplantar keratoderma). Some people with NBCIE also have outward turning eyelids (ectropion); outward turning lips (eclabium); and nails that do not grow normally (nail dystrophy). NBCIE may be caused by mutations in any one of at least three genes: ALOX12B, ALOXE3 or NIPAL4. In some people with NBCIE, the cause of the disorder is unknown.
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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 diabetes. - your symptoms, including any symptoms that occur when walking, exercising, sitting, standing, or climbing - your diet - any medicines you take, including prescription and over-the-counter medicines - family members with a history of heart or blood vessel diseases. your risk factors for P.A.D. For example, he or she may ask whether you smoke or have diabetes. your symptoms, including any symptoms that occur when walking, exercising, sitting, standing, or climbing your diet any medicines you take, including prescription and over-the-counter medicines family members with a history of heart or blood vessel diseases. The Physical Exam During the physical exam, your doctor will look for signs of P.A.D. He or she may check the blood flow in your legs or feet to see whether you have weak or absent pulses. Your doctor also may check the pulses in your leg arteries for an abnormal whooshing sound called a bruit (broo-E). He or she can hear this sound with a stethoscope. A bruit may be a warning sign of a narrowed or blocked artery. Your doctor may compare blood pressure between your limbs to see whether the pressure is lower in the affected limb. He or she may also check for poor wound healing or any changes in your hair, skin, or nails that might be signs of P.A.D. Diagnostic Tests Tests are used to diagnose P.A.D. These tests include - an ankle-brachial index (ABI). This test compares blood pressure in your ankle to blood pressure in your arm and shows how well blood is flowing in your limbs. ABI can show whether P.A.D. is affecting your limbs, but it wont show which blood vessels are narrowed or blocked. A normal ABI result is 1.0 or greater (with a range of 0.90 to 1.30). The test takes about 10 to 15 minutes to measure both arms and both ankles. This test may be done yearly to see whether P.A.D. is getting worse. an ankle-brachial index (ABI). This test compares blood pressure in your ankle to blood pressure in your arm and shows how well blood is flowing in your limbs. ABI can show whether P.A.D. is affecting your limbs, but it wont show which blood vessels are narrowed or blocked. A normal ABI result is 1.0 or greater (with a range of 0.90 to 1.30). The test takes about 10 to 15 minutes to measure both arms and both ankles. This test may be done yearly to see whether P.A.D. is getting worse. - a Doppler ultrasound. This test looks at blood flow in the major arteries and veins in the limbs. During this test, a handheld device is placed on your body and passed back and forth over the affected area. A computer converts sound waves into a picture of blood flow in the arteries and veins. The results of this test can show whether a blood vessel is blocked. The results also can help show the severity of P.A.D. a Doppler ultrasound. This test looks at blood flow in the major arteries and veins in the limbs. During this test, a handheld device is placed on your body and passed back and forth over the affected area. A computer converts sound waves into a picture of blood flow in the arteries and veins. The results of this test can show whether a blood vessel is blocked. The results also can help show the severity of P.A.D. - a treadmill test. This test shows if you have any problems during normal walking, how severe your symptoms are, and what level of exercise brings on your symptoms. You may have an ABI test before and after the treadmill test. This will help compare blood flow in your arms and legs before and after exercise. a treadmill test. This test shows if you have any problems during normal walking, how severe your symptoms are, and what level of exercise brings on your symptoms. You may have an ABI test before and after the treadmill test. This will help compare blood flow in your arms and legs before and after exercise. - a magnetic resonance angiogram (MRA). This test uses magnetic and radio waves to take pictures of your blood vessels. This test is a type of magnetic resonance imaging (MRI). An MRA can show the location and severity of a blocked blood vessel. If you have a pacemaker, man-made joint, stent, surgical clips, mechanical heart valve, or other metallic devices in your body, you might not be able to have an MRA. Ask your doctor whether an MRA is an option for you. a magnetic resonance angiogram (MRA). This test uses magnetic and radio waves to take pictures of your blood vessels. This test is a type of magnetic resonance imaging (MRI). An MRA can show the location and severity of a blocked blood vessel. If you have a pacemaker, man-made joint, stent, surgical clips, mechanical heart valve, or other metallic devices in your body, you might not be able to have an MRA. Ask your doctor whether an MRA is an option for you. - an arteriogram. This test is used to find the exact location of a blocked artery. Dye is injected through a needle or catheter (thin tube) into one of your arteries, then an X-ray is taken. The X-ray can show the location, type, and extent of the blockage in the artery. Some doctors use a newer method of arteriogram that uses tiny ultrasound cameras. These cameras take pictures of the insides of the blood vessels. This method is called intravascular ultrasound. an arteriogram. This test is used to find the exact location of a blocked artery. Dye is injected through a needle or catheter (thin tube) into one of your arteries, then an X-ray is taken. The X-ray can show the location, type, and extent of the blockage in the artery. Some doctors use a newer method of arteriogram that uses tiny ultrasound cameras. These cameras take pictures of the insides of the blood vessels. This method is called intravascular ultrasound. - blood tests. These tests check for P.A.D. risk factors such as diabetes and high blood cholesterol levels. blood tests. These tests check for P.A.D. risk factors such as diabetes and high blood cholesterol levels.
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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 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) EEG abnormality 90% Gait disturbance 90% Hemiplegia/hemiparesis 90% Hyperreflexia 90% Hypertonia 90% Hypopigmented skin patches 90% Irregular hyperpigmentation 90% Neurological speech impairment 90% Urticaria 90% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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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 medication is used to relieve the symptoms of dermatitis herpetiformis, it should be taken in the smallest effective dose and for the shortest period possible. In some cases, immunosuppressive medications may be used. These medications do not appear to be as effective. A strict gluten-free diet is also recommended to help control the disease. Following this diet may eliminate the need for medications and prevent later complications.
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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 will also have greater resistance to infection and recover from surgery more quickly. Your body breaks protein down into a waste product called urea. If urea builds up in your blood, it's a sign you have become very sick. Eating mostly high-quality proteins is important because they produce less waste than others. High-quality proteins come from meat, fish, poultry, and eggs (especially egg whites). Talk With a Dietitian Meat, fish, and chicken are good sources of protein. Talk with a dietitian about the meats you eat. I will eat ______ servings of meat each day. A regular serving size is 3 ounces. This is about the size of the palm of your hand or a deck of cards. Try to choose lean (low-fat) meats that are also low in phosphorus. If you are a vegetarian, ask about other ways to get your protein. Low-fat milk is a good source of protein. But milk is high in phosphorus and potassium. And milk adds to your fluid intake. Talk with a dietitian to see if milk fits into your food plan. I (will) (will not) drink milk. I will drink ______ cup(s) of milk a day.
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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 may want to join a support group. Learn as much as you can about your disease and its treatment. And eat healthy foods and exercise regularly - things that everyone should try to do.
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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 affects the muscles near the center of the body (proximal muscles), particularly muscles in the upper legs and hips. Muscle weakness causes affected infants to appear "floppy" and can delay the development of motor skills such as sitting, standing, and walking. In severe cases, affected infants experience profoundly weak muscle tone (hypotonia) and serious or life-threatening breathing problems. Central core disease is also associated with skeletal abnormalities such as abnormal curvature of the spine (scoliosis), hip dislocation, and joint deformities called contractures that restrict the movement of certain joints. Many people with central core disease also have an increased risk of developing a severe reaction to certain drugs used during surgery and other invasive procedures. This reaction is called malignant hyperthermia. Malignant hyperthermia occurs in response to some anesthetic gases, which are used to block the sensation of pain, and with a particular type of muscle relaxant. If given these drugs, people at risk for malignant hyperthermia may experience muscle rigidity, breakdown of muscle fibers (rhabdomyolysis), a high fever, increased acid levels in the blood and other tissues (acidosis), and a rapid heart rate. The complications of malignant hyperthermia can be life-threatening unless they are treated promptly. Central core disease gets its name from disorganized areas called cores, which are found in the center of muscle fibers in many affected individuals. These abnormal regions can only be seen under a microscope. Although the presence of cores can help doctors diagnose central core disease, it is unclear how they are related to muscle weakness and the other features of this condition.
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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 14 grams of fiber daily for every 1,000 calories consumed. Foods high in fiber may help lower blood cholesterol. Oat bran, oatmeal, whole-grain breads and cereals, dried beans and peas (such as kidney beans, pinto beans, and black-eyed peas), fruits, and vegetables are all good sources of fiber. Increase the amount of fiber in your diet gradually to avoid digestive problems. - Cut down on saturated fat. It raises your blood cholesterol level. Saturated fat is found in meats, poultry skin, butter, dairy products with fat, shortening, lard, and tropical oils such as palm and coconut oil. Your dietitian can figure out how many grams of saturated fat should be your daily maximum amount. - Keep the cholesterol in your diet to less than 300 milligrams a day. Cholesterol is found in meat, dairy products, and eggs. - Keep the amount of trans fat in your diet to a minimum. It's a type of fat in foods that raises blood cholesterol. Limit your intake of crackers, cookies, snack foods, commercially prepared baked goods, cake mixes, microwave popcorn, fried foods, salad dressings, and other foods made with partially hydrogenated oil. In addition, some kinds of vegetable shortening and margarines have trans fat. Check for trans fat in the Nutrition Facts section on the food package. - If you smoke, quit. Your doctor can help you find ways to quit smoking. - Ask your doctor whether you should take aspirin. Studies have shown that taking a low dose of aspirin every day can help reduce the risk of heart disease and stroke. However, aspirin is not safe for everyone. Your doctor can tell you whether taking aspirin is right for you and exactly how much to take. - Get prompt treatment for transient ischemic attacks (TIAs). Early treatment for TIAs, sometimes called mini-strokes, may help prevent or delay a future stroke. Signs of a TIA are sudden weakness, loss of balance, numbness, confusion, blindness in one or both eyes, double vision, difficulty speaking, or a severe headache.
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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 or paralysis of the muscles that move the eye (ophthalmoplegia). Affected individuals may also have general weakness of the skeletal muscles (myopathy), particularly in the neck, arms, or legs. The weakness may be especially noticeable during exercise (exercise intolerance). Muscle weakness may also cause difficulty swallowing (dysphagia). When the muscle cells of affected individuals are stained and viewed under a microscope, these cells usually appear abnormal. These abnormal muscle cells contain an excess of structures called mitochondria and are known as ragged-red fibers. Additionally, a close study of muscle cells may reveal abnormalities in a type of DNA found in mitochondria called mitochondrial DNA (mtDNA). Affected individuals often have large deletions of genetic material from mtDNA in muscle tissue. Although muscle weakness is the primary symptom of progressive external ophthalmoplegia, this condition can be accompanied by other signs and symptoms. In these instances, the condition is referred to as progressive external ophthalmoplegia plus (PEO+). Additional signs and symptoms can include hearing loss caused by nerve damage in the inner ear (sensorineural hearing loss), weakness and loss of sensation in the limbs due to nerve damage (neuropathy), impaired muscle coordination (ataxia), a pattern of movement abnormalities known as parkinsonism, or depression. Progressive external ophthalmoplegia is part of a spectrum of disorders with overlapping signs and symptoms. Similar disorders include other conditions caused by POLG gene mutations, such as ataxia neuropathy spectrum, as well as other mtDNA deletion disorders, such as Kearns-Sayre syndrome. Like progressive external ophthalmoplegia, the other conditions in this spectrum can involve weakness of the eye muscles. However, these conditions have many additional features not shared by most people with progressive external ophthalmoplegia.
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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 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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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 tissues and bone that support teeth. If left untreated, periodontitis can lead to tooth loss. In its early stages, gum disease is usually painless, and many people are not aware that they have it. In more advanced cases, gum disease can cause sore gums and pain when chewing. Not A Normal Part of Aging The good news is that gum disease can be prevented. It does not have to be a part of growing older. With thorough brushing and flossing and regular professional cleanings by your dentist, you can reduce your risk of developing gum disease as you age. If you have been treated for gum disease, sticking to a proper oral hygiene routine and visiting your dentist for regular cleanings can minimize the chances that it will come back. Plaque Buildup Can Form Tartar Gum disease is typically caused by poor brushing and flossing habits that allow dental plaque -- a sticky film of bacteria -- to build up on the teeth. Plaque that is not removed can harden and form tartar that brushing doesn't clean. Only a professional cleaning by a dentist or dental hygienist can remove tartar. Gum disease can range from simple gum inflammation to serious disease. The two forms of gum disease are gingivitis and periodontitis. Gingivitis and Periodontitis In gingivitis, the gums become red, swollen and can bleed easily. Gingivitis can usually be reversed with daily brushing and flossing, and regular cleaning by a dentist or dental hygienist. This form of gum disease does not include any loss of bone and tissue that hold teeth in place. When gingivitis is not treated, it can advance to periodontitis. In periodontitis, gums pull away from the teeth and form spaces (called "pockets") that become infected. The body's immune system fights the bacteria as the plaque spreads and grows below the gum line. Bacterial toxins and the body's natural response to infection start to break down the bone and connective tissue that hold teeth in place. If not treated, the bones, gums, and tissue that support the teeth are destroyed. The teeth may eventually become loose and may have to be removed.
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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 for Melanoma skin cancer is more difficult to treat, so it is important to check for signs and seek treatment as soon as possible. Use the following ABCDE rule to remember the symptoms of melanoma. See a doctor if you have a mole, birthmark, or other pigmented area of skin with A = Asymmetry. One half of the mole looks different than the other half. (top left image) B = Border. The edges are often ragged, notched, or blurred in outline. The pigment may spread into the surrounding skin. (top right image) C = Color. The mole is more than one color. Shades of black, brown, and tan may be present. Areas of white, gray, red, pink, or blue may also be seen.(bottom left image) D = Diameter.There is a change in size, usually an increase. Melanomas can be tiny, but most are larger than the size of a pea (larger than 6 millimeters or about 1/4 inch). (bottom right image) E = Evolving. The mole has changed over the past few weeks or months. Other symptoms of skin cancer include a bleeding mole or the appearance of more moles around the first one.
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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 blood clots and is important for wound healing, creating the framework for normal tissue to grow back. Excess fibrin is broken down when no longer needed, and the new, more flexible normal tissue takes its place. PLG gene mutations can decrease the amount of plasminogen that is produced, its function, or both. When the mutations affect plasminogen levels as well as the activity of the protein, affected individuals may be said to have type I congenital plasminogen deficiency, characterized by the ligneous growths previously described. People with mutations that result in normal levels of plasminogen with reduced activity are said to have type II congenital plasminogen deficiency or dysplasminogenemia. This form of the condition often has no symptoms. A reduction in functional plasminogen results in less plasmin to break down fibrin, leading to a buildup of fibrin. The excess fibrin and the resulting inflammation of the tissue result in the inflamed woody growths characteristic of congenital plasminogen deficiency. It is unclear why the excess fibrin builds up in the mucous membranes but does not usually result in abnormal clots in the blood vessels (thromboses). Researchers suggest that other enzymes in the blood may also break down fibrin, helping to compensate for the reduced plasminogen levels.
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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 MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Pulmonary hypertension 90% Respiratory insufficiency 90% Hypoplastic left heart 50% Intestinal malrotation 50% Patent ductus arteriosus 50% Abnormal form of the vertebral bodies 7.5% Abnormality of the aorta 7.5% Abnormality of the aortic valve 7.5% Abnormality of the gallbladder 7.5% Abnormality of the pulmonary valve 7.5% Abnormality of the spleen 7.5% Abnormality of the upper urinary tract 7.5% Aganglionic megacolon 7.5% Annular pancreas 7.5% Atria septal defect 7.5% Complete atrioventricular canal defect 7.5% Duodenal stenosis 7.5% Single umbilical artery 7.5% Tetralogy of Fallot 7.5% Tracheoesophageal fistula 7.5% Urogenital fistula 7.5% Ventricular septal defect 7.5% Abnormal lung lobation - Abnormality of the pulmonary veins - Autosomal recessive inheritance - Duodenal atresia - Hydronephrosis - Hydroureter - Hypertension - Meckel diverticulum - Neonatal death - Polyhydramnios - Pulmonary insufficiency - Right-to-left shunt - 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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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 use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Emotional lability 5% Autosomal recessive inheritance - Babinski sign - Delayed speech and language development - Dysarthria - Hyporeflexia - Nystagmus - Optic atrophy - Slow progression - Spastic ataxia - Spastic paraparesis - 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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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 Role No one knows what causes T cells to go wrong, but certain genes have been linked to psoriasis. People who have these genes are more likely to develop psoriasis than people without the genes. However, genes alone do not cause psoriasis. Scientists believe psoriasis occurs when something in the environment triggers the disease in someone who has one or more of these genes. Psoriasis Triggers These so-called triggers may be different for different people. Different triggers may start the disease or make it worse in different people. Factors that may trigger psoriasis or make it worse include - physical and emotional stress - injury to the skin such as cuts or burns - infections, particularly strep throat - cold weather - smoking or heavy alcohol use - certain medications such as - lithium, a psychiatric drug - antimalarials such as hydroxychloroquine and chloroquine - inderal, a high blood pressure medicine - quinidine, a heart medication - indomethacin, a nonsteroidal anti-inflammatory drug often used to treat arthritis. physical and emotional stress injury to the skin such as cuts or burns infections, particularly strep throat cold weather smoking or heavy alcohol use certain medications such as - lithium, a psychiatric drug - antimalarials such as hydroxychloroquine and chloroquine - inderal, a high blood pressure medicine - quinidine, a heart medication - indomethacin, a nonsteroidal anti-inflammatory drug often used to treat arthritis. lithium, a psychiatric drug antimalarials such as hydroxychloroquine and chloroquine inderal, a high blood pressure medicine quinidine, a heart medication indomethacin, a nonsteroidal anti-inflammatory drug often used to treat arthritis.
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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 tomography (CT) scans - urodynamic tests - electromyography Physical Exam A health care provider may suspect urinary retention because of a patients symptoms and, therefore, perform a physical exam of the lower abdomen. The health care provider may be able to feel a distended bladder by lightly tapping on the lower belly. Postvoid Residual Measurement This test measures the amount of urine left in the bladder after urination. The remaining urine is called the postvoid residual. A specially trained technician performs an ultrasound, which uses harmless sound waves to create a picture of the bladder, to measure the postvoid residual. The technician performs the bladder ultrasound in a health care providers office, a radiology center, or a hospital, and a radiologista doctor who specializes in medical imaginginterprets the images. The patient does not need anesthesia. A health care provider may use a cathetera thin, flexible tubeto measure postvoid residual. The health care provider inserts the catheter through the urethra into the bladder, a procedure called catheterization, to drain and measure the amount of remaining urine. A postvoid residual of 100 mL or more indicates the bladder does not empty completely. A health care provider performs this test during an office visit. The patient often receives local anesthesia. Medical Tests Cystoscopy. Cystoscopy is a procedure that requires a tubelike instrument, called a cystoscope, to look inside the urethra and bladder. A health care provider performs cystoscopy during an office visit or in an outpatient center or a hospital. The patient will receive local anesthesia. However, in some cases, the patient may receive sedation and regional or general anesthesia. A health care provider may use cystoscopy to diagnose urethral stricture or look for a bladder stone blocking the opening of the urethra. More information is provided in the NIDDK health topic, Cystoscopy and Ureteroscopy. CT scans. CT scans use a combination of x rays and computer technology to create images. For a CT scan, a health care provider may give the patient a solution to drink and an injection of a special dye, called contrast medium. CT scans require the patient to lie on a table that slides into a tunnel-shaped device where a technician takes the x rays. An x-ray technician performs the procedure in an outpatient center or a hospital, and a radiologist interprets the images. The patient does not need anesthesia. A health care provider may give infants and children a sedative to help them fall asleep for the test. CT scans can show - urinary tract stones - UTIs - tumors - traumatic injuries - abnormal, fluid-containing sacs called cysts Urodynamic tests. Urodynamic tests include a variety of procedures that look at how well the bladder and urethra store and release urine. A health care provider may use one or more urodynamic tests to diagnose urinary retention. The health care provider will perform these tests during an office visit. For tests that use a catheter, the patient often receives local anesthesia. - Uroflowmetry. Uroflowmetry measures urine speed and volume. Special equipment automatically measures the amount of urine and the flow ratehow fast urine comes out. Uroflowmetry equipment includes a device for catching and measuring urine and a computer to record the data. The equipment creates a graph that shows changes in flow rate from second to second so the health care provider can see the highest flow rate and how many seconds it takes to get there. A weak bladder muscle or blocked urine flow will yield an abnormal test result. - Pressure flow study. A pressure flow study measures the bladder pressure required to urinate and the flow rate a given pressure generates. A health care provider places a catheter with a manometer into the bladder. The manometer measures bladder pressure and flow rate as the bladder empties. A pressure flow study helps diagnose bladder outlet obstruction. - Video urodynamics. This test uses x rays or ultrasound to create real-time images of the bladder and urethra during the filling or emptying of the bladder. For x rays, a health care provider passes a catheter through the urethra into the bladder. He or she fills the bladder with contrast medium, which is visible on the video images. Video urodynamic images can show the size and shape of the urinary tract, the flow of urine, and causes of urinary retention, such as bladder neck obstruction. More information is provided in the NIDDK health topic, Urodynamic Testing. Electromyography. Electromyography uses special sensors to measure the electrical activity of the muscles and nerves in and around the bladder and sphincters. A specially trained technician places sensors on the skin near the urethra and rectum or on a urethral or rectal catheter. The sensors record, on a machine, muscle and nerve activity. The patterns of the nerve impulses show whether the messages sent to the bladder and sphincters coordinate correctly. A technician performs electromyography in a health care providers office, an outpatient center, or a hospital. The patient does not need anesthesia if the technician uses sensors placed on the skin. The patient will receive local anesthesia if the technician uses sensors placed on a urethral or rectal catheter.
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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 short stature may be influenced by the concerns and expectations of the parents. One reasonable approach is to address the parents' concerns about the height of their child rather than attempting to treat the child. Developmental intervention and special education may be appropriate, if it is indicated in the affected individual. If spinal stenosis (narrowing of the spine) is present, a procedure called a laminectomy may be considered. This is a type of surgery that can take pressure off the spinal nerves or spinal canal. However, one study found that about 70% of symptomatic individuals with achondroplasia experienced total relief of symptoms following decompression, without having a laminectomy. Decompression is a less invasive procedure. Support groups can help the affected individual and the family adapt to short stature through peer support, personal example, and social awareness programs. Support groups may offer information on employment, education, disability rights, adoption of children of short stature, medical issues, suitable clothing, adaptive devices, and parenting through local meetings, workshops and seminars. To see the contact information for several support groups for hypochondroplasia, click here. Sometimes, for individuals with hypochondroplasia who are more severely affected, the features may overlap with those of achondroplasia. In these cases, recommendations for the management of achondroplasia (outlined by the American Academy of Pediatrics Committee on Genetics) may be considered. The full report on these recommendations may be viewed here. For a more limited description of management of achondroplasia on our Web site, click here.
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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. - A mass in the vagina. - Pain or a feeling of fullness in the abdomen. - Frequent urination.
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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 assistive devices can make daily tasks easier. About one in every five people in the United States has a disability. Some people are born with one. Others have them as a result of an illness or injury. Some people develop them as they age. Almost all of us will have a disability at some point in our lives. Department of Health and Human Services
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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 symptoms. When hypertension, diabetes or hypercholesterolemia (high cholesterol) are also present, they should be treated. Supportive care, including practical help, emotional support, and counseling, is useful for affected people and their families. Smoking increases the risk of stroke, so affected people who smoke should quit.
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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 types of standard treatment are used: - Surgery - Radiation therapy - Chemotherapy - Surveillance - High-dose chemotherapy with stem cell transplant - New types of treatment are being tested in clinical trials. - 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 testicular cancer. Different types of treatments are available for patients with testicular cancer. 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. Testicular tumors are divided into 3 groups, based on how well the tumors are expected to respond to treatment. Good Prognosis For nonseminoma, all of the following must be true: - The tumor is found only in the testicle or in the retroperitoneum (area outside or behind the abdominal wall); and - The tumor has not spread to organs other than the lungs; and - The levels of all the tumor markers are slightly above normal. For seminoma, all of the following must be true: - The tumor has not spread to organs other than the lungs; and - The level of alpha-fetoprotein (AFP) is normal. Beta-human chorionic gonadotropin (-hCG) and lactate dehydrogenase (LDH) may be at any level. Intermediate Prognosis For nonseminoma, all of the following must be true: - The tumor is found in one testicle only or in the retroperitoneum (area outside or behind the abdominal wall); and - The tumor has not spread to organs other than the lungs; and - The level of any one of the tumor markers is more than slightly above normal. For seminoma, all of the following must be true: - The tumor has spread to organs other than the lungs; and - The level of AFP is normal. -hCG and LDH may be at any level. Poor Prognosis For nonseminoma, at least one of the following must be true: - The tumor is in the center of the chest between the lungs; or - The tumor has spread to organs other than the lungs; or - The level of any one of the tumor markers is high. There is no poor prognosis grouping for seminoma testicular tumors. Five types of standard treatment are used: Surgery Surgery to remove the testicle (inguinal orchiectomy) and some of the lymph nodes may be done at diagnosis and staging. (See the General Information and Stages sections of this summary.) Tumors that have spread to other places in the body may be partly or entirely removed by surgery. Even if the doctor removes all the cancer that can be seen at the time of the surgery, some patients may be given chemotherapy or radiation therapy after surgery to kill any cancer cells that are left. Treatment given after the surgery, to lower the risk that the cancer will come back, is called adjuvant therapy. 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 and stage of the cancer being treated. External radiation therapy is used to treat testicular cancer. Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping the cells from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). The way the chemotherapy is given depends on the type and stage of the cancer being treated. See Drugs Approved for Testicular Cancer for more information. Surveillance Surveillance is closely following a patient's condition without giving any treatment unless there are changes in test results. It is used to find early signs that the cancer has recurred (come back). In surveillance, patients are given certain exams and tests on a regular schedule. High-dose chemotherapy with stem cell transplant High-dose chemotherapy with stem cell transplant is a method of giving high doses of 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. See Drugs Approved for Testicular Cancer for more information. New types of treatment are being tested in clinical trials. Information about clinical trials is available from the NCI website. 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. Men who have had testicular cancer have an increased risk of developing cancer in the other testicle. A patient is advised to regularly check the other testicle and report any unusual symptoms to a doctor right away. Long-term clinical exams are very important. The patient will probably have check-ups frequently during the first year after surgery and less often after that. Treatment Options by Stage Stage 0 (Testicular Intraepithelial Neoplasia) Treatment of stage 0 may include the following: - Radiation therapy. - Surveillance. - Surgery to remove the testicle. Check the list of NCI-supported cancer clinical trials that are now accepting patients with testicular cancer. 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 Testicular Cancer Treatment of stage I testicular cancer depends on whether the cancer is a seminoma or a nonseminoma. Treatment of seminoma may include the following: - Surgery to remove the testicle, followed by surveillance. - For patients who want active treatment rather than surveillance, treatment may include: - - Surgery to remove the testicle, followed by chemotherapy. Treatment of nonseminoma may include the following: - Surgery to remove the testicle, with long-term follow-up. - Surgery to remove the testicle and lymph nodes in the abdomen, with long-term follow-up. - Surgery followed by chemotherapy for patients at high risk of recurrence, with long-term follow-up. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage I testicular cancer. 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 II Testicular Cancer Treatment of stage II testicular cancer depends on whether the cancer is a seminoma or a nonseminoma. Treatment of seminoma may include the following: - When the tumor is 5 centimeters or smaller: - Surgery to remove the testicle, followed by radiation therapy to lymph nodes in the abdomen and pelvis. - Combination chemotherapy. - Surgery to remove the testicle and lymph nodes in the abdomen. - When the tumor is larger than 5 centimeters: - Surgery to remove the testicle, followed by combination chemotherapy or radiation therapy to lymph nodes in the abdomen and pelvis, with long-term follow-up. Treatment of nonseminoma may include the following: - Surgery to remove the testicle and lymph nodes, with long-term follow-up. - Surgery to remove the testicle and lymph nodes, followed by combination chemotherapy and long-term follow-up. - Surgery to remove the testicle, followed by combination chemotherapy and a second surgery if cancer remains, with long-term follow-up. - Combination chemotherapy before surgery to remove the testicle, for cancer that has spread and is thought to be life-threatening. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage II testicular cancer. 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 III Testicular Cancer Treatment of stage III testicular cancer depends on whether the cancer is a seminoma or a nonseminoma. Treatment of seminoma may include the following: - Surgery to remove the testicle, followed by combination chemotherapy. If there are tumors remaining after chemotherapy, treatment may be one of the following: - Surveillance with no treatment unless tumors grow. - Surveillance for tumors smaller than 3 centimeters and surgery to remove tumors larger than 3 centimeters. - A PET scan two months after chemotherapy and surgery to remove tumors that show up with cancer on the scan. - A clinical trial of chemotherapy. Treatment of nonseminoma may include the following: - Surgery to remove the testicle, followed by combination chemotherapy. - Combination chemotherapy followed by surgery to remove the testicle and all remaining tumors. Additional chemotherapy may be given if the tumor tissue removed contains cancer cells that are growing or if follow-up tests show that cancer is progressing. - Combination chemotherapy before surgery to remove the testicle, for cancer that has spread and is thought to be life-threatening. - A clinical trial of chemotherapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage III testicular cancer. 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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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 premature breakdown of red blood cells (hemolysis), it is known as hemolytic anemia. A shortage of red blood cells to carry oxygen throughout the body leads to extreme tiredness (fatigue), pale skin (pallor), and shortness of breath. When the red cells are broken down, iron and a molecule called bilirubin are released; individuals with triosephosphate isomerase deficiency have an excess of these substances circulating in the blood. Excess bilirubin in the blood causes jaundice, which is a yellowing of the skin and the whites of the eyes. Movement problems typically become apparent by age 2 in people with triosephosphate isomerase deficiency. The movement problems are caused by impairment of motor neurons, which are specialized nerve cells in the brain and spinal cord that control muscle movement. This impairment leads to muscle weakness and wasting (atrophy) and causes the movement problems typical of triosephosphate isomerase deficiency, including involuntary muscle tensing (dystonia), tremors, and weak muscle tone (hypotonia). Affected individuals may also develop seizures. Weakness of other muscles, such as the heart (a condition known as cardiomyopathy) and the muscle that separates the abdomen from the chest cavity (the diaphragm) can also occur in triosephosphate isomerase deficiency. Diaphragm weakness can cause breathing problems and ultimately leads to respiratory failure. Individuals with triosephosphate isomerase deficiency are at increased risk of developing infections because they have poorly functioning white blood cells. These immune system cells normally recognize and attack foreign invaders, such as viruses and bacteria, to prevent infection. The most common infections in people with triosephosphate isomerase deficiency are bacterial infections of the respiratory tract. People with triosephosphate isomerase deficiency often do not survive past childhood due to respiratory failure. In a few rare cases, affected individuals without severe nerve damage or muscle weakness have lived into adulthood.
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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. Treatment depends on the cause.
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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 unusual. A history of the patients health habits and past illnesses and treatments will also be taken. - Biopsy : The removal of cells or tissues so they can be viewed under a microscope by a pathologist to check for signs of cancer. The tissue sample is removed during one of the following procedures: - Fine-needle aspiration (FNA) biopsy : The removal of tissue or fluid using a thin needle. - Incisional biopsy : The removal of part of a lump or a sample of tissue that doesn't look normal. - Excisional biopsy : The removal of an entire lump or area of tissue that doesnt look normal.
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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 features of autism or related developmental disorders affecting communication and social interaction. People with Myhre syndrome often have hearing loss, which can be caused by changes in the inner ear (sensorineural deafness), changes in the middle ear (conductive hearing loss), or both (mixed hearing loss). Growth is reduced in people with this disorder, beginning before birth and continuing through adolescence. Affected individuals have a low birth weight and are generally shorter than about 97 percent of their peers throughout life. People with Myhre syndrome typically have stiffness of the skin and are usually described as having a muscular appearance. Skeletal abnormalities associated with this disorder include thickening of the skull bones, flattened bones of the spine (platyspondyly), broad ribs, underdevelopment of the winglike structures of the pelvis (hypoplastic iliac wings), and unusually short fingers and toes (brachydactyly). Affected individuals often have joint problems (arthropathy), including stiffness and limited mobility. Typical facial features in people with Myhre syndrome include narrow openings of the eyelids (short palpebral fissures), a shortened distance between the nose and upper lip (a short philtrum), a sunken appearance of the middle of the face (midface hypoplasia), a small mouth with a thin upper lip, and a protruding jaw (prognathism). Some affected individuals also have an opening in the roof of the mouth (a cleft palate), a split in the lip (a cleft lip), or both. Other features that occur in some people with this disorder include constriction of the throat (laryngotracheal stenosis), high blood pressure (hypertension), heart or eye abnormalities, and in males, undescended testes (cryptorchidism). A disorder sometimes called laryngotracheal stenosis, arthropathy, prognathism, and short stature (LAPS) syndrome is now generally considered to be the same condition as Myhre syndrome because it has similar symptoms and the same genetic cause.
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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 response to injury, fibrinogen is converted to fibrin, the main protein in blood clots. Fibrin proteins attach to each other, forming a stable network that makes up the blood clot. Congenital afibrinogenemia is caused by a complete absence of fibrinogen protein. Most FGA, FGB, and FGG gene mutations that cause this condition result in a premature stop signal in the instructions for making the respective protein. If any protein is made, it is nonfunctional. When any one subunit is missing, the fibrinogen protein is not assembled, which results in the absence of fibrin. Consequently, blood clots do not form in response to injury, leading to the excessive bleeding seen in people with congenital afibrinogenemia.
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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 develops by early adulthood, most often in adolescence. Symptoms of high blood sugar may include frequent urination, excessive thirst, fatigue, blurred vision, tingling or loss of feeling in the hands and feet, and weight loss. The exact cause of DM1 is unknown, but having certain "variants" of specific genes may increase a person's risk to develop the condition. A predisposition to develop DM1 runs in families, but no known inheritance pattern exists. Treatment includes blood sugar control and insulin replacement therapy. Improper control can cause recurrence of high blood sugar, or abnormally low blood sugar (hypoglycemia) during exercise or when eating is delayed. If not treated, the condition can be life-threatening. Over many years, chronic high blood sugar may be associated with a variety of complications that affect many parts of the body.
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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 Autistic and/or self-destructive behaviors Skeletal abnormalities of the arms and hands Gastrointestinal problems Hirsutism (excess hair growth) Hearing loss Myopia Congenital heart defects Genital abnormalities (i.e. cryptorchidism) Seizures Affected people typically have distinctive craniofacial features, as well, which may include microcephaly; arched eyebrows that often grow together in the middle (synophrys); long eyelashes; low-set ears; small, widely spaced teeth; and a small, upturned nose. The Human Phenotype Ontology provides the following list of signs and symptoms for Cornelia de Lange syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of calvarial morphology 90% Abnormality of the eyelashes 90% Abnormality of the metacarpal bones 90% Abnormality of the voice 90% Anteverted nares 90% Atresia of the external auditory canal 90% Cognitive impairment 90% Delayed eruption of teeth 90% Delayed skeletal maturation 90% Depressed nasal bridge 90% Downturned corners of mouth 90% Highly arched eyebrow 90% Hypertonia 90% Long philtrum 90% Low anterior hairline 90% Low posterior hairline 90% Microcephaly 90% Micromelia 90% Proximal placement of thumb 90% Short neck 90% Short nose 90% Short palm 90% Short stature 90% Short toe 90% Synophrys 90% Thick eyebrow 90% Thin vermilion border 90% Toe syndactyly 90% Abnormality of female external genitalia 50% Aplasia/Hypoplasia of the nipples 50% Attention deficit hyperactivity disorder 50% Blepharitis 50% Clinodactyly of the 5th finger 50% Conductive hearing impairment 50% Cryptorchidism 50% Cutis marmorata 50% Displacement of the external urethral meatus 50% Elbow dislocation 50% Hypoplasia of penis 50% Intrauterine growth retardation 50% Limitation of joint mobility 50% Low-set, posteriorly rotated ears 50% Microcornea 50% Multicystic kidney dysplasia 50% Myopia 50% Neurological speech impairment 50% Obsessive-compulsive behavior 50% Premature birth 50% Ptosis 50% Radioulnar synostosis 50% Reduced number of teeth 50% Sensorineural hearing impairment 50% Single transverse palmar crease 50% Sleep disturbance 50% Vesicoureteral reflux 50% Abnormality of the hip bone 7.5% Aplasia/Hypoplasia of the cerebellum 7.5% Atria septal defect 7.5% Autism 7.5% Cataract 7.5% Cerebral cortical atrophy 7.5% Choanal atresia 7.5% Cleft palate 7.5% Congenital diaphragmatic hernia 7.5% Glaucoma 7.5% Increased nuchal translucency 7.5% Intestinal malrotation 7.5% Macrotia 7.5% Muscular hypotonia 7.5% Nystagmus 7.5% Pectus excavatum 7.5% Peripheral neuropathy 7.5% Prenatal movement abnormality 7.5% Primary amenorrhea 7.5% Pyloric stenosis 7.5% Renal insufficiency 7.5% Seizures 7.5% Split hand 7.5% Strabismus 7.5% Talipes 7.5% Truncal obesity 7.5% Ventricular septal defect 7.5% Ventriculomegaly 7.5% Volvulus 7.5% Proteinuria 5% Renal cyst 5% Renal hypoplasia 5% 2-3 toe syndactyly - Abnormality of the umbilicus - Astigmatism - Autosomal dominant inheritance - Behavioral abnormality - Brachycephaly - Cleft upper lip - Curly eyelashes - Delayed speech and language development - Duplication of internal organs - Ectopic kidney - Elbow flexion contracture - Gastroesophageal reflux - Hiatus hernia - High palate - Hirsutism - Hypoplasia of the radius - Hypoplastic labia majora - Hypoplastic male external genitalia - Hypoplastic nipples - Hypoplastic radial head - Hypospadias - Inguinal hernia - Intellectual disability - Limited elbow extension - Long eyelashes - Low-set ears - Malrotation of colon - Oligodactyly (hands) - Optic atrophy - Optic nerve coloboma - Phenotypic variability - Phocomelia - Pneumonia - Proptosis - Reduced renal corticomedullary differentiation - Self-injurious behavior - Short sternum - Sporadic - Supernumerary ribs - Thrombocytopenia - Weak cry - Widely spaced teeth - 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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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, and the jejunum. Problems with the small intestine can include: - Bleeding - Celiac disease - Crohn's disease - Infections - Intestinal cancer - Intestinal obstruction - Irritable bowel syndrome - Ulcers, such as peptic ulcer Treatment of disorders of the small intestine depends on the cause.
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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 MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis 90% Cognitive impairment 90% Neurological speech impairment 90% Abnormality of movement 50% Aganglionic megacolon 50% Autism 50% Constipation 50% Decreased body weight 50% Hypertonia 50% Hypoplasia of the zygomatic bone 50% Incoordination 50% Intestinal obstruction 50% Muscular hypotonia 50% Open mouth 50% Seizures 50% Short stature 50% Cutis laxa 7.5% Joint hypermobility 7.5% Mask-like facies 7.5% Microcephaly 7.5% Ptosis 7.5% Aggressive behavior - Attention deficit hyperactivity disorder - Broad forehead - Delayed myelination - Delayed speech and language development - Dystonia - Exotropia - Failure to thrive - Feeding difficulties in infancy - Gait disturbance - Hypermetropia - Hypoplasia of midface - Hypoplasia of the corpus callosum - Ileus - Impaired social interactions - Infantile onset - Intellectual disability - Long face - Malar flattening - Mandibular prognathia - Motor delay - Myopathic facies - Narrow face - Neonatal hypotonia - Pes cavus - Poor hand-eye coordination - Spasticity - Stereotypic behavior - Tall stature - Underfolded superior helices - Vomiting - X-linked 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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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, turkey, and tuna are good sources) or supplements - with red blood cell counts returning to near-normal values. Folic acid supplementation may also be beneficial. Those that do not respond to vitamin supplementation require blood transfusion. A few small studies have described the use of allogenic bone marrow or stem cell transplantation for hereditary and congenital forms of sideroblastic anemia. While these therapies may offer the possibility of a cure, the complications associated with transplantation surgery must be considered. All patients with sideroblastic anemia should be followed by a hematologist and avoid alcohol.
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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 system and muscles breaks down. As a result, your muscles weaken and waste away. The weakness can lead to twitching, cramps, aches and pains, and joint and movement problems. Sometimes it also affects heart function and your ability to breathe. Examples of neuromuscular disorders include - Amyotrophic lateral sclerosis - Multiple sclerosis - Myasthenia gravis - Spinal muscular atrophy Many neuromuscular diseases are genetic, which means they run in families or there is a mutation in your genes. Sometimes, an immune system disorder can cause them. Most of them have no cure. The goal of treatment is to improve symptoms, increase mobility and lengthen life.
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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 growth of the brain; premature closure of a single suture restricts the growth in that part of the skull and promotes growth in other parts of the skull where sutures remain open. This results in a misshapen skull but does not prevent the brain from expanding to a normal volume. However, when many sutures close prematurely, the skull cannot expand to accommodate the growing brain, which leads to increased pressure within the skull and impaired development of the brain. Craniosynostosis can be gene-linked or caused by metabolic diseases (such as rickets )or an overactive thyroid. Some cases are associated with other disorders such as microcephaly (abnormally small head) and hydrocephalus (excessive accumulation of cerebrospinal fluid in the brain). The first sign of craniosynostosis is an abnormally shaped skull. Other features can include signs of increased intracranial pressure, developmental delays, or impaired cognitive development, which are caused by constriction of the growing brain. Seizures and blindness may also occur.
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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 arteries to narrow or become blocked. This can reduce or stop blood flow, usually to the legs. If severe enough, blocked blood flow can cause tissue death and can sometimes lead to amputation of the foot or leg. The main risk factor for PAD is smoking. Other risk factors include older age and diseases like diabetes, high blood cholesterol, high blood pressure, heart disease, and stroke. Many people who have PAD don't have any symptoms. If you have symptoms, they may include - Pain, numbness, achiness, or heaviness in the leg muscles. This happens when walking or climbing stairs. - Weak or absent pulses in the legs or feet - Sores or wounds on the toes, feet, or legs that heal slowly, poorly, or not at all - A pale or bluish color to the skin - A lower temperature in one leg than the other leg - Poor nail growth on the toes and decreased hair growth on the legs - Erectile dysfunction, especially among men who have diabetes PAD can increase your risk of heart attack, stroke, and transient ischemic attack. Doctors diagnose PAD with a physical exam and heart and imaging tests. Treatments include lifestyle changes, medicines, and sometimes surgery. Lifestyle changes include dietary changes, exercise, and efforts to lower high cholesterol levels and high blood pressure. NIH: National Heart, Lung, and Blood Institute
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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 technician performs the procedure in a health care providers offi ce, outpatient center, or hospital, and a radiologista doctor who specializes in medical imaginginterprets the images. Anesthesia is not needed. If gallstones are present, they will be visible in the image. Ultrasound is the most accurate method to detect gallstones. - Computerized tomography (CT) scan. A CT scan is an x ray that produces pictures of the body. A CT scan may include the injection of a special dye, called contrast medium. CT scans use a combination of x rays and computer technology to create three-dimensional (3-D) images. CT scans require the person to lie on a table that slides into a tunnel-shaped device where the x rays are taken. An x-ray technician performs the procedure in an outpatient center or hospital, and a radiologist interprets the images. Anesthesia is not needed. CT scans can show gallstones or complications, such as infection and blockage of the gallbladder or bile ducts. However, CT scans can miss gallstones that are present. - Magnetic resonance imaging (MRI). MRI machines use radio waves and magnets to produce detailed pictures of the bodys internal organs and soft tissues without using x rays. A specially trained technician performs the procedure in an outpatient center or hospital, and a radiologist interprets the images. Anesthesia is not needed, though people with a fear of confi ned spaces may receive light sedation. An MRI may include the injection of contrast medium. With most MRI machines, the person lies on a table that slides into a tunnel-shaped device that may be open ended or closed at one end; some newer machines allow the person to lie in a more open space. MRIs can show gallstones in the ducts of the biliary system. - Cholescintigraphy. Cholescintigraphyalso called a hydroxyl iminodiacetic acid scan, HIDA scan, or hepatobiliary scanuses an unharmful radioactive material to produce pictures of the biliary system. In cholescintigraphy, the person lies on an exam table and a health care provider injects a small amount of unharmful radioactive material into a vein in the persons arm. The health care provider may also inject a substance that causes the gallbladder to contract. A special camera takes pictures of the radioactive material as it moves through the biliary system. A specially trained technician performs the procedure in an outpatient center or hospital, and a radiologist interprets the images. Anesthesia is not needed. Cholescintigraphy is used to diagnose abnormal contractions of the gallbladder or obstruction of the bile ducts. - Endoscopic retrograde cholangiopancreatography (ERCP). ERCP uses an x ray to look into the bile and pancreatic ducts. After lightly sedating the person, the health care provider inserts an endoscopea small, flexible tube with a light and a camera on the endthrough the mouth into the duodenum and bile ducts. The endoscope is connected to a computer and video monitor. The health care provider injects contrast medium through the tube into the bile ducts, which makes the ducts show up on the monitor. The health care provider performs the procedure in an outpatient center or hospital. ERCP helps the health care provider locate the affected bile duct and the gallstone. The stone is captured in a tiny basket attached to the endoscope and removed. This test is more invasive than other tests and is used selectively. Health care providers also use blood tests to look for signs of infection or in flammation of the bile ducts, gallbladder, pancreas, or liver. A blood test involves drawing blood at a health care providers offi ce or commercial facility and sending the sample to a lab for analysis. Gallstone symptoms may be similar to those of other conditions, such as appendicitis, ulcers, pancreatitis, and gastroesophageal refl ux disease. Sometimes, silent gallstones are found when a person does not have any symptoms. For example, a health care provider may notice gallstones when performing ultrasound for a different reason.
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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 soft tissue sarcoma may cause side effects. - Eight types of standard treatment are used: - Surgery - Radiation therapy - Chemotherapy - Observation - Hormone therapy - Nonsteroidal anti-inflammatory drugs - Targeted therapy - Immunotherapy - New types of treatment are being tested in clinical trials. - Gene 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 childhood soft tissue sarcoma. Different types of treatments are available for patients with childhood soft tissue sarcoma. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Because cancer in children is rare, taking part in a clinical trial should be considered. Some clinical trials are open only to patients who have not started treatment. Children with 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 will be overseen by a pediatric oncologist, a doctor who specializes in treating children with cancer. The pediatric oncologist works with other health care providers who are experts in treating children with soft tissue sarcoma and who specialize in certain areas of medicine. These may include a pediatric surgeon with special training in the removal of soft tissue sarcomas. The following specialists may also be included: - Pediatrician. - Radiation oncologist. - Pediatric hematologist. - Pediatric nurse specialist. - Rehabilitation specialist. - Psychologist. - Social worker. - Child-life specialist. Treatment for childhood soft tissue sarcoma may cause side effects. For information about side effects that begin during treatment for cancer, see our Side Effects page. Side effects from cancer treatment that begin after treatment and continue for months or years are called late effects. Late effects of cancer treatment may include: - Physical problems. - Changes in mood, feelings, thinking, learning, or memory. - Second cancers (new types of cancer). Some late effects may be treated or controlled. It is important to talk with your child's doctors about the effects cancer treatment can have on your child. (See the PDQ summary on Late Effects of Treatment for Childhood Cancer for more information.) Eight types of standard treatment are used: Surgery Surgery to completely remove the soft tissue sarcoma is done when possible. If the tumor is very large, radiation therapy or chemotherapy may be given first, to make the tumor smaller and decrease the amount of tissue that needs to be removed during surgery. This is called neoadjuvant therapy. The following types of surgery may be used: - Wide local excision: Removal of the tumor along with some normal tissue around it. - Amputation: Surgery to remove all or part of the limb or appendage with cancer, such as the arm or hand. - Lymphadenectomy: Removal of the lymph nodes with cancer. - Mohs surgery: A surgical procedure used to treat cancer in the skin. Individual layers of cancer tissue are removed and checked under a microscope one at a time until all cancer tissue has been removed. This type of surgery is used to treat dermatofibrosarcoma protuberans. It is also called Mohs micrographic surgery. - Hepatectomy: Surgery to remove all or part of the liver. A second surgery may be needed to: - Remove any remaining cancer cells. - Check the area around where the tumor was removed for cancer cells and then remove more tissue if needed. If cancer is in the liver, a hepatectomy and liver transplant may be done (the liver is removed and replaced with a healthy one from a donor). Even if the doctor removes all the cancer that can be seen at the time of the surgery, some patients may be given radiation therapy or chemotherapy after surgery to kill any cancer cells that are left. Treatment given after the surgery, to lower the risk that the cancer will come back, is called adjuvant therapy. 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. Certain ways of giving radiation therapy can help keep radiation from damaging nearby healthy tissue. This type of radiation therapy may include the following: - Stereotactic body radiation therapy: Stereotactic body radiation therapy is a type of external radiation therapy. Special equipment is used to place the patient in the same position for each radiation treatment. Once a day for several days, a radiation machine aims a larger than usual dose of radiation directly at the tumor. By having the patient in the same position for each treatment, there is less damage to nearby healthy tissue. This procedure is also called stereotactic external-beam radiation therapy and stereotaxic radiation therapy. - 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 and stage of the cancer being treated and whether the tumor was completely removed by surgery. External and internal radiation therapy are used to treat childhood soft tissue sarcoma. Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). Combination chemotherapy is the use of more than one anticancer drug. The way the chemotherapy is given depends on the type of cancer being treated. Most types of soft tissue sarcoma do not respond to treatment with chemotherapy. See Drugs Approved for Soft Tissue Sarcoma for more information. Observation Observation is closely monitoring a patients condition without giving any treatment until signs or symptoms appear or change. Observation may be done when: - Complete removal of the tumor is not possible. - No other treatments are available. - The tumor is not likely to damage any vital organs. Hormone therapy Hormone therapy is a cancer treatment that removes hormones or blocks their action and stops cancer cells from growing. Hormones are substances made by glands in the body and circulated in the bloodstream. Some hormones can cause certain cancers to grow. If tests show that the cancer cells have places where hormones can attach (receptors), drugs, surgery, or radiation therapy is used to reduce the production of hormones or block them from working. Antiestrogens (drugs that block estrogen), such as tamoxifen, may be used to treat desmoid-type fibromatosis. Nonsteroidal anti-inflammatory drugs Nonsteroidal anti-inflammatory drugs (NSAIDs) are drugs (such as aspirin, ibuprofen, and naproxen) that are commonly used to decrease fever, swelling, pain, and redness. In the treatment of desmoid-type fibromatosis, an NSAID called sulindac may be used to help block the growth of cancer cells. Targeted therapy Targeted therapy is a type of treatment that uses drugs or other substances to attack cancer cells. Targeted therapies usually cause less harm to normal cells than chemotherapy or radiation do. Kinase inhibitors are a type of targeted therapy that block an enzyme called kinase (a type of protein). There are different types of kinases in the body that have different actions. - ALK inhibitors may stop the cancer from growing and spreading: - Crizotinib may be used to treat inflammatory myofibroblastic tumor. - Tyrosine kinase inhibitors (TKIs) block signals needed for tumors to grow: - Imatinib is used to treat dermatofibrosarcoma protuberans. - Pazopanib may be used to treat recurrent and progressive soft tissue sarcoma. It is being studied for many types of newly diagnosed soft tissue sarcoma. - Sorafenib may be used to treat desmoid-type fibromatosis. New types of tyrosine kinase inhibitors are being studied such as LOXO-101 and entrectinib for infantile fibrosarcoma. Other types of targeted therapy are being studied in clinical trials, including the following: - mTOR inhibitors are a type of targeted therapy that stops the protein that helps cells divide and survive. mTOR inhibitors are being studied to treat perivascular epithelioid cell tumors (PEComas) and epithelioid hemangioendothelioma. Sirolimus is a type of mTOR inhibitor therapy. - Angiogenesis inhibitors are a type of targeted therapy that prevent the growth of new blood vessels needed for tumors to grow. Angiogenesis inhibitors, such as cediranib, sunitinib, and thalidomide are being studied to treat alveolar soft part sarcoma and epithelioid hemangioendothelioma. Bevacizumab is being studied for blood vessel tumors. - Histone methyltransferase (HMT) inhibitors are targeted therapy drugs that work inside cancer cells and block signals needed for tumors to grow. HMT inhibitors are being studied for the treatment of epithelioid sarcoma, malignant peripheral nerve sheath tumor, extrarenal (extracranial) rhabdoid tumor, extraskeletal myxoid chondrosarcoma, and synovial sarcoma. - Heat-shock protein inhibitors block certain proteins that protect tumor cells and help them grow. Ganetespib is a heat shock protein inhibitor being studied in combination with the mTOR inhibitor sirolimus for malignant peripheral nerve sheath tumors that cannot be removed by surgery. - Antibody-drug conjugates are made up of a monoclonal antibody attached to a drug. The monoclonal antibody binds to specific proteins or receptors found on certain cells, including cancer cells. The drug enters these cells and kills them without harming other cells. Lorvotuzumab mertansine is an antibody-drug conjugate being studied for the treatment of rhabdomyosarcoma, malignant peripheral nerve sheath tumor, and synovial sarcoma. See Drugs Approved for Soft Tissue Sarcoma for more information. Immunotherapy Immunotherapy is a treatment that uses the patients immune system to fight disease. Substances made by the body or made in a laboratory are used to boost, direct, or restore the bodys natural defenses against disease. Interferon is a type of immunotherapy used to treat epithelioid hemangioendothelioma. It interferes with the division of tumor cells and can slow tumor growth. Follow-up tests may be needed. Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your child's condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups. Treatment Options for Childhood Soft Tissue Sarcoma Newly Diagnosed Childhood Soft Tissue Sarcoma Fat Tissue Tumors Liposarcoma Treatment of liposarcoma may include the following: - Surgery to completely remove the tumor. If the cancer is not completely removed, a second surgery may be done. - Chemotherapy to shrink the tumor, followed by surgery. - Radiation therapy before or after surgery. - A clinical trial of targeted therapy, radiation therapy, and surgery with or without chemotherapy. Bone and Cartilage Tumors Extraskeletal mesenchymal chondrosarcoma Treatment of extraskeletal mesenchymal chondrosarcoma may include the following: - Surgery to completely remove the tumor. Radiation therapy may be given before and/or after surgery. - Chemotherapy followed by surgery. Chemotherapy with or without radiation therapy is given after surgery. - A clinical trial of targeted therapy, radiation therapy, and surgery with or without chemotherapy. Extraskeletal osteosarcoma Treatment of extraskeletal osteosarcoma may include the following: - Surgery to completely remove the tumor, followed by chemotherapy. - A clinical trial of targeted therapy, radiation therapy, and surgery with or without chemotherapy. See the PDQ summary on Osteosarcoma and Malignant Fibrous Histiocytoma of Bone Treatment for more information. Fibrous (Connective) Tissue Tumors Desmoid-type fibromatosis Treatment of desmoid-type fibromatosis may include the following: - Surgery to completely remove the tumor. Treatment before surgery may include the following: - Observation. - Chemotherapy. - Radiation therapy. - Antiestrogen drug therapy. - Nonsteroidal anti-inflammatory drug (NSAID) therapy. If the tumor is not completely removed by surgery, treatment may include the following: - Observation, if other treatment options are not possible. - Radiation therapy. - Radiation therapy or chemotherapy for tumors that cannot be removed by surgery. - A clinical trial of targeted therapy. - A clinical trial of targeted therapy, radiation therapy, and surgery with or without chemotherapy. Treatment of desmoid-type fibromatosis that has come back may include the following: - Observation and possibly surgery at a later time. - Chemotherapy. Dermatofibrosarcoma protuberans Treatment of dermatofibrosarcoma protuberans may include the following: - Surgery to completely remove the tumor when possible. This may include Mohs surgery. - Radiation therapy before or after surgery. - Targeted therapy (imatinib) if the tumor cannot be removed or has come back. - A clinical trial of targeted therapy, radiation therapy, and surgery with or without chemotherapy. Fibrosarcoma Infantile fibrosarcoma Treatment of infantile fibrosarcoma may include the following: - Surgery to remove the tumor when possible, followed by observation. - Surgery followed by chemotherapy. - Chemotherapy to shrink the tumor, followed by surgery. - A clinical trial of targeted therapy, radiation therapy, and surgery with or without chemotherapy. - A clinical trial of targeted therapy (tyrosine kinase inhibitor). Adult-type fibrosarcoma Treatment of adult-type fibrosarcoma may include the following: - Surgery to completely remove the tumor when possible. Inflammatory myofibroblastic tumor Treatment of inflammatory myofibroblastic tumor may include the following: - Surgery to completely remove the tumor when possible. - Chemotherapy. - Steroid therapy. - Nonsteroidal anti-inflammatory drug (NSAID) therapy. - Targeted therapy (ALK inhibitors). - A clinical trial of targeted therapy, radiation therapy, and surgery with or without chemotherapy. Low-grade fibromyxoid sarcoma Treatment of low-grade fibromyxoid sarcoma may include the following: - Surgery to completely remove the tumor. - A clinical trial of targeted therapy, radiation therapy, and surgery with or without chemotherapy. Myxofibrosarcoma Treatment of myxofibrosarcoma may include the following: - Surgery to completely remove the tumor. - A clinical trial of targeted therapy, radiation therapy, and surgery with or without chemotherapy. Sclerosing epithelioid fibrosarcoma Treatment of sclerosing epithelioid fibrosarcoma may include the following: - Surgery to completely remove the tumor. - A clinical trial of targeted therapy, radiation therapy, and surgery with or without chemotherapy. Skeletal Muscle Tumors Rhabdomyosarcoma See the PDQ summary on Childhood Rhabdomyosarcoma Treatment. Smooth Muscle Tumors Leiomyosarcoma Treatment of leiomyosarcoma may include the following: - Chemotherapy. - A clinical trial of targeted therapy, radiation therapy, and surgery with or without chemotherapy. So-called Fibrohistiocytic Tumors Plexiform fibrohistiocytic tumor Treatment of plexiform fibrohistiocytic tumor may include the following: - Surgery to completely remove the tumor. - A clinical trial of targeted therapy, radiation therapy, and surgery with or without chemotherapy. Peripheral Nervous System Tumors Ectomesenchymoma Treatment of ectomesenchymoma may include the following: - Surgery and chemotherapy. - Radiation therapy. Malignant peripheral nerve sheath tumor Treatment of malignant peripheral nerve sheath tumor may include the following: - Surgery to completely remove the tumor when possible. - Radiation therapy before or after surgery. - Chemotherapy, for tumors that cannot be removed by surgery. - A clinical trial of targeted therapy, radiation therapy, and surgery with or without chemotherapy. - A clinical trial of targeted therapy, for tumors that cannot be removed by surgery. - A clinical trial of targeted therapy (histone methyltransferase inhibitor). - A clinical trial of an antibody-drug conjugate. It is not clear whether giving radiation therapy or chemotherapy after surgery improves the tumor's response to treatment. Malignant triton tumor Malignant triton tumors may be treated the same as rhabdomyosarcomas and include surgery, chemotherapy, or radiation therapy. A regimen of targeted therapy, radiation therapy, and surgery with or without chemotherapy is being studied. Pericytic (Perivascular) Tumors Infantile hemangiopericytoma Treatment of infantile hemangiopericytoma may include the following: - Chemotherapy. Infantile myofibromatosis Treatment of infantile myofibromatosis may include the following: - Combination chemotherapy. Tumors of Unknown Origin (the place where the tumor first formed is not known) Alveolar soft part sarcoma Treatment of alveolar soft part sarcoma may include the following: - Surgery to completely remove the tumor when possible. - Radiation therapy before or after surgery, if the tumor cannot be completely removed by surgery. - Targeted therapy (angiogenesis inhibitor). - A clinical trial of targeted therapy (angiogenesis inhibitor) for children. - A clinical trial of targeted therapy, radiation therapy, and surgery with or without chemotherapy. Clear cell sarcoma of soft tissue Treatment of clear cell sarcoma of soft tissue may include the following: - Surgery to remove the tumor when possible. - Radiation therapy before or after surgery. - A clinical trial of targeted therapy, radiation therapy, and surgery with or without chemotherapy. Desmoplastic small round cell tumor There is no standard treatment for desmoplastic small round cell tumor. Treatment may include the following: - Surgery to completely remove the tumor when possible. - Chemotherapy followed by surgery. - Radiation therapy. Epithelioid sarcoma Treatment of epithelioid sarcoma may include the following: - Surgery to remove the tumor when possible. - Chemotherapy before or after surgery. - Radiation therapy before or after surgery. - A clinical trial of targeted therapy (histone methyltransferase inhibitor). Extrarenal (extracranial) rhabdoid tumor Treatment of extrarenal (extracranial) rhabdoid tumor may include the following: - A combination of surgery to remove the tumor when possible, chemotherapy, and radiation therapy. - A clinical trial of targeted therapy (histone methyltransferase inhibitor). Extraskeletal myxoid chondrosarcoma Treatment of extraskeletal myxoid chondrosarcoma may include the following: - Surgery to remove the tumor when possible. - Radiation therapy. - A clinical trial of targeted therapy, radiation therapy, and surgery with or without chemotherapy. - A clinical trial of targeted therapy (histone methyltransferase inhibitor). Perivascular epithelioid cell tumors (PEComas) Treatment of perivascular epithelioid cell tumors may include the following: - Surgery to remove the tumor. - Observation followed by surgery. - Targeted therapy (mTOR inhibitor), for tumors that have certain gene changes and cannot be removed by surgery. - A clinical trial of targeted therapy, radiation therapy, and surgery with or without chemotherapy. Primitive neuroectodermal tumor (PNET)/extraskeletal Ewing tumor See the PDQ summary on Ewing Sarcoma Treatment. Synovial sarcoma Treatment of synovial sarcoma may include the following: - Chemotherapy. - Surgery. Radiation therapy and/or chemotherapy may be given before or after surgery. - A clinical trial of gene therapy. - A clinical trial of targeted therapy, radiation therapy, and surgery with or without chemotherapy. - A clinical trial of targeted therapy (histone methyltransferase inhibitor). - A clinical trial of an antibody-drug conjugate. Undifferentiated/unclassified sarcoma These tumors include undifferentiated pleomorphic sarcoma /malignant fibrous histiocytoma (high-grade). There is no standard treatment for these tumors. Treatment may include the following: - A clinical trial of targeted therapy, radiation therapy, and surgery with or without chemotherapy. See the PDQ summary on Osteosarcoma and Malignant Fibrous Histiocytoma of Bone Treatment for information about the treatment of malignant fibrous histiocytoma of bone. Blood Vessel Tumors Angiosarcoma of soft tissue Treatment of angiosarcoma may include the following: - Surgery to completely remove the tumor. - A combination of surgery, chemotherapy, and radiation therapy for angiosarcomas that have spread. - Targeted therapy (bevacizumab) and chemotherapy for angiosarcomas that began as infantile hemangiomas. - A clinical trial of targeted therapy, radiation therapy, and surgery with or without chemotherapy. Epithelioid hemangioendothelioma Treatment of epithelioid hemangioendothelioma may include the following: - Surgery to remove the tumor when possible. - Immunotherapy (interferon) and targeted therapy (thalidomide, sorafenib, pazopanib, sirolimus) for tumors that are likely to spread. - Chemotherapy. - Total hepatectomy and liver transplant when the tumor is in the liver. Metastatic Childhood Soft Tissue Sarcoma Treatment of childhood soft tissue sarcoma that has spread to other parts of the body at diagnosis may include the following: - Chemotherapy and radiation therapy. Surgery may be done to remove tumors that have spread to the lung. - Stereotactic body radiation therapy for tumors that have spread to the lung. For treatment of specific tumor types, see the Treatment Options for Childhood Soft Tissue Sarcoma section. Check the list of NCI-supported cancer clinical trials that are now accepting patients with nonmetastatic childhood soft tissue sarcoma and metastatic childhood soft tissue sarcoma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your child's doctor about clinical trials that may be right for your child. General information about clinical trials is available from the NCI website. Recurrent and Progressive Childhood Soft Tissue Sarcoma Treatment of recurrent or progressive childhood soft tissue sarcoma may include the following: - Surgery to remove cancer that has come back where it first formed or that has spread to the lung. - Surgery followed by external or internal radiation therapy, if radiation therapy has not already been given. - Surgery to remove the arm or leg with cancer, if radiation therapy was already given. - Chemotherapy. - Targeted therapy (tyrosine kinase inhibitor). - A clinical trial of a new chemotherapy regimen. Check the list of NCI-supported cancer clinical trials that are now accepting patients with recurrent childhood soft tissue sarcoma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your child's doctor about clinical trials that may be right for your child. General information about clinical trials is available from the NCI website.
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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 "nondisjunction." When the egg with 2 copies of chromosome 21 unites with a normal sperm with one copy of chromosome 21 to form an embryo, the resulting embryo has 3 copies of chromosome 21 instead of the normal two. The extra chromosome is then copied in every cell of the baby's body, causing the features of Down syndrome. The cause of nondisjunction is unknown, but research has shown that it happens more often as women age. Nondisjunction is not known to be caused by anything in the environment or anything that parents do (or don't do) before or during pregnancy. Mosaic trisomy 21. In about 1-2% of cases, only some of the cells in a person's body have an extra chromosome 21; this is called "mosaic trisomy 21". In this situation, the fertilized egg may have the right number of chromosomes, but due to a cell division error early in the development of the embryo, some cells "acquire" an extra chromosome 21. A person with mosaic trisomy 21 typically has 46 chromosomes in some cells, and 47 chromosomes (with the extra chromosome 21) in others. The features and severity in people with mosaic trisomy 21 may vary widely. Translocation trisomy 21. About 3-4% of people with Down syndrome have cells that contain 46 chromosomes; however, there is extra chromosome 21 material attached (translocated ) onto another chromosome. For parents of a child with Down syndrome due to a translocation, there may be an increased chance of Down syndrome in future pregnancies. This is because one of the two parents may be a carrier of a balanced translocation. However, not all parents of people with translocation trisomy 21 have a translocation. Regardless of the type of Down syndrome a person has, all people with Down syndrome have an extra, critical portion of chromosome 21 present in all or some of their cells. This extra genetic material disrupts the normal course of development, causing the characteristic features of Down syndrome.
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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 experience a failure to grow at the expected rate and have unusually short stature. This condition is usually apparent by early childhood. There are four types of isolated growth hormone deficiency differentiated by the severity of the condition, the gene involved, and the inheritance pattern. Isolated growth hormone deficiency type IA is caused by an absence of growth hormone and is the most severe of all the types. In people with type IA, growth failure is evident in infancy as affected babies are shorter than normal at birth. People with isolated growth hormone deficiency type IB produce very low levels of growth hormone. As a result, type IB is characterized by short stature, but this growth failure is typically not as severe as in type IA. Growth failure in people with type IB is usually apparent in early to mid-childhood. Individuals with isolated growth hormone deficiency type II have very low levels of growth hormone and short stature that varies in severity. Growth failure in these individuals is usually evident in early to mid-childhood. It is estimated that nearly half of the individuals with type II have underdevelopment of the pituitary gland (pituitary hypoplasia). The pituitary gland is located at the base of the brain and produces many hormones, including growth hormone. Isolated growth hormone deficiency type III is similar to type II in that affected individuals have very low levels of growth hormone and short stature that varies in severity. Growth failure in type III is usually evident in early to mid-childhood. People with type III may also have a weakened immune system and are prone to frequent infections. They produce very few B cells, which are specialized white blood cells that help protect the body against infection (agammaglobulinemia).
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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 Hearing loss Pogressive ataxia (uncoordinated movement) often with onset in Pyramidal signs (which shows there is a problem with the nervous system) Muscle wasting of the lower limbs Torus palatinus (a hard bony growth in the roof of the mouth) Brain calcification (mineral deposits in the brain) Sparse hair Unique facial features (e.g., deep-set eyes, protruding lower jaw, droopy eyelids) Schizophrenia and a germ cell tumor was also reported in isolated cases. The Human Phenotype Ontology provides the following list of signs and symptoms for Primrose syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal form of the vertebral bodies 90% Abnormality of the hip bone 90% Abnormality of the palate 90% Anemia 90% Bone cyst 90% Calcification of the auricular cartilage 90% Cataract 90% Cognitive impairment 90% Conductive hearing impairment 90% Developmental regression 90% Gait disturbance 90% Hydrocephalus 90% Kyphosis 90% Macrotia 90% Myopathy 90% Osteolysis 90% Scoliosis 90% Abnormality of the testis 50% Anonychia 50% Gynecomastia 50% Malar flattening 50% Narrow chest 50% Pectus excavatum 50% Plagiocephaly 50% Seizures 50% Short stature 50% Synophrys 50% Aggressive behavior 5% Autism 5% Bilateral cryptorchidism 5% Cerebral calcification 5% Self-injurious behavior 5% Absent axillary hair - Absent facial hair - Basilar impression - Brachycephaly - Broad forehead - Deeply set eye - Distal amyotrophy - Generalized osteoporosis - Genu valgum - Hearing impairment - Hip contracture - Hypoplasia of midface - Hypoplasia of the corpus callosum - Hypoplasia of the maxilla - Intellectual disability - Irregular vertebral endplates - Knee flexion contracture - Macrocephaly - Muscular hypotonia - Narrow iliac wings - Neurodegeneration - Pes cavus - Posterior polar cataract - Posterior scalloping of vertebral bodies - Ptosis - Short distal phalanx of finger - Sporadic - Superiorly displaced ears - Thick lower lip vermilion - Truncal obesity - 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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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. Early prostate cancer usually does not cause pain, and most affected men exhibit no noticeable symptoms. Men are often diagnosed as the result of health screenings, such as a blood test for a substance called prostate specific antigen (PSA) or a medical procedure called a digital rectal exam. As the tumor grows larger, signs and symptoms can include difficulty starting or stopping the flow of urine, a feeling of not being able to empty the bladder completely, blood in the urine or semen, or pain with ejaculation. However, these changes can also occur with many other genitourinary conditions. Having one or more of these symptoms does not necessarily mean that a man has prostate cancer. The severity and outcome of prostate cancer varies widely. Early-stage prostate cancer can usually be treated successfully, and some older men have prostate tumors that grow so slowly that they may never cause health problems during their lifetime, even without treatment. In other men, however, the cancer is much more aggressive; in these cases, prostate cancer can be life-threatening. Some cancerous tumors can invade surrounding tissue and spread to other parts of the body. Tumors that begin at one site and then spread to other areas of the body are called metastatic cancers. The signs and symptoms of metastatic cancer depend on where the disease has spread. If prostate cancer spreads, cancerous cells most often appear in the lymph nodes, bones, lungs, liver, or brain. Bone metastases of prostate cancer most often cause pain in the lower back, pelvis, or hips. A small percentage of all prostate cancers cluster in families. These hereditary cancers are associated with inherited gene mutations. Hereditary prostate cancers tend to develop earlier in life than non-inherited (sporadic) cases.
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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 this and become active again. Conditions that weaken the immune system can also put people at risk for shingles. Shingles is especially dangerous for anyone who has had cancer, radiation treatments for cancer, HIV/AIDS, or a transplant operation. Our immune system gradually loses strength as we mature. After people reach 50, the body is not able to fight off infections as easily as it once did.
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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 develops when the body does not get the right amount of vitamins, minerals, and nutrients it needs to maintain healthy tissues and organ function. Loose stools contain more fluid and electrolytes than solid stools. These problems can be severe and can be life threatening without proper treatment. Other signs and symptoms may include - bloating - cramping - fatigue, or feeling tired - foul-smelling stool - heartburn - too much gas - vomiting - weakness People with short bowel syndrome are also more likely to develop food allergies and sensitivities, such as lactose intolerance. Lactose intolerance is a condition in which people have digestive symptomssuch as bloating, diarrhea, and gasafter eating or drinking milk or milk products. More information is provided in the NIDDK health topic, Lactose Intolerance.
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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 autosomal dominant fashion.
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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 use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Gait imbalance - Slow progression - Vertigo - 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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