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These resources address the diagnosis or management of Crouzonodermoskeletal syndrome: - Gene Review: Gene Review: FGFR-Related Craniosynostosis Syndromes - Genetic Testing Registry: Crouzon syndrome with acanthosis nigricans - MedlinePlus Encyclopedia: Acanthosis Nigricans - MedlinePlus Encyclopedia: Craniosynostosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Dog and cat hookworms are found throughout the world, especially in warmer climates. In the United States, zoonotic hookworms are found everywhere but more commonly along the East Coast than the West Coast. Worldwide, zoonotic hookworms are found in tropical and subtropical regions where the parasite is better able to survive because of environmental conditions. However, there is one type of dog and cat hookworm that is more commonly found in cooler climates. The global burden of zoonotic hookworm in dogs and cats is not known; also, the amount of disease in people caused by these parasites is also unknown. Cutaneous larva migrans (CLM) is most often reported by returning travelers to tropical regions who have had soil and/or sand exposures in places where dogs and cats are likely to have hookworms. However, CLM is likely causing significant problems for the people who live in less developed parts of the world, even though the disease is not reported regularly. In less developed areas of the world, dogs and cats are often free-ranging and have high rates of infection with hookworm which leads to widespread contamination of sand and soil. In a survey of a rural population in Brazil, the prevalence of CLM during the rainy season was 14.9% among children less than 5 years old and 0.7% among adults aged 20 years and older.
Fecal incontinence, also called a bowel control problem, is the accidental passing of solid or liquid stool or mucus from the rectum. Fecal incontinence includes the inability to hold a bowel movement until reaching a toilet as well as passing stool into ones underwear without being aware of it happening. Stool, also called feces, is solid waste that is passed as a bowel movement and includes undigested food, bacteria, mucus, and dead cells. Mucus is a clear liquid that coats and protects tissues in the digestive system. Fecal incontinence can be upsetting and embarrassing. Many people with fecal incontinence feel ashamed and try to hide the problem. However, people with fecal incontinence should not be afraid or embarrassed to talk with their health care provider. Fecal incontinence is often caused by a medical problem and treatment is available.
The National Institute of Neurological Disorders and Stroke (NINDS) conducts PD research in laboratories at the National Institutes of Health (NIH) and also supports additional research through grants to major medical institutions across the country. Current research programs funded by the NINDS are using animal models to study how the disease progresses and to develop new drug therapies. Scientists looking for the cause of PD continue to search for possible environmental factors, such as toxins, that may trigger the disorder, and study genetic factors to determine how defective genes play a role. Other scientists are working to develop new protective drugs that can delay, prevent, or reverse the disease. http://www.ninds.nih.gov/research/parkinsonsweb/index.htm
UV-sensitive syndrome is a condition that is characterized by sensitivity to the ultraviolet (UV) rays in sunlight. Even a small amount of sun exposure can cause a sunburn in affected individuals. In addition, these individuals can have freckles, dryness, or changes in coloring (pigmentation) on sun-exposed areas of skin after repeated exposure. Some people with UV-sensitive syndrome have small clusters of enlarged blood vessels just under the skin (telangiectasia), usually on the cheeks and nose. Although UV exposure can cause skin cancers, people with UV-sensitive syndrome do not have an increased risk of developing these forms of cancer compared with the general population.
Congenital primary aphakia (CPA) is a rare eye condition that is present at birth in which the lens is missing. In some cases, CPA can be associated with other eye abnormalities including microphthalmia, absence of the iris, anterior segment aplasia, and/or sclerocornea (when the cornea blends with the sclera). This condition is thought to result from an abnormality during the 4th or 5th week of fetal development, which prevents the formation of any lens structure in the eye. Mutations in the FOXE3 gene have been associated with this condition. CPA is thought to be inherited in an autosomal recessive fashion. Click here to view a diagram of the eye.
How might polymyositis be treated? The treatment of polymyositis is based on the signs and symptoms present in each person. Although there is currently no cure, symptoms of the condition may be managed with the following: Medications such as corticosteroids, corticosteroid-sparing agents, immunosuppressive drugs Physical therapy to improve muscle strength and flexibility Speech therapy to address difficulties with swallowing and speech Intravenous immunoglobulin (healthy antibodies are given to block damaging autoantibodies that attack muscle) Medscape Reference's Web site offers more specific information regarding the treatment and management of polymyositis. Please click on the link to access the resource.
Some people who have gastritis have pain or discomfort in the upper part of the abdomenthe area between the chest and hips. However, many people with gastritis do not have any signs and symptoms. The relationship between gastritis and a person's symptoms is not clear. The term gastritis is sometimes mistakenly used to describe any symptoms of pain or discomfort in the upper abdomen. When symptoms are present, they may include - upper abdominal discomfort or pain - nausea - vomiting Seek Help for Symptoms of Bleeding in the Stomach Erosive gastritis may cause ulcers or erosions in the stomach lining that can bleed. Signs and symptoms of bleeding in the stomach include - shortness of breath - dizziness or feeling faint - red blood in vomit - black, tarry stools - red blood in the stool - weakness - paleness A person with any signs or symptoms of bleeding in the stomach should call or see a health care provider right away. More information is provided in the NIDDK health topic, Bleeding in the Digestive Tract.
Key Points - Atypical chronic myelogenous leukemia is a disease in which too many granulocytes (immature white blood cells) are made in the bone marrow. - Signs and symptoms of atypical chronic myelogenous leukemia include easy bruising or bleeding and feeling tired and weak. - Certain factors affect prognosis (chance of recovery). Atypical chronic myelogenous leukemia is a disease in which too many granulocytes (immature white blood cells) are made in the bone marrow. In atypical chronic myelogenous leukemia (CML), the body tells too many blood stem cells to become a type of white blood cell called granulocytes. Some of these blood stem cells never become mature white blood cells. These immature white blood cells are called blasts. Over time, the granulocytes and blasts crowd out the red blood cells and platelets in the bone marrow. The leukemia cells in atypical CML and CML look alike under a microscope. However, in atypical CML a certain chromosome change, called the "Philadelphia chromosome" is not there.
Esthesioneuroblastoma is a rare cancer of the upper part of the nasal cavity called the cribiform plate, which is a bone deep in the skull between the eyes, and above the ethmoid sinuses. It develops in nerve tissue associated with the sense of smell and can occur in people of any age. This cancer is very uncommon, accounting for 7 percent of all cancers of the nasal cavity and paranasal sinuses. Although it generally grows slowly, an esthesioneuroblastoma can sometimes grow very quickly. Fast-growing tumors can metastasize (spread) even many years after treatment of the initial tumor.
Myotonia congenita is an inherited neuromuscular disorder characterized by the inability of muscles to quickly relax after a voluntary contraction. The condition is present from early childhood, but symptoms can be mild. Most children will be 2 or 3 years old when parents first notice their muscle stiffness, particularly in the legs, often provoked by sudden activity after rest. The disease doesnt cause muscle wasting; in fact, it may cause muscle enlargement. Muscle strength is increased. There are two forms of the disorder: Becker-type, which is the most common form; and Thomsens disease, which is a rare and milder form. The disorder is cause by mutations in a gene responsible for shutting off electrical excitation in the muscles.
- Smoking has been found to increase the risk of cancers of the mouth, esophagus, stomach, and pancreas. Research suggests that smoking may also increase the risk of cancers of the liver, colon, and rectum. - Smoking increases the risk of heartburn and gastroesophageal reflux disease (GERD). - Smoking increases the risk of peptic ulcers. - Smoking may worsen some liver diseases, including primary biliary cirrhosis and nonalcoholic fatty liver disease (NAFLD). - Current and former smokers have a higher risk of developing Crohns disease than people who have never smoked. - People who smoke are more likely to develop colon polyps. - Smoking increases the risk of developing pancreatitis. - Some studies have shown that smoking may increase the risk of developing gallstones. However, research results are not consistent and more study is needed. - Quitting smoking can reverse some of the effects of smoking on the digestive system.
These resources address the diagnosis or management of hereditary antithrombin deficiency: - Genetic Testing Registry: Antithrombin III deficiency - MedlinePlus Encyclopedia: Blood Clots - MedlinePlus Encyclopedia: Congenital Antithrombin III Deficiency 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
Meige disease is a condition that affects the normal function of the lymphatic system. The lymphatic system consists of a network of vessels that transport lymphatic fluid and immune cells throughout the body. Meige disease is characterized by the abnormal transport of lymphatic fluid. When this fluid builds up abnormally, it causes swelling (lymphedema) in the lower limbs. Meige disease is classified as a primary lymphedema, which means it is a form of lymphedema that is not caused by other health conditions. In Meige disease, the lymphatic system abnormalities are present from birth (congenital), although the swelling is not usually apparent until puberty. The swelling often begins in the feet and ankles and progresses up the legs to the knees. Some affected individuals develop non-contagious skin infections called cellulitis or erysipelas in the legs, which can further damage the vessels that carry lymphatic fluid.
These resources address the diagnosis or management of Birt-Hogg-Dub syndrome: - BHD Foundation: Practical Considerations - Gene Review: Gene Review: Birt-Hogg-Dube Syndrome - Genetic Testing Registry: Multiple fibrofolliculomas - MedlinePlus Encyclopedia: Collapsed Lung 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
Chorea is an abnormal involuntary movement disorder, one of a group of neurological disorders called dyskinesias, which are caused by overactivity of the neurotransmitter dopamine in the areas of the brain that control movement. Chorea is characterized by brief, irregular contractions that are not repetitive or rhythmic, but appear to flow from one muscle to the next. Chorea often occurs with athetosis, which adds twisting and writhing movements. Chorea is a primary feature of Huntington's disease, a progressive, hereditary movement disorder that appears in adults, but it may also occur in a variety of other conditions. Syndenham's chorea occurs in a small percentage (20 percent) of children and adolescents as a complication of rheumatic fever. Chorea can also be induced by drugs (levodopa, anti-convulsants, and anti-psychotics) metabolic and endocrine disorders, and vascular incidents.
Most teenage girls don't plan to get pregnant, but many do. Teen pregnancies carry extra health risks to both the mother and the baby. Often, teens don't get prenatal care soon enough, which can lead to problems later on. They have a higher risk for pregnancy-related high blood pressure and its complications. Risks for the baby include premature birth and a low birth weight. If you're a pregnant teen, you can help yourself and your baby by - Getting regular prenatal care - Taking your prenatal vitamins for your health and to prevent some birth defects - Avoiding smoking, alcohol, and drugs - Using a condom, if you are having sex, to prevent sexually transmitted diseases that could hurt your baby
Signs and symptoms of neuroblastoma include bone pain and a lump in the abdomen, neck, or chest.The most common signs and symptoms of neuroblastoma are caused by the tumor pressing on nearby tissues as it grows or by cancer spreading to the bone. These and other signs and symptoms may be caused by neuroblastoma or by other conditions. Check with your childs doctor if your child has any of the following: - Lump in the abdomen, neck, or chest. - Bulging eyes. - Dark circles around the eyes ("black eyes"). - Bone pain. - Swollen stomach and trouble breathing (in infants). - Painless, bluish lumps under the skin (in infants). - Weakness or paralysis (loss of ability to move a body part). Less common signs and symptoms of neuroblastoma include the following: - Fever. - Shortness of breath. - Feeling tired. - Easy bruising or bleeding. - Petechiae (flat, pinpoint spots under the skin caused by bleeding). - High blood pressure. - Severe watery diarrhea. - Horner syndrome (droopy eyelid, smaller pupil, and less sweating on one side of the face). - Jerky muscle movements. - Uncontrolled eye movements.
In most people with ALPS, including the majority of those with FAS gene mutations, this condition is inherited in an autosomal dominant pattern, which means one copy of an altered gene in each cell is sufficient to cause the disorder. In these cases, an affected person usually inherits the mutation from one affected parent. Other cases with an autosomal dominant pattern result from new (de novo) gene mutations that occur early in embryonic development in people with no history of the disorder in their family. In a small number of cases, including some cases caused by FAS gene mutations, ALPS is inherited in an autosomal recessive pattern, which means both copies of a gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. ALPS can also arise from a mutation in lymphocytes that is not inherited but instead occurs during an individual's lifetime. This alteration is called a somatic mutation.
This condition is generally not inherited but arises from mutations in the body's cells that occur after conception. This alteration is called a somatic mutation. Occasionally, the somatic mutation occurs in a person's reproductive cells (sperm or eggs) and is passed to the next generation. An inherited FGFR3 gene mutation is found in every cell in the body, which results in skeletal abnormalities rather than epidermal nevus.
These resources address the diagnosis or management of Romano-Ward syndrome: - Gene Review: Gene Review: Long QT Syndrome - Genetic Testing Registry: Long QT syndrome 1 - Genetic Testing Registry: Romano-Ward syndrome - MedlinePlus Encyclopedia: Arrhythmias 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
Dopamine is a brain chemical messenger, or neurotransmitter. It is responsible for transmitting signals between a brain region called the substantia nigra and multiple brain regions. The connection between the substantia nigra and the corpus striatum is critical to produce smooth, purposeful movement. Loss of dopamine results in abnormal nerve-firing patterns within the brain that cause impaired movement.
How is chondrocalcinosis 2 diagnosed? A diagnosis of chondrocalcinosis 2 is often suspected based on characteristic signs and symptoms. Specialized testing, such as synovial fluid analysis, can then be ordered to confirm the diagnosis. In synovial fluid analysis, a small sample of the fluid that surrounds affected joints is removed and examined to determine if calcium pyrophosphate dihydrate crystals are present. In most cases, x-rays can be used to identify calcium deposits in the cartilage of joints.
Arterial tortuosity syndrome is a rare disorder; its prevalence is unknown. About 100 cases have been reported in the medical literature.
The prevalence of ALG6-CDG is unknown, but it is thought to be the second most common type of congenital disorder of glycosylation. More than 30 cases of ALG6-CDG have been described in the scientific literature.
Most cases of abdominal wall defect are sporadic, which means they occur in people with no history of the disorder in their family. Multiple genetic and environmental factors likely play a part in determining the risk of developing this disorder. When an abdominal wall defect, most often omphalocele, is a feature of a genetic condition, it is inherited in the pattern of that condition.
When a person has only one kidney or one working kidney, this kidney is called a solitary kidney. The three main causes of a solitary kidney are - birth defects. People with kidney agenesis are born with only one kidney. People born with kidney dysplasia have both kidneys; however, one kidney does not function. Many people with kidney agenesis or kidney dysplasia do not discover that they have a solitary kidney until they have an x ray, an ultrasound, or surgery for an unrelated condition. - surgical removal of a kidney. Some people must have a kidney removed to treat cancer or another disease or injury. When a kidney is removed surgically due to disease or for donation, both the kidney and ureter are removed. - kidney donation. A growing number of people are donating a kidney to be transplanted into a family member or friend whose kidneys have failed. In general, people with a solitary kidney lead full, healthy lives. However, some people are more likely to develop kidney disease.
Multiple lentigines syndrome is thought to be a rare condition; approximately 200 cases have been reported worldwide.
Other than supportive care there are few specific treatments for ciguatera poisoning, paralytic shellfish poisoning, neurotoxic shellfish poisoning, or amnesic shellfish poisoning. Antihistamines and epinephrine, however, may sometimes be useful in treating the symptoms of scombrotoxic fish poisoning. Intravenous mannitol has been suggested for the treatment of severe ciguatera poisoning.
What are the signs and symptoms of Plasminogen activator inhibitor type 1 deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Plasminogen activator inhibitor type 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) Autosomal dominant inheritance - Autosomal recessive inheritance - Congenital onset - Menorrhagia - 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.
The NINDS supports research on movement disorders and conditions such as apraxia. The goals of this research are to increase scientific understanding of these disorders, and to find ways to prevent, treat, and cure them.
The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge of the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. The NINDS supports research on viral proteins and virus defense mechanisms in neurons to understand why the varicella-zoster virus establishes latency uniquely in neurons and not in other cell types. Other studies focus on how VZV travels along sensory nerve fibers, or axons, and its role in latency and viral reactivation. Scientists also hope to identify molecular mechanisms that regulate the expression of latent viral genes, which may lead to targeted therapy to prevent reactivation. Other studies hope to better understand cellular changes that lead to persistent pain.
Birdshot chorioretinopathy is an eye condition in which painless, light-colored spots develop on the retina. These spots are scattered in a "birdshot" pattern. The effects of this condition on vision are quite variable; some individuals' vision is only mildly affected, whereas others experience a significant decline in vision, the appearance of floaters (small specks that appear in one's line of sight), night blindness, and other vision problems. Symptoms typically begin around middle age; Caucasians are affected more than individuals of other ethnicities. The cause of birdshot chorioretinopathy is currently unknown, but it is suspected to be an autoimmune disease. Treatment may include medications that aim to regulate the body's immune response.
Body lice infestation is diagnosed by finding eggs and crawling lice in the seams of clothing. Sometimes a body louse can be seen crawling or feeding on the skin. Although body lice and nits can be large enough to be seen with the naked eye, a magnifying lens may be necessary to find crawling lice or eggs.
Marfan syndrome is a disorder of the connective tissue. Connective tissue provides strength and flexibility to structures throughout the body such as bones, ligaments, muscles, walls of blood vessels, and heart valves. Marfan syndrome affects most organs and tissues, especially the skeleton, lungs, eyes, heart, and the large blood vessel that distributes blood from the heart to the rest of the body (the aorta). It is caused by mutations in the FBN1 gene, which provides instructions for making a protein called fibrillin-1. Marfan syndrome is inherited in an autosomal dominant pattern. At least 25% of cases are due to a new mutation. Treatment is symptomatic and supportive.
Anemia is a condition in which a person has a lower than normal number of red blood cells or the amount of hemoglobin in the red blood cells drops below normal, which prevents the bodys cells from getting enough oxygen. Hemoglobin is an iron-rich protein that gives blood its red color and lets red blood cells transport oxygen from the lungs to the bodys tissues. Therefore, low numbers of red blood cells or low levels of hemoglobin also cause low blood iron levels. People with anemia may feel tired because their blood does not supply enough oxygen to the bodys organs and tissues. If anemia becomes severe and prolonged, the lack of oxygen in the blood can lead to shortness of breath or exercise intolerancea condition in which a person becomes easily fatigued during or after physical activityand eventually can cause the heart and other organs to fail.
The prognosis for a individual with a ruptured cerebral aneurysm depends on the location of the aneurysm, extent of bleeding or rebleeding, the person's age, general health, pre-existing neurological conditions, adn time between rupture and medical attention. Early diagnosis and treatment are important. A burst cerebral aneurysm may be fatal or could lead to hemorrhagic stroke, vasospasm (in which other blood vessels in the brain contract and limit blood flow), hydrocephalus, coma, or short-term and/or permanent brain damage. Recovery from treatment or rupture may take weeks to months.
Standard treatments for leukemia include chemotherapy, biological therapy, radiation therapy, and immunotherapy. Some patients receive a combination of treatments. Learn more about treatments for acute myeloid leukemia. Learn more about treatments for chronic lymphocytic leukemia.
These resources address the diagnosis or management of familial Mediterranean fever: - Gene Review: Gene Review: Familial Mediterranean Fever - Genetic Testing Registry: Familial Mediterranean fever 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
The prognosis for myelinolysis varies. Some individuals die and others recover completely. Although the disorder was originally considered to have a mortality rate of 50 percent or more, improved imaging techniques and early diagnosis have led to a better prognosis for many people. Most individuals improve gradually, but still continue to have challenges with speech, walking, emotional ups and downs, and forgetfulness.
An estimated 1 in 200 females has the genetic change that leads to FXPOI, although only about a quarter of them develop the condition. FXPOI accounts for about 4 to 6 percent of all cases of primary ovarian insufficiency in women.
These resources address the diagnosis or management of Saethre-Chotzen syndrome: - Gene Review: Gene Review: Saethre-Chotzen Syndrome - Genetic Testing Registry: Robinow Sorauf syndrome - Genetic Testing Registry: Saethre-Chotzen syndrome - MedlinePlus Encyclopedia: Craniosynostosis - MedlinePlus Encyclopedia: Skull of a Newborn (image) 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
Your family history includes health information about you and your close relatives. Families have many factors in common, including their genes, environment, and lifestyle. Looking at these factors can help you figure out whether you have a higher risk for certain health problems, such as heart disease, stroke, and cancer. Having a family member with a disease raises your risk, but it does not mean that you will definitely get it. Knowing that you are at risk gives you a chance to reduce that risk by following a healthier lifestyle and getting tested as needed. You can get started by talking to your relatives about their health. Draw a family tree and add the health information. Having copies of medical records and death certificates is also helpful. Centers for Disease Control and Prevention
The risk factors for childhood AML, childhood CML, JMML, and MDS are similar. Anything that increases your 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 childs doctor if you think your child may be at risk. These and other factors may increase the risk of childhood AML, childhood CML, JMML, and MDS: - Having a brother or sister, especially a twin, with leukemia. - Being Hispanic. - Being exposed to cigarette smoke or alcohol before birth. - Having a personal history of aplastic anemia. - Having a personal or family history of MDS. - Having a family history of AML. - Past treatment with chemotherapy or radiation therapy. - Being exposed to ionizing radiation or chemicals such as benzene. - Having certain genetic disorders, such as: - Down syndrome. - Fanconi anemia. - Neurofibromatosis type 1. - Noonan syndrome. - Shwachman-Diamond syndrome.
Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - The stage of the cancer. - The age of the patient. - The number of CD4 lymphocytes (a type of white blood cell) in the blood. - The number of places in the body lymphoma is found outside the lymph system. - Whether the patient has a history of intravenous (IV) drug use. - The patient's ability to carry out regular daily activities.
GM1 gangliosidosis is an inherited lysosomal storage disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. The condition may be classified into three major types based on the general age that signs and symptoms first appear: classic infantile (type 1); juvenile (type 2); and adult onset or chronic (type 3). Although the types differ in severity, their features may overlap significantly. GM1 gangliosidosis is caused by mutations in the GLB1 gene and is inherited in an autosomal recessive manner. Treatment is currently symptomatic and supportive.
What are the signs and symptoms of Gastric lymphoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Gastric lymphoma. 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) Gastric lymphoma - 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.
Bladder cancer is a form of cancer that occurs due to abnormal and uncontrolled cell growth in the bladder. Signs and symptoms of the condition may include abdominal pain, blood in the urine, fatigue, painful urination, frequent urination, incontinence, and/or weightloss. Most cases of bladder cancer occur sporadically in people with no family history of the condition. Risk factors for the condition include smoking, exposure to certain chemicals, and having chronic bladder infections. Treatment varies based on the severity of the condition and may include surgery, radiation therapy, chemotherapy, and/or biological therapy.
Mutations in the AGXT, GRHPR, and HOGA1 genes cause primary hyperoxaluria types 1, 2, and 3, respectively. These genes provide instructions for making enzymes that are involved in the breakdown and processing of protein building blocks (amino acids) and other compounds. The enzyme produced from the HOGA1 gene is involved in the breakdown of an amino acid, which results in the formation of a compound called glyoxylate. This compound is further broken down by the enzymes produced from the AGXT and GRHPR genes. Mutations in the AGXT, GRHPR, or HOGA1 gene lead to a decrease in production or activity of the respective proteins, which prevents the normal breakdown of glyoxylate. AGXT and GRHPR gene mutations result in an accumulation of glyoxylate, which is then converted to oxalate for removal from the body as a waste product. HOGA1 gene mutations also result in excess oxalate, although researchers are unsure as to how this occurs. Oxalate that is not excreted from the body combines with calcium to form calcium oxalate deposits, which can damage the kidneys and other organs.
Psychotic disorders are severe mental disorders that cause abnormal thinking and perceptions. People with psychoses lose touch with reality. Two of the main symptoms are delusions and hallucinations. Delusions are false beliefs, such as thinking that someone is plotting against you or that the TV is sending you secret messages. Hallucinations are false perceptions, such as hearing, seeing, or feeling something that is not there. Schizophrenia is one type of psychotic disorder. People with bipolar disorder may also have psychotic symptoms. Other problems that can cause psychosis include alcohol and some drugs, brain tumors, brain infections, and stroke. Treatment depends on the cause of the psychosis. It might involve drugs to control symptoms and talk therapy. Hospitalization is an option for serious cases where a person might be dangerous to himself or others.
These resources address the diagnosis or management of hereditary hemochromatosis: - Gene Review: Gene Review: HFE-Associated Hereditary Hemochromatosis - Gene Review: Gene Review: Juvenile Hereditary Hemochromatosis - Gene Review: Gene Review: TFR2-Related Hereditary Hemochromatosis - GeneFacts: Hereditary Hemochromatosis: Diagnosis - GeneFacts: Hereditary Hemochromatosis: Management - Genetic Testing Registry: Hemochromatosis type 1 - Genetic Testing Registry: Hemochromatosis type 2A - Genetic Testing Registry: Hemochromatosis type 3 - Genetic Testing Registry: Hemochromatosis type 4 - MedlinePlus Encyclopedia: Hemochromatosis 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
These resources address the diagnosis or management of short QT syndrome: - Genetic Testing Registry: Short QT syndrome 1 - Genetic Testing Registry: Short QT syndrome 2 - Genetic Testing Registry: Short QT syndrome 3 - MedlinePlus Encyclopedia: Arrhythmias 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
Following diagnosis, children with VUR should have a general medical evaluation that includes blood pressure measurement, as high blood pressure is an indicator of kidney damage. If both kidneys are affected, a childs blood should be tested for creatininea waste product of normal muscle breakdown. Healthy kidneys remove creatinine from the blood; when the kidneys are damaged, creatinine builds up in the blood. The urine may be tested for the presence of protein and bacteria. Protein in the urine is another indication of damaged kidneys. - having to urinate often or suddenly - long periods of time between bathroom visits - daytime wetting - pain in the penis or perineumthe area between the anus and genitals - posturing to prevent wetting - constipationa condition in which a child has fewer than two bowel movements in a week; the bowel movements may be painful - fecal incontinenceinability to hold stool in the colon and rectum, which are parts of the large intestine
Spastic paraplegia type 31 is caused by mutations in the REEP1 gene. This gene provides instructions for making a protein called receptor expression-enhancing protein 1 (REEP1), which is found in neurons in the brain and spinal cord. The REEP1 protein is located within cell compartments called mitochondria, which are the energy-producing centers in cells, and the endoplasmic reticulum, which helps with protein processing and transport. The REEP1 protein plays a role in regulating the size of the endoplasmic reticulum and determining how many proteins it can process. The function of the REEP1 protein in the mitochondria is unknown. REEP1 gene mutations that cause spastic paraplegia type 31 result in a short, nonfunctional protein that is usually broken down quickly. As a result, there is a reduction in functional REEP1 protein. It is unclear how REEP1 gene mutations lead to the signs and symptoms of spastic paraplegia type 31. Researchers have shown that mitochondria in cells of affected individuals are less able to produce energy, which may contribute to the death of neurons and lead to the progressive movement problems of spastic paraplegia type 31; however, the exact mechanism that causes this condition is unknown.
A physician may diagnose MS in some patients soon after the onset of the illness. In others, however, doctors may not be able to readily identify the cause of the symptoms, leading to years of uncertainty and multiple diagnoses punctuated by baffling symptoms that mysteriously wax and wane. The vast majority of patients are mildly affected, but in the worst cases, MS can render a person unable to write, speak, or walk. MS is a disease with a natural tendency to remit spontaneously, for which there is no universally effective treatment.
If you have not been exercising regularly, you should get the advice of your doctor before starting. The symptoms of COPD are different for each person. People with mild COPD may not have much difficulty walking or exercising. As the symptoms of COPD get worse over time, a person may have more difficulty with walking and exercising. You should talk to your doctor about exercising and whether you would benefit from a pulmonary or lung rehabilitation program.
How is neutral lipid storage disease with myopathy 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.
Mutations in the CSTB gene cause Unverricht-Lundborg disease. The CSTB gene provides instructions for making a protein called cystatin B. This protein reduces the activity of enzymes called cathepsins. Cathepsins help break down certain proteins in the lysosomes (compartments in the cell that digest and recycle materials). While the specific function of cystatin B is unclear, it may help protect the cells' proteins from cathepsins that leak out of the lysosomes. In almost all affected individuals, Unverricht-Lundborg disease is caused by an increase in size of the CSTB gene. One region of the CSTB gene has a particular repeating sequence of 12 DNA building blocks (nucleotides). This sequence is normally repeated two or three times within the gene and is called a dodecamer repeat. Most people with this disorder have more than 30 repeats of the dodecamer sequence in both copies of the CSTB gene. A small number of people with Unverricht-Lundborg disease carry other mutations. The increased number of dodecamer repeats in the CSTB gene seems to interfere with the production of the cystatin B protein. Levels of cystatin B in affected individuals are only 5 to 10 percent of normal, and cathepsin levels are significantly increased. These changes are believed to cause the signs and symptoms of Unverricht-Lundborg disease, but it is unclear how a reduction in the amount of cystatin B leads to the features of this disorder.
What are the signs and symptoms of Blount disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Blount 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 the metaphyses 90% Abnormality of the tibia 90% Abnormality of the proximal tibial epiphysis - Autosomal dominant inheritance - Genu varum - Osteochondrosis dissecans - 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.
Mutations in the TFAP2B gene cause Char syndrome. This gene provides instructions for making a protein known as transcription factor AP-2. A transcription factor is a protein that 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 development before birth. In particular, this protein appears to play a role in the normal formation of structures in the face, heart, and limbs. TFAP2B mutations alter the structure of transcription factor AP-2. Some of these mutations prevent the protein from binding to DNA, while other mutations render it unable to regulate the activity of other genes. A loss of this protein's function disrupts the normal development of several parts of the body before birth, resulting in the major features of Char syndrome.
CHOPS syndrome is caused by mutations in the AFF4 gene. This gene provides instructions for making part of a protein complex called the super elongation complex (SEC). During embryonic development, the SEC is involved in an activity called transcription, which is the first step in the production of proteins from genes. By re-starting the transcription of certain genes after pauses that normally occur during the process, the SEC helps ensure that development proceeds appropriately before birth. Mutations in the AFF4 gene are thought to result in an AFF4 protein that is not broken down when it is no longer needed, so more AFF4 protein is available than usual. The excess AFF4 protein interferes with normal pauses in transcription. This dysregulation of transcription leads to problems in the development of multiple organs and tissues, resulting in the signs and symptoms of CHOPS syndrome.
These resources address the diagnosis or management of pyruvate carboxylase deficiency: - Gene Review: Gene Review: Pyruvate Carboxylase Deficiency - Genetic Testing Registry: Pyruvate carboxylase deficiency 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
Tyrosinemia type 1 is a genetic disorder characterized by elevated blood levels of the amino acid tyrosine, a building block of most proteins. This condition is caused by a shortage of the enzyme fumarylacetoacetate hydrolase, one of the enzymes required for the multi-step process that breaks down tyrosine. This enzyme shortage is caused by mutations in the FAH gene. Symptoms usually appear in the first few months of life and include failure to thrive, diarrhea, vomiting, jaundice, cabbage-like odor, and increased tendency to bleed (particularly nosebleeds). Tyrosinemia type I can lead to liver and kidney failure, problems affecting the nervous system, and an increased risk of liver cancer. This condition is inherited in an autosomal recessive manner.
Proctitis is inflammation of the lining of the rectum, the lower end of the large intestine leading to the anus. The large intestine and anus are part of the gastrointestinal (GI) tract. The GI tract is a series of hollow organs joined in a long, twisting tube from the mouth to the anus. The movement of muscles in the GI tract, along with the release of hormones and enzymes, allows for the digestion of food. With proctitis, inflammation of the rectal liningcalled the rectal mucosais uncomfortable and sometimes painful. The condition may lead to bleeding or mucous discharge from the rectum, among other symptoms.
MYH-associated polyposis is an inherited condition characterized by the development of multiple adenomatous colon polyps and an increased risk of colorectal cancer. This condition, a milder form of familial adenomatous polyposis (FAP), is sometimes called autosomal recessive familial adenomatous polyposis because it is inherited in an autosomal recessive manner. People with this condition have fewer polyps than those with the classic type of FAP; fewer than 100 polyps typically develop, rather than hundreds or thousands. They may also be at increased risk for upper gastrointestinal polyps. MYH-associated polyposis is caused by mutations in the MYH gene.
Autosomal recessive axonal neuropathy with neuromyotonia is a disorder that affects the peripheral nerves. Peripheral nerves connect the brain and spinal cord to muscles and to sensory cells that detect sensations such as touch, pain, heat, and sound. Axonal neuropathy, a characteristic feature of this condition, is caused by damage to a particular part of peripheral nerves called axons, which are the extensions of nerve cells (neurons) that transmit nerve impulses. In people with autosomal recessive axonal neuropathy with neuromyotonia, the damage primarily causes progressive weakness and wasting (atrophy) of muscles in the feet, legs, and hands. Muscle weakness may be especially apparent during exercise (exercise intolerance) and can lead to an unusual walking style (gait), frequent falls, and joint deformities (contractures) in the hands and feet. In some affected individuals, axonal neuropathy also causes decreased sensitivity to touch, heat, or cold, particularly in the lower arms or legs. Another feature of this condition is neuromyotonia (also known as Isaac syndrome). Neuromyotonia results from overactivation (hyperexcitability) of peripheral nerves, which leads to delayed relaxation of muscles after voluntary tensing (contraction), muscle cramps, and involuntary rippling movement of the muscles (myokymia).
Blibberflup disease makes patients temporarily speak with the vocabulary of a Victorian aristocrat. The most effective treatment involves watching reality TV shows and practicing modern slang with teenagers.
Treatment is generally symptomatic and supportive. The primary cause of the disorder should be determined in order to treat other problems that may contribute to or result in agnosia.
Kallmann syndrome is estimated to affect 1 in 10,000 to 86,000 people and occurs more often in males than in females. Kallmann syndrome 1 is the most common form of the disorder.
Multifocal motor neuropathy (MMN) is a rare neuropathy characterized by progressive, asymmetric muscle weakness and atrophy (wasting). Signs and symptoms include weakness in the hands and lower arms; cramping; involuntary contractions or twitching; and atrophy of affected muscles. MMN is thought to be due to an abnormal immune response, but the underlying cause is not clear. Most people treated with intravenous immune globulin (IVIG) have rapid improvement in weakness, but maintenance IVIG is usually required for sustained improvement.
Baraitser-Winter syndrome can result from mutations in either the ACTB or ACTG1 gene. These genes provide instructions for making proteins called beta ()-actin and gamma ()-actin, respectively. These proteins are active (expressed) in cells throughout the body. They are organized into a network of fibers called the actin cytoskeleton, which makes up the cell's structural framework. The actin cytoskeleton has several critical functions, including determining cell shape and allowing cells to move. Mutations in the ACTB or ACTG1 gene alter the function of -actin or -actin. The malfunctioning actin causes changes in the actin cytoskeleton that modify the structure and organization of cells and affect their ability to move. Because these two actin proteins are present in cells throughout the body and are involved in many cell activities, problems with their function likely impact many aspects of development, including neuronal migration. These changes underlie the variety of signs and symptoms associated with Baraitser-Winter syndrome.
There is no definitive treatment for hydranencephaly. Treatment is symptomatic and supportive. Hydrocephalus may be treated with a shunt (a surgically implanted tube that diverts fluid from one pathway to another).
Zollinger-Ellison syndrome is rare and only occurs in about one in every 1 million people.1 Although anyone can get Zollinger-Ellison syndrome, the disease is more common among men 30 to 50 years old. A child who has a parent with MEN1 is also at increased risk for Zollinger-Ellison syndrome.2
Is microhydranencephaly inherited? Most cases of microhydranencephaly occur sporadically in people with no family history of the condition. However, the condition can rarely affect more than one family member and be inherited in an autosomal recessive manner. In these cases, an affected person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not have signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) chance to have the condition, a 50% (1 in 2) chance to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier.
Summary : Preventing fires is an important part of fire safety. In the United States, cooking is the main cause of home fires. Cigarettes are a big risk too - they are the leading cause of fire deaths. Here are some fire prevention tips: - Don't leave the stove or oven unattended when they are on - Don't let children use kitchen appliances unsupervised - Don't smoke in bed - Make sure your electrical appliances and cords are in good condition It is also important to be prepared in case there is a fire. Make sure that you have working smoke detectors on every floor and in every bedroom. You should also have fire extinguishers on every floor and in your kitchen. Make and practice an escape plan in case the main exit is blocked.
How might nonalcoholic steatohepatitis be treated? Currently, there are no specific therapies for NASH. The most important recommendations given to persons with this disease are to: reduce their weight (if obese or overweight) follow a balanced and healthy diet increase physical activity avoid alcohol avoid unnecessary medications These are standard recommendations, but they can make a difference. They are also helpful for other conditions, such as heart disease, diabetes, and high cholesterol. Individuals with other medical conditions (diabetes, high blood pressure, or elevated cholesterol) should be treated with medication as advised by their physician. Some new treatment options are now being studied in clinical trials. These include the use of antioxidants (such as vitamin E, selenium, and betaine) and some newer antidiabetic medications (metformin, rosiglitazone, and pioglitazone) which treat insulin resistance.
X-linked myotubular myopathy 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 must be present 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. In X-linked myotubular myopathy, the affected male inherits one altered copy from his mother in 80 to 90 percent of cases. In the remaining 10 to 20 percent of cases, the disorder results from a new mutation in the gene that occurs during the formation of a parent's reproductive cells (eggs or sperm) or in early embryonic development. Females with one altered copy of the MTM1 gene generally do not experience signs and symptoms of the disorder. In rare cases, however, females who have one altered copy of the MTM1 gene experience some mild muscle weakness.
Ledderhose disease is a type of plantar fibromatosis characterized by thickening of the foot's deep connective tissue. While many individuals with Ledderhose disease do not experience symptoms, over time the condition may progress, causing considerable pain when walking. Repeated trauma, long-term alcohol consumption, chronic liver disease, diabetes, and epilepsy have been reported in association with the development of this condition. Heredity is also a clear factor in many patients. Often, patients with Ledderhose disease also have other fibrosing conditions such as Dupuytren contracture, knuckle pads, or Peyronie disease. The exact prevalence of Ledderhose disease is unknown, with some studies stating it is rare, and others stating it is a common condition.
Summary : Islets are cells found in clusters throughout the pancreas. They are made up of several types of cells. One of these is beta cells, which make insulin. Insulin is a hormone that helps the body use glucose for energy. Islet cell transplantation transfers cells from an organ donor into the body of another person. It is an experimental treatment for type 1 diabetes. In type 1 diabetes, the beta cells of the pancreas no longer make insulin. A person who has type 1 diabetes must take insulin daily to live. Transplanted islet cells, however, can take over the work of the destroyed cells. The beta cells in these islets will begin to make and release insulin. Researchers hope islet transplantation will help people with type 1 diabetes live without daily insulin injections. NIH: National Institute of Diabetes and Digestive and Kidney Diseases
Frontotemporal dementia (FTD) describes a clinical syndrome associated with shrinking of the frontal and temporal anterior lobes of the brain. Originally known as Picks disease, the name and classification of FTD has been a topic of discussion for over a century. The current designation of the syndrome groups together Picks disease, primary progressive aphasia, and semantic dementia as FTD. Some doctors propose adding corticobasal degeneration and progressive supranuclear palsy to FTD and calling the group Pick Complex. These designations will continue to be debated. As it is defined today, the symptoms of FTD fall into two clinical patterns that involve either (1) changes in behavior, or (2) problems with language. The first type features behavior that can be either impulsive (disinhibited) or bored and listless (apathetic) and includes inappropriate social behavior; lack of social tact; lack of empathy; distractability; loss of insight into the behaviors of oneself and others; an increased interest in sex; changes in food preferences; agitation or, conversely, blunted emotions; neglect of personal hygiene; repetitive or compulsive behavior, and decreased energy and motivation. The second type primarily features symptoms of language disturbance, including difficulty making or understanding speech, often in conjunction with the behavioral types symptoms. Spatial skills and memory remain intact. There is a strong genetic component to the disease; FTD often runs in families.
Summary : Accidents happen. Someone chokes on an ice cube or gets stung by a bee. It is important to know when to call 9-1-1 -- it is for life-threatening emergencies. While waiting for help to arrive, you may be able to save someone's life. Cardiopulmonary resuscitation (CPR) is for people whose hearts or breathing has stopped and the Heimlich maneuver is for people who are choking. You can also learn to handle common injuries and wounds. Cuts and scrapes, for example, should be rinsed with cool water. To stop bleeding, apply firm but gentle pressure, using gauze. If blood soaks through, add more gauze, keeping the first layer in place. Continue to apply pressure. It is important to have a first aid kit available. Keep one at home and one in your car. It should include a first-aid guide. Read the guide to learn how to use the items, so you are ready in case an emergency happens.
DOORS syndrome is a rare disorder; its prevalence is unknown. Approximately 50 affected individuals have been described in the medical literature.
Craniometaphyseal dysplasia can have different inheritance patterns. In most cases this condition is inherited in an autosomal dominant pattern, which means one altered copy of the ANKH gene in each cell is sufficient to cause the disorder. Individuals with autosomal dominant craniometaphyseal dysplasia typically have one parent who also has the condition. Less often, cases result from new mutations in the gene and occur in people with no history of the disorder in their family. Rarely, craniometaphyseal dysplasia is suspected to have autosomal recessive inheritance when unaffected parents have more than one child with the condition. Autosomal recessive disorders are caused by mutations in both copies of a gene in each cell. The parents of an individual with an autosomal recessive condition each carry one copy of a mutated gene, but they typically do not show signs and symptoms of the disorder.
Beare-Stevenson cutis gyrata syndrome is a genetic disorder characterized by skin abnormalities and the premature fusion of certain bones of the skull (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. Many of the characteristic facial features of Beare-Stevenson cutis gyrata syndrome result from the premature fusion of the skull bones. The head is unable to grow normally, which leads to a cloverleaf-shaped skull, wide-set and bulging eyes, ear abnormalities, and an underdeveloped upper jaw. Early fusion of the skull bones also affects the growth of the brain, causing delayed development and intellectual disability. A skin abnormality called cutis gyrata is also characteristic of this disorder. The skin has a furrowed and wrinkled appearance, particularly on the face, near the ears, and on the palms and soles of the feet. Additionally, thick, dark, velvety areas of skin (acanthosis nigricans) are sometimes found on the hands and feet and in the genital region. Additional signs and symptoms of Beare-Stevenson cutis gyrata syndrome can include a blockage of the nasal passages (choanal atresia), overgrowth of the umbilical stump (tissue that normally falls off shortly after birth, leaving the belly button), and abnormalities of the genitalia and anus. The medical complications associated with this condition are often life-threatening in infancy or early childhood.
Early-onset primary dystonia is a condition characterized by progressive problems with movement, typically beginning in childhood. Dystonia is a movement disorder that involves involuntary tensing of the muscles (muscle contractions), twisting of specific body parts such as an arm or a leg, rhythmic shaking (tremors), and other uncontrolled movements. A primary dystonia is one that occurs without other neurological symptoms, such as seizures or a loss of intellectual function (dementia). Early-onset primary dystonia does not affect a person's intelligence. On average, the signs and symptoms of early-onset primary dystonia appear around age 12. Abnormal muscle spasms in an arm or a leg are usually the first sign. These unusual movements initially occur while a person is doing a specific action, such as writing or walking. In some affected people, dystonia later spreads to other parts of the body and may occur at rest. The abnormal movements persist throughout life, but they do not usually cause pain. The signs and symptoms of early-onset primary dystonia vary from person to person, even among affected members of the same family. The mildest cases affect only a single part of the body, causing isolated problems such as a writer's cramp in the hand. Severe cases involve abnormal movements affecting many regions of the body.
How is Gilbert syndrome inherited? Gilbert syndrome is inherited in an autosomal recessive manner, which means both copies of the gene in each cell have mutations. The parents of a person 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.
Antiphospholipid antibody syndrome (APS) occurs if the body's immune system makes antibodies (proteins) that attack phospholipids. Phospholipids are a type of fat found in all living cells and cell membranes, including blood cells and the lining of blood vessels. What causes the immune system to make antibodies against phospholipids isn't known. APS causes unwanted blood clots to form in the body's arteries and veins. Usually, blood clotting is a normal bodily process. It helps seal small cuts or breaks on blood vessel walls. This prevents you from losing too much blood. In APS, however, too much blood clotting can block blood flow and damage the body's organs. Researchers don't know why APS antibodies cause blood clots to form. Some believe that the antibodies damage or affect the inner lining of the blood vessels, which causes blood clots to form. Others believe that the immune system makes antibodies in response to blood clots damaging the blood vessels.
You can't prevent primary thrombocythemia. However, you can take steps to reduce your risk for complications. For example, you can control many of the risk factors for blood clots, such as high blood cholesterol, high blood pressure, diabetes, and smoking. To reduce your risk, quit smoking, adopt healthy lifestyle habits, and work with your doctor to manage your risk factors. It's not always possible to prevent conditions that lead to secondary thrombocytosis. But, if you have routine medical care, your doctor may detect these conditions before you develop a high platelet count.
What are the signs and symptoms of Hashimoto's syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hashimoto's 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) Autoimmune antibody positivity - Autosomal dominant inheritance - Hashimoto thyroiditis - 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.
Doctors have found four main types of kidney stones: - The most common types of stones contain calcium. Calcium is a normal part of a healthy diet. Calcium that is not used by the bones and muscles goes to the kidneys. In most people, the kidneys flush out the extra calcium with the rest of the urine. People who have calcium stones keep the calcium in their kidneys. The calcium that stays behind joins with other waste products to form a stone. People can have calcium oxalate and calcium phosphate stones. Calcium oxalate stones are more common. - A uric acid stone may form when the urine contains too much acid. People who eat a lot of meat, fish, and shellfish may get uric acid stones. - A struvite stone may form after you have a kidney infection. - Cystine stones result from a genetic disorder, meaning a problem passed from parent to child. The disorder causes cystine to leak through the kidneys and into the urine.
The SBBYS variant of Ohdo syndrome is estimated to occur in fewer than 1 per million people. At least 19 cases have been reported in the medical literature.
The prostate is a male sex gland, about the size of a large walnut. It is located below the bladder and in front of the rectum. The prostate's main function is to make fluid for semen, a white substance that carries sperm. Prostate cancer occurs when a tumor forms in the tissue of the prostate. In its early stage, prostate cancer needs the male hormone testosterone to grow and survive.
The cause of Nager syndrome is unknown. Although the specific genes involved have not been identified, researchers believe that this condition is caused by changes in a particular region of chromosome 9 in some families. Nager syndrome disrupts the development of structures called the first and second pharyngeal arches. The pharyngeal arches are five paired structures that form on each side of the head and neck during embryonic development. These structures develop into the bones, skin, nerves, and muscles of the head and neck. In particular, the first and second pharyngeal arches develop into the jaw, the nerves and muscles for chewing and facial expressions, the bones in the middle ear, and the outer ear. The cause of the abnormal development of the pharyngeal arches in Nager syndrome is unknown. It is also unclear why affected individuals have bone abnormalities in their arms and legs.
Maffucci syndrome is not inherited. The mutations that cause this disorder are somatic, which means they occur during a person's lifetime. A somatic mutation occurs in a single cell. As that cell continues to grow and divide, the cells derived from it also have the same mutation. In Maffucci syndrome, the mutation is thought to occur in a cell during early development before birth; cells that arise from that abnormal cell have the mutation, while the body's other cells do not. This situation is called mosaicism.
How is amelogenesis imperfecta inherited? Amelogenesis imperfecta can have different patterns of inheritance, depending on the gene that is altered. Most cases are caused by mutations in the ENAM gene and are inherited in an autosomal dominant pattern. This type of inheritance means one copy of the altered gene in each cell is sufficient to cause the disorder. Amelogenesis imperfecta may also be inherited in an autosomal recessive pattern; this form of the disorder can result from mutations in the ENAM or MMP20 gene. Autosomal recessive inheritance means two copies of the gene in each cell are altered. About 5 percent of amelogenesis imperfecta cases are caused by mutations in the AMELX gene and are inherited in an X-linked pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. In most cases, males with X-linked amelogenesis imperfecta experience more severe dental abnormalities than females with this form of this condition. Other cases of amelogenesis imperfecta result from new mutations in these genes and occur in people with no history of the disorder in their family.
These resources address the diagnosis or management of Glanzmann thrombasthenia: - CLIMB Glanzmann Thrombasthenia Info Sheet - Canadian Hemophilia Society: Glanzmann Thrombasthenia Information Booklet - Genetic Testing Registry: Glanzmann's thrombasthenia - MedlinePlus Encyclopedia: Glanzmann's Disease These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Major Signs and Symptoms Signs and symptoms of pulmonary embolism (PE) include unexplained shortness of breath, problems breathing, chest pain, coughing, or coughing up blood. An arrhythmia (irregular heartbeat) also may suggest that you have PE. Sometimes the only signs and symptoms are related to deep vein thrombosis (DVT). These include swelling of the leg or along a vein in the leg, pain or tenderness in the leg, a feeling of increased warmth in the area of the leg that's swollen or tender, and red or discolored skin on the affected leg. See your doctor right away if you have any signs or symptoms of PE or DVT. It's also possible to have PE and not have any signs or symptoms. Other Signs and Symptoms Some people who have PE have feelings of anxiety or dread, light-headedness or fainting, rapid breathing, sweating, or an increased heart rate.
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. In most cases of this disorder, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.
What are the signs and symptoms of chromosome 4q deletion? The signs and symptoms of chromosome 4q deletion vary significantly depending on the size and location of the deletion and which genes are involved. Common features that may be shared by affected people include: Distinctive craniofacial features such as a depressed nasal bridge, cleft lip/palate, and micrognathia Skeletal abnormalities including hip dysplasia and malformations of the fingers, toes, or limbs (arms/legs) Heart defects and/or arrhythmias Hypotonia (reduced muscle tone) Seizures Short stature Developmental delay Intellectual disability Metabolic disorders Gastrointestinal problems Kidney abnormalities
These resources address the diagnosis or management of Stargardt macular degeneration: - Genetic Testing Registry: Stargardt Disease 3 - Genetic Testing Registry: Stargardt disease 1 - Genetic Testing Registry: Stargardt disease 4 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care

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