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What are the symptoms of Male Breast Cancer ?

Men with breast cancer usually have lumps that can be felt.Lumps and other signs may be caused by male breast cancer or by other conditions. Check with your doctor if you notice a change in your breasts.

What is the outlook for Wilson Disease ?

Early onset of the disease may foretell a worse prognosis than later onset. If the disorder is detected early and treated appropriately, an individual with WD can usually enjoy normal health and a normal lifespan. If not treated, however, WD can cause brain damage, liver failure, and death. The disease requires lifelong treatment.

What are the symptoms of Amyloidosis familial visceral ?

What are the signs and symptoms of Amyloidosis familial visceral? The Human Phenotype Ontology provides the following list of signs and symptoms for Amyloidosis familial visceral. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Cholestasis - Edema - Generalized amyloid deposition - Hematuria - Hepatomegaly - Hypertension - Nephropathy - Nephrotic syndrome - Proteinuria - Skin rash - Splenomegaly - 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.

What is (are) Fibromuscular Dysplasia ?

Fibromuscular dysplasia (FMD) is the abnormal development or growth of cells in the walls of arteries that can cause the vessels to narrow or bulge. The carotid arteries, which pass through the neck and supply blood to the brain, are commonly affected. Arteries within the brain and kidneys can also be affected. A characteristic string of beads pattern caused by the alternating narrowing and enlarging of the artery can block or reduce blood flow to the brain, causing a stroke or mini-stroke. Some patients experience no symptoms of the disease while others may have high blood pressure, dizziness or vertigo, chronic headache, intracranial aneurysm, ringing in the ears, weakness or numbness in the face, neck pain, or changes in vision. FMD is most often seen in persons age 25 to 50 years and affects women more often than men. More than one family member may be affected by the disease. The cause of FMD is unknown. An angiogram can detect the degree of narrowing or obstruction of the artery and identify changes such as a tear (dissection) or weak area (aneurysm) in the vessel wall. FMD can also be diagnosed using computed tomography, magnetic resonance imaging, or ultrasound.

How to diagnose Small Cell Lung Cancer ?

Tests and procedures that examine the lungs are used to detect (find), diagnose, and stage small cell lung cancer. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits, including smoking, and past jobs, illnesses, and treatments will also be taken. - Laboratory tests : Medical procedures that test samples of tissue, blood, urine, or other substances in the body. These tests help to diagnose disease, plan and check treatment, or monitor the disease over time. - 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 brain, chest, and abdomen : 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. - Sputum cytology : A microscope is used to check for cancer cells in the sputum (mucus coughed up from the lungs). - Biopsy : The removal of cells or tissues so they can be viewed under a microscope by a pathologist to check for signs of cancer. The different ways a biopsy can be done include the following: - Fine-needle aspiration (FNA) biopsy of the lung: The removal of tissue or fluid from the lung, using a thin needle. A CT scan, ultrasound, or other imaging procedure is used to find the abnormal tissue or fluid in the lung. A small incision may be made in the skin where the biopsy needle is inserted into the abnormal tissue or fluid. A sample is removed with the needle and sent to the laboratory. A pathologist then views the sample under a microscope to look for cancer cells. A chest x-ray is done after the procedure to make sure no air is leaking from the lung into the chest. - Bronchoscopy : A procedure to look inside the trachea and large airways in the lung for abnormal areas. A bronchoscope is inserted through the nose or mouth into the trachea and lungs. A bronchoscope is a thin, tube-like instrument with a light and a lens for viewing. It may also have a tool to remove tissue samples, which are checked under a microscope for signs of cancer. - Thoracoscopy : A surgical procedure to look at the organs inside the chest to check for abnormal areas. An incision (cut) is made between two ribs, and a thoracoscope is inserted into the chest. A thoracoscope is a thin, tube-like instrument with a light and a lens for viewing. It may also have a tool to remove tissue or lymph node samples, which are checked under a microscope for signs of cancer. In some cases, this procedure is used to remove part of the esophagus or lung. If certain tissues, organs, or lymph nodes cant be reached, a thoracotomy may be done. In this procedure, a larger incision is made between the ribs and the chest is opened. - Thoracentesis : The removal of fluid from the space between the lining of the chest and the lung, using a needle. A pathologist views the fluid under a microscope to look for cancer cells. - Mediastinoscopy : A surgical procedure to look at the organs, tissues, and lymph nodes between the lungs for abnormal areas. An incision (cut) is made at the top of the breastbone and a mediastinoscope is inserted into the chest. A mediastinoscope is a thin, tube-like instrument with a light and a lens for viewing. It may also have a tool to remove tissue or lymph node samples, which are checked under a microscope for signs of cancer. - Light and electron microscopy : A laboratory test in which cells in a sample of tissue are viewed under regular and high-powered microscopes to look for certain changes in the cells. - Immunohistochemistry : A test that uses antibodies to check for certain antigens in a sample of tissue. The antibody is usually linked to a radioactive substance or a dye that causes the tissue to light up under a microscope. This type of test may be used to tell the difference between different types of cancer.

What are the symptoms of Cold urticaria ?

What are the signs and symptoms of cold urticaria? The signs and symptoms of cold urticaria and the severity of the condition vary. Affected people generally develop reddish, itchy welts (hives) and/or swelling when skin is exposed to the cold (i.e. cold weather or swimming in cold water). This rash is usually apparent within 2-5 minutes after exposure and lasts for 1-2 hours. Other signs and symptoms may include: Headache Anxiety Tiredness Fainting Heart palpitations Wheezing Joint pain Low blood pressure In very severe cases, exposure to cold could lead to loss of consciousness, shock or even death.

What are the symptoms of Femur fibula ulna syndrome ?

What are the signs and symptoms of Femur fibula ulna syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Femur fibula ulna syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the femur 90% Abnormality of the ulna 90% Aplasia/Hypoplasia of the radius 90% Finger syndactyly 90% Micromelia 90% Split hand 90% Abnormality of the elbow 50% Short stature 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.

What are the symptoms of Dentatorubral-pallidoluysian atrophy ?

What are the signs and symptoms of Dentatorubral-pallidoluysian atrophy? The signs and symptoms of DRPLA differ somewhat between affected children and adults. When DRPLA appears before age 20, it most often involves episodes of involuntary muscle jerking or twitching (myoclonus); seizures; behavioral changes; intellectual disability; and problems with balance and coordination (ataxia). Epileptic seizures occur in all individuals with onset before 20 years of age. When DRPLA begins after age 20, the most frequent signs and symptoms are ataxia; uncontrollable movements of the limbs (choreoathetosis); psychiatric symptoms such as delusions; and deterioration of intellectual function (dementia). Seizures are less frequent in individuals with onset between the ages of 20 and 40. Seizures are rare in individuals with onset after age 40. Individuals who have inherited the condition from an affected parent typically have symptoms 26 to 29 years earlier than affected fathers, and 14 to 15 years earlier than affected mothers. The Human Phenotype Ontology provides the following list of signs and symptoms for Dentatorubral-pallidoluysian atrophy. 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) Atrophy of the dentate nucleus 90% Fetal cystic hygroma 90% Ataxia 25/25 Dementia 14/25 Seizures 12/25 Nystagmus 9/25 Chorea 7/25 Myoclonus 6/25 Abnormal pyramidal signs 5/25 Autosomal dominant inheritance - Choreoathetosis - Genetic anticipation - 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.

How many people are affected by hypercholesterolemia ?

More than 34 million American adults have elevated blood cholesterol levels (higher than 240 mg/dL). Inherited forms of hypercholesterolemia, which cause even higher levels of cholesterol, occur less frequently. The most common inherited form of high cholesterol is called familial hypercholesterolemia. This condition affects about 1 in 500 people in most countries. Familial hypercholesterolemia occurs more frequently in certain populations, including Afrikaners in South Africa, French Canadians, Lebanese, and Finns.

What is (are) desmoid tumor ?

A desmoid tumor is an abnormal growth that arises from connective tissue, which is the tissue that provides strength and flexibility to structures such as bones, ligaments, and muscles. Typically, a single tumor develops, although some people have multiple tumors. The tumors can occur anywhere in the body. Tumors that form in the abdominal wall are called abdominal desmoid tumors; those that arise from the tissue that connects the abdominal organs are called intra-abdominal desmoid tumors; and tumors found in other regions of the body are called extra-abdominal desmoid tumors. Extra-abdominal tumors occur most often in the shoulders, upper arms, and upper legs. Desmoid tumors are fibrous, much like scar tissue. They are generally not considered cancerous (malignant) because they do not spread to other parts of the body (metastasize); however, they can aggressively invade the surrounding tissue and can be very difficult to remove surgically. These tumors often recur, even after apparently complete removal. The most common symptom of desmoid tumors is pain. Other signs and symptoms, which are often caused by growth of the tumor into surrounding tissue, vary based on the size and location of the tumor. Intra-abdominal desmoid tumors can block the bowel, causing constipation. Extra-abdominal desmoid tumors can restrict the movement of affected joints and cause limping or difficulty moving the arms or legs. Desmoid tumors occur frequently in people with an inherited form of colon cancer called familial adenomatous polyposis (FAP). These individuals typically develop intra-abdominal desmoid tumors in addition to abnormal growths (called polyps) and cancerous tumors in the colon. Desmoid tumors that are not part of an inherited condition are described as sporadic.

What is (are) Diffuse gastric cancer ?

Diffuse gastric cancer or signet ring cell cancer is a type of cancer found most often in the glandular cells lining the stomach, but can also develop in the bowel, breast, pancreas, bladder, prostate or lung. The 2010 WHO (World Health Organization) classification recognizes four major histologic patterns of gastric cancers: tubular, papillary, mucinous and poorly cohesive (including signet ring cell carcinoma), plus uncommon histologic variants. The term "signet ring cell" is often used because the cells look like signet rings when viewed under a microscope. The signet cells are a type of epithelial cell. Epithelial tissue is skin tissue, covering and lining the body both inside and out. When diffuse gastric cancer is inherited it is called "hereditary diffuse gastric cancer." Treatment depends on the stage at which the cancer is found and may include chemotherapy, radiation therapy, or operations to remove the stomach (gastrectomy).

Is 5q minus syndrome inherited ?

This condition is generally not inherited but arises from a mutation in the body's cells that occurs after conception. This alteration is called a somatic mutation. Affected people typically have no history of the disorder in their family.

What is (are) Genital Warts ?

Genital warts are a sexually transmitted disease (STD) caused by the human papillomavirus (HPV). The warts are soft, moist, pink, or flesh-colored bumps. You can have one or many of these bumps. In women, the warts usually occur in or around the vagina, on the cervix or around the anus. In men, genital warts are less common but might occur on the tip of the penis. You can get genital warts during oral, vaginal, or anal sex with an infected partner. Correct usage of latex condoms greatly reduces, but does not completely eliminate, the risk of catching or spreading HPV. HPV vaccines may help prevent some of the HPV infections that cause genital warts. Your health care provider usually diagnoses genital warts by seeing them. The warts might disappear on their own. If not, your health care provider can treat or remove them. The virus stays in your body even after treatment, so warts can come back. NIH: National Institute of Allergy and Infectious Diseases

What are the genetic changes related to 3-methylcrotonyl-CoA carboxylase deficiency ?

Mutations in the MCCC1 or MCCC2 gene can cause 3-MCC deficiency. These two genes provide instructions for making different parts (subunits) of an enzyme called 3-methylcrotonyl-coenzyme A carboxylase (3-MCC). This enzyme plays a critical role in breaking down proteins obtained from the diet. Specifically, 3-MCC is responsible for the fourth step in processing leucine, an amino acid that is part of many proteins. Mutations in the MCCC1 or MCCC2 gene reduce or eliminate the activity of 3-MCC, preventing the body from processing leucine properly. As a result, toxic byproducts of leucine processing build up to harmful levels, which can damage the brain. This damage underlies the signs and symptoms of 3-MCC deficiency.

What causes Primary Biliary Cirrhosis ?

The causes of primary biliary cirrhosis are unknown. Most research suggests it is an autoimmune disease. The immune system protects people from infection by identifying and destroying bacteria, viruses, and other potentially harmful foreign substances. An autoimmune disease is a disorder in which the bodys immune system attacks the bodys own cells and organs. In primary biliary cirrhosis, the immune system attacks the small bile ducts in the liver. Genetics, or inherited genes, can make a person more likely to develop primary biliary cirrhosis. Primary biliary cirrhosis is more common in people who have a parent or siblingparticularly an identical twinwith the disease. In people who are genetically more likely to develop primary biliary cirrhosis, environmental factors may trigger or worsen the disease, including - exposure to toxic chemicals - smoking - infections Genetics can also make some people more likely to develop other autoimmune diseases, such as - autoimmune hepatitis, a disease in which the bodys immune system attacks liver cells - Sjgrens syndrome, a condition in which the immune system attacks the glands that produce tears and saliva - autoimmune thyroid dysfunctions, conditions in which the immune system attacks the thyroid gland

What causes Bronchitis ?

Acute Bronchitis Infections or lung irritants cause acute bronchitis. The same viruses that cause colds and the flu are the most common cause of acute bronchitis. Sometimes bacteria can cause the condition. Certain substances can irritate your lungs and airways and raise your risk for acute bronchitis. For example, inhaling or being exposed to tobacco smoke, dust, fumes, vapors, or air pollution raises your risk for the condition. These lung irritants also can make symptoms worse. Being exposed to a high level of dust or fumes, such as from an explosion or a big fire, also may lead to acute bronchitis. Chronic Bronchitis Repeatedly breathing in fumes that irritate and damage lung and airway tissues causes chronic bronchitis. Smoking is the major cause of the condition. Breathing in air pollution and dust or fumes from the environment or workplace also can lead to chronic bronchitis. People who have chronic bronchitis go through periods when symptoms become much worse than usual. During these times, they also may have acute viral or bacterial bronchitis.

What is (are) Shingles ?

Shingles (herpes zoster) is an outbreak of rash or blisters on the skin that is caused by the same virus that causes chickenpox the varicella-zoster virus. The first sign of shingles is often burning or tingling pain (which can be severe), or sometimes numbness or itch,generally on one side of the body. After several days or a week, a rash of fluid-filled blisters, similar to chickenpox, appears in one area on one side of the body. Shingles pain can be mild or intense. Some people have mostly itching; some feel pain from the gentlest touch or breeze. The most common location for shingles is a band, called a dermatome, spanning one side of the trunk around the waistline. Anyone who has had chickenpox is at risk for shingles. Scientists think that some of the virus particles from the original exposure to the varicella-zoster virus,leave the skin blisters and move into the nervous system. When the varicella-zoster virus reactivates, the virus moves back down the long nerve fibers that extend from the sensory cell bodies to the skin. The viruses multiply, the tell-tale rash erupts, and the person now has shingles.

Is neurofibromatosis type 1 inherited ?

Neurofibromatosis type 1 is considered to have an autosomal dominant pattern of inheritance. People with this condition are born with one mutated copy of the NF1 gene in each cell. In about half of cases, the altered gene is inherited from an affected parent. The remaining cases result from new mutations in the NF1 gene and occur in people with no history of the disorder in their family. Unlike most other autosomal dominant conditions, in which one altered copy of a gene in each cell is sufficient to cause the disorder, two copies of the NF1 gene must be altered to trigger tumor formation in neurofibromatosis type 1. A mutation in the second copy of the NF1 gene occurs during a person's lifetime in specialized cells surrounding nerves. Almost everyone who is born with one NF1 mutation acquires a second mutation in many cells and develops the tumors characteristic of neurofibromatosis type 1.

What are the treatments for Polycythemia vera ?

What treatments are available for itching related to polycythemia vera? There are several treatments for the itching (pruritus) related to polycythemia vera (PV). No single treatment has been found to be effective for all affected individuals. For mild cases, treatment may include avoiding triggers of itching and dry skin, or controlling the temperature of the environment and bathing water. Several other treatments are available for more severe itching or for itching the does not respond to initial treatments. Interferon-alpha has been found to be effective for reducing itching in a majority of individual with PV who received this therapy; however, this medication can have significant side effects. Selective serotonin reuptake inhibitors (SSRIs), typically used to treat depression, may reducing itching for some individuals with PV.. Phototherapy, antihistamines, and phlebotomy have also been attempted, with mixed results. Additionally, if a genetic cause of polycythemia vera is know, medications targeted to the causative gene - such as JAK or mTor inhibitors - may be helpful in reducing itching.

What is (are) Pineal cyst ?

Pineal cysts are cysts of the pineal gland which is a small organ in the brain that produces melatonin (a sleep-regulating hormone). Pineal cysts are relatively common and may be found by chance in up to 10% of people undergoing CT or MRI brain imaging. The exact cause of pineal cysts is unknown. Most people with pineal cysts do not have any signs or symptoms. Rarely, a pineal cyst may cause headaches, hydrocephalus, eye movement abnormalities, and Parinaud syndrome. Treatment is usually only considered when a cyst is causing symptoms, in which case surgery, stereotactic aspiration or endoscopic treatment may be recommended.

What are the treatments for cartilage-hair hypoplasia ?

These resources address the diagnosis or management of cartilage-hair hypoplasia: - Gene Review: Gene Review: Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum Disorders - Genetic Testing Registry: Metaphyseal chondrodysplasia, McKusick type 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

What causes Uncombable hair syndrome ?

What causes uncombable hair syndrome? The stiffness of the hair in uncombable hair syndrome (UHS) is likely due to the triangular shape of the hair shaft that is seen in cross section in affected people. It has been suggested that the condition may result from premature keratinization (development of keratin) of the inner root sheath, which forms the channel for the growing hair. The inner root sheath conforms in configuration to the abnormal outline of the hair shaft. It thus forms an irregular, rigid tube that then alters the shape of the emerging hair. While it is assumed that the condition is autosomal dominant and thus due to changes (mutations) in a gene, no responsible gene has been identified.

What are the symptoms of Huntington disease ?

What are the signs and symptoms of Huntington disease? Huntington disease (HD) is a progressive disorder that causes motor, cognitive, and psychiatric signs and symptoms. On average, most people begin developing features of HD between ages 35 and 44. Signs and symptoms vary by stage and may include: Early stage: Behavioral disturbances Clumsiness Moodiness Irritability Paranoia Apathy Anxiety Hallucinations Abnormal eye movements Depression Impaired ability to detect odors Middle stage: Dystonia Involuntary movements Trouble with balance and walking Chorea with twisting and writhing motions Unsteady gait (style of walking) Slow reaction time General weakness Weight loss Speech difficulties Stubbornness Late stage: Rigidity (continual tension of the muscles) Bradykinesia (difficulty initiating and continuing movements) Severe chorea Serious weight loss Inability to speak Inability to walk Swallowing problems Inability to care for oneself There is also a less common, early-onset form of HD which begins in childhood or adolescence. For more information on this form, please visit GARD's juvenile Huntington disease Web page. The Human Phenotype Ontology provides the following list of signs and symptoms for Huntington 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) Abnormality of movement 50% Abnormality of the voice 50% Behavioral abnormality 50% Cerebral cortical atrophy 50% Developmental regression 50% EEG abnormality 50% Hypertonia 50% Rigidity 7.5% Abnormality of eye movement - Autosomal dominant inheritance - Bradykinesia - Chorea - Dementia - Depression - Gliosis - Hyperreflexia - Neuronal loss in central nervous system - Personality changes - 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.

What are the symptoms of X-linked Charcot-Marie-Tooth disease type 2 ?

What are the signs and symptoms of X-linked Charcot-Marie-Tooth disease type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked Charcot-Marie-Tooth disease type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Decreased nerve conduction velocity 90% Muscle weakness 90% Pes cavus 90% Skeletal muscle atrophy 90% Cognitive impairment 50% Impaired pain sensation 50% Gait disturbance 7.5% Hemiplegia/hemiparesis 7.5% Incoordination 7.5% Kyphosis 7.5% Neurological speech impairment 7.5% Reduced consciousness/confusion 7.5% Scoliosis 7.5% Tremor 7.5% Distal amyotrophy 5% Intellectual disability 5% Areflexia - Decreased motor nerve conduction velocity - Distal muscle weakness - Distal sensory impairment - EMG: axonal abnormality - Foot dorsiflexor weakness - Infantile onset - Steppage gait - Upper limb muscle weakness - 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.

What are the treatments for hystrix-like ichthyosis with deafness ?

These resources address the diagnosis or management of hystrix-like ichthyosis with deafness: - Foundation for Ichthyosis and Related Skin Types: Ichthyosis Hystrix - Genetic Testing Registry: Hystrix-like ichthyosis with deafness 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

How many people are affected by congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency ?

CAH due to 11-beta-hydroxylase deficiency accounts for 5 to 8 percent of all cases of congenital adrenal hyperplasia. It is estimated that CAH due to 11-beta-hydroxylase deficiency occurs in 1 in 100,000 to 200,000 newborns. This condition is more common in Moroccan Jews living in Israel, occurring in approximately 1 in 5,000 to 7,000 newborns. The classic form of CAH due to 11-beta-hydroxylase deficiency appears to be much more common than the non-classic form.

How to diagnose Kidney Stones in Children ?

The process of diagnosing any illness begins with consideration of the symptoms. Pain or bloody urine may be the first symptom. Urine, blood, and imaging tests will help determine whether symptoms are caused by a stone. Urine tests can be used to check for infection and for substances that form stones. Blood tests can be used to check for biochemical problems that can lead to kidney stones. Various imaging techniques can be used to locate the stone: - Ultrasound uses a device, called a transducer, that bounces safe, painless sound waves off organs to create an image of their structure. An abdominal ultrasound can create images of the entire urinary tract. The procedure is performed in a health care providers office, outpatient center, or hospital by a specially trained technician, and the images are interpreted by a radiologista doctor who specializes in medical imaging; anesthesia is not needed. The images can show the location of any stones. This test does not expose children to radiation, unlike some other imaging tests. Although other tests are more useful in detecting very small stones or stones in the lower portion of the ureter, ultrasound is considered by many health care providers to be the best screening test to look for stones. - Computerized tomography (CT) scans use a combination of x rays and computer technology to create threedimensional (3-D) images. A CT scan may include the injection of a special dye, called contrast medium. CT scans require the child to lie on a table that slides into a tunnel-shaped device where the x rays are taken. The procedure is performed in an outpatient center or hospital by an x-ray technician, and the images are interpreted by a radiologist; anesthesia is not needed. CT scans may be required to get an accurate stone count when children are being considered for urologic surgery. Because CT scans expose children to a moderate amount of radiation, health care providers try to reduce radiation exposure in children by avoiding repeated CT scans, restricting the area scanned as much as possible, and using the lowest radiation dose that will provide the needed diagnostic information. - X-ray machines use radiation to create images of the childs urinary tract. The images can be taken at an outpatient center or hospital by an x-ray technician, and the images are interpreted by a radiologist; anesthesia is not needed. The x rays are used to locate many kinds of stones. A conventional x ray is generally less informative than an ultrasound or CT scan, but it is less expensive and can be done more quickly than other imaging procedures.

What are the genetic changes related to recombinant 8 syndrome ?

Recombinant 8 syndrome is caused by a rearrangement of chromosome 8 that results in a deletion of a piece of the short (p) arm and a duplication of a piece of the long (q) arm. The deletion and duplication result in the recombinant 8 chromosome. The signs and symptoms of recombinant 8 syndrome are related to the loss and addition of genetic material on these regions of chromosome 8. Researchers are working to determine which genes are involved in the deletion and duplication on chromosome 8.

What are the symptoms of Preaxial polydactyly type 1 ?

What are the signs and symptoms of Preaxial polydactyly type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Preaxial polydactyly type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Preaxial hand polydactyly - Radial deviation of thumb terminal phalanx - 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.

What are the treatments for Warthin tumor ?

How might Warthin tumor be treated? Treatment of Warthin tumor generally includes surgery to remove the tumor or careful observation to watch for changes in the tumor over time. Because Warthin tumor is almost always benign, additional treatment (i.e. radiation therapy and/or chemotherapy) is rarely needed.

What are the symptoms of Transcobalamin 1 deficiency ?

What are the signs and symptoms of Transcobalamin 1 deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Transcobalamin 1 deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis - Autosomal dominant inheritance - Autosomal recessive inheritance - Paresthesia - 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.

What are the treatments for restless legs syndrome ?

These resources address the diagnosis or management of restless legs syndrome: - Agency for Healthcare Research and Quality: Options for Treating Restless Legs Syndrome - Genetic Testing Registry: Restless legs syndrome, susceptibility to, 8 - National Heart, Lung, and Blood Institute: How is Restless Legs Syndrome Diagnosed? - National Heart, Lung, and Blood Institute: How is Restless Legs Syndrome Treated? - Restless Leg Syndrome Foundation: Diagnosis - Restless Leg Syndrome Foundation: Treatment Options 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

What is (are) Whiplash ?

Whiplash-a soft tissue injury to the neck-is also called neck sprain or neck strain. It is characterized by a collection of symptoms that occur following damage to the neck, usually because of sudden extension and flexion. The disorder commonly occurs as the result of an automobile accident and may include injury to intervertebral joints, discs, and ligaments, cervical muscles, and nerve roots. Symptoms such as neck pain may be present directly after the injury or may be delayed for several days. In addition to neck pain, other symptoms may include neck stiffness, injuries to the muscles and ligaments (myofascial injuries), headache, dizziness, abnormal sensations such as burning or prickling (paresthesias), or shoulder or back pain. In addition, some people experience cognitive, somatic, or psychological conditions such as memory loss, concentration impairment, nervousness/irritability, sleep disturbances, fatigue, or depression.

What is (are) Pervasive Developmental Disorders ?

The diagnostic category of pervasive developmental disorders (PDD) refers to a group of disorders characterized by delays in the development of socialization and communication skills. Parents may note symptoms as early as infancy, although the typical age of onset is before 3 years of age. Symptoms may include problems with using and understanding language; difficulty relating to people, objects, and events; unusual play with toys and other objects; difficulty with changes in routine or familiar surroundings, and repetitive body movements or behavior patterns. Autism (a developmental brain disorder characterized by impaired social interaction and communication skills, and a limited range of activities and interests) is the most characteristic and best studied PDD. Other types of PDD include Asperger's Syndrome, Childhood Disintegrative Disorder, and Rett's Syndrome. Children with PDD vary widely in abilities, intelligence, and behaviors. Some children do not speak at all, others speak in limited phrases or conversations, and some have relatively normal language development. Repetitive play skills and limited social skills are generally evident. Unusual responses to sensory information, such as loud noises and lights, are also common.

What is (are) Heart Diseases ?

If you're like most people, you think that heart disease is a problem for others. But heart disease is the number one killer in the U.S. It is also a major cause of disability. There are many different forms of heart disease. The most common cause of heart disease is narrowing or blockage of the coronary arteries, the blood vessels that supply blood to the heart itself. This is called coronary artery disease and happens slowly over time. It's the major reason people have heart attacks. Other kinds of heart problems may happen to the valves in the heart, or the heart may not pump well and cause heart failure. Some people are born with heart disease. You can help reduce your risk of heart disease by taking steps to control factors that put you at greater risk: - Control your blood pressure - Lower your cholesterol - Don't smoke - Get enough exercise NIH: National Heart, Lung, and Blood Institute

What are the symptoms of Klippel Feil syndrome ?

What are the signs and symptoms of Klippel Feil syndrome? Klippel Feil syndrome is characterized by the fusion of 2 or more spinal bones in the neck (cervical vertebrae). The condition is present from birth (congenital). The 3 most common features include a low posterior hairline (at the back of the head); a short neck; and limited neck range of motion. However, not all affected people have these features. This condition can cause chronic headaches as well as pain in both the neck and the back. KFS has been reported in people with a very wide variety of other conditions and abnormalities, including: scoliosis (curvature of the spine) cervical dystonia (painful, involuntary tensing of the neck muscles) genitourinary abnormalities (those of the reproductive organs and/or urinary system, including the kidneys) Sprengel deformity cardiac (heart) defects such as ventricular septal defect pulmonary abnormalities (relating to the lungs) and respiratory problems hearing deficits facial asymmetry, or other abnormalities of the head and face (such as cleft palate or hemifacial microsomia) torticollis central nervous system abnormalities (including Chiari malformation, spina bifida, or syringomyelia), and/or neurological symptoms other skeletal abnormalities (including those of the ribs, limbs and/or fingers) situs inversus short stature synkinesia (where movement in one hand involuntarily mimics the deliberate movement of the other hand) Wildervank syndrome Duane syndrome or other eye (ocular) abnormalities The Human Phenotype Ontology provides the following list of signs and symptoms for Klippel Feil 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 vertebral segmentation and fusion 90% Cervical vertebral fusion (C2/C3) 90% Facial asymmetry 90% Limited neck range of motion 90% Low posterior hairline 90% Short neck 90% Vertebral segmentation defect 90% Webbed neck 90% Abnormality of the ribs 50% Abnormality of the shoulder 50% Congenital muscular torticollis 50% Hearing impairment 50% Scoliosis 50% Sprengel anomaly 50% Abnormality of limb bone morphology 7.5% Abnormality of the cranial nerves 7.5% Abnormality of the sacrum 7.5% Cleft palate 7.5% Cognitive impairment 7.5% Ectopic anus 7.5% Hemiplegia/hemiparesis 7.5% Posterior fossa cyst 7.5% Renal hypoplasia/aplasia 7.5% Spina bifida 7.5% Urogenital fistula 7.5% Ventricular septal defect 7.5% Scoliosis 30/50 Sprengel anomaly 21/50 Mixed hearing impairment 5/24 Bimanual synkinesia 9/50 Unilateral renal agenesis 7/45 Abnormality of cardiovascular system morphology 21/505 Abnormality of the pinna - Autosomal dominant inheritance - Autosomal recessive inheritance - Cervicomedullary schisis - Cleft upper lip - Conductive hearing impairment - Fused cervical vertebrae - Sensorineural hearing impairment - 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.

What is (are) steatocystoma multiplex ?

Steatocystoma multiplex is a skin disorder characterized by the development of multiple noncancerous (benign) cysts known as steatocystomas. These growths begin in the skin's sebaceous glands, which normally produce an oily substance called sebum that lubricates the skin and hair. Steatocystomas are filled with sebum. In affected individuals, steatocystomas typically first appear during adolescence and are found most often on the torso, neck, upper arms, and upper legs. In most people with steatocystoma multiplex, these cysts are the only sign of the condition. However, some affected individuals also have mild abnormalities involving the teeth or the fingernails and toenails.

What are the symptoms of Craniodiaphyseal dysplasia ?

What are the signs and symptoms of Craniodiaphyseal dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Craniodiaphyseal dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the mandible 90% Abnormality of the ribs 90% Coarse facial features 90% Cognitive impairment 90% Craniofacial hyperostosis 90% Depressed nasal bridge 90% Frontal bossing 90% Macrocephaly 90% Short stature 90% Atresia of the external auditory canal 50% Conductive hearing impairment 50% Optic atrophy 7.5% Autosomal recessive inheritance - Diaphyseal dysplasia - Diaphyseal sclerosis - Facial hyperostosis - Intellectual disability - 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.

What is (are) dyserythropoietic anemia and thrombocytopenia ?

Dyserythropoietic anemia and thrombocytopenia is a condition that affects blood cells and primarily occurs in males. A main feature of this condition is a type of anemia called dyserythropoietic anemia, which is characterized by a shortage of red blood cells. The term "dyserythropoietic" refers to the abnormal red blood cell formation that occurs in this condition. In affected individuals, immature red blood cells are unusually shaped and cannot develop into functional mature cells, leading to a shortage of healthy red blood cells. People with dyserythropoietic anemia and thrombocytopenia can have another blood disorder characterized by a reduced level of circulating platelets (thrombocytopenia). Platelets are cell fragments that normally assist with blood clotting. Thrombocytopenia can cause easy bruising and abnormal bleeding. While people with dyserythropoietic anemia and thrombocytopenia can have signs and symptoms of both blood disorders, some are primarily affected by anemia, while others are more affected by thrombocytopenia. The most severe cases of dyserythropoietic anemia and thrombocytopenia are characterized by hydrops fetalis, a condition in which excess fluid builds up in the body before birth. For many others, the signs and symptoms of dyserythropoietic anemia and thrombocytopenia begin in infancy. People with this condition experience prolonged bleeding or bruising after minor trauma or even in the absence of injury (spontaneous bleeding). Anemia can cause pale skin, weakness, and fatigue. Severe anemia may create a need for frequent blood transfusions to replenish the supply of red blood cells; however, repeated blood transfusions over many years can cause health problems such as excess iron in the blood. People with dyserythropoietic anemia and thrombocytopenia may also have a shortage of white blood cells (neutropenia), which can make them prone to recurrent infections. Additionally, they may have an enlarged spleen (splenomegaly). The severity of these abnormalities varies among affected individuals. Some people with dyserythropoietic anemia and thrombocytopenia have additional blood disorders such as beta thalassemia or congenital erythropoietic porphyria. Beta thalassemia is a condition that reduces the production of hemoglobin, which is the iron-containing protein in red blood cells that carries oxygen. A decrease in hemoglobin can lead to a shortage of oxygen in cells and tissues throughout the body. Congenital erythropoietic porphyria is another disorder that impairs hemoglobin production. People with congenital erythropoietic porphyria are also very sensitive to sunlight, and areas of skin exposed to the sun can become fragile and blistered.

How many people are affected by ethylmalonic encephalopathy ?

About 30 individuals with this condition have been identified worldwide, mostly in Mediterranean and Arab populations. Although ethylmalonic encephalopathy appears to be very rare, researchers suggest that some cases have been misdiagnosed as other neurologic disorders.

What are the symptoms of Amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis and acidosis ?

What are the signs and symptoms of Amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis and acidosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis and acidosis. 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) Acidosis - Aminoaciduria - Autosomal recessive inheritance - Intellectual disability - Muscular dystrophy - Osteoporosis - Severe short stature - 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.

How many people are affected by rhizomelic chondrodysplasia punctata ?

Rhizomelic chondrodysplasia punctata affects fewer than 1 in 100,000 people worldwide. RCDP1 is more common than RCDP2 or RCDP3.

How to diagnose Axenfeld-Rieger syndrome type 1 ?

Is genetic testing available for Axenfeld Rieger syndrome? The Genetic Testing Registry (GTR) is a central online resource for information about genetic tests. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. To view the clinical laboratories conducting testing click here.

Is Czech dysplasia inherited ?

Czech dysplasia is inherited in an autosomal dominant pattern, which means one copy of the altered COL2A1 gene in each cell is sufficient to cause the disorder. All known individuals with Czech dysplasia inherited the mutation from a parent with the condition.

What is (are) Herpes zoster oticus ?

Herpes zoster oticus is a common complication of shingles, an infection caused by the varicella-zoster virus (which is the virus that also causes chickenpox). Shingles occurs in people who have had chickenpox and the varicella-zoster virus becomes active again. Herpes zoster oticus is caused by the spread of the virus to facial nerves and can cause intense ear pain; a rash around the ear, mouth, face, neck, and scalp; and paralysis of the face. Other symptoms may include hearing loss, vertigo (feeling that the room is spinning), tinnitus (hearing abnormal sounds), loss of taste in the tongue, and dry mouth and eyes. Some cases of herpes zoster oticus do not require treatment, but when treatment is needed, pain medications, antiviral drugs or corticosteroids may be prescribed. Vertigo is sometimes treated with medication as well. The prognosis of herpes zoster oticus is typically good but in some cases, hearing loss or facial paralysis may be permanent.

Do you have information about Orthodontia

Summary : Some people have naturally straight teeth that fit together. But if you have problems with your bite or the spacing of your teeth, you may need orthodontic care. Orthodontia is the branch of dentistry that deals with abnormalities of the teeth and jaw. Orthodontic care involves the use of devices, such as braces, to - Straighten teeth - Correct problems with bite - Close gaps between teeth - Align lips and teeth properly Most people who receive orthodontic care are kids, but adults get braces, too. In young children, orthodontic treatment may guide proper jaw growth. This can help permanent teeth to come in properly. Straight permanent teeth can help prevent tooth problems later on.

What to do for Prevent diabetes problems: Keep your diabetes under control ?

Following a healthy eating plan is a key step in living with diabetes and preventing diabetes problems. Your health care team will help you make a healthy eating plan. More information is provided in the NIDDK health topic, What I need to know about Eating and Diabetes or call 18008608747.

How to diagnose MECP2 duplication syndrome ?

How is MECP2 duplication syndrome diagnosed? A diagnosis of MECP2 duplication syndrome is often suspected based on the presence of characteristic signs and symptoms. Genetic testing can then be ordered to confirm the diagnosis.

Is Troyer syndrome inherited ?

How is Troyer syndrome inherited? Troyer syndrome is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has: a 25% (1 in 4) chance to be affected a 50% (1 in 2) chance to be an unaffected carrier like each parent a 25% chance to be unaffected and not be a carrier.

what research (or clinical trials) is being done for Colpocephaly ?

The National Institute of Neurological Disorders and Stroke (NINDS), and other institutes of the National Institutes of Health (NIH), conduct research related to colpocephaly and other cephalic disorders in laboratories at the NIH, and also support additional research through grants to major medical institutions across the country. Much of this research focuses on finding ways to prevent brain abnormalities such as colpocephaly.

What causes Trisomy 17 mosaicism ?

What causes trisomy 17 mosaicism? Trisomy 17 mosaicism can arise due to errors in cell division that occur after conception. For example, at the time of conception, the fetus may actually have trisomy 17 in all of its cells; however, during cell division, some of the cells lose the extra chromosome 17. Alternatively, the fetus may initially have had only two copies of chromosome 17, but due to errors in cell division some of the cells end up with an extra copy of chromosome 17. Either of these two scenarios result in trisomy 17 mosaicism. To read more about trisomy mosaicism, visit the following links from the Medical Genetics Department at the University of British Columbia in Canada. What is mosaicism? How does trisomy mosaicism occur?

How many people are affected by autoimmune Addison disease ?

Addison disease affects approximately 11 to 14 in 100,000 people of European descent. The autoimmune form of the disorder is the most common form in developed countries, accounting for up to 90 percent of cases.

What are the treatments for Striatonigral Degeneration ?

There is no cure for striatonigral degeneration, and treatments for the disorder have variable success. Treatments used for Parkinson's disease are recommended. However, unlike Parkinson's disease, striatonigral degeneration is not responsive to levodopa. Dopamine and anticholinergics provide some benefit. Generally, treatment is reevaluated as the disorder progresses.

What is (are) Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes ?

Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) affects many parts of the body, particularly the brain and nervous system (encephalo-) and muscles (myopathy). Symptoms typically begin in childhood and may include muscle weakness and pain, recurrent headaches, loss of appetite, vomiting, and seizures. Most affected individuals experience stroke-like episodes beginning before age 40. People with MELAS can also have a buildup of lactic acid in their bodies that can lead to vomiting, abdominal pain, fatigue, muscle weakness, and difficulty breathing. The genes associated with MELAS are located in mitochondrial DNA and therefore follow a maternal inheritance pattern (also called mitochondrial inheritance). MELAS can be inherited from the mother only, because only females pass mitochondrial DNA to their children. In some cases, MELAS results from a new mutation that was not inherited from a person's mother.

What is (are) Chest Pain ?

Having a pain in your chest can be scary. It does not always mean that you are having a heart attack. There can be many other causes, including - Other heart problems, such as angina - Panic attacks - Digestive problems, such as heartburn or esophagus disorders - Sore muscles - Lung diseases, such as pneumonia, pleurisy, or pulmonary embolism - Costochondritis - an inflammation of joints in your chest Some of these problems can be serious. Get immediate medical care if you have chest pain that does not go away, crushing pain or pressure in the chest, or chest pain along with nausea, sweating, dizziness or shortness of breath. Treatment depends on the cause of the pain.

What are the treatments for Mitochondrial complex II deficiency ?

How might mitochondrial complex II deficiency be treated? Treatment options for complex II deficiency may be similar to those for other mitochondrial disorders in general.[8677] The United Mitochondrial Disease Foundation (UMDF) provides detailed information on treatment through their Web site at: http://www.umdf.org/site/pp.aspx?c=8qKOJ0MvF7LUG&b=7934635 We strongly recommend that you discuss this information with a healthcare provider.

What are the symptoms of Multifocal choroiditis ?

What are the signs and symptoms of multifocal choroiditis? Multifocal choroiditis (MFC) generally causes blurry vision with or without sensitivity to light. Other common symptoms include blind spots, floaters, eye discomfort and perceived flashes of light. Clinical examination by an ophthalmologist reveals inflammation in the front, middle and/or back layers of the eye with multiple scattered yellow/gray-white spots in the choroid and retina. A subset of people with this condition also develop choroidal neovascular membranes (CNVMs), new blood vessels that can cause more severe vision loss.

What is (are) Fine-Lubinsky syndrome ?

Fine-Lubinsky syndrome (FLS) is a very rare syndrome that affects various parts of the body. Signs and symptoms can vary and may include brachycephaly or plagiocephaly; structural brain abnormalities; abnormal EEG; intellectual disability; deafness; eye conditions (cataracts or glaucoma); distinctive facial features; and body asymmetry. The underlying cause of FLS remains unknown. Almost all cases have been sporadic (occurring in people with no family history of FLS) with the exception of 2 affected siblings, suggesting it was inherited in an autosomal recessive manner.

Is hereditary multiple osteochondromas inherited ?

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.

Who is at risk for Testicular Cancer? ?

A condition called cryptorchidism (an undescended testicle) is a risk factor for testicular cancer. Anything that increases the chance of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. Talk to your doctor if you think you may be at risk. Risk factors for testicular cancer include the following: - Having cryptorchidism (an undescended testicle). - Having a testicle that is not normal, such as a small testicle that does not work the way it should. - Having testicular carcinoma in situ. - Being white. - Having a personal or family history of testicular cancer. - Having Klinefelter syndrome. Men who have cryptorchidism, a testicle that is not normal, or testicular carcinoma in situ have an increased risk of testicular cancer in one or both testicles, and need to be followed closely.

How to diagnose Autoimmune Hepatitis ?

A health care provider will make a diagnosis of autoimmune hepatitis based on symptoms, a physical exam, blood tests, and a liver biopsy. A health care provider performs a physical exam and reviews the person's health history, including the use of alcohol and medications that can harm the liver. A person usually needs blood tests for an exact diagnosis because a person with autoimmune hepatitis can have the same symptoms as those of other liver diseases or metabolic disorders. Blood tests. A blood test involves drawing blood at a health care provider's office or a commercial facility and sending the sample to a lab for analysis. A person will need blood tests for autoantibodies to help distinguish autoimmune hepatitis from other liver diseases that have similar symptoms, such as viral hepatitis, primary biliary cirrhosis, steatohepatitis, or Wilson disease. Liver biopsy. A liver biopsy is a procedure that involves taking a piece of liver tissue for examination with a microscope for signs of damage or disease. The health care provider may ask the patient to temporarily stop taking certain medications before the liver biopsy. He or she may also ask the patient to fast for 8 hours before the procedure. During the procedure, the patient lies on a table, right hand resting above the head. A health care provider will apply a local anesthetic to the area where he or she will insert the biopsy needle. If needed, he or she will give sedatives and pain medication. Then, he or she will use a needle to take a small piece of liver tissue, and may use ultrasound, computerized tomography scans, or other imaging techniques to guide the needle. After the biopsy, the patient must lie on the right side for up to 2 hours and is monitored an additional 2 to 4 hours before being sent home. A health care provider performs a liver biopsy at a hospital or an outpatient center. The liver sample is sent to a pathology lab where the pathologista doctor who specializes in diagnosing diseaselooks at the tissue with a microscope and sends a report to the patient's health care provider. A health care provider can use liver biopsy to diagnose autoimmune hepatitis and determine if cirrhosis is present. People often have cirrhosis at the time they are diagnosed with autoimmune hepatitis. A health care provider can also use liver biopsy to look for changes in the severity of liver damage prior to ending treatment for autoimmune hepatitis.

What are the stages of Breast Cancer ?

Key Points - After breast cancer has been diagnosed, tests are done to find out if cancer cells have spread within the breast 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. - The following stages are used for breast cancer: - Stage 0 (carcinoma in situ) - Stage I - Stage II - Stage IIIA - Stage IIIB - Stage IIIC - Stage IV After breast cancer has been diagnosed, tests are done to find out if cancer cells have spread within the breast or to other parts of the body. The process used to find out if the cancer has spread within the breast 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. Some procedures may expose the unborn baby to harmful radiation or dyes. These procedures are done only if absolutely necessary. Certain actions can be taken to expose the unborn baby to as little radiation as possible, such as the use of a lead-lined shield to cover the abdomen. The following tests and procedures may be used to stage breast cancer during pregnancy: - Sentinel lymph node biopsy : The removal of the sentinel lymph node during surgery. The sentinel lymph node is the first lymph node to receive lymphatic drainage from a tumor. It is the first lymph node the cancer is likely to spread to from the tumor. A radioactive substance and/or blue dye is injected near the tumor. The substance or dye flows through the lymph ducts to the lymph nodes. The first lymph node to receive the substance or dye is removed. A pathologist views the tissue under a microscope to look for cancer cells. If cancer cells are not found, it may not be necessary to remove more lymph nodes. - 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. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - Bone scan : A procedure to check if there are rapidly dividing cells, such as cancer cells, in the bone. A very small amount of radioactive material is injected into a vein and travels through the bloodstream. The radioactive material collects in bones with cancer and is detected by a scanner. - 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. - 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, such as the brain. This procedure is also called nuclear magnetic resonance imaging (NMRI). - Ultrasound exam: A procedure in which high-energy sound waves (ultrasound) are bounced off internal tissues or organs, such as the liver, and make echoes. The echoes form a picture of body tissues called a sonogram. The picture can be printed to be looked at later. - 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. 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 breast cancer spreads to the bone, the cancer cells in the bone are actually breast cancer cells. The disease is metastatic breast cancer, not bone cancer. The following stages are used for breast cancer: This section describes the stages of breast cancer. The breast cancer stage is based on the results of testing that is done on the tumor and lymph nodes removed during surgery and other tests. Stage 0 (carcinoma in situ) There are 3 types of breast carcinoma in situ: - Ductal carcinoma in situ (DCIS) is a noninvasive condition in which abnormal cells are found in the lining of a breast duct. The abnormal cells have not spread outside the duct to other tissues in the breast. In some cases, DCIS may become invasive cancer and spread to other tissues. At this time, there is no way to know which lesions could become invasive. - Lobular carcinoma in situ (LCIS) is a condition in which abnormal cells are found in the lobules of the breast. This condition seldom becomes invasive cancer. However, having LCIS in one breast increases the risk of developing breast cancer in either breast. - Paget disease of the nipple is a condition in which abnormal cells are found in the nipple only. Stage I In stage I, cancer has formed. Stage I is divided into stages IA and IB. - In stage IA, the tumor is 2 centimeters or smaller. Cancer has not spread outside the breast. - In stage IB, small clusters of breast cancer cells (larger than 0.2 millimeter but not larger than 2 millimeters) are found in the lymph nodes and either: - no tumor is found in the breast; or - the tumor is 2 centimeters or smaller. Stage II Stage II is divided into stages IIA and IIB. - In stage IIA: - no tumor is found in the breast or the tumor is 2 centimeters or smaller. Cancer (larger than 2 millimeters) is found in 1 to 3 axillary lymph nodes or in the lymph nodes near the breastbone (found during a sentinel lymph node biopsy); or - the tumor is larger than 2 centimeters but not larger than 5 centimeters. Cancer has not spread to the lymph nodes. - In stage IIB, the tumor is: - larger than 2 centimeters but not larger than 5 centimeters. Small clusters of breast cancer cells (larger than 0.2 millimeter but not larger than 2 millimeters) are found in the lymph nodes; or - larger than 2 centimeters but not larger than 5 centimeters. Cancer has spread to 1 to 3 axillary lymph nodes or to the lymph nodes near the breastbone (found during a sentinel lymph node biopsy); or - larger than 5 centimeters. Cancer has not spread to the lymph nodes. Stage IIIA In stage IIIA: - no tumor is found in the breast or the tumor may be any size. Cancer is found in 4 to 9 axillary lymph nodes or in the lymph nodes near the breastbone (found during imaging tests or a physical exam); or - the tumor is larger than 5 centimeters. Small clusters of breast cancer cells (larger than 0.2 millimeter but not larger than 2 millimeters) are found in the lymph nodes; or - the tumor is larger than 5 centimeters. Cancer has spread to 1 to 3 axillary lymph nodes or to the lymph nodes near the breastbone (found during a sentinel lymph node biopsy). Stage IIIB In stage IIIB, the tumor may be any size and cancer has spread to the chest wall and/or to the skin of the breast and caused swelling or an ulcer. Also, cancer may have spread to: - up to 9 axillary lymph nodes; or - the lymph nodes near the breastbone. Cancer that has spread to the skin of the breast may also be inflammatory breast cancer. See the section on Inflammatory Breast Cancer for more information. Stage IIIC In stage IIIC, no tumor is found in the breast or the tumor may be any size. Cancer may have spread to the skin of the breast and caused swelling or an ulcer and/or has spread to the chest wall. Also, cancer has spread to: - 10 or more axillary lymph nodes; or - lymph nodes above or below the collarbone; or - axillary lymph nodes and lymph nodes near the breastbone. Cancer that has spread to the skin of the breast may also be inflammatory breast cancer. See the section on Inflammatory Breast Cancer for more information. For treatment, stage IIIC breast cancer is divided into operable and inoperable stage IIIC. Stage IV In stage IV, cancer has spread to other organs of the body, most often the bones, lungs, liver, or brain.

How many people are affected by leptin receptor deficiency ?

The prevalence of leptin receptor deficiency is unknown. It has been estimated to account for up to 3 percent of individuals with severe obesity and hyperphagia that begins in early childhood.

Is oculopharyngeal muscular dystrophy inherited ?

Most cases of oculopharyngeal 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. People with autosomal dominant oculopharyngeal muscular dystrophy have a mutation resulting in a PABPN1 protein with an expanded polyalanine tract of between 12 and 17 alanines. Less commonly, oculopharyngeal muscular dystrophy can be inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. In autosomal recessive oculopharyngeal muscular dystrophy, PABPN1 mutations lead to a polyalanine tract that is 11 alanines long. 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.

Who is at risk for Childhood Central Nervous System Atypical Teratoid/Rhabdoid Tumor? ?

Certain genetic changes may increase the risk of atypical teratoid/rhabdoid tumor. Anything that increases the risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. Talk with your child's doctor if you think your child may be at risk. Atypical teratoid/rhabdoid tumor may be linked to changes in the tumor suppressor genes SMARCB1 or SMARCA4. Genes of this type make a protein that helps control cell growth. Changes in the DNA of tumor suppressor genes like SMARCB1 or SMARCA4 may lead to cancer. Changes in the SMARCB1 or SMARCA4 genes may be inherited (passed on from parents to offspring). When this gene change is inherited, tumors may form in two parts of the body at the same time (for example, in the brain and the kidney). For patients with AT/RT, genetic counseling (a discussion with a trained professional about inherited diseases and a possible need for gene testing) may be recommended.

What is (are) Parasites - Trichinellosis (also known as Trichinosis) ?

Trichinellosis, also called trichinosis, is caused by eating raw or undercooked meat of animals infected with the larvae of a species of worm called Trichinella. Infection occurs commonly in certain wild carnivorous (meat-eating) animals such as bear or cougar, or omnivorous (meat and plant-eating) animals such as domestic pigs or wild boar.

What are the symptoms of Froelich syndrome ?

What are the signs and symptoms of Froelich syndrome? Signs and symptoms of Froelich syndrome include obesity, small testes, delay in the onset of puberty, short stature (compared to other family members of the same sex), malformed or undersized fingernails, and headaches. Some children with Froehlich syndrome may have mental retardation, difficulties with vision, and in rare cases diabetes. Other symptoms of the syndrome may include excessive thirst, excessive urination, and very delicate skin.

Is 3MC syndrome inherited ?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

What are the treatments for Febrile Ulceronecrotic Mucha-Habermann disease ?

How is febrile ulceronecrotic Mucha-Habermann disease (FUMHD) treated? It is important that FUMHD is diagnosed and treated as soon as possible. While a number of treatments have been tried, it is hard to asses the benefit of the therapies because there are so few cases of FUMHD and among reported cases the treatment approach may vary. The case reports describe treatment with systemic steroids, methotrexate, antibiotics, dapsone, cyclosporine, psoralen and ultraviolet A (PUVA), ultraviolet B (UVB), unspecified ultraviolet receptor, acyclovir, immunoglobulins, and 4,4-diaminodiphenylsulphone (DDS). Again the efficacy of these therapies are not known. Acyclovir was prescribed in cases where varicella was initially suspected. None of these cases turned out to be associated with herpes simplex or varicella-zoster virus infection. The benefit of acyclovir therapy in people with FUMHD is questionable. Systemic steroids have been commonly utilized among reported cases (27 of 40 cases), with only one report of a positive effect. Methotrexate has been used in 15 patients. It induced rapid remissions and was successful in cases that did not respond to other therapies. Still four patients died despite methotrexate theapy. It is possible this was due to its late institution. Debridement and skin grafting was successful in one case, but the patient was left with considerable scaring. In advanced disease, therapy is also aimed at stabilizing the patient. Intensive care treatment of infection and maintenance of the patients general condition is vital. The state of these patients is similar to what is seen in patients with severe burns. Thus, patients with FUMHD may benefit from the same supportive services that burn victims receive. Treatment with tumor necrosis factor (TNF)-alpha inhibitors (such as infliximab and etanercept) has been suggested as a first-line option in the management of FUMHD because elevated levels of serum TNF-alpha have been reported in this disease However, further studies may be required to establish this approach to treatment. More detailed information about treatment options for FUMHD can be accessed through the DermNet NZ web site.

Do you have information about Herbal Medicine

Summary : An herb is a plant or plant part used for its scent, flavor, or therapeutic properties. Herbal medicines are one type of dietary supplement. They are sold as tablets, capsules, powders, teas, extracts, and fresh or dried plants. People use herbal medicines to try to maintain or improve their health. Many people believe that products labeled "natural" are always safe and good for them. This is not necessarily true. Herbal medicines do not have to go through the testing that drugs do. Some herbs, such as comfrey and ephedra, can cause serious harm. Some herbs can interact with prescription or over-the-counter medicines. If you are thinking about using an herbal medicine, first get information on it from reliable sources. Make sure to tell your health care provider about any herbal medicines you are taking. NIH: National Center for Complementary and Integrative Health

What are the treatments for myofibrillar myopathy ?

These resources address the diagnosis or management of myofibrillar myopathy: - Gene Review: Gene Review: Myofibrillar Myopathy - Genetic Testing Registry: Alpha-B crystallinopathy - Genetic Testing Registry: Myofibrillar myopathy - Genetic Testing Registry: Myofibrillar myopathy 1 - Genetic Testing Registry: Myofibrillar myopathy, BAG3-related - Genetic Testing Registry: Myofibrillar myopathy, ZASP-related - Genetic Testing Registry: Myofibrillar myopathy, filamin C-related - Genetic Testing Registry: Myotilinopathy 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

What causes High Blood Pressure ?

Changes, either fromgenesor the environment, in the bodys normal functions may cause high blood pressure, including changes to kidney fluid and salt balances, therenin-angiotensin-aldosterone system,sympathetic nervous systemactivity, and blood vessel structure and function. Biology and High Blood Pressure Researchers continue to study how various changes in normal body functions cause high blood pressure. The key functions affected in high blood pressure include: Kidney fluid and salt balances Renin-angiotensin-aldosterone system Sympathetic nervous system activity Blood vessel structure and function Kidney Fluid and Salt Balances The kidneys normally regulate the bodys salt balance by retaining sodium and water and excreting potassium. Imbalances in this kidney function can expand blood volumes, which can cause high blood pressure. Renin-Angiotensin-Aldosterone System The renin-angiotensin-aldosterone system makes angiotensin and aldosterone hormones. Angiotensin narrows or constricts blood vessels, which can lead to an increase in blood pressure. Aldosterone controls how the kidneys balance fluid and salt levels. Increased aldosterone levels or activity may change this kidney function, leading to increased blood volumes and high blood pressure. Sympathetic Nervous System Activity The sympathetic nervous system has important functions in blood pressure regulation, including heart rate, blood pressure, and breathing rate. Researchers are investigating whether imbalances in this system cause high blood pressure. Blood Vessel Structure and Function Changes in the structure and function of small and large arteries may contribute to high blood pressure. The angiotensin pathway and the immune system may stiffen small and large arteries, which can affect blood pressure. Genetic Causes of High Blood Pressure Much of the understanding of the body systems involved in high blood pressure has come from genetic studies. High blood pressure often runs in families. Years of research have identified many genes and other mutations associated with high blood pressure, some in the renal salt regulatory and renin-angiotensin-aldosterone pathways. However, these known genetic factors only account for 2 to 3percent of all cases. Emerging research suggests that certain DNA changes during fetal development also may cause the development of high blood pressure later in life. Environmental Causes of High Blood Pressure Environmental causes of high blood pressure include unhealthy lifestyle habits, being overweight or obese, and medicines. Unhealthy Lifestyle Habits Unhealthy lifestyle habits can cause high blood pressure, including: High dietary sodium intake and sodium sensitivity Drinking excess amounts of alcohol Lack of physical activity Overweight and Obesity Research studies show that being overweight or obese can increase the resistance in the blood vessels, causing the heart to work harder and leading to high blood pressure. Medicines Prescription medicines such as asthma or hormone therapies, including birth control pills and estrogen, and over-the-counter medicines such as cold relief medicines may cause this form of high blood pressure. This happens because medicines can change the way your body controls fluid and salt balances, cause your blood vessels to constrict, or impact the renin-angiotensin-aldosterone system leading to high blood pressure. Other Medical Causes of High Blood Pressure Other medical causes of high blood pressure include other medical conditions such as chronic kidney disease, sleep apnea, thyroid problems, or certain tumors. This happens because these other conditions change the way your body controls fluids, sodium, and hormones in your blood, which leads to secondary high blood pressure.

What are the treatments for Weissenbacher-Zweymller syndrome ?

These resources address the diagnosis or management of Weissenbacher-Zweymller syndrome: - Genetic Testing Registry: Weissenbacher-Zweymuller 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

What are the genetic changes related to branchio-oculo-facial syndrome ?

Branchio-oculo-facial syndrome is caused by mutations in the TFAP2A gene. This gene provides instructions for making a protein called transcription factor AP-2 alpha (AP-2). As its name suggests, this protein is a transcription factor, which means it attaches (binds) to specific regions of DNA and helps control the activity of particular genes. Transcription factor AP-2 regulates genes that are involved in several cellular processes, such as cell division and the self-destruction of cells that are no longer needed (apoptosis). This protein is critical during development before birth, particularly of the branchial arches, which form the structures of the face and neck. Most TFAP2A gene mutations that cause branchio-oculo-facial syndrome change single protein building blocks (amino acids) in the transcription factor AP-2 protein. These changes tend to occur in a region of the protein that allows it to bind to DNA. Without this function, transcription factor AP-2 cannot control the activity of genes during development, which disrupts the development of the eyes, ears, and face and causes the features of branchio-oculo-facial syndrome.

What are the treatments for Extragonadal Germ Cell Tumors ?

Key Points - There are different types of treatment for patients with extragonadal germ cell tumors. - Three types of standard treatment are used: - Radiation therapy - Chemotherapy - Surgery - New types of treatment are being tested in clinical trials. - High-dose chemotherapy with stem cell transplant - 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 extragonadal germ cell tumors. Different types of treatments are available for patients with extragonadal 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. 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. Three types of standard treatment are used: Radiation therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy: - External radiation therapy uses a machine outside the body to send radiation toward the cancer. - Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. The way the radiation therapy is given depends on the type and stage of the cancer being treated. External radiation therapy is used to treat seminoma. 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 in 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. Surgery Patients who have benign tumors or tumor remaining after chemotherapy or radiation therapy may need to have surgery. 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 method of giving high doses of chemotherapy and replacing blood -forming cells destroyed by the cancer treatment. Stem cells (immature blood cells) are removed from the blood or bone marrow of the patient or a donor and are frozen and stored. After the chemotherapy is completed, the stored stem cells are thawed and given back to the patient through an infusion. These reinfused stem cells grow into (and restore) the body's blood cells. 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. After initial treatment for extragonadal germ cell tumors, blood levels of AFP and other tumor markers continue to be checked to find out how well the treatment is working. Treatment Options for Extragonadal Germ Cell Tumors Benign Teratoma Treatment of benign teratomas is surgery. Check the list of NCI-supported cancer clinical trials that are now accepting patients with benign 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 doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. Seminoma Treatment of seminoma extragonadal germ cell tumors may include the following: - Radiation therapy for small tumors in one area, followed by watchful waiting if there is tumor remaining after treatment. - Chemotherapy for larger tumors or tumors that have spread. If a tumor smaller than 3 centimeters remains after chemotherapy, watchful waiting follows. If a larger tumor remains after treatment, surgery or watchful waiting follow. Check the list of NCI-supported cancer clinical trials that are now accepting patients with extragonadal seminoma. 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. Nonseminoma Treatment of nonseminoma extragonadal germ cell tumors may include the following: - Combination chemotherapy followed by surgery to remove any remaining tumor. - A clinical trial of a new treatment. Check the list of NCI-supported cancer clinical trials that are now accepting patients with malignant extragonadal non-seminomatous 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 doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. Recurrent or Refractory Extragonadal Germ Cell Tumors Treatment of extragonadal germ cell tumors that are recurrent (come back after being treated) or refractory (do not get better during treatment) may include the following: - Chemotherapy. - A clinical trial of high-dose chemotherapy with stem cell transplant. - A clinical trial of a new treatment. Check the list of NCI-supported cancer clinical trials that are now accepting patients with recurrent 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 doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.

What are the treatments for spondylocarpotarsal synostosis syndrome ?

These resources address the diagnosis or management of spondylocarpotarsal synostosis syndrome: - Gene Review: Gene Review: FLNB-Related Disorders - Genetic Testing Registry: Spondylocarpotarsal synostosis 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

What are the symptoms of Muscular dystrophy white matter spongiosis ?

What are the signs and symptoms of Muscular dystrophy white matter spongiosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Muscular dystrophy white matter spongiosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the palate 90% Cognitive impairment 90% EMG abnormality 90% Facial palsy 90% Macrocephaly 90% Muscular hypotonia 90% Myotonia 90% Narrow face 90% Seizures 90% Skeletal muscle atrophy 90% Respiratory insufficiency 50% 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.

What are the symptoms of Fetal cystic hygroma ?

What are the signs and symptoms of Fetal cystic hygroma? The Human Phenotype Ontology provides the following list of signs and symptoms for Fetal cystic hygroma. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Fetal cystic hygroma - Hydrops fetalis - Stillbirth - 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.

What is (are) Parasites - Echinococcosis ?

Frequently Asked Questions (FAQs) Cystic echinococcosis (CE) disease results from being infected with the larval stage of Echinococcus granulosus, a tiny tapeworm (~2-7 millimeters in length) found in dogs (definitive host), sheep, cattle, goats, foxes, and pigs, amongst others (intermediate hosts). Most infections in humans are asymptomatic, but CE, also known as hydatid disease, causes slowly enlarging masses, most commonly in the liver and the lungs. Treatment can involve both medication and surgery. More on: Cystic Echinococcosis (CE) FAQs Alveolar echinococcosis (AE) disease results from being infected with the larval stage of Echinococcus multilocularis, a tiny tapeworm (~1-4 millimeters in length) found in foxes, coyotes, dogs, and cats (definitive hosts). Although human cases are rare, infection in humans causes parasitic tumors to form in the liver, and, less commonly, the lungs, brain, and other organs. If left untreated, infection with AE can be fatal. More on: Alveolar Echinococcosis (AE) FAQs

What are the treatments for Ovarian small cell carcinoma ?

What treatments are available for ovarian small cell carcinoma? Ovarian small cell carcinoma is often treated with surgery and chemotherapy. Radiation therapy may also be used in some cases. Because this tumor is derived from the primitive germ cells (eggs) of the ovary, it is often treated with a chemotherapy regimen similar to what is used to treat ovarian germ cell tumors. Specifically, platinum and etoposide based chemotherapy is typically used to treat ovarian small cell carcinoma.

What are the treatments for Thyrotoxic Myopathy ?

Treatment involves restoring normal levels of thyroid hormone and may include thyroid drugs, radioactive iodine, and sometimes partial or complete surgical removal of the thyroid.

What is (are) Cataract ?

A Clouding of the Lens in the Eye A cataract is a clouding of the lens in the eye that affects vision. The lens is a clear part of the eye that helps to focus light, or an image, on the retina. The retina is the light-sensitive tissue at the back of the eye. In a normal eye, light passes through the transparent lens to the retina. Once it reaches the retina, light is changed into nerve signals that are sent to the brain. In a normal eye, light passes through the transparent lens to the retina. Once it reaches the retina, light is changed into nerve signals that are sent to the brain. A cataract can occur in either or both eyes. It cannot spread from one eye to the other. Cataracts and Aging Most cataracts are related to aging. Cataracts are very common in older people. By age 80, more than half of all Americans either have a cataract or have had cataract surgery.

How many people are affected by cranioectodermal dysplasia ?

Cranioectodermal dysplasia is a rare condition with an unknown prevalence. Approximately 40 cases of this condition have been described in the medical literature.

Is Lujan syndrome inherited ?

This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.

What are the genetic changes related to atelosteogenesis type 1 ?

Mutations in the FLNB gene cause atelosteogenesis type 1. The FLNB gene provides instructions for making a protein called filamin B. This protein helps build the network of protein filaments (cytoskeleton) that gives structure to cells and allows them to change shape and move. Filamin B attaches (binds) to another protein called actin and helps the actin to form the branching network of filaments that makes up the cytoskeleton. Filamin B also links actin to many other proteins to perform various functions within the cell, including the cell signaling that helps determine how the cytoskeleton will change as tissues grow and take shape during development. Filamin B is especially important in the development of the skeleton before birth. It is active (expressed) in the cell membranes of cartilage-forming cells (chondrocytes). Cartilage is a tough, flexible tissue that makes up much of the skeleton during early development. Most cartilage is later converted to bone, a process called ossification, except for the cartilage that continues to cover and protect the ends of bones and is present in the nose, airways (trachea and bronchi), and external ears. Filamin B appears to be important for normal cell growth and division (proliferation) and maturation (differentiation) of chondrocytes and for the ossification of cartilage. FLNB gene mutations that cause atelosteogenesis type 1 change single protein building blocks (amino acids) in the filamin B protein or delete a small section of the protein sequence, resulting in an abnormal protein. This abnormal protein appears to have a new, atypical function that interferes with the proliferation or differentiation of chondrocytes, impairing ossification and leading to the signs and symptoms of atelosteogenesis type 1.

How many people are affected by Legius syndrome ?

The prevalence of Legius syndrome is unknown. Many individuals with this disorder are likely misdiagnosed because the signs and symptoms of Legius syndrome are similar to those of neurofibromatosis type 1.

What is (are) Sertoli cell-only syndrome ?

Sertoli cell-only syndrome (SCO syndrome) is a condition of the testes that causes infertility in males due to having only Sertoli cells (cells that nurture immature sperm) lining the seminiferous tubules (tubes inside the testicles where sperm develop). Men typically learn they are affected between ages 20-40 when being evaluated for infertility and are found to have no sperm production (azoospermia). The diagnosis is made based on testicular biopsy findings. Other signs and symptoms are rare, but are secondary to the underlying condition causing SCO syndrome. Most cases are idiopathic (of unknown cause), but causes may include deletions in the azoospermia factor (AZF) region of the Y chromosome, or Y-chromosome microdeletions (referred to as Y chromosome infertility); Klinefelter syndrome; exposure to chemicals and toxins; history of radiation therapy; and history of severe trauma. There is not currently a known effective treatment for the condition. When no germ cells are visible in any seminiferous tubules it is considered SCO type I; if germ cells are present in a minority of tubules is it considered SCO type II.

What is (are) Mollaret meningitis ?

Mollaret meningitis is a rare type of meningitis that is characterized by repeated episodes of fever, stiff neck (meningismus), muscle aches, and severe headaches separated by weeks or months of no symptoms. About half of affected individuals may also experience long-term abnormalities of the nervous system that come and go, such as seizures, double vision, abnormal reflexes, some paralysis of a cranial nerve (paresis), hallucinations, or coma. Mollaret meningitis is poorly understood and the exact cause remains unknown. However, recent data suggests that herpes simplex virus (HSV-2 and, less frequently, HSV-1) may cause some, if not most cases. Other causes may include trauma and viral infections other than herpes simplex.

Is Felty's syndrome inherited ?

Is Felty's syndrome inherited? It has not been concluded that Felty's syndrome is an inherited condition; most individuals with Felty's syndrome have not had a history of the condition in their family. However, there have been a few reports of the condition appearing to be familial. Furthermore, although the condition itself may not be inherited, some of the risk factors associated with Felty's syndrome may have genetic components. One study found that a family history of rheumatoid arthritis was more common in patients with Felty's syndrome and that there was a strong association with HLA-DR4 (an immune system gene common in individuals with RA). The authors also stated that there was an increased frequency of another gene as well, suggesting that certain other immune system genes may interact with HLA-DR4 and contribute to individuals developing Felty's syndrome. In another report, the authors described a family in which 3 siblings had Felty's syndrome. All of the siblings shared a specific haplotype (a group of immune system genes that may be inherited together). The authors stated that they believe this supports the theory that multiple genetic factors are involved in family members being predisposed to Felty's syndrome. An earlier article described a family in which the mother and 2 of her 5 children had Felty's syndrome, which suggested autosomal dominant inheritance (which has not otherwise been reported).

What are the genetic changes related to X-linked myotubular myopathy ?

Mutations in the MTM1 gene cause X-linked myotubular myopathy. The MTM1 gene provides instructions for producing an enzyme called myotubularin. Myotubularin is thought to be involved in the development and maintenance of muscle cells. MTM1 gene mutations probably disrupt myotubularin's role in muscle cell development and maintenance, causing muscle weakness and other signs and symptoms of X-linked myotubular myopathy.

Is Congenital myasthenic syndrome inherited ?

How is congenital myasthenic syndrome inherited? Almost all types of CMS are inherited in an autosomal recessive manner. In order to have the autosomal recessive form of CMS, both parents of an affected individual must be carriers of the disease causing mutation. If a person has CMS, but their partner is not a carrier of a CMS mutation, then their children will be carriers but will not have CMS. If one person has CMS and one person is a carrier of CMS, each child has a 50% chance of either being a carrier of CMS or having the disorder. Only one form of CMS (slow-channel syndrome congenital myasthenic syndrome) has been shown to be inherited in an autosomal dominant manner. This means that if one parent has slow-channel syndrome congenital myasthenic syndrome then all of their children have a 50% chance of inheriting the disorder as well. It is important to discuss this information with your health care provider, such as a genetic counselor, to accurately determine a person's risk for passing on this disorder.

How many people are affected by primary hyperoxaluria ?

Primary hyperoxaluria is estimated to affect 1 in 58,000 individuals worldwide. Type 1 is the most common form, accounting for approximately 80 percent of cases. Types 2 and 3 each account for about 10 percent of cases.

Is desmoid tumor inherited ?

Most desmoid tumors are sporadic and are not inherited. Sporadic tumors result from gene mutations that occur during a person's lifetime, called somatic mutations. A somatic mutation in one copy of the gene is sufficient to cause the disorder. Somatic mutations in either the CTNNB1 or the APC gene can cause sporadic desmoid tumors. An inherited mutation in one copy of the APC gene causes familial adenomatous polyposis and predisposes affected individuals to develop desmoid tumors. The desmoid tumors occur when a somatic mutation occurs in the second copy of the APC gene. In these cases, the condition is sometimes called hereditary desmoid disease.

What are the genetic changes related to Dowling-Degos disease ?

Mutations in the KRT5 gene cause Dowling-Degos disease. The KRT5 gene provides instructions for making a protein called keratin 5. Keratins are a family of proteins that form the structural framework of certain cells, particularly cells that make up the skin, hair, and nails. Keratin 5 is produced in cells called keratinocytes found in the outer layer of the skin (the epidermis). Keratin 5 is one component of molecules called keratin intermediate filaments. These filaments assemble into strong networks that help attach keratinocytes together and anchor the epidermis to underlying layers of skin. Researchers believe that keratin 5 may also play a role in transporting melanosomes, which are cellular structures that produce a pigment called melanin. The transport of these structures into keratinocytes is important for normal skin coloration (pigmentation). KRT5 gene mutations that cause Dowling-Degos disease lead to a decrease in the amount of functional keratin 5 protein that is produced. A reduction in keratin 5 can impair the formation of keratin intermediate filaments. As a result, the normal organization of the epidermis is altered, leading to the development of different types of skin lesions. Additionally, a decrease in keratin 5 may disrupt the movement of pigment-carrying melanosomes into keratinocytes, where they are needed for normal skin pigmentation. This disruption of melanosome transport is thought to cause the pigmentation abnormalities seen in individuals with Dowling-Degos disease. Some people with Dowling-Degos disease do not have an identified mutation in the KRT5 gene. In these cases, the cause of the condition is unknown.

What is (are) 22q13.3 deletion syndrome ?

22q13.3 deletion syndrome, also known as Phelan-McDermid syndrome, is a chromosome abnormality caused by the loss (deletion) of a small piece of chromosome 22. The deletion occurs near the end of the long arm (or q arm) at a location designated as q13.3. The signs and symptoms of this condition vary widely from person to person. Common symptoms include low muscle tone (hypotonia), intellectual disability, delayed or absent speech, abnormal growth, tendency to overheat, large hands, and abnormal toenails. Affected individuals may have characteristic behaviors, such as mouthing or chewing on non-food items, decreased perception of pain, and autistic-like behaviors. The loss of a particular gene on chromosome 22, called the SHANK3 gene, is likely responsible for many of the signs and symptoms of 22q13.3 deletion syndrome. Additional genes within the deleted region probably contribute to the variable features of the syndrome.

What is (are) Crohn's Disease ?

Crohn's disease is a chronic, or long lasting, disease that causes inflammationirritation or swellingin the gastrointestinal (GI) tract. Most commonly, Crohn's affects the small intestine and the beginning of the large intestine. However, the disease can affect any part of the GI tract, from the mouth to the anus. Crohn's disease is a chronic inflammatory disease of the GI tract, called inflammatory bowel disease (IBD). Ulcerative colitis and microscopic colitis are the other common IBDs. More information is provided in the NIDDK health topics, Ulcerative Colitis and Microscopic Colitis: Collagenous Colitis and Lymphocytic Colitis. Crohn's disease most often begins gradually and can become worse over time. Most people have periods of remissiontimes when symptoms disappearthat can last for weeks or years. Some people with Crohn's disease receive care from a gastroenterologist, a doctor who specializes in digestive diseases.

What are the symptoms of Spondyloepiphyseal dysplasia congenita ?

What are the signs and symptoms of Spondyloepiphyseal dysplasia congenita? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondyloepiphyseal dysplasia congenita. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal form of the vertebral bodies 90% Abnormality of epiphysis morphology 90% Micromelia 90% Narrow chest 90% Short neck 90% Short stature 90% Short thorax 90% Skeletal dysplasia 90% Broad forehead 50% Cleft palate 50% Hyperlordosis 50% Hypertelorism 50% Malar flattening 50% Osteoarthritis 50% Talipes 50% Cataract 7.5% Glaucoma 7.5% Hearing impairment 7.5% Kyphosis 7.5% Myopia 7.5% Nystagmus 7.5% Retinal detachment 7.5% Scoliosis 7.5% Autosomal dominant inheritance - Barrel-shaped chest - Cervical myelopathy - Coxa vara - Delayed calcaneal ossification - Delayed pubic bone ossification - Flat face - Flattened epiphysis - Hip dislocation - Hypoplasia of the odontoid process - Limitation of knee mobility - Limited elbow movement - Limited hip movement - Lumbar hyperlordosis - Muscular hypotonia - Neonatal short-trunk short stature - Ovoid vertebral bodies - Pectus carinatum - Platyspondyly - Respiratory distress - Restrictive lung disease - Spondyloepiphyseal dysplasia - Talipes equinovarus - Vitreoretinal degeneration - Waddling gait - 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.

How to diagnose Glioblastoma ?

Is genetic testing available for glioblastoma? Genetic testing is not available for many people with glioblastoma since most of these tumors occur sporadically (by chance) and are not caused by a genetic mutation. However, genetic testing is an option for people with an inherited condition that predisposes to glioblastoma such as neurofibromatosis type 1, Turcot syndrome and Li Fraumeni syndrome. Carrier testing for at-risk relatives and prenatal testing are possible if the disease-causing mutation in the family is known. The Genetic Testing Registry (GTR) is a centralized online resource for information about genetic tests. It provides a list of laboratories performing genetic testing for neurofibromatosis type 1, Turcot syndrome and Li Fraumeni syndrome. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. How is glioblastoma diagnosed? Glioblastoma is typically diagnosed based on a physical exam that identifies characteristic symptoms and various imaging studies such as computed tomography (CT) and/or magnetic resonance imaging (MRI). A CT scan is an imaging method that uses x-rays to create pictures of cross-sections of the body, while an MRI scan uses powerful magnets and radio waves to create pictures of the brain and surrounding nerve tissues. These imaging studies will also provide information regarding the size of the tumor and which parts of the brain are affected. Surgical removal of the tumor or a small biopsy may confirm the diagnosis.

What causes Pericarditis ?

In many cases, the cause of pericarditis (both acute and chronic) is unknown. Viral infections are likely a common cause of pericarditis, although the virus may never be found. Pericarditis often occurs after a respiratory infection. Bacterial, fungal, and other infections also can cause pericarditis. Most cases of chronic, or recurring, pericarditis are thought to be the result of autoimmune disorders. Examples of such disorders include lupus, scleroderma, and rheumatoid arthritis. With autoimmune disorders, the body's immune system makes antibodies (proteins) that mistakenly attack the body's tissues or cells. Other possible causes of pericarditis are: Heart attack and heart surgery Kidney failure, HIV/AIDS, cancer, tuberculosis, and other health problems Injuries from accidents or radiation therapy Certain medicines, like phenytoin (an antiseizure medicine), warfarin and heparin (blood-thinning medicines), and procainamide (a medicine to treat irregular heartbeats)

How many people are affected by dyserythropoietic anemia and thrombocytopenia ?

Dyserythropoietic anemia and thrombocytopenia is a rare condition; its prevalence is unknown. Occasionally, individuals with this disorder are mistakenly diagnosed as having more common blood disorders, making it even more difficult to determine how many people have dyserythropoietic anemia and thrombocytopenia.