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What are the symptoms of Hashimoto's Disease ?
|
Many people with Hashimotos disease have no symptoms at first. As the disease slowly progresses, the thyroid usually enlarges and may cause the front of the neck to look swollen. The enlarged thyroid, called a goiter, may create a feeling of fullness in the throat, though it is usually not painful. After many years, or even decades, damage to the thyroid causes it to shrink and the goiter to disappear.
Not everyone with Hashimotos disease develops hypothyroidism. For those who do, the hypothyroidism may be subclinicalmild and without symptoms, especially early in its course. With progression to hypothyroidism, people may have one or more of the following symptoms:
- fatigue - weight gain - cold intolerance - joint and muscle pain - constipation, or fewer than three bowel movements a week - dry, thinning hair - heavy or irregular menstrual periods and problems becoming pregnant - depression - memory problems - a slowed heart rate
|
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What are the treatments for Fraser syndrome ?
|
These resources address the diagnosis or management of Fraser syndrome: - Genetic Testing Registry: Cryptophthalmos syndrome - University of Arizona College of Medicine: Cryptophthalmos 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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Is limb-girdle muscular dystrophy inherited ?
|
Limb-girdle muscular dystrophy can have different inheritance patterns. Most forms of this condition are 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. Several rare forms of limb-girdle muscular dystrophy are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
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What is (are) Whooping Cough ?
|
Whooping cough is an infectious bacterial disease that causes uncontrollable coughing. The name comes from the noise you make when you take a breath after you cough. You may have choking spells or may cough so hard that you vomit. Anyone can get whooping cough, but it is more common in infants and children. It's especially dangerous for infants. The coughing spells can be so bad that it is hard for infants to eat, drink, or breathe. To make a diagnosis, your doctor may do a physical exam, blood tests, chest x-rays, or nose or throat cultures. Before there was a vaccine, whooping cough was one of the most common childhood diseases and a major cause of childhood deaths in the U.S. Now most cases are prevented by vaccines. If you have whooping cough, treatment with antibiotics may help if given early. Centers for Disease Control and Prevention
|
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What is (are) Hemifacial myohyperplasia ?
|
Hemifacial myohyperplasia (HMH) is a developmental disorder that frequently affects the right side of the face and is commonly seen in males. On the affected side of the face, there are usually enlarged tissues that lead to an abnormal jaw shape. Other features associated with HMH include enlargement of the brain, epilepsy, strabismus, genitourinary system disorders, intellectual disability, and dilation of the pupil on the affected side . Asymmetry of the face is more noticeable with age and remains until the end of adolescence when the asymmetry stabilizes. The cause of HMH is unknown; but theories suggest an imbalance in the endocrine system, neuronal abnormalities, chromosomal abnormalities, random events in twinning and fetal development, and vascular or lymphatic abnormalities.
|
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Do you have information about Weight Control
|
Summary : Keeping a healthy weight is crucial. If you are underweight, overweight, or obese, you may have a higher risk of certain health problems. About two thirds of adults in the U.S. are overweight or obese. Achieving a healthy weight can help you control your cholesterol, blood pressure and blood sugar. It might also help you prevent weight-related diseases, such as heart disease, diabetes, arthritis and some cancers. Eating too much or not being physically active enough will make you overweight. To maintain your weight, the calories you eat must equal the energy you burn. To lose weight, you must use more calories than you eat. A weight-control strategy might include - Choosing low-fat, low-calorie foods - Eating smaller portions - Drinking water instead of sugary drinks - Being physically active Eating extra calories within a well-balanced diet can help to add weight. NIH: National Institute of Diabetes and Digestive and Kidney Diseases
|
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What are the treatments for Childhood Extracranial Germ Cell Tumors ?
|
Key Points
- There are different types of treatment for children with extracranial germ cell tumors. - Children with extracranial germ cell tumors should have their treatment planned by a team of health care providers who are experts in treating cancer in children. - Some cancer treatments cause side effects months or years after treatment has ended. - Three types of standard treatment are used: - Surgery - Observation - Chemotherapy - New types of treatment are being tested in clinical trials. - High-dose chemotherapy with stem cell transplant - Radiation 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 children with extracranial germ cell tumors.
Different types of treatments are available for children with extracranial germ cell tumors. 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 extracranial germ cell tumors 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 extracranial germ cell tumors and who specialize in certain areas of medicine. These may include the following specialists: - Pediatrician. - Pediatric surgeon. - Pediatric hematologist. - Radiation oncologist. - Endocrinologist. - Pediatric nurse specialist. - Rehabilitation specialist. - Child life professional. - Psychologist. - Social worker. - Geneticist.
Some cancer treatments cause side effects months or years after treatment has ended.
Side effects from cancer treatment that begin during or after treatment and continue for months or years are called late effects. Late effects of cancer treatment may include the following: - Physical problems. - Changes in mood, feelings, thinking, learning, or memory. - Second cancers (new types of cancer). For example, late effects of surgery to remove tumors in the sacrum or coccyx include constipation, loss of bowel and bladder control, and scars. 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).
Three types of standard treatment are used:
Surgery Surgery to completely remove the tumor is done whenever possible. If the tumor is very large, chemotherapy may be given first, to make the tumor smaller and decrease the amount of tissue that needs to be removed during surgery. A goal of surgery is to keep reproductive function. The following types of surgery may be used: - Resection: Surgery to remove tissue or part or all of an organ. - Radical inguinal orchiectomy: Surgery to remove one or both testicles through an incision (cut) in the groin. - Unilateral salpingo-oophorectomy: Surgery to remove one ovary and one fallopian tube on the same side. Even if the doctor removes all the cancer that can be seen at the time of the surgery, some patients may be given 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. Observation Observation is closely monitoring a patients condition without giving any treatment until signs or symptoms appear or change. For childhood extracranial germ cell tumors, this includes physical exams, imaging tests, and tumor marker tests. 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 treatment using more than one anticancer drug. The way the chemotherapy is given depends on the type and stage of the cancer being treated.
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. High-dose chemotherapy with stem cell transplant High-dose chemotherapy with stem cell transplant 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 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 body's blood cells. Radiation therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy: - External radiation therapy uses a machine outside the body to send radiation toward the cancer. - Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. The way the radiation therapy is given depends on the type of cancer and whether it has come back. External radiation therapy is being studied for the treatment of childhood extracranial germ cell tumors that have come back.
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 child's condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups. For childhood extracranial germ cell tumors, alpha-fetoprotein (AFP) tests and beta-human chorionic gonadotropin (-hCG) tests are done to see if treatment is working. Continued high levels of AFP or -hCG may mean the cancer is still growing. For at least 3 years after surgery, follow-up will include regular physical exams, imaging tests, and tumor marker tests.
Treatment Options for Childhood Extracranial Germ Cell Tumors
Mature and Immature Teratomas
Treatment of mature teratomas that are not in the sacrum or coccyx (bottom part of the spine) includes the following: - Surgery to remove the tumor followed by observation. Treatment of immature teratomas that are not in the sacrum or coccyx includes the following: - Surgery to remove the tumor followed by observation for stage I tumors. - Surgery to remove the tumor for stage IIIV tumors. Treatment of immature teratomas that are in the sacrum or coccyx includes the following: - Surgery (removal of the sacrum and coccyx) followed by observation. Sometimes a mature or immature teratoma also has malignant cells. The teratoma and malignant cells may need to be treated differently. Regular follow-up exams with imaging tests and the alpha-fetoprotein (AFP) tumor marker test will be done for at least 3 years. Check the list of NCI-supported cancer clinical trials that are now accepting patients with childhood teratoma. 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.
Malignant Gonadal Germ Cell Tumors
Malignant Testicular Germ Cell Tumors Treatment of malignant testicular germ cell tumors may include the following: For boys younger than 15 years: - Surgery (radical inguinal orchiectomy) followed by observation for stage I tumors. - Surgery (radical inguinal orchiectomy) followed by combination chemotherapy for stage II-IV tumors. A second surgery may be done to remove any tumor remaining after chemotherapy. For boys 15 years and older: Malignant testicular germ cell tumors in boys 15 years and older are treated differently than they are in young boys. Surgery may include removal of lymph nodes in the abdomen. (See the PDQ summary on Testicular Cancer Treatment for more information.) Check the list of NCI-supported cancer clinical trials that are now accepting patients with childhood malignant testicular germ cell tumor. 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. Malignant Ovarian Germ Cell Tumors Dysgerminomas Treatment of stage I dysgerminomas in young girls may include the following: - Surgery (unilateral salpingo-oophorectomy) followed by observation. Combination chemotherapy may be given if the tumor comes back. Treatment of stages IIIV dysgerminomas in young girls may include the following: - Surgery (unilateral salpingo-oophorectomy) followed by combination chemotherapy. - Combination chemotherapy to shrink the tumor, followed by surgery (unilateral salpingo-oophorectomy). Nongerminomas Treatment of stage I nongerminomas in young girls may include the following: - Surgery followed by observation. - Surgery followed by combination chemotherapy. Treatment of stages IIIV nongerminomas in young girls may include the following: - Surgery followed by combination chemotherapy. A second surgery may be done to remove any remaining cancer. - Biopsy followed by combination chemotherapy to shrink the tumor and sometimes surgery for tumors that cannot be removed by surgery when cancer is diagnosed. The treatment for adolescents and young adults with ovarian germ cell tumor is much like the treatment for adults. (See the PDQ treatment summary on Ovarian Germ Cell Tumors for more information.) Check the list of NCI-supported cancer clinical trials that are now accepting patients with childhood malignant ovarian germ cell tumor. 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.
Malignant Extragonadal Extracranial Germ Cell Tumors
Treatment of childhood malignant extragonadal extracranial germ cell tumors may include the following: - Combination chemotherapy to shrink the tumor followed by surgery to remove the sacrum and coccyx (bottom part of the spine) for tumors that are in the sacrum or coccyx. - Combination chemotherapy to shrink the tumor followed by surgery to remove tumors that are in the mediastinum. - Biopsy followed by combination chemotherapy to shrink the tumor and surgery to remove tumors that are in the abdomen. - Surgery to remove the tumor followed by combination chemotherapy for tumors of the head and neck. Treatment of malignant extragonadal extracranial germ cell tumors in places not already described includes the following: - Surgery followed by combination chemotherapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with childhood extragonadal germ cell tumor. 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 Childhood Malignant Extracranial Germ Cell Tumors
There is no standard treatment for recurrent childhood malignant extracranial germ cell tumors. Treatment depends on the following: - The type of treatment given when the cancer was diagnosed. - How the tumor responded to the initial treatment. Treatment is usually within a clinical trial and may include the following: - Surgery. - Surgery followed by combination chemotherapy, for most malignant extracranial germ cell tumors including immature teratomas, malignant testicular germ cell tumors, and malignant ovarian germ cell tumors. - Surgery for tumors that come back in the sacrum or coccyx (bottom part of the spine), if surgery to remove the sacrum and coccyx was not done when the cancer was diagnosed. Chemotherapy may be given before surgery, to shrink the tumor. If any tumor remains after surgery, radiation therapy may also be given. - Combination chemotherapy for stage I malignant testicular germ cell tumors and stage I ovarian dysgerminomas. - High-dose chemotherapy and stem cell transplant. - Radiation therapy followed by surgery to remove the tumor in the brain for cancer that has spread to the brain. - A clinical trial of combination chemotherapy alone compared with high-dose chemotherapy followed by stem cell transplant. Check the list of NCI-supported cancer clinical trials that are now accepting patients with recurrent childhood malignant germ cell tumor. 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 are the treatments for 6q24-related transient neonatal diabetes mellitus ?
|
These resources address the diagnosis or management of 6q24-related transient neonatal diabetes mellitus: - Gene Review: Gene Review: Diabetes Mellitus, 6q24-Related Transient Neonatal - Genetic Testing Registry: Transient neonatal diabetes mellitus 1 - The Merck Manual for Healthcare Professionals - University of Chicago Kovler Diabetes Center These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
|
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What are the treatments for campomelic dysplasia ?
|
These resources address the diagnosis or management of campomelic dysplasia: - European Skeletal Dysplasia Network - Gene Review: Gene Review: Campomelic Dysplasia - Genetic Testing Registry: Camptomelic dysplasia - MedlinePlus Encyclopedia: Ambiguous Genitalia - MedlinePlus Encyclopedia: Pierre-Robin Syndrome - The Hospital for Sick Children 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) Cerebellar Hypoplasia ?
|
Cerebellar hypoplasia is a neurological condition in which the cerebellum is smaller than usual or not completely developed. Cerebellar hypoplasia is a feature of a number of congenital (present at birth) malformation syndromes, such as Walker-Warburg syndrome (a form of muscular dystrophy. It is also associated with several inherited metabolic disorders, such as Williams syndrome, and some of the neurodegenerative disorders that begin in early childhood, such as ataxia telangiectasia. In an infant or young child, symptoms of a disorder that features cerebellar hypoplasia might include floppy muscle tone, developmental or speech delay, problems with walking and balance, seizures, intellectual disability, and involuntary side to side movements of the eyes. In an older child, symptoms might include headache, dizzy spells, clumsiness, and hearing impairment.
|
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What to do for What I need to know about Lactose Intolerance ?
|
Talk with your doctor about your dietary plan. A dietary plan can help you manage the symptoms of lactose intolerance and get enough nutrients. If you have a child with lactose intolerance, follow the diet plan that your childs doctor recommends.
Milk and milk products. You may be able to have milk and milk products without symptoms if you
- drink small amounts of milkhalf a cup or lessat a time - drink small amounts of milk with meals, such as having milk with cereal or having cheese with crackers - add small amounts of milk and milk products to your diet a little at a time and see how you feel - eat milk products that are easier for people with lactose intolerance to break down: - yogurt - hard cheeses such as cheddar and Swiss
Lactose-free and lactose-reduced milk and milk products. You can find lactose-free and lactose-reduced milk and milk products at the grocery store. These products are just as healthy for you as regular milk and milk products.
Lactase products. You can use lactase tablets and drops when you have milk and milk products. The lactase enzyme breaks down the lactose in food. Using lactase tablets or drops can help you prevent symptoms of lactose intolerance. Check with your doctor before using these products. Some people, such as young children and pregnant and breastfeeding women, may not be able to use these products.
Calcium and Vitamin D If you are lactose intolerant, make sure you get enough calcium each day. Milk and milk products are the most common sources of calcium. Other foods that contain calcium include - fish with soft bones, such as canned salmon or sardines - broccoli and other leafy green vegetables - oranges - almonds, Brazil nuts, and dried beans - tofu - products with the label showing added calcium, such as cereals, fruit juices, and soy milk Vitamin D helps the body absorb and use calcium. Be sure to eat foods that contain vitamin D, such as eggs, liver, and certain kinds of fish, such as salmon. Also, being outside in the sunlight helps your body make vitamin D. Some companies add vitamin D to milk and milk products. If you are able to drink small amounts of milk or eat yogurt, choose those that have vitamin D added. Talk with your doctor about how to get enough nutrientsincluding calcium and vitamin Din your diet or your childs diet. Ask if you should also take a supplement to get enough calcium and vitamin D. For safety reasons, talk with your doctor before using dietary supplements or any other nonmainstream medicine together with or in place of the treatment your doctor prescribes. Read more at www.ods.od.nih.gov and www.nccam.nih.gov.
|
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] |
What are the treatments for Gorlin syndrome ?
|
These resources address the diagnosis or management of Gorlin syndrome: - Gene Review: Gene Review: Nevoid Basal Cell Carcinoma Syndrome - Genetic Testing Registry: Gorlin syndrome - MedlinePlus Encyclopedia: Basal Cell Nevus Syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
|
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What is (are) What I need to know about Gas ?
|
Gas is air in the digestive tract. Gas leaves the body when people burp through the mouth or pass gas through the anus*the opening at the end of the digestive tract where stool leaves the body.
Everyone has gas. Burping and passing gas are normal. Many people believe that they burp or pass gas too often and that they have too much gas. Having too much gas is rare.
|
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310,
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] |
What are the treatments for glucose phosphate isomerase deficiency ?
|
These resources address the diagnosis or management of GPI deficiency: - Genetic Testing Registry: Glucosephosphate isomerase deficiency - Genetic Testing Registry: Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency - National Heart, Lung, and Blood Institute: How is Hemolytic Anemia Diagnosed? - National Heart, Lung, and Blood Institute: How is Hemolytic Anemia Treated? 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 Chronic Neutrophilic Leukemia ?
|
Treatment of chronic neutrophilic leukemia may include the following: - Donor bone marrow transplant. - Chemotherapy. - Biologic therapy using interferon alfa. - A clinical trial of a new treatment. Check the list of NCI-supported cancer clinical trials that are now accepting patients with chronic neutrophilic leukemia. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.
|
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What is (are) Friedreich ataxia ?
|
Friedreich ataxia is an inherited condition that affects the nervous system and causes movement problems. People with this condition develop impaired muscle coordination (ataxia) that worsens over time. Other features include the gradual loss of strength and sensation in the arms and legs, muscle stiffness (spasticity), and impaired speech. Many individuals have a form of heart disease called hypertrophic cardiomyopathy. Some develop diabetes, impaired vision, hearing loss, or an abnormal curvature of the spine (scoliosis). Most people with Friedreich ataxia begin to experience the signs and symptoms around puberty. This condition is caused by mutations in the FXN gene and is inherited in an autosomal recessive pattern.
|
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What are the symptoms of Nodular regenerative hyperplasia ?
|
What are the signs and symptoms of Nodular regenerative hyperplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Nodular regenerative hyperplasia. 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) Hepatic failure 90% Hypertension 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 symptoms of Roberts syndrome ?
|
What are the signs and symptoms of Roberts syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Roberts 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 hair quantity 90% Aplasia/Hypoplasia of the radius 90% Aplasia/Hypoplasia of the thumb 90% Bowing of the long bones 90% Clinodactyly of the 5th finger 90% Hypertelorism 90% Hypoplasia of the zygomatic bone 90% Intrauterine growth retardation 90% Microcephaly 90% Short stature 90% Underdeveloped nasal alae 90% Upper limb phocomelia 90% Abnormality of female external genitalia 50% Aplasia/Hypoplasia of the earlobes 50% Brachydactyly syndrome 50% Cataract 50% Cognitive impairment 50% Cryptorchidism 50% Long penis 50% Oral cleft 50% Premature birth 50% Proptosis 50% Radioulnar synostosis 50% Underdeveloped supraorbital ridges 50% Abnormality of the palate 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Blue sclerae 7.5% Craniosynostosis 7.5% Finger syndactyly 7.5% Glaucoma 7.5% Multicystic kidney dysplasia 7.5% Nystagmus 7.5% Patellar aplasia 7.5% Polyhydramnios 7.5% Sandal gap 7.5% Short neck 7.5% Single transverse palmar crease 7.5% Stillbirth 7.5% Synostosis of carpal bones 7.5% Thrombocytopenia 7.5% Abnormality of the metacarpal bones - Absent earlobe - Accessory spleen - Ankle contracture - Atria septal defect - Autosomal recessive inheritance - Bicornuate uterus - Biliary tract abnormality - Brachycephaly - Cafe-au-lait spot - Cleft eyelid - Cleft palate - Cleft upper lip - Clinodactyly - Clitoromegaly - Cranial nerve paralysis - Cystic hygroma - Elbow flexion contracture - Enlarged labia minora - Frontal encephalocele - High palate - Horseshoe kidney - Hydrocephalus - Hypospadias - Intellectual disability - Knee flexion contracture - Low-set ears - Malar flattening - Microphthalmia - Midface capillary hemangioma - Narrow naris - Oligodactyly (hands) - Opacification of the corneal stroma - Patent ductus arteriosus - Phocomelia - Polycystic kidney dysplasia - Posteriorly rotated ears - Postnatal growth retardation - Premature separation of centromeric heterochromatin - Radial deviation of finger - Severe intrauterine growth retardation - Shallow orbits - Sparse hair - Syndactyly - Talipes equinovalgus - Ventricular septal defect - Wide nasal bridge - Wrist flexion contracture - 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) Talipes equinovarus ?
|
Talipes equinovarus is a congenital (present from birth) condition where the foot turns inward and downward. The cause of this condition is not known, although it may be passed down through families in some cases. This condition occurs in about 1 out of every 1,000 births. Treatment may involve moving the foot into the correct position and using a cast to keep it there. This process is done in small increments over a period of time. In severe cases, surgery may be needed.
|
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What are the treatments for Infantile Refsum Disease ?
|
The primary treatment for IRD is to avoid foods that contain phytanic acid, including dairy products; beef and lamb; and fatty fish such as tuna, cod, and haddock. Although this prevents the accumulation of phytanic acid, it does not address the accumulation of very long chain fatty acids, and the deficiency of bile acids and plasmalogens.
|
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Is Primary carnitine deficiency inherited ?
|
How is primary carnitine deficiency inherited? Primary carnitine deficiency is inherited in an autosomal recessive manner. Individuals have two copies of each gene, one of which is inherited from each parent. For an individual to have an autosomal recessive condition, he/she must have a mutation in both copies of the disease-causing gene. The parents of an affected individual, who each likely have one mutated copy, are referred to as carriers. Carriers typically do not have any signs or symptoms of the condition. When two carriers for an autosomal recessive condition have children together, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% risk to not have the condition and not be a carrier.
|
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] |
How to diagnose Salivary Gland Cancer ?
|
Tests that examine the head, neck, and the inside of the mouth are used to detect (find) and diagnose salivary gland cancer. The following procedures may be used: - Physical exam and history : An exam of the body to check general signs of health. The head, neck, mouth, and throat will be checked for signs of disease, such as lumps or anything else that seems unusual. A history of the patient's health habits and past illnesses and treatments will also be taken. - MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body. This procedure is also called nuclear magnetic resonance imaging (NMRI). - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - PET scan (positron emission tomography scan): A procedure to find malignant tumor cells in the body. A small amount of radioactive glucose (sugar) is injected into a vein. The PET scanner rotates around the body and makes a picture of where glucose is being used in the body. Malignant tumor cells show up brighter in the picture because they are more active and take up more glucose than normal cells do. - Endoscopy : A procedure to look at organs and tissues inside the body to check for abnormal areas. For salivary gland cancer, an endoscope is inserted into the mouth to look at the mouth, throat, and larynx. An endoscope is a thin, tube-like instrument with a light and a lens for viewing. - Biopsy : The removal of cells or tissues so they can be viewed under a microscope by a pathologist to check for signs of cancer. - Fine needle aspiration (FNA) biopsy : The removal of tissue or fluid using a thin needle. An FNA is the most common type of biopsy used for salivary gland cancer. - Incisional biopsy : The removal of part of a lump or a sample of tissue that doesnt look normal. - Surgery : If cancer cannot be diagnosed from the sample of tissue removed during an FNA biopsy or an incisional biopsy, the mass may be removed and checked for signs of cancer. Because salivary gland cancer can be hard to diagnose, patients should ask to have the tissue samples checked by a pathologist who has experience in diagnosing salivary gland cancer.
|
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] |
Is Geniospasm inherited ?
|
How is hereditary geniospasm inherited? Hereditary geniospasm is inherited in an autosomal dominant manner. This means that having only one mutated copy of the causative gene in each body cell is sufficient to cause signs and symptoms of the condition. When an individual with an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit the mutated copy of the gene and also be affected. Because there is a 50% chance for each child, it is possible for all of the children of an affected individual to be affected, or likewise, for all of the children to be unaffected.
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How many people are affected by hidradenitis suppurativa ?
|
Hidradenitis suppurativa was once thought to be a rare condition because only the most severe cases were reported. However, recent studies have shown that the condition affects at least 1 in 100 people when milder cases are also considered. For reasons that are unclear, women are about twice as likely as men to develop the condition.
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What is (are) Rett Syndrome ?
|
Rett syndrome is a childhood neurodevelopmental disorder that affects females almost exclusively. The child generally appears to grow and develop normally, before symptoms begin. Loss of muscle tone is usually the first symptom. Other early symptoms may include a slowing of development, problems crawling or walking, and diminished eye contact. As the syndrome progresses, a child will lose purposeful use of her hands and the ability to speak. Compulsive hand movements such as wringing and washing follow the loss of functional use of the hands. The inability to perform motor functions is perhaps the most severely disabling feature of Rett syndrome, interfering with every body movement, including eye gaze and speech.
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What are the treatments for Cardiomyopathy ?
|
People who have cardiomyopathy but no signs or symptoms may not need treatment. Sometimes, dilated cardiomyopathy that comes on suddenly may go away on its own. For other people who have cardiomyopathy, treatment is needed. Treatment depends on the type of cardiomyopathy you have, the severity of your symptoms and complications, and your age and overall health. Treatments may include:
Heart-healthy lifestyle changes
Medicines
Nonsurgical procedure
Surgery and implanted devices
The main goals of treating cardiomyopathy include:
Controlling signs and symptoms so that you can live as normally as possible
Managing any conditions that cause or contribute to the disease
Reducing complications and the risk of sudden cardiac arrest
Stopping the disease from getting worse
Heart-Healthy Lifestyle Changes
Your doctor may suggest lifestyle changes to manage a condition thats causing your cardiomyopathy including:
Heart-healthy eating
Maintaining a healthy weight
Managing stress
Physical activity
Quitting smoking
Heart-Healthy Eating
Your doctor may recommend heart-healthy eating, which should include:
Fat-free or low-fat dairy products, such as fat-free milk
Fish high in omega-3 fatty acids, such as salmon, tuna, and trout, about twice a week
Fruits, such as apples, bananas, oranges, pears, and prunes
Legumes, such as kidney beans, lentils, chickpeas, black-eyed peas, and lima beans
Vegetables, such as broccoli, cabbage, and carrots
Whole grains, such as oatmeal, brown rice, and corn tortillas
When following a heart-healthy diet, you should avoid eating:
A lot of red meat
Palm and coconut oils
Sugary foods and beverages
Two nutrients in your diet make blood cholesterol levels rise:
Saturated fatfound mostly in foods that come from animals
Trans fat (trans fatty acids)found in foods made with hydrogenated oils and fats such as stick margarine;baked goods such as, cookies, cakes, and pies, crackers, frostings, and coffee creamers. Some trans fats also occur naturally in animal fats and meats.
Saturated fat raises your blood cholesterol more than anything else in your diet. When you follow a heart-healthy eating plan, only 5 percent to 6percent of your daily calories should come from saturated fat. Food labels list the amounts of saturated fat. To help you stay on track, here are some examples:
Not all fats are bad. Monounsaturated and polyunsaturated fats actually help lower blood cholesterol levels.
Some sources of monounsaturated and polyunsaturated fats are:
Avocados
Corn, sunflower, and soybean oils
Nuts and seeds, such as walnuts
Olive, canola, peanut, safflower, and sesame oils
Peanut butter
Salmon and trout
Tofu
Sodium
Try to limit the amount of sodium that you eat. This means choosing and preparing foods that are lower in salt and sodium. Try to use low-sodium and no added salt foods and seasonings at the table or while cooking. Food labels tell you what you need to know about choosing foods that are lower in sodium. Try to eat no more than 2,300 milligrams of sodium a day. If you have high blood pressure, you may need to restrict your sodium intake even more.
Dietary Approaches to Stop Hypertension
Your doctor may recommend the Dietary Approaches to Stop Hypertension (DASH) eating plan if you have high blood pressure. The DASH eating plan focuses on fruits, vegetables, whole grains, and other foods that are heart healthy and low in fat, cholesterol, and sodium and salt.
The DASH eating plan is a good heart-healthy eating plan, even for those who dont have high blood pressure. Read more about DASH.
Alcohol
Talk to your doctor about how much alcohol you drink. Too much alcohol canraise your blood pressure and triglyceride levels, a type of fat found in the blood. Alcohol also adds extra calories, which may cause weight gain. Your doctor may recommend that you reduce the amount of alcohol you drinkor stop drinking alcohol.
Maintaining a Healthy Weight
Maintaining a healthy weight is important for overall health and can lower your risk for coronary heart disease. Aim for a Healthy Weight by following a heart-healthy eating plan and keeping physically active.
Knowing your body mass index (BMI) helps you find out if youre a healthy weight in relation to your height and gives an estimate of your total body fat. To figure out your BMI, check out the National Heart, Lung, and Blood Institutes (NHLBI) onlineBMI calculatoror talk to your doctor.A BMI:
Below 18.5 is a sign that you are underweight.
Between 18.5 and 24.9 is in the normal range.
Between 25 and 29.9 is considered overweight.
Of 30 or more is considered obese.
A general goal to aim for is a BMI of less than 25. Your doctor or health care provider can help you set an appropriate BMI goal.
Measuring waist circumference helps screen for possible health risks. If most of your fat is around your waist rather than at your hips, youre at a higher risk for heart disease and type 2 diabetes. This risk may be high with a waist size that is greater than 35 inches for women or greater than 40 inches for men. To learn how to measure your waist, visitAssessing Your Weight and Health Risk.
If youre overweight or obese, try to lose weight. A loss of just 3 percent to 5 percent of your current weight can lower your triglycerides, blood glucose, and the risk of developing type 2 diabetes. Greater amounts of weight loss can improve blood pressure readings, lower LDL cholesterol, and increase HDL cholesterol.
Managing Stress
Research shows that the most commonly reported trigger for a heart attack is an emotionally upsetting eventparticularly one involving anger. Also, some of the ways people cope with stresssuch as drinking, smoking, or overeatingarent healthy.
Learning how to manage stress, relax, and cope with problems can improve your emotional and physical health.Consider healthy stress-reducing activities, such as:
A stress management program
Meditation
Physical activity
Relaxation therapy
Talking things out with friends or family
Physical Activity
Routine physical activity can lower many risk factors for coronary heart disease, including LDL (bad) cholesterol, high blood pressure, and excess weight. Physical activity also can lower your risk for diabetes and raise your HDL cholesterol level. HDL is the good cholesterol that helps prevent coronary heart disease.
Everyone should try to participate in moderate intensity aerobic exercise at least 2hours and 30minutes per week, or vigorous intensity aerobic exercise for 1hour and 15minutes per week. Aerobic exercise, such as brisk walking, is any exercise in which your heart beats fasterand you use more oxygen than usual. The more active you are, the more you will benefit. Participate in aerobic exercise for at least 10 minutes at a time spread throughout the week.
Read more about physical activity at:
Physical Activity and Your Heart
U.S. Department of Health and Human Services 2008 Physical Activity Guidelines forAmericans
Talk with your doctor before you start a new exercise plan. Ask your doctor how much and what kinds of physical activity are safe for you.
Quitting Smoking
If you smoke, quit. Smoking can raise your risk for coronary heart disease and heart attack and worsen other coronary heart disease risk factors. Talk with your doctor about programs and products that can help you quit smoking. Also, try to avoid secondhand smoke.
If you have trouble quitting smoking on your own, consider joining a support group. Many hospitals, workplaces, and community groups offer classes to help people quit smoking.
Read more about quitting smoking at Smoking and Your Heart.
Medicines
Many medicines are used to treat cardiomyopathy. Your doctor may prescribe medicines to:
Balance electrolytes in your body. Electrolytes are minerals that help maintain fluid levels and acid-base balance in the body. They also help muscle and nerve tissues work properly. Abnormal electrolyte levels may be a sign of dehydration (lack of fluid in your body), heart failure, high blood pressure, or other disorders. Aldosterone blockers are an example of a medicine used to balance electrolytes.
Keep your heart beating with a normal rhythm. These medicines, called antiarrhythmics, help prevent arrhythmias.
Lower your blood pressure. ACE inhibitors, angiotensin II receptor blockers, beta blockers, and calcium channel blockers are examples of medicines that lower blood pressure.
Prevent blood clots from forming. Anticoagulants, or blood thinners, are an example of a medicine that prevents blood clots. Blood thinners often are used to prevent blood clots from forming in people who have dilated cardiomyopathy.
Reduce inflammation. Corticosteroids are an example of a medicine used to reduce inflammation.
Remove excess sodium from your body. Diuretics, or water pills, are an example of medicines that help remove excess sodium from the body, which reduces the amount of fluid in your blood.
Slow your heart rate. Beta blockers, calcium channel blockers, and digoxin are examples of medicines that slow the heart rate. Beta blockers and calcium channel blockers also are used to lower blood pressure.
Take all medicines regularly, as your doctor prescribes. Dont change the amount of your medicine or skip a dose unless your doctor tells you to.
Surgery and Implanted Devices
Doctors use several types of surgery to treat cardiomyopathy, including septal myectomy, surgically implanted devices, and heart transplant.
Septal Myectomy
Septal myectomy is open-heart surgery and is used to treat people who have hypertrophic cardiomyopathy and severe symptoms. This surgery generally is used for younger patients and for people whose medicines arent working well.
A surgeon removes part of the thickened septum thats bulging into the left ventricle. This improves blood flow through the heart and out to the body. The removed tissue doesnt grow back. If needed, the surgeon also can repair or replace the mitral valve at the same time. Septal myectomy often is successful and allows you to return to a normal life with nosymptoms.
Surgically Implanted Devices
Surgeons can place several types of devices in the heart to improve function and symptoms, including:
Cardiac resynchronization therapy (CRT) device. A CRT device coordinates contractions between the hearts left and right ventricles.
Implantable cardioverter defibrillator(ICD). An ICD helps control life-threatening arrhythmias that may lead tosudden cardiac arrest. This small device is implanted in the chest or abdomen and connected to the heart with wires. If an ICD senses a dangerous change in heart rhythm, it will send an electric shock to the heart to restore a normal heartbeat.
Left ventricular assist device (LVAD). This device helps the heart pump blood to the body. An LVAD can be used as a long-term therapy or as a short-term treatment for people who are waiting for a heart transplant.
Pacemaker. This small device is placed under the skin of your chest or abdomen to help control arrhythmias. The device uses electrical pulses to prompt the heart to beat at a normal rate.
Heart Transplant
For this surgery, a surgeon replaces a persons diseased heart with a healthy heart from a deceased donor. A heart transplant is a last resort treatment for people who have end-stage heart failure. End-stage means the condition has become so severe that all treatments, other than heart transplant, have failed. For more information about this treatment, go to the Heart Transplant Health Topic.
Nonsurgical Procedure
Doctors may use a nonsurgical procedure called alcohol septal ablation to treat cardiomyopathy. During this procedure, the doctor injects ethanol (a type of alcohol) through a tube into the small artery that supplies blood to the thickened area of heart muscle. The alcohol kills cells, and the thickened tissue shrinks to a more normal size. This procedure allows blood to flow freely through the ventricle, which improves symptoms.
|
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] |
What is (are) Parkinson's Disease ?
|
Parkinson's disease is a brain disorder that leads to shaking, stiffness, and difficulty with walking, balance, and coordination. It currently affects about half a million people in the United States, although the numbers may be much higher. Parkinson's disease is both chronic, meaning it lasts for a long time, and progressive, meaning its symptoms grow worse over time. It is not contagious.
|
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] |
What are the stages of Urethral Cancer ?
|
Key Points
- After urethral cancer has been diagnosed, tests are done to find out if cancer cells have spread within the urethra or to other parts of the body. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. - Urethral cancer is staged and treated based on the part of the urethra that is affected. - Distal urethral cancer - Proximal urethral cancer - Bladder and/or prostate cancer may occur at the same time as urethral cancer.
After urethral cancer has been diagnosed, tests are done to find out if cancer cells have spread within the urethra or to other parts of the body.
The process used to find out if cancer has spread within the urethra or to other parts of the body is called staging. The information gathered from the staging process determines the stage of the disease. It is important to know the stage in order to plan treatment. The following procedures may be used in the staging process: - Chest x-ray : An x-ray of the organs and bones inside the chest. An x-ray is a type of energy beam that can go through the body and onto film, making a picture of areas inside the body. - CT scan (CAT scan) of the pelvis and abdomen : A procedure that makes a series of detailed pictures of the pelvis and abdomen, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of the urethra, nearby lymph nodes, and other soft tissue and bones in the pelvis. A substance called gadolinium is injected into the patient through a vein. The gadolinium collects around the cancer cells so they show up brighter in the picture. This procedure is also called nuclear magnetic resonance imaging (NMRI). - Urethrography: A series of x-rays of the urethra. An x-ray is a type of energy beam that can go through the body and onto film, making a picture of areas inside the body. A dye is injected through the urethra into the bladder. The dye coats the bladder and urethra and x-rays are taken to see if the urethra is blocked and if cancer has spread to nearby tissue.
There are three ways that cancer spreads in the body.
Cancer can spread through tissue, the lymph system, and the blood: - Tissue. The cancer spreads from where it began by growing into nearby areas. - Lymph system. The cancer spreads from where it began by getting into the lymph system. The cancer travels through the lymph vessels to other parts of the body. - Blood. The cancer spreads from where it began by getting into the blood. The cancer travels through the blood vessels to other parts of the body.
Cancer may spread from where it began to other parts of the body.
When cancer spreads to another part of the body, it is called metastasis. Cancer cells break away from where they began (the primary tumor) and travel through the lymph system or blood. - Lymph system. The cancer gets into the lymph system, travels through the lymph vessels, and forms a tumor (metastatic tumor) in another part of the body. - Blood. The cancer gets into the blood, travels through the blood vessels, and forms a tumor (metastatic tumor) in another part of the body. The metastatic tumor is the same type of cancer as the primary tumor. For example, if urethral cancer spreads to the lung, the cancer cells in the lung are actually urethral cancer cells. The disease is metastatic urethral cancer, not lung cancer.
Urethral cancer is staged and treated based on the part of the urethra that is affected.
Urethral cancer is staged and treated based on the part of the urethra that is affected and how deeply the tumor has spread into tissue around the urethra. Urethral cancer can be described as distal or proximal. Distal urethral cancer In distal urethral cancer, the cancer usually has not spread deeply into the tissue. In women, the part of the urethra that is closest to the outside of the body (about inch) is affected. In men, the part of the urethra that is in the penis is affected. Proximal urethral cancer Proximal urethral cancer affects the part of the urethra that is not the distal urethra. In women and men, proximal urethral cancer usually has spread deeply into tissue.
Bladder and/or prostate cancer may occur at the same time as urethral cancer.
In men, cancer that forms in the proximal urethra (the part of the urethra that passes through the prostate to the bladder) may occur at the same time as cancer of the bladder and/or prostate. Sometimes this occurs at diagnosis and sometimes it occurs later.
|
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] |
How to diagnose Laron syndrome ?
|
How is Laron syndrome diagnosed? A diagnosis of Laron syndrome is often suspected based on the presence of characteristic signs and symptoms. Additional testing can then be ordered to confirm the diagnosis and rule out other conditions that cause similar features. This generally includes blood tests to measure the levels of certain hormones that are often abnormal in people with Laron syndrome. For example, affected people may have elevated levels of growth hormone and reduced levels of insulin-like growth factor I. Genetic testing for changes (mutations) in the GHR gene can also be used to confirm a diagnosis in some cases.
|
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] |
Is Multiple endocrine neoplasia type 1 inherited ?
|
How is multiple endocrine neoplasia, type 1 inherited? Multiple endocrine neoplasia, type 1 (MEN1) is inherited in an autosomal dominant manner. This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene. These cases occur in people with no history of the disorder in their family. A person with MEN1 has a 50% chance with each pregnancy of passing along the altered gene to his or her child.
|
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What are the symptoms of Thai symphalangism syndrome ?
|
What are the signs and symptoms of Thai symphalangism syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Thai symphalangism 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) Brachydactyly syndrome - Broad philtrum - Distal symphalangism (hands) - Dolichocephaly - High palate - Hypodontia - Hypoplastic helices - Postaxial foot polydactyly - Postaxial hand polydactyly - Prominent nasal bridge - Proximal symphalangism (hands) - Ptosis - Short finger - Short stature - Short toe - Small earlobe - Sporadic - 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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Who is at risk for Heart Failure? ?
|
Heart failure is more common in - people who are 65 years old or older - African-Americans - people who are overweight - people who have had a heart attack - men. people who are 65 years old or older African-Americans people who are overweight people who have had a heart attack men. Aging can weaken the heart muscle. Older people also may have had diseases for many years that led to heart failure. African Americans are more likely to have heart failure than people of other races. They're also more likely to have symptoms at a younger age, have more hospital visits due to heart failure, and die from heart failure. Excess weight puts strain on the heart. Being overweight also increases your risk of heart disease and type 2 diabetes. These diseases can lead to heart failure. A history of a heart attack puts people at greater risk for heart failure. Men have a higher rate of heart failure than women.
|
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What are the genetic changes related to warfarin sensitivity ?
|
Many genes are involved in the metabolism of warfarin and in determining the drug's effects in the body. Certain common changes (polymorphisms) in the CYP2C9 and VKORC1 genes account for 30 percent of the variation in warfarin metabolism due to genetic factors. Polymorphisms in other genes, some of which have not been identified, have a smaller effect on warfarin metabolism. The CYP2C9 gene provides instructions for making an enzyme that breaks down compounds including steroids and fatty acids. The CYP2C9 enzyme also breaks down certain drugs, including warfarin. Several CYP2C9 gene polymorphisms can decrease the activity of the CYP2C9 enzyme and slow the body's metabolism of warfarin. As a result, the drug remains active in the body for a longer period of time, leading to warfarin sensitivity. The VKORC1 gene provides instructions for making a vitamin K epoxide reductase enzyme. The VKORC1 enzyme helps turn on (activate) clotting proteins in the pathway that forms blood clots. Warfarin prevents (inhibits) the action of VKORC1 and slows the activation of clotting proteins and clot formation. Certain VKORC1 gene polymorphisms decrease the amount of functional VKORC1 enzyme available to help activate clotting proteins. Individuals develop warfarin sensitivity because less warfarin is needed to inhibit the VKORC1 enzyme, as there is less functional enzyme that needs to be suppressed. While changes in specific genes, particularly CYP2C9 and VKORC1, affect how the body reacts to warfarin, many other factors, including gender, age, weight, diet, and other medications, also play a role in the body's interaction with this drug.
|
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What is (are) paramyotonia congenita ?
|
Paramyotonia congenita is a disorder that affects muscles used for movement (skeletal muscles). Beginning in infancy or early childhood, people with this condition experience bouts of sustained muscle tensing (myotonia) that prevent muscles from relaxing normally. Myotonia causes muscle stiffness that typically appears after exercise and can be induced by muscle cooling. This stiffness chiefly affects muscles in the face, neck, arms, and hands, although it can also affect muscles used for breathing and muscles in the lower body. Unlike many other forms of myotonia, the muscle stiffness associated with paramyotonia congenita tends to worsen with repeated movements. Most peopleeven those without muscle diseasefeel that their muscles do not work as well when they are cold. This effect is dramatic in people with paramyotonia congenita. Exposure to cold initially causes muscle stiffness in these individuals, and prolonged cold exposure leads to temporary episodes of mild to severe muscle weakness that may last for several hours at a time. Some older people with paramyotonia congenita develop permanent muscle weakness that can be disabling.
|
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What are the symptoms of Leukoplakia ?
|
What are the early signs of cancer in vulvar leukoplakia? Early signs of cancer may not be apparent. The clinical appearance of leukoplakia does not generally correlate with its appearance when examined under a microscope. For example, the lesion may appear unchanged for a period of time but may actually show changes when looked at under a microscope. Therefore, a biopsy is typically recommended in all cases to determine which lesions are precancerous. Small lesions may be biopsied and just followed periodically if it is shown to remain benign. However, those that show precancerous or cancerous features should be removed.
|
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] |
What is (are) Periventricular heterotopia ?
|
Periventricular heterotopia is a condition in which the nerve cells (neurons) do not migrate properly during the early development of the fetal brain from about the 6th week to the 24th week of pregnancy. Affected people typically develop recurrent seizures (epilepsy) beginning in mid-adolescence. Intelligence is generally normal; however, some affected people may have mild intellectual disability, including difficulty with reading and/or spelling. Less common signs and symptoms include microcephaly, developmental delay, recurrent infections, and blood vessel abnormalities. Some cases are caused by changes (mutations) in the FLNA gene and are inherited in an X-linked dominant manner. Others are caused by mutations in the ARFGEF2 gene and are inherited in an autosomal recessive manner. Rarely, periventricular heterotopia is associated with duplication of genetic material on chromosome 5. Treatment is generally focused on managing recurrent seizures with medications.
|
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What are the symptoms of Primary Familial Brain Calcification ?
|
What are the signs and symptoms of Primary Familial Brain Calcification? The Human Phenotype Ontology provides the following list of signs and symptoms for Primary Familial Brain Calcification. 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 neuronal migration 90% Cerebral calcification 90% Hepatomegaly 90% Intrauterine growth retardation 90% Microcephaly 90% Seizures 90% Subcutaneous hemorrhage 90% Thrombocytopenia 90% Ventriculomegaly 90% Opacification of the corneal stroma 50% Abnormal pyramidal signs 5% Adult onset - Athetosis - Autosomal dominant inheritance - Basal ganglia calcification - Bradykinesia - Calcification of the small brain vessels - Chorea - Dense calcifications in the cerebellar dentate nucleus - Depression - Dysarthria - Dysdiadochokinesis - Dystonia - Gait disturbance - Hyperreflexia - Limb dysmetria - Mask-like facies - Memory impairment - Mental deterioration - Parkinsonism - Postural instability - Progressive - Psychosis - Rigidity - Tremor - Urinary incontinence - 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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] |
Is keratitis-ichthyosis-deafness syndrome inherited ?
|
KID syndrome is usually inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. However, most cases result from new mutations in the gene and occur in people with no history of the disorder in their family. A few families have had a condition resembling KID syndrome with an autosomal recessive pattern of inheritance. In autosomal recessive inheritance, both copies of a 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. Affected individuals in these families have liver disease, which is not a feature of the autosomal dominant form. The autosomal recessive condition is sometimes called Desmons syndrome. It is unknown whether it is also caused by GJB2 gene mutations.
|
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] |
What is (are) What I need to know about Gestational Diabetes ?
|
Your chances of getting gestational diabetes are higher if you
- are overweight - have had gestational diabetes before - have given birth to a baby weighing more than 9 pounds - have a parent, brother, or sister with type 2 diabetes - have prediabetes, meaning your blood glucose levels are higher than normal yet not high enough for a diagnosis of diabetes - are African American, American Indian, Asian American, Hispanic/Latina, or Pacific Islander American - have a hormonal disorder called polycystic ovary syndrome, also known as PCOS
|
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What are the symptoms of Phosphoglycerate kinase deficiency ?
|
What are the signs and symptoms of Phosphoglycerate kinase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Phosphoglycerate kinase 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) Hemolytic anemia 60% Myopathy 45% Renal insufficiency 7.5% Retinal dystrophy 5% Visual loss 5% Ataxia - Delayed speech and language development - Emotional lability - Exercise intolerance - Exercise-induced muscle cramps - Exercise-induced myoglobinuria - Intellectual disability - Migraine - Phenotypic variability - Reticulocytosis - Rhabdomyolysis - Seizures - 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 is (are) Osteopetrosis autosomal recessive 7 ?
|
Osteopetrosis is a bone disease that makes bones abnormally dense and prone to breakage (fracture). Researchers have described several major types of osteopetrosis, which are usually distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or X-linked. The different types of the disorder can also be distinguished by the severity of their signs and symptoms. Mutations in at least nine genes cause the various types of osteopetrosis.
|
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Is X-linked chondrodysplasia punctata 2 inherited ?
|
This condition is inherited in an X-linked dominant pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mutation in one of the two copies of the EBP gene in each cell is sufficient to cause the disorder. Some cells produce a normal amount of 3-hydroxysteroid-8,7-isomerase and other cells produce none. The resulting overall reduction in the amount of this enzyme underlies the signs and symptoms of X-linked chondrodysplasia punctata 2. In males (who have only one X chromosome), a mutation in the EBP gene can result in a total loss of 3-hydroxysteroid-8,7-isomerase. A complete lack of this enzyme is usually lethal in the early stages of development, so few males have been born with X-linked chondrodysplasia punctata 2.
|
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What are the treatments for Chorea ?
|
There is no standard course of treatment for chorea. Treatment depends on the type of chorea and the associated disease. Treatment for Huntington's disease is supportive, while treatment for Syndenham's chorea usually involves antibiotic drugs to treat the infection, followed by drug therapy to prevent recurrence. Adjusting medication dosages can treat drug-induced chorea. Metabolic and endocrine-related choreas are treated according to the cause(s) of symptoms.
|
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What are the treatments for cystic fibrosis ?
|
These resources address the diagnosis or management of cystic fibrosis: - American Society for Reproductive Medicine: Male Infertility - Baby's First Test - Gene Review: Gene Review: CFTR-Related Disorders - Genetic Testing Registry: Cystic fibrosis - Genomics Education Programme (UK) - MedlinePlus Encyclopedia: Cystic Fibrosis 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) factor X deficiency ?
|
Factor X deficiency is a rare bleeding disorder that varies in severity among affected individuals. The signs and symptoms of this condition can begin at any age, although the most severe cases are apparent in childhood. Factor X deficiency commonly causes nosebleeds, easy bruising, bleeding under the skin, bleeding of the gums, blood in the urine (hematuria), and prolonged or excessive bleeding following surgery or trauma. Women with factor X deficiency can have heavy or prolonged menstrual bleeding (menorrhagia) or excessive bleeding in childbirth, and may be at increased risk of pregnancy loss (miscarriage). Bleeding into joint spaces (hemarthrosis) occasionally occurs. Severely affected individuals have an increased risk of bleeding inside the skull (intracranial hemorrhage), in the lungs (pulmonary hemorrhage), or in the gastrointestinal tract, which can be life-threatening.
|
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What is (are) hereditary neuropathy with liability to pressure palsies ?
|
Hereditary neuropathy with liability to pressure palsies is a disorder that affects peripheral nerves. These nerves connect the brain and spinal cord to muscles as well as sensory cells that detect touch, pain, and temperature. In people with this disorder, the peripheral nerves are unusually sensitive to pressure. Hereditary neuropathy with liability to pressure palsies causes recurrent episodes of numbness, tingling, and/or loss of muscle function (palsy). An episode can last from several minutes to several months, but recovery is usually complete. Repeated incidents, however, can cause permanent muscle weakness or loss of sensation. This disorder is also associated with pain in the limbs, especially the hands. A pressure palsy episode results from problems in a single nerve, but any peripheral nerve can be affected. Episodes often recur, but not always at the same site. The most common problem sites involve nerves in wrists, elbows, and knees. Fingers, shoulders, hands, feet, and the scalp can also be affected. Many people with this disorder experience carpal tunnel syndrome when a nerve in the wrist (the median nerve) is involved. Carpal tunnel syndrome is characterized by numbness, tingling, and weakness in the hand and fingers. An episode in the hand may affect fine motor activities such as writing, opening jars, and fastening buttons. An episode in the leg can make walking, climbing stairs, or driving difficult or impossible. Symptoms usually begin during adolescence or early adulthood but may develop anytime from childhood to late adulthood. Symptoms vary in severity; many people never realize they have the disorder, while some people experience prolonged disability. Hereditary neuropathy with liability to pressure palsies does not affect life expectancy.
|
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What is (are) Thrombotic thrombocytopenic purpura, congenital ?
|
Thrombotic thrombocytopenic purpura (TTP), congenital is a blood disorder characterized by low platelets (i.e., thrombocytopenia), small areas of bleeding under the skin (i.e., purpura), low red blood cell count, and hemolytic anemia. TTP causes blood clots (thrombi) to form in small blood vessels throughout the body. These clots can cause serious medical problems if they block vessels and restrict blood flow to organs such as the brain, kidneys, and heart. Resulting complications can include neurological problems (such as personality changes, headaches, confusion, and slurred speech), fever, abnormal kidney function, abdominal pain, and heart problems. Hemolytic anemia can lead to paleness, yellowing of the eyes and skin (jaundice), fatigue, shortness of breath, and a rapid heart rate. TTP, congenital is much rarer than the acquired form and typically appears in infancy or early childhood. Signs and symptoms often recur on a regular basis. TTP, congenital results from mutations in the ADAMTS13 gene. The condition is inherited in an autosomal recessive manner.
|
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What are the symptoms of Down syndrome ?
|
What are the signs and symptoms of Down syndrome? People with Down syndrome may develop the following medical problems: Congenital hypothyroidism Hearing loss Congenital heart defects Seizures Vision disorders Decreased muscle tone (hypotonia) Children with Down syndrome are also more likely to develop chronic respiratory infections, middle ear infections, and recurrent tonsillitis. In addition, there is a higher incidence of pneumonia in children with Down syndrome than in the general population. Children with Down syndrome have developmental delay. They are often slow to turn over, sit, and stand. Developmental delay may be related to the child's weak muscle tone. Development of speech and language may also take longer than expected. Children with Down syndrome may take longer than other children to reach their developmental milestones, but many of these milestones will eventually be met. Adults with Down syndrome have an increased risk of developing Alzheimer disease, a brain disorder that results in a gradual loss of memory, judgment, and ability to function. Although Alzheimer disease is usually a disorder that occurs in older adults, about half of adults with Down syndrome develop this condition by age 50. The Human Phenotype Ontology provides the following list of signs and symptoms for Down 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) Acute megakaryocytic leukemia - Aganglionic megacolon - Anal atresia - Atlantoaxial instability - Brachycephaly - Broad palm - Brushfield spots - Complete atrioventricular canal defect - Conductive hearing impairment - Duodenal stenosis - Epicanthus - Flat face - Hypoplastic iliac wing - Hypothyroidism - Intellectual disability - Joint laxity - Macroglossia - Malar flattening - Microtia - Muscular hypotonia - Myeloproliferative disorder - Protruding tongue - Shallow acetabular fossae - Short middle phalanx of the 5th finger - Short palm - Short stature - Single transverse palmar crease - Sporadic - Thickened nuchal skin fold - Upslanted palpebral fissure - 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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] |
Is Anaplastic astrocytoma inherited ?
|
Are anaplastic astrocytomas inherited? Anaplastic astrocytomas are usually not inherited. These tumors typically occur sporadically, in people with no family history of astrocytomas. In most cases, the exact cause is unknown. Familial cases of isolated astrocytomas have been reported but are very rare. Astrocytomas can have a genetic link when they are associated with a few rare, inherited disorders. These include neurofibromatosis type I, Li-Fraumeni syndrome, Turcot syndrome, and tuberous sclerosis. Astrosytomas occur more frequently in people with one of these disorders. Like many other cancers, it is believed that isolated astrocytomas may occur due to a combination of genetic and environmental factors. This means that a person may carry a gene (or a combination of genes) that predisposes them to developing an astrocytoma, but it may not develop unless it is "triggered" by an environmental factor.
|
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What are the genetic changes related to Behet disease ?
|
The cause of Behet disease is unknown. The condition probably results from a combination of genetic and environmental factors, most of which have not been identified. However, a particular variation in the HLA-B gene has been strongly associated with the risk of developing Behet disease. The HLA-B gene provides instructions for making a protein that plays an important role in the immune system. The HLA-B gene is part of a family of genes called the human leukocyte antigen (HLA) complex. The HLA complex helps the immune system distinguish the body's own proteins from proteins made by foreign invaders (such as viruses and bacteria). The HLA-B gene has many different normal variations, allowing each person's immune system to react to a wide range of foreign proteins. A variation of the HLA-B gene called HLA-B51 increases the risk of developing Behet disease. Although many people with Behet disease have the HLA-B51 variation, most people with this version of the HLA-B gene never develop the disorder. It is unknown how HLA-B51 increases the risk of developing Behet disease. Researchers have considered many other genetic and environmental factors as possible contributors to Behet disease. Studies have examined several genes related to immune system function, although no gene except HLA-B has been definitively associated with an increased risk of Behet disease. It appears likely that environmental factors, such as certain bacterial or viral infections, play a role in triggering the disease in people who are at risk. However, the influence of genetic and environmental factors on the development of this complex disorder remains unclear.
|
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How many people are affected by chylomicron retention disease ?
|
Chylomicron retention disease is a rare condition with approximately 40 cases described worldwide.
|
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] |
What are the treatments for systemic scleroderma ?
|
These resources address the diagnosis or management of systemic scleroderma: - Cedars-Sinai Medical Center - Genetic Testing Registry: Scleroderma, familial progressive - University of Maryland Medical Center These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
|
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Is Isovaleric acidemia inherited ?
|
How is isovaleric acidemia inherited? Isovaleric acidemia is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
|
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What is (are) Leigh syndrome ?
|
Leigh syndrome is a severe neurological disorder that typically arises in the first year of life. This condition is characterized by progressive loss of mental and movement abilities (psychomotor regression) and typically results in death within a couple of years, usually due to respiratory failure. A small number of individuals develop symptoms in adulthood or have symptoms that worsen more slowly. The first signs of Leigh syndrome seen in infancy are usually vomiting, diarrhea, and difficulty swallowing (dysphagia) that leads to eating problems. These problems often result in an inability to grow and gain weight at the expected rate (failure to thrive). Severe muscle and movement problems are common in Leigh syndrome. Affected individuals may develop weak muscle tone (hypotonia), involuntary muscle contractions (dystonia), and problems with movement and balance (ataxia). Loss of sensation and weakness in the limbs (peripheral neuropathy), common in people with Leigh syndrome, may also make movement difficult. Several other features may occur in people with Leigh syndrome. Many affected individuals develop weakness or paralysis of the muscles that move the eyes (ophthalmoparesis); rapid, involuntary eye movements (nystagmus); or degeneration of the nerves that carry information from the eyes to the brain (optic atrophy). Severe breathing problems are common in people with Leigh syndrome, and these problems can worsen until they cause acute respiratory failure. Some affected individuals develop hypertrophic cardiomyopathy, which is a thickening of the heart muscle that forces the heart to work harder to pump blood. In addition, a substance called lactate can build up in the body, and excessive amounts are often found in the blood, cerebrospinal fluid, or urine of people with Leigh syndrome. The signs and symptoms of Leigh syndrome are caused in part by patches of damaged tissue (lesions) that develop in the brains of people with this condition. A procedure called magnetic resonance imaging (MRI) reveals characteristic lesions in certain regions of the brain and the brainstem (the part of the brain that is connected to the spinal cord). These regions include the basal ganglia, which help control movement; the cerebellum, which controls the ability to balance and coordinates movement; and the brainstem, which controls functions such as swallowing, breathing, hearing, and seeing. The brain lesions are often accompanied by loss of the myelin coating around nerves (demyelination), which reduces the ability of the nerves to activate muscles used for movement or relay sensory information back to the brain.
|
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] |
What is (are) Fanconi Anemia ?
|
Fanconi anemia (fan-KO-nee uh-NEE-me-uh), or FA, is a rare, inherited blood disorder that leads to bone marrow failure. The disorder also is called Fanconis anemia.
FA prevents your bone marrow from making enough new blood cells for your body to work normally. FA also can cause your bone marrow to make many faulty blood cells. This can lead to serious health problems, such as leukemia (a type of blood cancer).
Although FA is a blood disorder, it also can affect many of your body's organs, tissues, and systems. Children who inherit FA are at higher risk of being born with birth defects. FA also increases the risk of some cancers and other serious health problems.
FA is different from Fanconi syndrome. Fanconi syndrome affects the kidneys. It's a rare and serious condition that mostly affects children.
Children who have Fanconi syndrome pass large amounts of key nutrients and chemicals through their urine. These children may have serious health and developmental problems.
Bone Marrow and Blood
Bone marrow is the spongy tissue inside the large bones of your body. Healthy bone marrow contains stem cells that develop into the three types of blood cells that the body needs:
Red blood cells, which carry oxygen to all parts of your body. Red blood cells also remove carbon dioxide (a waste product) from your body's cells and carry it to the lungs to be exhaled.
White blood cells, which help fight infections.
Platelets (PLATE-lets), which help your blood clot.
It's normal for blood cells to die. The lifespan of red blood cells is about 120 days. White blood cells live less than 1 day. Platelets live about 6 days. As a result, your bone marrow must constantly make new blood cells.
If your bone marrow can't make enough new blood cells to replace the ones that die, serious health problems can occur.
Fanconi Anemia and Your Body
FA is one of many types of anemia. The term "anemia" usually refers to a condition in which the blood has a lower than normal number of red blood cells.
FA is a type of aplastic anemia. In aplastic anemia, the bone marrow stops making or doesn't make enough of all three types of blood cells. Low levels of the three types of blood cells can harm many of the body's organs, tissues, and systems.
With too few red blood cells, your body's tissues won't get enough oxygen to work well. With too few white blood cells, your body may have problems fighting infections. This can make you sick more often and make infections worse. With too few platelets, your blood cant clot normally. As a result, you may have bleeding problems.
Outlook
People who have FA have a greater risk than other people for some cancers. About 10percent of people who have FA develop leukemia.
People who have FA and survive to adulthood are much more likely than others to develop cancerous solid tumors.
The risk of solid tumors increases with age in people who have FA. These tumors can develop in the mouth, tongue, throat, or esophagus (eh-SOF-ah-gus). (The esophagus is the passage leading from the mouth to the stomach.)
Women who have FA are at much greater risk than other women of developing tumors in the reproductive organs.
FA is an unpredictable disease. The average lifespan for people who have FA is between 20 and 30 years. The most common causes of death related to FA are bone marrow failure, leukemia, and solid tumors.
Advances in care and treatment have improved the chances of surviving longer with FA. Blood and marrow stem cell transplant is the major advance in treatment. However, even with this treatment, the risk of some cancers is greater in people who have FA.
|
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] |
What causes Juvenile myoclonic epilepsy ?
|
What causes juvenile myoclonic epilepsy? The exact cause of juvenile myoclonic epilepsy remains unknown. It is not associated with conditions such as head trauma, brain tumor, or encephalitis. Several families have specific mutations in various genes and a complex mode of inheritance. In individuals with juvenile myoclonic epilepsy, symptoms can be precipitated by: Sleep deprivation Psychological stress Alcohol and drug use Noncompliance of medication Photic stimulation Menses Time of day - Usually mornings
|
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what research (or clinical trials) is being done for Incontinentia Pigmenti ?
|
Researchers have begun to use genetic linkage studies to map the location of genes associated with the neurocutaneous disorders. Research supported by the NINDS includes studies to understand how the brain and nervous system normally develop and function and how they are affected by genetic mutations. These studies contribute to a greater understanding of gene-linked disorders such as IP, and have the potential to open promising new avenues of treatment.
|
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] |
Is beta-ureidopropionase deficiency 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 treatments for Isovaleric acidemia ?
|
How might isovaleric acidemia be treated? There is currently no cure for isovaleric acidemia (IVA). Upon diagnosis, immediate treatment is typically necessary in order to prevent metabolic crises and complications that may follow. It is often recommended that affected individuals have a low-leucine / low-protein diet and use medical foods (such as special low-protein flours, pastas, and rice that are made especially for people with organic acid disorders) and leucine-free medical formula. A dietician with knowledge of IVA can help parents create a food plan that contains the right amount of protein, nutrients, and energy to keep the child healthy. Any diet changes should be under the guidance of a dietician. Medications that may be recommended include glycine and L-carnitine, which help rid the body of unwanted isovaleric acid and other harmful substances. No medication or supplement should be used without checking with a metabolic doctor. Children with symptoms of a metabolic crisis need medical treatment right away and may be given bicarbonate, glucose, and other medications by IV. With prompt and careful treatment, children with IVA have a good chance to live healthy lives with normal growth and development. However, some children, even when treated, may have repeated metabolic crises which can lead to life-long learning problems or mental retardation.
|
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What are the treatments for MTHFR gene mutation ?
|
How might a MTHFR gene mutation be treated? High homocysteine levels in the body may occur if the MTHFR enzyme is not functioning normally due to MTHFR mutations, such as C677T and A1298C. Currently there are no treatments to remove adverse risks associated with MTHFR gene mutations. However, elevated levels of homocysteine can also occur if there is a lack of folate or B vitamins. Homocysteine levels also tend to rise with age, smoking, and use of certain drugs (such as carbamazepine, methotrexate, and phenytoin). It is important to ensure that people with and without MTHFR gene mutations receive adequate amounts of naturally occurring folate, choline, and B vitamins (B12, B6, and riboflavin) to mitigate nutritional risks. If adequate nutrition cannot be attained through diet alone, supplementation with folate (e.g., levomefolate (5-methyl THF) or folinic acid) and B vitamins is considered. We recommend that you talk to your doctor to learn if supplementation would benefit you. Smoking cessation and, when possible, avoidance of medications that adversely affect homocystiene level are additional management strategies.
|
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What are the genetic changes related to Crouzonodermoskeletal syndrome ?
|
Mutations in the FGFR3 gene cause Crouzonodermoskeletal syndrome. The FGFR3 gene provides instructions for making a protein that is involved in the development and maintenance of bone and brain tissue. It remains unclear how a mutation in the FGFR3 gene leads to the characteristic features of Crouzonodermoskeletal syndrome. This genetic change appears to disrupt the normal growth of skull bones and affect skin pigmentation.
|
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How to diagnose Narcolepsy ?
|
It can take as long as 10 to 15 years after the first symptoms appear before narcolepsy is recognized and diagnosed. This is because narcolepsy is fairly rare. Also, many narcolepsy symptoms are like symptoms of other illnesses, such as infections, depression, and sleep disorders.
Narcolepsy sometimes is mistaken for learning problems, seizure disorders, or laziness, especially in school-aged children and teens. When narcolepsy symptoms are mild, the disorder is even harder to diagnose.
Your doctor will diagnose narcolepsy based on your signs and symptoms, your medical and family histories, a physical exam, and test results.
Signs and Symptoms
Tell your doctor about any signs and symptoms of narcolepsy that you have. This is important because your doctor may not ask about them during a routine checkup.
Your doctor will want to know when you first had signs and symptoms and whether they bother your sleep or daily routine. He or she also will want to know about your sleep habits and how you feel and act during the day.
To help answer these questions, you may want to keep a sleep diary for a few weeks. Keep a daily record of how easy it is to fall and stay asleep, how much sleep you get at night, and how alert you feel during the day.
For a sample sleep diary, go to the National Heart, Lung, and Blood Institute's "Your Guide to Healthy Sleep."
Medical and Family Histories
Your doctor may ask whether:
You're affected by certain factors that can lead to narcolepsy. Examples of these factors include infections, brain injuries, and autoimmune disorders. Some research suggests that environmental toxins may play a role in triggering narcolepsy.
You take medicines and which ones you take. Some medicines can cause daytime sleepiness. Thus, your symptoms may be due to medicine, not narcolepsy.
You have symptoms of other sleep disorders that cause daytime sleepiness.
You have relatives who have narcolepsy or who have signs or symptoms of the disorder.
Physical Exam
Your doctor will check you to see whether another condition is causing your symptoms. For example, infections, certain thyroid diseases, drug and alcohol use, and other medical or sleep disorders may cause symptoms similar to those of narcolepsy.
Diagnostic Tests
Sleep Studies
If your doctor thinks you have narcolepsy, he or she will likely suggest that you see a sleep specialist. This specialist may advise you to have sleep studies to find out more about your condition.
Sleep studies usually are done at a sleep center. Doctors use the results from two tests to diagnose narcolepsy. These tests are a polysomnogram (PSG) and a multiple sleep latency test (MSLT).
Polysomnogram. You usually stay overnight at a sleep center for a PSG. The test records brain activity, eye movements, heart rate, and blood pressure. A PSG can help find out whether you:
Fall asleep quickly
Go into rapid eye movement (REM) sleep soon after falling asleep
Wake up often during the night
Multiple sleep latency test. This daytime sleep study measures how sleepy you are. It's often done the day after a PSG. During the test, you're asked to nap for 20minutes every 2 hours throughout the day. (You will nap a total of four or five times.)
A technician checks your brain activity during this time. He or she notes how quickly you fall asleep and how long it takes you to reach various stages of sleep.
An MSLT finds out how quickly you fall asleep during the day (after a full night's sleep). It also shows whether you go into REM sleep soon after falling asleep.
Other Tests
Hypocretin test. This test measures the level of hypocretin in the fluid that surrounds your spinal cord. Most people who have narcolepsy have low levels of hypocretin. Hypocretin is a chemical that helps promote wakefulness.
To get a sample of spinal cord fluid, a spinal tap (also called a lumbar puncture) is done. For this procedure, your doctor inserts a needle into your lower back area and then withdraws a sample of your spinal fluid.
|
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] |
Is SLC4A1-associated distal renal tubular acidosis inherited ?
|
SLC4A1-associated distal renal tubular acidosis can have different patterns of inheritance. It is usually inherited in an autosomal dominant pattern, which means one copy of the altered SLC4A1 gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family. Less commonly, SLC4A1-associated distal renal tubular acidosis has an autosomal recessive pattern of inheritance, which means a mutation must occur in both copies of the SLC4A1 gene for the condition to develop. This pattern occurs with certain types of SLC4A1 gene 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 Cold agglutinin disease ?
|
What are the signs and symptoms of Cold agglutinin disease? Cold agglutinin disease is a rare type of autoimmune hemolytic anemia in which the body's immune system mistakenly attacks and destroys its own red blood cells. When affected people's blood is exposed to cold temperatures (32 to 50 F), certain proteins that normally attack bacteria (IgM antibodies) attach themselves to red blood cells and bind them together into clumps (agglutination). The antibodies then activate other components of the blood, which eventually causes red blood cells to be prematurely destroyed. As the number or red blood cells drop, affected people typically experience anemia, which may be associated with pallor, weakness, fatigue, irritability, headaches, and/or dizziness. Other signs and symptoms of cold agglutinin disease vary, but may include: Painful fingers and toes with purplish discoloration Abnormal behavior Amenorrhea Gastrointestinal issues Dark urine Enlargement of the spleen Jaundice Heart failure Shock The Human Phenotype Ontology provides the following list of signs and symptoms for Cold agglutinin disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Arthralgia 90% Autoimmunity 90% Hemolytic anemia 90% Muscle weakness 90% Pallor 90% Abnormality of urine homeostasis 7.5% Diarrhea 7.5% Hepatomegaly 7.5% Lymphadenopathy 7.5% Migraine 7.5% Nausea and vomiting 7.5% Splenomegaly 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
|
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497,
1119,
281,
452,
326,
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15,
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327,
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1263,
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778,
320,
7520,
390,
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15
] |
How many people are affected by Imerslund-Grsbeck syndrome ?
|
Imerslund-Grsbeck syndrome is a rare condition that was first described in Finland and Norway; in these regions, the condition is estimated to affect 1 in 200,000 people. The condition has also been reported in other countries worldwide; its prevalence in these countries is unknown.
|
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What are the treatments for X-linked myotubular myopathy ?
|
These resources address the diagnosis or management of X-linked myotubular myopathy: - Gene Review: Gene Review: X-Linked Centronuclear Myopathy - Genetic Testing Registry: Severe X-linked myotubular myopathy 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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How to diagnose Arrhythmia ?
|
Arrhythmias can be hard to diagnose, especially the types that only cause symptoms every once in a while. Doctors diagnose arrhythmias based on medical and family histories, a physical exam, and the results from tests and procedures.
Specialists Involved
Doctors who specialize in the diagnosis and treatment of heart diseases include:
Cardiologists. These doctors diagnose and treat adults who have heart problems.
Pediatric cardiologists. These doctors diagnose and treat babies, children, and youth who have heart problems.
Electrophysiologists. These doctors are cardiologists or pediatric cardiologists who specialize in arrhythmias.
Medical and Family Histories
To diagnose an arrhythmia, your doctor may ask you to describe your symptoms. He or she may ask whether you feel fluttering in your chest and whether you feel dizzy or light-headed.
Your doctor also may ask whether you have other health problems, such as a history of heart disease, high blood pressure, diabetes, or thyroid problems. He or she may ask about your family's medical history, including whether anyone in your family:
Has a history of arrhythmias
Has ever had heart disease or high blood pressure
Has died suddenly
Has other illnesses or health problems
Your doctor will likely want to know what medicines you're taking, including over-the-counter medicines and supplements.
Your doctor may ask about your health habits, such as physical activity, smoking, or using alcohol or drugs (for example, cocaine). He or she also may want to know whether you've had emotional stress or anger.
Physical Exam
During a physical exam, your doctor may:
Listen to the rate and rhythm of your heartbeat
Listen to your heart for a heart murmur (an extra or unusual sound heard during your heartbeat)
Check your pulse to find out how fast your heart is beating
Check for swelling in your legs or feet, which could be a sign of an enlarged heart or heart failure
Look for signs of other diseases, such as thyroid disease, that could be causing the problem
Diagnostic Tests and Procedures
EKG (Electrocardiogram)
An EKG is a simple, painless test that detects and records the heart's electrical activity. It's the most common test used to diagnose arrhythmias.
An EKG shows how fast the heart is beating and its rhythm (steady or irregular). It also records the strength and timing of electrical signals as they pass through the heart.
A standard EKG only records the heartbeat for a few seconds. It won't detect arrhythmias that don't happen during the test.
To diagnose arrhythmias that come and go, your doctor may have you wear a portable EKG monitor. The two most common types of portable EKGs are Holter and event monitors.
Holter and Event Monitors
A Holter monitor records the heart's electrical signals for a full 24- or 48-hour period. You wear one while you do your normal daily activities. This allows the monitor to record your heart for a longer time than a standard EKG.
An event monitor is similar to a Holter monitor. You wear an event monitor while doing your normal activities. However, an event monitor only records your heart's electrical activity at certain times while you're wearing it.
For many event monitors, you push a button to start the monitor when you feel symptoms. Other event monitors start automatically when they sense abnormal heart rhythms.
Some event monitors are able to send data about your heart's electrical activity to a central monitoring station. Technicians at the station review the information and send it to your doctor. You also can use the device to report any symptoms you're having.
You can wear an event monitor for weeks or until symptoms occur.
Other Tests
Other tests also are used to help diagnose arrhythmias.
Blood tests. Blood tests check the level of substances in the blood, such as potassium and thyroid hormone. Abnormal levels of these substances can increase your chances of having an arrhythmia.
Chest x ray. A chest x ray is a painless test that creates pictures of the structures in your chest, such as your heart and lungs. This test can show whether your heart is enlarged.
Echocardiography. This test uses sound waves to create a moving picture of your heart. Echocardiography (echo) provides information about the size and shape of your heart and how well your heart chambers and valves are working.
The test also can identify areas of poor blood flow to the heart, areas of heart muscle that aren't contracting normally, and previous injury to the heart muscle caused by poor blood flow.
There are several types of echo, including stress echo. This test is done both before and after a stress test (see below). A stress echo usually is done to find out whether you have decreased blood flow to your heart, a sign of coronary heart disease (CHD).
A transesophageal (tranz-ih-sof-uh-JEE-ul) echo, or TEE, is a special type of echo that takes pictures of the heart through the esophagus. The esophagus is the passage leading from your mouth to your stomach.
Stress test. Some heart problems are easier to diagnose when your heart is working hard and beating fast. During stress testing, you exercise to make your heart work hard and beat fast while heart tests are done. If you can't exercise, you may be given medicine to make your heart work hard and beat fast.
The heart tests done during stress testing may include nuclear heart scanning, echo, and positron emission tomography (PET) scanning of the heart.
Electrophysiology study (EPS). This test is used to assess serious arrhythmias. During an EPS, a thin, flexible wire is passed through a vein in your groin (upper thigh) or arm to your heart. The wire records your heart's electrical signals.
Your doctor can use the wire to electrically stimulate your heart and trigger an arrhythmia. This allows your doctor to see whether an antiarrhythmia medicine can stop the problem.
Catheter ablation, a procedure used to treat some arrhythmias, may be done during an EPS.
Tilt table testing. This test sometimes is used to help find the cause of fainting spells. You lie on a table that moves from a lying down to an upright position. The change in position may cause you to faint.
Your doctor watches your symptoms, heart rate, EKG reading, and blood pressure throughout the test. He or she may give you medicine and then check your response to the medicine.
Coronary angiography. Coronary angiography uses dye and special x rays to show the inside of your coronary arteries. To get the dye into your coronary arteries, your doctor will use a procedure called cardiac catheterization (KATH-e-ter-ih-ZA-shun).
A thin, flexible tube called a catheter is put into a blood vessel in your arm, groin (upper thigh), or neck. The tube is threaded into your coronary arteries, and the dye is released into your bloodstream.
Special x rays are taken while the dye is flowing through your coronary arteries. The dye lets your doctor study the flow of blood through your heart and blood vessels. This helps your doctor find blockages that can cause a heart attack.
Implantable loop recorder. This device detects abnormal heart rhythms. Minor surgery is used to place this device under the skin in the chest area.
An implantable loop recorder helps doctors figure out why a person may be having palpitations or fainting spells, especially if these symptoms don't happen very often. The device can be used for as long as 12 to 24 months.
|
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] |
What causes Heart Valve Disease ?
|
Heart conditions and other disorders, age-related changes, rheumatic fever, or infections can cause acquired heart valve disease. These factors change the shape or flexibility of once-normal heart valves.
The cause of congenital heart valve disease isnt known. It occurs before birth as the heart is forming. Congenital heart valve disease can occur alone or with other types of congenital heartdefects.
Heart Conditions and Other Disorders
Certain conditions can stretch and distort the heart valves. These conditions include:
Advanced high blood pressure and heart failure, thiscan enlarge the heart or the main arteries.
Atherosclerosis in the aorta. Atherosclerosis is a condition in which a waxy substance called plaque builds up inside the arteries. The aorta is the main artery that carries oxygen-rich blood to the body.
Damage and scar tissue due to a heart attack or injury to the heart.
Rheumatic Fever
Untreated strep throat or other infections with strep bacteria that progress to rheumatic fever can cause heart valve disease.
When the body tries to fight the strep infection, one or more heart valves may be damaged or scarred in the process. The aortic and mitral valves most often are affected. Symptoms of heart valve damage often dont appear until many years after recovery from rheumatic fever.
Today, most people who have strep infections are treated with antibiotics before rheumatic fever occurs. If you have strep throat, take all of the antibiotics your doctor prescribes, even if you feel better before the medicine is gone.
Heart valve disease caused by rheumatic fever mainly affects older adults who had strep infections before antibiotics were available. It also affects people from developing countries, where rheumatic fever is more common.
Infections
Common germs that enter the bloodstream and get carried to the heart can sometimes infect the inner surface of the heart, including the heart valves. This rare but serious infection is called infective endocarditis.
The germs can enter the bloodstream through needles, syringes, or other medical devices and through breaks in the skin or gums. Often, the bodys defenses fight off the germs and no infection occurs. Sometimes these defenses fail, which leads to infective endocarditis.
Infective endocarditis can develop in people who already have abnormal blood flow through a heart valve as the result of congenital or acquired heart valve disease. The abnormal blood flow causes blood clots to form on the surface of the valve. The blood clots make it easier for germs to attach to and infect the valve.
Infective endocarditis can worsen existing heart valve disease.
Other Conditions and Factors Linked to Heart Valve Disease
Many other conditions and factors are linked to heart valve disease. However, the role they play in causing heart valve disease often isnt clear.
Autoimmune disorders. Autoimmune disorders, such as lupus, can affect the aortic and mitral valves.
Carcinoid syndrome. Tumors in the digestive tract that spread to the liver or lymph nodes can affect the tricuspid and pulmonary valves.
Diet medicines. The use of fenfluramine and phentermine (fen-phen) sometimes has been linked to heart valve problems. These problems typically stabilize or improve after the medicine is stopped.
Marfan syndrome. Congenital disorders, such as Marfan syndrome and other connective tissue disorders, can affect the heart valves.
Metabolic disorders. Relatively uncommon diseases (such as Fabry disease) and other metabolic disorders (such as high blood cholesterol) can affect the heart valves.
Radiation therapy. Radiation therapy to the chest area can cause heart valve disease. This therapy is used to treat cancer. Heart valve disease due to radiation therapy may not cause symptoms until years after the therapy.
|
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What to do for What I need to know about Hepatitis A ?
|
If you have hepatitis A, you should do things to take care of yourself, including eating a healthy diet. Avoid drinking alcohol, which can harm the liver. Talk with your doctor before taking vitamins and other supplements.
|
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Do you have information about Dietary Fiber
|
Summary : Fiber is a substance in plants. Dietary fiber is the kind you eat. It's a type of carbohydrate. You may also see it listed on a food label as soluble fiber or insoluble fiber. Both types have important health benefits. Good sources of dietary fiber include - Whole grains - Nuts and seeds - Fruit and vegetables Dietary fiber adds bulk to your diet and makes you feel full faster, helping you control your weight. It helps digestion and helps prevent constipation. Most Americans don't eat enough dietary fiber. But add it to your diet slowly. Increasing dietary fiber too quickly can lead to gas, bloating, and cramps. Centers for Disease Control and Prevention
|
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What are the treatments for Cerulean cataract ?
|
How might cerulean cataracts be treated? No treatment is known to prevent cerulean cataracts, and there is currently no cure for the condition. Frequent eye evaluations and eventual cataract surgery are typically required to prevent amblyopia (vision loss) as the opacities progress. The symptoms of early cataracts may be improved with new eyeglasses, brighter lighting, anti-glare sunglasses, or magnifying lenses. However, if these measures do not help, surgery is often the only effective treatment. Surgery involves removing the cloudy lens and replacing it with an artificial lens. Surgery is often considered when vision loss regularly interferes with everyday activities, such as driving, reading, or watching TV.
|
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What are the treatments for Lymphatic filariasis ?
|
How might lymphatic filariasis be treated? The main treatment for this disorder is the use of major anti-parasiticide drugs; examples of these include ivermectin, albendazole, and diethylcarbamazine (DEC). These drugs work to get rid of the larval worm, to inhibit reproduction of the adult worm, or to kill the adult worm. For individuals who are actively infected with the filarial parasite, DEC is typically the drug of choice in the United States. The drug kills the microfilaria and some of the adult worms. DEC has been used world-wide for more than 50 years. Because this infection is rare in the U.S., the drug is no longer approved by the Food and Drug Administration (FDA) and cannot be sold in the United.States. Physicians can typically obtain the medication from the CDC after confirmed positive lab results. DEC is generally well tolerated. Side effects are in general limited and depend on the number of microfilariae in the blood. The most common side effects are dizziness, nausea, fever, headache, or pain in muscles or joints. Another treatment option, ivermectin, kills only the microfilariae. For individuals with clinical symptoms of the condition, treatment depends on the signs and symptoms the affected individual has. Lymphedema and elephantiasis are not typically indications for DEC treatment because most people with lymphedema are not actively infected with the filarial parasite. To prevent the lymphedema from getting worse, individuals should ask their physician for a referral to a lymphedema therapist so they can be informed about some basic principles of care such as hygiene, exercise and treatment of wounds. Men with hydrocele (abnormal accumulation of fluid in the scrotum) may have evidence of active infection, but typically do not improve clinically following treatment with DEC. The treatment for hydrocele is surgery. Surgery may also be performed to remove the remains of adult worms and calcifications developing around them. Treatment of elephantiasis of the legs usually consists of elevation and support from elastic stockings. In the tropical areas of the world, mosquito control is an important part of prevention of filariasis. Filariasis is usually a self-limited disease unless reinfection occurs. Therefore some cases, especially those brought into temperate regions of the world (i.e., North America), may be left untreated because there is no danger of spreading the disease.
|
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] |
What are the treatments for Shprintzen-Goldberg syndrome ?
|
These resources address the diagnosis or management of Shprintzen-Goldberg syndrome: - Gene Review: Gene Review: Shprintzen-Goldberg Syndrome - Genetic Testing Registry: Shprintzen-Goldberg syndrome - Johns Hopkins Medicine: Diagnosis of Craniosynostosis - MedlinePlus Encyclopedia: Craniosynostosis 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 symptoms of Hunter Rudd Hoffmann syndrome ?
|
What are the signs and symptoms of Hunter Rudd Hoffmann syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hunter Rudd Hoffmann 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 dermatoglyphics 90% Abnormality of the distal phalanx of finger 90% Abnormality of the fingernails 90% Abnormality of the toenails 90% Clinodactyly of the 5th finger 90% Cognitive impairment 90% Convex nasal ridge 90% Craniosynostosis 90% Epicanthus 90% Hypotelorism 90% Intrauterine growth retardation 90% Low-set, posteriorly rotated ears 90% Narrow forehead 90% Prominent metopic ridge 90% Ptosis 90% Short stature 90% Trigonocephaly 90% Underdeveloped supraorbital ridges 90% Wide mouth 90% Wide nasal bridge 90% Abnormality of the palate 7.5% EEG abnormality 7.5% Hernia of the abdominal wall 7.5% Proptosis 7.5% Seizures 7.5% Ventricular septal defect 7.5% Broad secondary alveolar ridge - High palate - Inguinal hernia - Intellectual disability - Lambdoidal craniosynostosis - Low-set ears - Posteriorly rotated ears - Premature posterior fontanelle closure - Sagittal craniosynostosis - Small anterior fontanelle - Small for gestational age - 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 to do for Proctitis ?
|
- Proctitis is inflammation of the lining of the rectum, the lower end of the large intestine leading to the anus. - Common causes of proctitis are sexually transmitted diseases (STDs), non-STD infections, anorectal trauma, ulcerative colitis and Crohns disease, radiation therapy, and antibiotic use. - Treatment of proctitis depends on its cause; the goal of treatment is to reduce inflammation, control symptoms, and eliminate infection, if present. - With proper medical attention, proctitis can be successfully treated. - If infection is present with proctitis, antibiotics can be used to kill bacteria and antiviral medications can treat viral infections. - People who receive anal sex can avoid getting STD-related proctitis by having their partner use a condom. - If anorectal trauma caused proctitis, stopping the activity that triggered inflammation often will stop the inflammation and prevent recurrence. - Some causes of proctitis cannot always be prevented, but their symptoms can be treated by a doctor.
|
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What are the symptoms of Joubert syndrome with oculorenal anomalies ?
|
What are the signs and symptoms of Joubert syndrome with oculorenal anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Joubert syndrome with oculorenal 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) Aplasia/Hypoplasia of the cerebellum 90% Apnea 90% Cognitive impairment 90% Incoordination 90% Muscular hypotonia 90% Nephropathy 90% Chorioretinal coloboma 50% Iris coloboma 50% Long face 50% Low-set, posteriorly rotated ears 50% Narrow forehead 50% Nystagmus 50% Ptosis 50% Visual impairment 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% Prominent nasal bridge 7.5% Renal insufficiency 7.5% Scoliosis 7.5% Seizures 7.5% Strabismus 7.5% Agenesis of cerebellar vermis - Aplasia/Hypoplasia of the cerebellar vermis - Ataxia - Autosomal recessive inheritance - Blindness - Brainstem dysplasia - Dilated fourth ventricle - Dyspnea - Hepatic fibrosis - Hepatic steatosis - Hepatomegaly - Heterotopia - Hypoplasia of the brainstem - Intellectual disability, progressive - Intellectual disability, severe - Molar tooth sign on MRI - Nephronophthisis - Occipital meningocele - Polycystic kidney dysplasia - Postaxial foot polydactyly - Postaxial hand polydactyly - Renal corticomedullary cysts - Retinal dystrophy - Stage 5 chronic kidney disease - Tachypnea - Tubular atrophy - Tubulointerstitial fibrosis - Undetectable electroretinogram - Wide 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 are the treatments for Proud syndrome ?
|
How might Proud syndrome be treated? The treatment of Proud syndrome is based on the signs and symptoms present in each person. For example, spasticity may be treated with a variety of therapies including medications and/or physical therapy. Medications may be prescribed to help prevent and/or control recurrent seizures. Surgery may be required to treat certain physical abnormalities such as kidney or genital issues. Children with severe intellectual disability may benefit from special education services. For personalized information about the treatment and management of Partington syndrome, please speak to a healthcare provider.
|
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15
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What is (are) Neonatal intrahepatic cholestasis caused by citrin deficiency ?
|
Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is a liver condition is also known as neonatal-onset type II citrullinemia. NICCD blocks the flow of bile (a digestive fluid produced by the liver) and prevents the body from processing certain nutrients properly. This leads to transient intrahepatic cholestasis and variable liver dysfunction in children younger than one year of age. NICCD is generally not severe, and symptoms disappear by age one year with appropriate treatment. Years or even decades later, however, some of these individuals develop the characteristic features of adult-onset type II citrullinemia. NICCD is caused by mutations in the SLC25A13 gene. This condition is inherited in an autosomal recessive pattern.
|
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What are the treatments for Prostate Enlargement: Benign Prostatic Hyperplasia ?
|
Treatment options for benign prostatic hyperplasia may include
- lifestyle changes - medications - minimally invasive procedures - surgery
A health care provider treats benign prostatic hyperplasia based on the severity of symptoms, how much the symptoms affect a mans daily life, and a mans preferences.
Men may not need treatment for a mildly enlarged prostate unless their symptoms are bothersome and affecting their quality of life. In these cases, instead of treatment, a urologist may recommend regular checkups. If benign prostatic hyperplasia symptoms become bothersome or present a health risk, a urologist most often recommends treatment.
Lifestyle Changes
A health care provider may recommend lifestyle changes for men whose symptoms are mild or slightly bothersome. Lifestyle changes can include
- reducing intake of liquids, particularly before going out in public or before periods of sleep - avoiding or reducing intake of caffeinated beverages and alcohol - avoiding or monitoring the use of medications such as decongestants, antihistamines, antidepressants, and diuretics - training the bladder to hold more urine for longer periods - exercising pelvic floor muscles - preventing or treating constipation
Medications
A health care provider or urologist may prescribe medications that stop the growth of or shrink the prostate or reduce symptoms associated with benign prostatic hyperplasia:
- alpha blockers - phosphodiesterase-5 inhibitors - 5-alpha reductase inhibitors - combination medications
Alpha blockers. These medications relax the smooth muscles of the prostate and bladder neck to improve urine flow and reduce bladder blockage:
- terazosin (Hytrin) - doxazosin (Cardura) - tamsulosin (Flomax) - alfuzosin (Uroxatral) - silodosin (Rapaflo)
Phosphodiesterase-5 inhibitors. Urologists prescribe these medications mainly for erectile dysfunction. Tadalafil (Cialis) belongs to this class of medications and can reduce lower urinary tract symptoms by relaxing smooth muscles in the lower urinary tract. Researchers are working to determine the role of erectile dysfunction drugs in the long-term treatment of benign prostatic hyperplasia.
5-alpha reductase inhibitors. These medications block the production of DHT, which accumulates in the prostate and may cause prostate growth:
- finasteride (Proscar) - dutasteride (Avodart)
These medications can prevent progression of prostate growth or actually shrink the prostate in some men. Finasteride and dutasteride act more slowly than alpha blockers and are useful for only moderately enlarged prostates.
Combination medications. Several studies, such as the Medical Therapy of Prostatic Symptoms (MTOPS) study, have shown that combining two classes of medications, instead of using just one, can more effectively improve symptoms, urinary flow, and quality of life. The combinations include
- finasteride and doxazosin - dutasteride and tamsulosin (Jalyn), a combination of both medications that is available in a single tablet - alpha blockers and antimuscarinics
A urologist may prescribe a combination of alpha blockers and antimuscarinics for patients with overactive bladder symptoms. Overactive bladder is a condition in which the bladder muscles contract uncontrollably and cause urinary frequency, urinary urgency, and urinary incontinence. Antimuscarinics are a class of medications that relax the bladder muscles.
Minimally Invasive Procedures
Researchers have developed a number of minimally invasive procedures that relieve benign prostatic hyperplasia symptoms when medications prove ineffective. These procedures include
- transurethral needle ablation - transurethral microwave thermotherapy - high-intensity focused ultrasound - transurethral electrovaporization - water-induced thermotherapy - prostatic stent insertion
Minimally invasive procedures can destroy enlarged prostate tissue or widen the urethra, which can help relieve blockage and urinary retention caused by benign prostatic hyperplasia.
Urologists perform minimally invasive procedures using the transurethral method, which involves inserting a cathetera thin, flexible tubeor cystoscope through the urethra to reach the prostate. These procedures may require local, regional, or general anesthesia. Although destroying troublesome prostate tissue relieves many benign prostatic hyperplasia symptoms, tissue destruction does not cure benign prostatic hyperplasia. A urologist will decide which procedure to perform based on the mans symptoms and overall health.
Transurethral needle ablation. This procedure uses heat generated by radiofrequency energy to destroy prostate tissue. A urologist inserts a cystoscope through the urethra to the prostate. A urologist then inserts small needles through the end of the cystoscope into the prostate. The needles send radiofrequency energy that heats and destroys selected portions of prostate tissue. Shields protect the urethra from heat damage.
Transurethral microwave thermotherapy. This procedure uses microwaves to destroy prostate tissue. A urologist inserts a catheter through the urethra to the prostate, and a device called an antenna sends microwaves through the catheter to heat selected portions of the prostate. The temperature becomes high enough inside the prostate to destroy enlarged tissue. A cooling system protects the urinary tract from heat damage during the procedure.
High-intensity focused ultrasound. For this procedure, a urologist inserts a special ultrasound probe into the rectum, near the prostate. Ultrasound waves from the probe heat and destroy enlarged prostate tissue.
Transurethral electrovaporization. For this procedure, a urologist inserts a tubelike instrument called a resectoscope through the urethra to reach the prostate. An electrode attached to the resectoscope moves across the surface of the prostate and transmits an electric current that vaporizes prostate tissue. The vaporizing effect penetrates below the surface area being treated and seals blood vessels, which reduces the risk of bleeding.
Water-induced thermotherapy. This procedure uses heated water to destroy prostate tissue. A urologist inserts a catheter into the urethra so that a treatment balloon rests in the middle of the prostate. Heated water flows through the catheter into the treatment balloon, which heats and destroys the surrounding prostate tissue. The treatment balloon can target a specific region of the prostate, while surrounding tissues in the urethra and bladder remain protected.
Prostatic stent insertion. This procedure involves a urologist inserting a small device called a prostatic stent through the urethra to the area narrowed by the enlarged prostate. Once in place, the stent expands like a spring, and it pushes back the prostate tissue, widening the urethra. Prostatic stents may be temporary or permanent. Urologists generally use prostatic stents in men who may not tolerate or be suitable for other procedures.
Surgery
For long-term treatment of benign prostatic hyperplasia, a urologist may recommend removing enlarged prostate tissue or making cuts in the prostate to widen the urethra. Urologists recommend surgery when
- medications and minimally invasive procedures are ineffective - symptoms are particularly bothersome or severe - complications arise
Although removing troublesome prostate tissue relieves many benign prostatic hyperplasia symptoms, tissue removal does not cure benign prostatic hyperplasia.
Surgery to remove enlarged prostate tissue includes
- transurethral resection of the prostate (TURP) - laser surgery - open prostatectomy - transurethral incision of the prostate (TUIP)
A urologist performs these surgeries, except for open prostatectomy, using the transurethral method. Men who have these surgical procedures require local, regional, or general anesthesia and may need to stay in the hospital.
The urologist may prescribe antibiotics before or soon after surgery to prevent infection. Some urologists prescribe antibiotics only when an infection occurs.
Immediately after benign prostatic hyperplasia surgery, a urologist may insert a special catheter, called a Foley catheter, through the opening of the penis to drain urine from the bladder into a drainage pouch.
TURP. With TURP, a urologist inserts a resectoscope through the urethra to reach the prostate and cuts pieces of enlarged prostate tissue with a wire loop. Special fluid carries the tissue pieces into the bladder, and the urologist flushes them out at the end of the procedure. TURP is the most common surgery for benign prostatic hyperplasia and considered the gold standard for treating blockage of the urethra due to benign prostatic hyperplasia.
Laser surgery. With this surgery, a urologist uses a high-energy laser to destroy prostate tissue. The urologist uses a cystoscope to pass a laser fiber through the urethra into the prostate. The laser destroys the enlarged tissue. The risk of bleeding is lower than in TURP and TUIP because the laser seals blood vessels as it cuts through the prostate tissue. However, laser surgery may not effectively treat greatly enlarged prostates.
Open prostatectomy. In an open prostatectomy, a urologist makes an incision, or cut, through the skin to reach the prostate. The urologist can remove all or part of the prostate through the incision. This surgery is used most often when the prostate is greatly enlarged, complications occur, or the bladder is damaged and needs repair. Open prostatectomy requires general anesthesia, a longer hospital stay than other surgical procedures for benign prostatic hyperplasia, and a longer rehabilitation period. The three open prostatectomy procedures are retropubic prostatectomy, suprapubic prostatectomy, and perineal prostatectomy. The recovery period for open prostatectomy is different for each man who undergoes the procedure. However, it typically takes anywhere from 3 to 6 weeks.4
TUIP. A TUIP is a surgical procedure to widen the urethra. During a TUIP, the urologist inserts a cystoscope and an instrument that uses an electric current or a laser beam through the urethra to reach the prostate. The urologist widens the urethra by making a few small cuts in the prostate and in the bladder neck. Some urologists believe that TUIP gives the same relief as TURP except with less risk of side effects.
After surgery, the prostate, urethra, and surrounding tissues may be irritated and swollen, causing urinary retention. To prevent urinary retention, a urologist inserts a Foley catheter so urine can drain freely out of the bladder. A Foley catheter has a balloon on the end that the urologist inserts into the bladder. Once the balloon is inside the bladder, the urologist fills it with sterile water to keep the catheter in place. Men who undergo minimally invasive procedures may not need a Foley catheter.
The Foley catheter most often remains in place for several days. Sometimes, the Foley catheter causes recurring, painful, difficult-to-control bladder spasms the day after surgery. However, these spasms will eventually stop. A urologist may prescribe medications to relax bladder muscles and prevent bladder spasms. These medications include
- oxybutynin chloride (Ditropan) - solifenacin (VESIcare) - darifenacin (Enablex) - tolterodine (Detrol) - hyoscyamine (Levsin) - propantheline bromide (Pro-Banthine)
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10
] |
How many people are affected by androgenetic alopecia ?
|
Androgenetic alopecia is a frequent cause of hair loss in both men and women. This form of hair loss affects an estimated 50 million men and 30 million women in the United States. Androgenetic alopecia can start as early as a person's teens and risk increases with age; more than 50 percent of men over age 50 have some degree of hair loss. In women, hair loss is most likely after menopause.
|
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] |
What is (are) beta thalassemia ?
|
Beta thalassemia is a blood disorder that reduces the production of hemoglobin. Hemoglobin is the iron-containing protein in red blood cells that carries oxygen to cells throughout the body. In people with beta thalassemia, low levels of hemoglobin lead to a lack of oxygen in many parts of the body. Affected individuals also have a shortage of red blood cells (anemia), which can cause pale skin, weakness, fatigue, and more serious complications. People with beta thalassemia are at an increased risk of developing abnormal blood clots. Beta thalassemia is classified into two types depending on the severity of symptoms: thalassemia major (also known as Cooley's anemia) and thalassemia intermedia. Of the two types, thalassemia major is more severe. The signs and symptoms of thalassemia major appear within the first 2 years of life. Children develop life-threatening anemia. They do not gain weight and grow at the expected rate (failure to thrive) and may develop yellowing of the skin and whites of the eyes (jaundice). Affected individuals may have an enlarged spleen, liver, and heart, and their bones may be misshapen. Some adolescents with thalassemia major experience delayed puberty. Many people with thalassemia major have such severe symptoms that they need frequent blood transfusions to replenish their red blood cell supply. Over time, an influx of iron-containing hemoglobin from chronic blood transfusions can lead to a buildup of iron in the body, resulting in liver, heart, and hormone problems. Thalassemia intermedia is milder than thalassemia major. The signs and symptoms of thalassemia intermedia appear in early childhood or later in life. Affected individuals have mild to moderate anemia and may also have slow growth and bone abnormalities.
|
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What causes Ehlers-Danlos syndrome, kyphoscoliosis type ?
|
What causes Ehlers-Danlos syndrome, kyphoscoliosis type? Ehlers-Danlos syndrome (EDS), kyphoscoliosis type is caused by changes (mutations) in the PLOD1 gene. This gene encodes an enzyme that helps process molecules which allow collagen to form stable interactions with one another. Collagen is a protein that provides structure and strength to connective tissues throughout the body. Mutations in the PLOD1 gene lead to reduced levels of functional enzyme which disrupt networks of collagen throughout the body. This weakens the connective tissues and leads to the characteristic signs and symptoms associated with EDS, kyphoscoliosis type.
|
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What is (are) Pigment-dispersion syndrome ?
|
Pigment-dispersion syndrome is an eye disorder that occurs when pigment granules that normally adhere to the back of the iris (the colored part of the eye) flake off into the clear fluid produced by the eye (aqueous humor). These pigment granules may flow towards the drainage canals of the eye, slowly clogging them and raising the pressure within the eye (intraocular pressure or IOP). This rise in eye pressure can cause damage to the optic nerve (the nerve in the back of the eye that carries visual images to the brain). If the optic nerve becomes damaged, pigment-dispersion syndrome becomes pigmentary glaucoma. This happens in about 30% of cases. Pigment-dispersion syndrome commonly presents between the second and fourth decades, which is earlier than other types of glaucoma. While men and women are affected in equal numbers, men develop pigmentary glaucoma up to 3 times more often than women. Myopia (nearsightedness) appears to be an important risk factor in the development of pigment-dispersion syndrome and is present in up to 80% of affected individuals. The condition may be sporadic or follow an autosomal dominant pattern of inheritance with reduced penetrance . At least one gene locus on chromosome 7 has been identified. Pigment-dispersion syndrome can be treated with eye drops or other medications. In some cases, laser surgery may be performed.
|
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Is GLUT1 deficiency syndrome inherited ?
|
This condition is usually inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. About 90 percent of cases of GLUT1 deficiency syndrome result from new mutations in the gene. These cases occur in people with no history of the disorder in their family. In other cases, an affected person inherits the mutation from an affected parent. In a small number of families, GLUT1 deficiency syndrome is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
|
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What are the genetic changes related to myotonic dystrophy ?
|
Myotonic dystrophy type 1 is caused by mutations in the DMPK gene, while type 2 results from mutations in the CNBP gene. The specific functions of these genes are unclear. The protein produced from the DMPK gene may play a role in communication within cells. It appears to be important for the correct functioning of cells in the heart, brain, and skeletal muscles (which are used for movement). The protein produced from the CNBP gene is found primarily in the heart and in skeletal muscles, where it probably helps regulate the function of other genes. Similar changes in the structure of the DMPK and CNBP genes cause the two forms of myotonic dystrophy. In each case, a segment of DNA is abnormally repeated many times, forming an unstable region in the gene. The mutated gene produces an expanded version of messenger RNA, which is a molecular blueprint of the gene that is normally used to guide the production of proteins. The abnormally long messenger RNA forms clumps inside the cell that interfere with the production of many other proteins. These changes prevent muscle cells and cells in other tissues from functioning normally, which leads to the signs and symptoms of myotonic dystrophy.
|
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What are the symptoms of Autoimmune autonomic ganglionopathy ?
|
What are the signs and symptoms of autoimmune autonomic ganglionopathy? The symptoms of autoimmune autonomic ganglionopathy can include: Severe orthostatic hypotension (low blood pressure upon standing) that persists for weeks to years Fainting Constipation and gastrointestinal dysmotility (a condition in which the muscles and nerves of the digestive system do not move food through the digestive tract efficiently) Urinary retention Fixed and dilated pupils Dry mouth and eyes Some people with autoimmune autonomic ganglionopathy present with POTS-like symptoms.
|
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What are the symptoms of Zori Stalker Williams syndrome ?
|
What are the signs and symptoms of Zori Stalker Williams syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Zori Stalker Williams 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) Cognitive impairment 90% Short stature 90% Broad forehead 50% Macrocephaly 50% Depressed nasal bridge 7.5% Frontal bossing 7.5% Hypoplasia of the zygomatic bone 7.5% Hypoplastic toenails 7.5% Muscular hypotonia 7.5% Pectus excavatum 7.5% Prominent supraorbital ridges 7.5% Short nose 7.5% Autosomal dominant inheritance - Hypoplasia of midface - Malar flattening - Nail dysplasia - Prominent forehead - Relative macrocephaly - 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 Hairy Cell Leukemia ?
|
Key Points
- There are different types of treatment for patients with hairy cell leukemia. - Five types of standard treatment are used: - Watchful waiting - Chemotherapy - Biologic therapy - Surgery - Targeted therapy - 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 hairy cell leukemia.
Different types of treatment are available for patients with hairy cell leukemia. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Patients may want to think about taking part in a clinical trial. Some clinical trials are open only to patients who have not started treatment.
Five types of standard treatment are used:
Watchful waiting Watchful waiting is closely monitoring a patient's condition, without giving any treatment until signs or symptoms appear or change. 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. Cladribine and pentostatin are anticancer drugs commonly used to treat hairy cell leukemia. These drugs may increase the risk of other types of cancer, especially Hodgkin lymphoma and non-Hodgkin lymphoma. Long-term follow up for second cancers is very important. Biologic therapy Biologic therapy is a cancer treatment that uses the patients immune system to fight cancer. Substances made by the body or made in a laboratory are used to boost, direct, or restore the bodys natural defenses against cancer. This type of cancer treatment is also called biotherapy or immunotherapy. Interferon alfa is a biologic agent commonly used to treat hairy cell leukemia. See Drugs Approved for Hairy Cell Leukemia for more information. Surgery Splenectomy is a surgical procedure to remove the spleen. Targeted therapy Targeted therapy is a treatment that uses drugs or other substances to identify and attack specific cancer cells without harming normal cells. Monoclonal antibody therapy is a type of targeted therapy used to treat hairy cell leukemia. Monoclonal antibody therapy uses antibodies made in the laboratory from a single type of immune system cell. These antibodies can identify substances on cancer cells or normal substances that may help cancer cells grow. The antibodies attach to the substances and kill the cancer cells, block their growth, or keep them from spreading. Monoclonal antibodies are given by infusion. They may be used alone or to carry drugs, toxins, or radioactive material directly to cancer cells. A monoclonal antibody called rituximab may be used for certain patients with hairy cell leukemia. Other types of targeted therapies are being studied.
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.
Treatment Options for Hairy Cell Leukemia
Untreated Hairy Cell Leukemia
If the patient's blood cell counts are not too low and there are no signs or symptoms, treatment may not be needed and the patient is carefully watched for changes in his or her condition. If blood cell counts become too low or if signs or symptoms appear, initial treatment may include the following: - Chemotherapy. - Splenectomy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with untreated hairy cell leukemia. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.
Progressive Hairy Cell Leukemia
Treatment for progressive hairy cell leukemia may include the following: - Chemotherapy. - Biologic therapy. - Splenectomy. - A clinical trial of chemotherapy and targeted therapy with a monoclonal antibody (rituximab). Check the list of NCI-supported cancer clinical trials that are now accepting patients with progressive hairy cell leukemia, initial treatment. 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.
Relapsed or Refractory Hairy Cell Leukemia
Treatment of relapsed or refractory hairy cell leukemia may include the following: - Chemotherapy. - Biologic therapy. - Targeted therapy with a monoclonal antibody (rituximab). - High-dose chemotherapy. - A clinical trial of a new biologic therapy. - A clinical trial of a new targeted therapy. - A clinical trial of chemotherapy and targeted therapy with a monoclonal antibody (rituximab). Check the list of NCI-supported cancer clinical trials that are now accepting patients with refractory hairy cell leukemia. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.
|
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] |
What are the symptoms of Cataracts, ataxia, short stature, and mental retardation ?
|
What are the signs and symptoms of Cataracts, ataxia, short stature, and mental retardation? The Human Phenotype Ontology provides the following list of signs and symptoms for Cataracts, ataxia, short stature, and mental retardation. 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) Ataxia - Dysarthria - Intellectual disability - Muscle weakness - Muscular hypotonia - Posterior subcapsular cataract - Postural tremor - Short stature - 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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] |
How many people are affected by spina bifida ?
|
Spina bifida is one of the most common types of neural tube defect, affecting an estimated 1 in 2,500 newborns worldwide. For unknown reasons, the prevalence of spina bifida varies among different geographic regions and ethnic groups. In the United States, this condition occurs more frequently in Hispanics and non-Hispanic whites than in African Americans.
|
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] |
What are the treatments for Hemochromatosis ?
|
Treatments for hemochromatosis include therapeutic phlebotomy (fleh-BOT-o-me), iron chelation (ke-LAY-shun) therapy, dietary changes, and treatment for complications.
The goals of treating hemochromatosis include:
Reducing the amount of iron in your body to normal levels
Preventing or delaying organ damage from iron overload
Treating complications of the disease
Maintaining a normal amount of iron in your body for the rest of your life
Therapeutic Phlebotomy
Therapeutic phlebotomy is a procedure that removes blood (and iron) from your body. A needle is inserted into a vein, and your blood flows through an airtight tube into a sterile container or bag.
The process is similar to donating blood; it can be done at blood donation centers, hospital donation centers, or a doctor's office.
In the first stage of treatment, about 1 pint of blood is removed once or twice a week. After your iron levels return to normal, you may continue phlebotomy treatments. However, you may need them less oftentypically every 24 months.
As long as treatment continues, which often is for the rest of your life, you'll need frequent blood tests to check your iron levels.
Iron Chelation Therapy
Iron chelation therapy uses medicine to remove excess iron from your body. This treatment is a good option for people who can't have routine blood removal.
The medicine used in iron chelation therapy is either injected or taken orally (by mouth). Injected iron chelation therapy is done at a doctor's office. Oral iron chelation therapy can be done at home.
Dietary Changes
Your doctor may suggest that you change your diet if you have hemochromatosis. You may be advised to:
Avoid taking iron, including iron pills, iron injections, or multivitamins that contain iron.
Limit your intake of vitamin C. Vitamin C helps your body absorb iron from food. Talk with your doctor about how much vitamin C is safe for you.
Avoid uncooked fish and shellfish. Some fish and shellfish contain bacteria that can cause infections in people who have chronic diseases, such as hemochromatosis.
Limit alcohol intake. Drinking alcohol increases the risk of liver disease. It also can make existing liver disease worse.
Treatment for Complications
Your doctor may prescribe other treatments as needed for complications such as liver disease, heart problems, or diabetes.
|
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What is (are) Erythropoietic protoporphyria ?
|
Erythropoietic protoporphyria is a type of porphyria. Porphyrias are caused by an abnormality in the heme production process. Heme is essential in enabling our blood cells to carry oxygen and in breaking down chemical compounds in the liver. Erythropoietic protoporphyria is caused by impaired activity of ferrocheletase (FECH), an important enzyme in heme production. This results in the build-up of protoporphyrin in the bone marrow, red blood cells, blood plasma, skin, and eventually liver. Build up of protoporphyrin can cause extreme sensitivity to sunlight, liver damage, abdominal pain, gallstones, and enlargement of the spleen.
|
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What are the treatments for congenital contractural arachnodactyly ?
|
These resources address the diagnosis or management of congenital contractural arachnodactyly: - Gene Review: Gene Review: Congenital Contractural Arachnodactyly - Genetic Testing Registry: Congenital contractural arachnodactyly - MedlinePlus Encyclopedia: Arachnodactyly - MedlinePlus Encyclopedia: Contracture Deformity - MedlinePlus Encyclopedia: Skeletal Limb Abnormalities 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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How to diagnose Reticulohistiocytoma ?
|
How is reticulohistiocytoma diagnosed? The diagnosis of reticulohistiocytoma (RH) is made based on clinical presentation, histology, and immunohistochemistry profile. RH occur in isolation and are typically described as small, yellow to reddish-born nodules. The lesions usually are slightly elevated from the surrounding skin. Detailed information on histology of reticulohistiocytoma is available through DermNet NZ, an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. There are several differential diagnoses for RH. It is important to distinguish RH from Rosai-Dorfman disease, juvenile xanthogranuloma, a variety of granulomatous conditions, and some malignant neoplasms, including histiocytic sarcoma, melanoma, and epithelioid sarcoma. Reticulohistiocytoma should also be distinguished from multicentric reticulohistiocytosis.
|
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What is (are) Low Blood Pressure ?
|
You've probably heard that high blood pressure is a problem. Sometimes blood pressure that is too low can also cause problems. Blood pressure is the force of your blood pushing against the walls of your arteries. Each time your heart beats, it pumps out blood into the arteries. Your blood pressure is highest when your heart beats, pumping the blood. This is called systolic pressure. When your heart is at rest, between beats, your blood pressure falls. This is the diastolic pressure. Your blood pressure reading uses these two numbers. Usually they're written one above or before the other, such as 120/80. If your blood pressure reading is 90/60 or lower, you have low blood pressure. Some people have low blood pressure all the time. They have no symptoms and their low readings are normal for them. In other people, blood pressure drops below normal because of a medical condition or certain medicines. Some people may have symptoms of low blood pressure when standing up too quickly. Low blood pressure is a problem only if it causes dizziness, fainting or in extreme cases, shock. NIH: National Heart, Lung, and Blood Institute
|
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What is (are) Parasitic Diseases ?
|
Parasites are living things that use other living things - like your body - for food and a place to live. You can get them from contaminated food or water, a bug bite, or sexual contact. Some parasitic diseases are easily treated and some are not. Parasites range in size from tiny, one-celled organisms called protozoa to worms that can be seen with the naked eye. Some parasitic diseases occur in the United States. Contaminated water supplies can lead to Giardia infections. Cats can transmit toxoplasmosis, which is dangerous for pregnant women. Others, like malaria, are common in other parts of the world. If you are traveling, it's important to drink only water you know is safe. Prevention is especially important. There are no vaccines for parasitic diseases. Some medicines are available to treat parasitic infections.
|
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What are the genetic changes related to neuroferritinopathy ?
|
Mutations in the FTL gene cause neuroferritinopathy. The FTL gene provides instructions for making the ferritin light chain, which is one part (subunit) of a protein called ferritin. Ferritin stores and releases iron in cells. Each ferritin molecule can hold as many as 4,500 iron atoms. This storage capacity allows ferritin to regulate the amount of iron in the cells and tissues. Mutations in the FTL gene that cause neuroferritinopathy are believed to reduce ferritin's ability to store iron, resulting in the release of excess iron in nerve cells (neurons) of the brain. The cells may respond by producing more ferritin in an attempt to handle the free iron. Excess iron and ferritin accumulate in the brain, particularly in the basal ganglia, resulting in the movement problems and other neurological changes seen in neuroferritinopathy.
|
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What is (are) Prostate Cancer ?
|
Key Points
- Prostate cancer is a disease in which malignant (cancer) cells form in the tissues of the prostate. - Prostate cancer is the second most common cancer among men in the United States.
Prostate cancer is a disease in which malignant (cancer) cells form in the tissues of the prostate.
The prostate is a gland in the male reproductive system. The prostate is just below the bladder (the organ that collects and empties urine) and in front of the rectum (the lower part of the intestine). It is about the size of a walnut and surrounds part of the urethra (the tube that empties urine from the bladder). The prostate gland produces fluid that makes up part of the semen. As men age, the prostate may get bigger. A bigger prostate may block the flow of urine from the bladder and cause problems with sexual function. This condition is called benign prostatic hyperplasia (BPH). BPH is not cancer, but surgery may be needed to correct it. The symptoms of BPH or of other problems in the prostate may be like symptoms of prostate cancer.
|
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What are the symptoms of Spondylospinal thoracic dysostosis ?
|
What are the signs and symptoms of Spondylospinal thoracic dysostosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondylospinal thoracic dysostosis. 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) Hypoplasia of the maxilla - Multiple pterygia - Pulmonary hypoplasia - Short thorax - 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 Spondyloepimetaphyseal dysplasia joint laxity ?
|
What are the signs and symptoms of Spondyloepimetaphyseal dysplasia joint laxity? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondyloepimetaphyseal dysplasia joint laxity. 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 bone mineral density 90% Abnormality of the metaphyses 90% Blue sclerae 90% Brachydactyly syndrome 90% Elbow dislocation 90% Hyperextensible skin 90% Joint hypermobility 90% Kyphosis 90% Long philtrum 90% Micromelia 90% Platyspondyly 90% Proptosis 90% Scoliosis 90% Short stature 90% Short toe 90% Talipes 90% Genu valgum 80% Abnormal vertebral ossification 50% Cleft palate 50% Hyperlordosis 50% High palate 12% Abnormality of the cardiac septa 7.5% Aganglionic megacolon 7.5% Cognitive impairment 7.5% Ectopia lentis 7.5% Exostoses 7.5% Myopia 7.5% Carpal synostosis 5% 11 pairs of ribs - Advanced ossification of carpal bones - Atria septal defect - Autosomal recessive inheritance - Bicuspid aortic valve - Broad distal phalanx of finger - Congenital myopia - Coxa valga - Cupped ribs - Decreased body weight - Delayed proximal femoral epiphyseal ossification - Dislocated radial head - Flared iliac wings - Flared metaphysis - Flaring of rib cage - Flat face - Flat midface - Flexion contracture - Fragile skin - Hallux valgus - Hip dislocation - Hip Subluxation - Hypoplastic iliac body - Irregular vertebral endplates - Joint laxity - Kyphoscoliosis - Large iliac wings - Long upper lip - Malar flattening - Mitral regurgitation - Muscular hypotonia - Osteoporosis - Oval face - Ovoid vertebral bodies - Paraplegia - Pathologic fracture - Pes planus - Prominent forehead - Radial bowing - Radial head subluxation - Severe short stature - Short femoral neck - Short long bone - Short metacarpal - Short nail - Short neck - Slender long bone - Soft, doughy skin - Sparse scalp hair - Spinal cord compression - Spondyloepimetaphyseal dysplasia - Talipes equinovarus - Ventricular septal defect - 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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] |
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