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How might Ollier disease be treated? There is no specific medical treatment for Ollier disease. Surgery is indicated in cases where complications (pathological fractures, growth defect, malignant transformation) arise.
Congenital generalized lipodystrophy has an estimated prevalence of 1 in 10 million people worldwide. Between 300 and 500 people with the condition have been described in the medical literature. Although this condition has been reported in populations around the world, it appears to be more common in certain regions of Lebanon and Brazil.
How is Binswanger's disease diagnosed? A diagnosis of Binswanger's disease is often suspected based on the presence of characteristic signs and symptoms. Additional testing can then be ordered to confirm the diagnosis. This generally consists of imaging studies of the brain (i.e. CT scan and/or MRI scan).
The prevalence of LHON in most populations is unknown. It affects 1 in 30,000 to 50,000 people in northeast England and Finland.
How is fragile X syndrome inherited? Fragile X syndrome (FXS) is inherited in an X-linked dominant manner. A condition is X-linked if the responsible gene is located on the X chromosome. The inheritance is dominant if having only one changed (mutated) copy of the responsible gene is enough to cause symptoms of the condition. In women who carry an FMR1 gene premutation (approximately 55 to 200 CGG repeats), the repeats can expand to more than 200 repeats in their cells that develop into eggs. This means that women with a premutation (or a full mutation) have an increased risk to have a child with FXS. The size of the risk corresponds to the number of CGG repeats they have. By contrast, men with premutations are not at risk for the repeats expanding to over 200 when passing the gene to offspring. However, men with a premutation will pass the premutation on to all of their daughters and none of their sons. This is because boys receive only a Y chromosome from their fathers.
Cri-du-chat syndrome is caused by a deletion of the end of the short (p) arm of chromosome 5. This chromosomal change is written as 5p-. The size of the deletion varies among affected individuals; studies suggest that larger deletions tend to result in more severe intellectual disability and developmental delay than smaller deletions. The signs and symptoms of cri-du-chat syndrome are probably related to the loss of multiple genes on the short arm of chromosome 5. Researchers believe that the loss of a specific gene, CTNND2, is associated with severe intellectual disability in some people with this condition. They are working to determine how the loss of other genes in this region contributes to the characteristic features of cri-du-chat syndrome.
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.
Apert syndrome affects an estimated 1 in 65,000 to 88,000 newborns.
Is your child ready to use a potty? The more important question may be, are you? Children are usually ready around ages 18-24 months. They often signal that they are ready by letting you know when their diapers need changing. You should be prepared to commit to three months of daily encouragement. Successful trips to the potty should be rewarded. Missteps shouldn't get as much attention. Training requires patience. If it is not successful, it may mean your child is not ready.
How might galactosialidosis be treated? There is no cure for galactosialidosis. Treatment is symptomatic and supportive; for example, taking medication to control seizures. Individuals with galactosialidosis are encouraged to routinely see their genetic counselors, neurological, ophthalmological, and other specialists as symptoms arise and to keep symptoms controlled. Bone marrow transplant is under investigation as an experimental therapy. No conclusive results are currently available regarding the long term benefits of this treatment.
Cancer prevention clinical trials are used to study ways to prevent cancer. Cancer prevention clinical trials are used to study ways to lower the risk of developing certain types of cancer. Some cancer prevention trials are conducted with healthy people who have not had cancer but who have an increased risk for cancer. Other prevention trials are conducted with people who have had cancer and are trying to prevent another cancer of the same type or to lower their chance of developing a new type of cancer. Other trials are done with healthy volunteers who are not known to have any risk factors for cancer. The purpose of some cancer prevention clinical trials is to find out whether actions people take can prevent cancer. These may include eating fruits and vegetables, exercising, quitting smoking, or taking certain medicines, vitamins, minerals, or food supplements. New ways to prevent skin cancer are being studied in clinical trials. Clinical trials are taking place in many parts of the country. Information about clinical trials can be found in the Clinical Trials section of the NCI Web site. Check NCI's list of cancer clinical trials for nonmelanoma skin cancer prevention trials and melanoma prevention trials that are now accepting patients.
Mutations in the PORCN gene cause focal dermal hypoplasia. This gene provides instructions for making a protein that is responsible for modifying other proteins, called Wnt proteins. Wnt proteins participate in chemical signaling pathways in the body that regulate development of the skin, bones, and other structures before birth. Mutations in the PORCN gene appear to prevent the production of any functional PORCN protein. Researchers believe Wnt proteins cannot be released from the cell without the PORCN protein. When Wnt proteins are unable to leave the cell, they cannot participate in the chemical signaling pathways that are critical for normal development. The various signs and symptoms of focal dermal hypoplasia are likely due to abnormal Wnt signaling during early development.
The incidence of GSDIII in the United States is 1 in 100,000 individuals. This condition is seen more frequently in people of North African Jewish ancestry; in this population, 1 in 5,400 individuals are estimated to be affected. GSDIIIa is the most common form of GSDIII, accounting for about 85 percent of all cases. GSDIIIb accounts for about 15 percent of cases. GSD types IIIc and IIId are very rare, and their signs and symptoms are poorly defined. Only a small number of affected individuals have been suspected to have GSD types IIIc and IIId.
Mutations in the IKBKAP gene cause familial dysautonomia. The IKBKAP gene provides instructions for making a protein called IKK complex-associated protein (IKAP). This protein is found in a variety of cells throughout the body, including brain cells. Nearly all individuals with familial dysautonomia have two copies of the same IKBKAP gene mutation in each cell. This mutation can disrupt how information in the IKBKAP gene is pieced together to make a blueprint for the production of IKAP protein. As a result of this error, a reduced amount of normal IKAP protein is produced. This mutation behaves inconsistently, however. Some cells produce near normal amounts of the protein, and other cellsparticularly brain cellshave very little of the protein. Critical activities in brain cells are probably disrupted by reduced amounts or the absence of IKAP protein, leading to the signs and symptoms of familial dysautonomia.
Reynolds syndrome is a condition characterized by scleroderma with primary biliary cirrhosis. Scleroderma is mainly limited to CREST syndrome, which includes calcinosis cutis (calcium deposits in the skin), Raynaud's phenomenon, esophageal dysfunction (acid reflux and decrease in motility in the esophagus), sclerodactyly, and telangiectasis. Diffuse scleroderma, or scleroderma that affects blood vessels, internal organs, and the skin, has also been reported. Although generally considered an autoimmune disorder, other causes have been suggested, including genetics. Reynolds syndrome may be caused by mutations in the LBR gene and inherited in an autosomal dominant fashion.
How might hemoglobin E disease be treated? Treatment is usually not necessary. Folic acid supplements may be prescribed to help the body produce normal red blood cells and improve symptoms of anemia. People with hemoglobin E disease can expect to lead a normal life.
What are the signs and symptoms of Myelocytic leukemia-like syndrome, familial, chronic? The Human Phenotype Ontology provides the following list of signs and symptoms for Myelocytic leukemia-like syndrome, familial, chronic. 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) Chronic myelogenous leukemia - 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.
These resources address the diagnosis or management of glycogen storage disease type V: - Gene Review: Gene Review: Glycogen Storage Disease Type V - Genetic Testing Registry: Glycogen storage disease, type V - MedlinePlus Encyclopedia: McArdle 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
These resources address the diagnosis or management of malignant migrating partial seizures of infancy: - Genetic Testing Registry: Early infantile epileptic encephalopathy 14 - MedlinePlus Encyclopedia: EEG 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
Cytomegalovirus (CMV) is a virus found around the world. It is related to the viruses that cause chickenpox and infectious mononucleosis (mono). Between 50 percent and 80 percent of adults in the United States have had a CMV infection by age 40. Once CMV is in a person's body, it stays there for life. CMV is spread through close contact with body fluids. Most people with CMV don't get sick and don't know that they've been infected. But infection with the virus can be serious in babies and people with weak immune systems. If a woman gets CMV when she is pregnant, she can pass it on to her baby. Usually the babies do not have health problems. But some babies can develop lifelong disabilities. A blood test can tell whether a person has ever been infected with CMV. Most people with CMV don't need treatment. If you have a weakened immune system, your doctor may prescribe antiviral medicine. Good hygiene, including proper hand washing, may help prevent infections. Centers for Disease Control and Prevention
The presence of a cyst-like mass in a person with a history of exposure to sheepdogs in an area where E. granulosus is endemic suggests a diagnosis of cystic echinococcosis. Imaging techniques, such as CT scans, ultrasonography, and MRIs, are used to detect cysts. After a cyst has been detected, serologic tests may be used to confirm the diagnosis. Alveolar echinococcosis is typically found in older people. Imaging techniques such as CT scans are used to visually confirm the parasitic vesicles and cyst-like structures and serologic tests can confirm the parasitic infection.
List of Vaccine-Preventable Diseases The following links will lead you to the main page that describes both the disease and the vaccine(s). Vaccines are available for all of the following vaccine-preventable diseases (unless otherwise noted): Anthrax Cervical Cancer (Human Papillomavirus) Diphtheria Hepatitis A Hepatitis B Haemophilus influenzae type b (Hib) Human Papillomavirus (HPV) Influenza (Flu) Japanese encephalitis (JE) Measles Meningococcal Mumps Pertussis Pneumococcal Polio Rabies Rotavirus Rubella Shingles (Herpes Zoster) Smallpox Tetanus Typhoid Tuberculosis (TB) Varicella (Chickenpox) Yellow Fever Related Pages For Parents: What You Need to Know List of Vaccines Used in U.S. Photos of diseases Top of Page Images and logos on this website which are trademarked/copyrighted or used with permission of the trademark/copyright or logo holder are not in the public domain. These images and logos have been licensed for or used with permission in the materials provided on this website. The materials in the form presented on this website may be used without seeking further permission. Any other use of trademarked/copyrighted images or logos requires permission from the trademark/copyright holder...more This graphic notice means that you are leaving an HHS Web site. For more information, please see the Exit Notification and Disclaimer policy.
Transient ischemic attacks, or TIAs, occur when the warning signs of stroke last only a few moments and then disappear. These brief episodes are also sometimes called "mini-strokes." Although brief, they identify an underlying serious condition that isn't going away without medical help. Unfortunately, since they clear up, many people ignore them. Don't ignore them. Heeding them can save your life.
Summary : Hip replacement is surgery for people with severe hip damage. The most common cause of damage is osteoarthritis. Osteoarthritis causes pain, swelling, and reduced motion in your joints. It can interfere with your daily activities. If other treatments such as physical therapy, pain medicines, and exercise haven't helped, hip replacement surgery might be an option for you. During a hip replacement operation, the surgeon removes damaged cartilage and bone from your hip joint and replaces them with new, man-made parts. A hip replacement can - Relieve pain - Help your hip joint work better - Improve walking and other movements The most common problem after surgery is hip dislocation. Because a man-made hip is smaller than the original joint, the ball can come out of its socket. The surgery can also cause blood clots and infections. With a hip replacement, you might need to avoid certain activities, such as jogging and high-impact sports. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases
Summary : You have more calcium in your body than any other mineral. Calcium has many important jobs. The body stores more than 99 percent of its calcium in the bones and teeth to help make and keep them strong. The rest is throughout the body in blood, muscle and the fluid between cells. Your body needs calcium to help muscles and blood vessels contract and expand, to secrete hormones and enzymes and to send messages through the nervous system. It is important to get plenty of calcium in the foods you eat. Foods rich in calcium include - Dairy products such as milk, cheese, and yogurt - Leafy, green vegetables - Fish with soft bones that you eat, such as canned sardines and salmon - Calcium-enriched foods such as breakfast cereals, fruit juices, soy and rice drinks, and tofu. Check the product labels. The exact amount of calcium you need depends on your age and other factors. Growing children and teenagers need more calcium than young adults. Older women need plenty of calcium to prevent osteoporosis. People who do not eat enough high-calcium foods should take a calcium supplement. NIH: National Institutes of Health Office of Dietary Supplements
Most cases of polycythemia vera are not inherited. This condition is associated with genetic changes that are somatic, which means they are acquired during a person's lifetime and are present only in certain cells. In rare instances, polycythemia vera has been found to run in families. In some of these families, the risk of developing polycythemia vera appears to have an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means that one copy of an altered gene in each cell is sufficient to increase the risk of developing polycythemia vera, although the cause of this condition in familial cases is unknown. In these families, people seem to inherit an increased risk of polycythemia vera, not the disease itself.
What are the signs and symptoms of Dystelephalangy? The Human Phenotype Ontology provides the following list of signs and symptoms for Dystelephalangy. 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 - Curved distal phalanx of the 5th finger - 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.
Ichthyosis with confetti is considered to have an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Usually, the condition is caused by a new mutation that occurs very early in embryonic development (called a de novo mutation). In these cases, the affected individuals have no history of the disorder in their family. In some cases, an affected person inherits the mutation from one affected parent.
The NINDS supports and conducts a broad range of basic and clinical research on cerebellar degeneration, including work aimed at finding the cause(s) of OPCA and ways to treat, cure, and, ultimately, prevent the disease. There has been great progress recently since the genes for several of the hereditary forms of OPCA have been found.
Arachnoiditis remains a difficult condition to treat, and long-term outcomes are unpredictable. Most treatments for arachnoiditis are focused on pain relief and the improvement of symptoms that impair daily function. A regimen of pain management, physiotheraphy, exercise, and psychotheraphy is often recommended. Surgical intervention is controversial since the outcomes are generally poor and provide only short-term relief.
Collagen VI-related myopathy is rare. Bethlem myopathy is estimated to occur in 0.77 per 100,000 individuals, and Ullrich congenital muscular dystrophy is estimated to occur in 0.13 per 100,000 individuals. Only a few cases of the intermediate form have been described in the scientific literature.
Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (NCAH) is a milder and later onset form of a genetic condition known as congenital adrenal hyperplasia. Some people affected by the condition have no associated signs and symptoms while others experience symptoms of androgen (male hormone) excess. Women with NCAH are generally born with normal female genitalia. Later in life, signs and symptoms of the condition can vary but may include hirsutism, frontal baldness, delayed menarche (first period), menstrual irregularities, and infertility. Little has been published about males with NCAH. They may have early beard growth and relatively small testes. Typically, they have normal sperm counts. NCAH is caused by changes (mutations) in the CYP21A2 gene and is inherited in an autosomal recessive manner. Treatment is only necessary in people who are symptomatic and may include a glucocorticoid called dexamethasone.
Wilson disease is a rare inherited disorder that prevents your body from getting rid of extra copper. You need a small amount of copper from food to stay healthy. Too much copper is poisonous. Normally, your liver releases extra copper into bile, a digestive fluid. With Wilson disease, the copper builds up in your liver, and it releases the copper directly into your bloodstream. This can cause damage to your brain, kidneys, and eyes. Wilson disease is present at birth, but symptoms usually start between ages 5 and 35. It first attacks the liver, the central nervous system or both. The most characteristic sign is a rusty brown ring around the cornea of the eye. A physical exam and laboratory tests can diagnose it. Treatment is with drugs to remove the extra copper from your body. You need to take medicine and follow a low-copper diet for the rest of your life. Don't eat shellfish or liver, as these foods may contain high levels of copper. At the beginning of treatment, you'll also need to avoid chocolate, mushrooms, and nuts. Have your drinking water checked for copper content and don't take multivitamins that contain copper. With early detection and proper treatment, you can enjoy good health. NIH: National Institute of Diabetes and Digestive and Kidney Diseases
Your back is made of bones, muscles, and other tissues extending from your neck to your pelvis. Back injuries can result from sports injuries, work around the house or in the garden, or a sudden jolt such as a car accident. The lower back is the most common site of back injuries and back pain. Common back injuries include - Sprains and strains - Herniated disks - Fractured vertebrae These injuries can cause pain and limit your movement. Treatments vary but might include medicines, icing, bed rest, physical therapy, or surgery. You might be able to prevent some back injuries by maintaining a healthy weight, lifting objects with your legs, and using lower-back support when you sit.
The NINDS conducts and supports a broad range of research on neurogenetic disorders, including Moebius syndrome. The goals of these studies are to develop improved techniques to diagnose, treat, and eventually cure these disorders.
Ocular albinism type 1 is 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 males (who have only one X chromosome), one altered copy of the GPR143 gene in each cell is sufficient to cause the characteristic features of ocular albinism. Because females have two copies of the X chromosome, women with only one copy of a GPR143 mutation in each cell usually do not experience vision loss or other significant eye abnormalities. They may have mild changes in retinal pigmentation that can be detected during an eye examination.
Alopecia universalis (AU) is a condition characterized by the complete loss of hair on the scalp and body. It is an advanced form of alopecia areata, a condition that causes round patches of hair loss. Although the exact cause of AU is unknown, it is thought to be an autoimmune condition in which an affected person's immune system mistakenly attacks the hair follicles. Roughly 20% of affected people have a family member with alopecia, suggesting that genetic factors may contribute to the development of AU. There is currently no cure for AU, but sometimes hair regrowth occurs on it's own, even after many years.
Andersen-Tawil syndrome is a type of long QT syndrome and is also considered a rare form of periodic paralysis. It causes episodes of muscle weakness, changes in heart rhythm (arrhythmia), and developmental abnormalities. Physical abnormalities associated with this condition typically affect the head, face, and limbs. About 60% of cases of Andersen-Tawil syndrome are caused by mutations in the KCNJ2 gene. The cause of the remaining cases remains unknown. This condition is inherited in an autosomal dominant pattern.
Complement factor I deficiency is a disorder that affects the immune system. People with this condition are prone to recurrent infections, including infections of the upper respiratory tract, ears, skin, and urinary tract. They may also contract more serious infections such as pneumonia, meningitis, and sepsis, which may be life-threatening. Some people with complement factor I deficiency have a kidney disorder called glomerulonephritis with isolated C3 deposits. Complement factor I deficiency can also be associated with autoimmune disorders such as rheumatoid arthritis or systemic lupus erythematosus (SLE). Autoimmune disorders occur when the immune system malfunctions and attacks the body's tissues and organs.
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 some cases, an affected person inherits the mutation from one affected parent. Other cases may result from new mutations in the gene. These cases occur in people with no history of the disorder in their family.
SPF is a sun protection rating. The SPF of a sunscreen is a measure of the time it takes to produce a sunburn in a person wearing sunscreen compared to the time it takes to produce a sunburn in a person not wearing sunscreen. This varies from person to person, so be sure to reapply sunscreen every 2-3 hours.
The esophagus is the tube that carries food, liquids and saliva from your mouth to the stomach. You may not be aware of your esophagus until you swallow something too large, too hot or too cold. You may also become aware of it when something is wrong. The most common problem with the esophagus is gastroesophageal reflux disease (GERD). It happens when a band of muscle at the end of your esophagus does not close properly. This allows stomach contents to leak back, or reflux, into the esophagus and irritate it. Over time, GERD can cause damage to the esophagus. Other problems include heartburn and cancer. Treatment depends on the problem. Some get better with over-the-counter medicines or changes in diet. Others may need prescription medicines or surgery.
Testicles, or testes, make male hormones and sperm. They are two egg-shaped organs inside the scrotum, the loose sac of skin behind the penis. You can get cancer in one or both testicles. Testicular cancer mainly affects young men between the ages of 20 and 39. It is also more common in men who - Have had abnormal testicle development - Have had an undescended testicle - Have a family history of the cancer Symptoms include pain, swelling, or lumps in your testicles or groin area. Doctors use a physical exam, lab tests, imaging tests, and a biopsy to diagnose testicular cancer. Most cases can be treated, especially if found early. Treatment options include surgery, radiation, and/or chemotherapy. Regular exams after treatment are important. Treatments may also cause infertility. If you may want children later on, you should consider sperm banking before treatment. NIH: National Cancer Institute
Smoking, previous chemotherapy treatment, and exposure to radiation may affect the risk of adult AML. 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 doctor if you think you may be at risk. Possible risk factors for AML include the following: - Being male. - Smoking, especially after age 60. - Having had treatment with chemotherapy or radiation therapy in the past. - Having had treatment for childhood acute lymphoblastic leukemia (ALL) in the past. - Being exposed to radiation from an atomic bomb or to the chemical benzene. - Having a history of a blood disorder such as myelodysplastic syndrome.
Suicide is the tenth most common cause of death in the United States. People may consider suicide when they are hopeless and can't see any other solution to their problems. Often it's related to serious depression, alcohol or substance abuse, or a major stressful event. People who have the highest risk of suicide are white men. But women and teens report more suicide attempts. If someone talks about suicide, you should take it seriously. Urge them to get help from their doctor or the emergency room, or call the National Suicide Prevention Lifeline at 1-800-273-TALK (8255). It is available 24/7. Therapy and medicines can help most people who have suicidal thoughts. Treating mental illnesses and substance abuse can reduce the risk of suicide. NIH: National Institute of Mental Health
A variety of genetic and environmental factors likely play a role in causing Tourette syndrome. Most of these factors are unknown, and researchers are studying risk factors before and after birth that may contribute to this complex disorder. Scientists believe that tics may result from changes in brain chemicals (neurotransmitters) that are responsible for producing and controlling voluntary movements. Mutations involving the SLITRK1 gene have been identified in a small number of people with Tourette syndrome. This gene provides instructions for making a protein that is active in the brain. The SLITRK1 protein probably plays a role in the development of nerve cells, including the growth of specialized extensions (axons and dendrites) that allow each nerve cell to communicate with nearby cells. It is unclear how mutations in the SLITRK1 gene can lead to this disorder. Most people with Tourette syndrome do not have a mutation in the SLITRK1 gene. Because mutations have been reported in so few people with this condition, the association of the SLITRK1 gene with this disorder has not been confirmed. Researchers suspect that changes in other genes, which have not been identified, are also associated with Tourette syndrome.
Infective endocarditis (IE) is an uncommon condition that can affect both children and adults. It's more common in men than women. IE typically affects people who have abnormal hearts or other conditions that put them at risk for the infection. Sometimes IE does affect people who were healthy before the infection. Major Risk Factors The germs that cause IE tend to attach and multiply on damaged, malformed, or artificial (man-made) heart valves and implanted medical devices. Certain conditions put you at higher risk for IE. These include: Congenital heart defects (defects that are present at birth). Examples include a malformed heart or abnormal heart valves. Artificial heart valves, an implanted medical device in the heart (such as a pacemaker wire), or an intravenous (IV) catheter (tube) in a blood vessel for a long time. Heart valves damaged by rheumatic fever or calcium deposits that cause age-related valve thickening. Scars in the heart from a previous case of IE also can damage heart valves. IV drug use, especially if needles are shared or reused, contaminated substances are injected, or the skin isn't properly cleaned before injection.
Lattice corneal dystrophy type I is an eye disorder that affects the clear, outer covering of the eye called the cornea. The cornea must remain clear for an individual to see properly; however, in lattice corneal dystrophy type I, protein clumps known as amyloid deposits cloud the cornea, which leads to vision impairment. The cornea is made up of several layers of tissue, and in lattice corneal dystrophy type I, the deposits form in the stromal layer. The amyloid deposits form as delicate, branching fibers that create a lattice pattern. Affected individuals often have recurrent corneal erosions, which are caused by separation of particular layers of the cornea from one another. Corneal erosions are very painful and can cause sensitivity to bright light (photophobia). Lattice corneal dystrophy type I is usually bilateral, which means it affects both eyes. The condition becomes apparent in childhood or adolescence and leads to vision problems by early adulthood.
Snibbeleroodle disease makes patients temporarily attracted to doorknobs, often resulting in awkward hugging of doors. Recovery techniques include gradual exposure therapy with increasingly attractive doorknobs and supportive group therapy with fellow sufferers.
NARP results from mutations in the MT-ATP6 gene. This gene is contained in mitochondrial DNA, also known as mtDNA. Mitochondria are structures within cells that convert the energy from food into a form that cells can use. Although most DNA is packaged in chromosomes within the nucleus, mitochondria also have a small amount of their own DNA. The MT-ATP6 gene provides instructions for making a protein that is essential for normal mitochondrial function. Through a series of chemical reactions, mitochondria use oxygen and simple sugars to create adenosine triphosphate (ATP), the cell's main energy source. The MT-ATP6 protein forms one part (subunit) of an enzyme called ATP synthase, which is responsible for the last step in ATP production. Mutations in the MT-ATP6 gene alter the structure or function of ATP synthase, reducing the ability of mitochondria to make ATP. It remains unclear how this disruption in mitochondrial energy production leads to muscle weakness, vision loss, and the other specific features of NARP.
Epstein-Barr virus infection increases the risk of childhood Hodgkin lymphoma. 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. Risk factors for childhood Hodgkin lymphoma include the following: - Being infected with the Epstein-Barr virus. - Being infected with the human immunodeficiency virus (HIV). - Having certain diseases of the immune system. - Having a personal history of mononucleosis ("mono"). - Having a parent or sibling with a personal history of Hodgkin lymphoma. Being exposed to common infections in early childhood may decrease the risk of Hodgkin lymphoma in children because of the effect it has on the immune system.
Signs and symptoms of thymoma and thymic carcinoma include a cough and chest pain. Thymoma and thymic carcinoma may not cause early signs or symptoms. The cancer may be found during a routine chest x-ray. Signs and symptoms may be caused by thymoma, thymic carcinoma, or other conditions. Check with your doctor if you have any of the following: - A cough that doesn't go away. - Chest pain. - Trouble breathing.
The NINDS funds research looking at many of the diseases and disorders that cause cerebral atrophy. Understanding the biological mechanisms that cause neurons to die in the brain will help researchers find ways to prevent, treat, and even cure the diseases that lead to cerebral atrophy.
Lymphedema-distichiasis syndrome is caused by mutations in the FOXC2 gene. The FOXC2 gene provides instructions for making a protein that plays a critical role in the formation of many organs and tissues before birth. The FOXC2 protein is a transcription factor, which means that it attaches (binds) to specific regions of DNA and helps control the activity of many other genes. Researchers believe that the FOXC2 protein has a role in a variety of developmental processes, such as the formation of veins and the development of the lungs, eyes, kidneys and urinary tract, cardiovascular system, and the transport system for immune cells (lymphatic vessels).
How might fragile X syndrome be treated? There is no specific treatment available for fragile X syndrome. Management of this condition is generally supportive and may include: recognizing the need for special education and avoiding excessive stimulation, which may help with behavioral problems early educational intervention and special education that is tailored to specific learning difficulties; small class size, individual attention and avoidance of sudden change is often needed medications for behavioral issues that affect social interaction routine medical management of strabismus, ear infections, reflux, seizures, mitral valve prolapse, and/or high blood pressure.
These resources address the diagnosis or management of color vision deficiency: - Gene Review: Gene Review: Red-Green Color Vision Defects - Genetic Testing Registry: Colorblindness, partial, deutan series - Genetic Testing Registry: Cone monochromatism - Genetic Testing Registry: Protan defect - Genetic Testing Registry: Red-green color vision defects - Genetic Testing Registry: Tritanopia - MedlinePlus Encyclopedia: Color Vision Test - MedlinePlus Encyclopedia: Colorblind 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
Wild animals usually avoid people. They might attack, however, if they feel threatened, are sick, or are protecting their young or territory. Attacks by pets are more common. Animal bites rarely are life-threatening, but if they become infected, you can develop serious medical problems. To prevent animal bites and complications from bites - Never pet, handle, or feed unknown animals - Leave snakes alone - Watch your children closely around animals - Vaccinate your cats, ferrets, and dogs against rabies - Spay or neuter your dog to make it less aggressive - Get a tetanus booster if you have not had one recently - Wear boots and long pants when you are in areas with venomous snakes If an animal bites you, clean the wound with soap and water as soon as possible. Get medical attention if necessary. Centers for Disease Control and Prevention
These resources address the diagnosis or management of Donohue syndrome: - Genetic Testing Registry: Leprechaunism 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
How is pityriasis lichenoides chronica diagnosed? The clinical appearance of pityriasis lichenoides chronica suggests the diagnosis. However, since it can look like psoriasis, lichen planus, or the common bug bite, a skin biopsy is recommended to confirm the diagnosis. A dermatologist is the type of specialist who is most often involved in the diagnosis and care of patients with this condition.
These resources address the diagnosis or management of MCPH: - Gene Review: Gene Review: Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders - Genetic Testing Registry: Primary autosomal recessive microcephaly 1 - Genetic Testing Registry: Primary autosomal recessive microcephaly 2 - Genetic Testing Registry: Primary autosomal recessive microcephaly 3 - Genetic Testing Registry: Primary autosomal recessive microcephaly 4 - Genetic Testing Registry: Primary autosomal recessive microcephaly 5 - Genetic Testing Registry: Primary autosomal recessive microcephaly 6 - Genetic Testing Registry: Primary autosomal recessive microcephaly 7 - MedlinePlus Encyclopedia: Head Circumference 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
An estimated 1 in 10,000 people have primary sclerosing cholangitis, and the condition is diagnosed in approximately 1 in 100,000 people per year worldwide.
Autosomal recessive congenital stationary night blindness is likely a rare disease; however, its prevalence is unknown.
- Acromegaly is a hormonal disorder that results from too much growth hormone (GH) in the body. - In most people with acromegaly, a benign tumor of the pituitary gland produces excess GH. - Common features of acromegaly include abnormal growth of the hands and feet; bone growth in the face that leads to a protruding lower jaw and brow and an enlarged nasal bone; joint aches; thick, coarse, oily skin; and enlarged lips, nose, and tongue. - Acromegaly can cause sleep apnea, fatigue and weakness, headaches, impaired vision, menstrual abnormalities in women, and erectile dysfunction in men. - Acromegaly is diagnosed through a blood test. Magnetic resonance imaging (MRI) of the pituitary is then used to locate and detect the size of the tumor causing GH overproduction. - The first line of treatment is usually surgical removal of the tumor. Medication or radiation may be used instead of or in addition to surgery.
There are many kinds of families. Some have two parents, while others have a single parent. Sometimes there is no parent and grandparents raise grandchildren. Some children live in foster families, adoptive families, or in stepfamilies. Families are much more than groups of people who share the same genes or the same address. They should be a source of love and support. This does not mean that everyone gets along all the time. Conflicts are a part of family life. Many things can lead to conflict, such as illness, disability, addiction, job loss, school problems, and marital issues. Listening to each other and working to resolve conflicts are important in strengthening the family.
Since the virus remains in the person for life, there is no treatment to eliminate CMV infection. However, minimizing contact with infected body fluids can decrease the risk of viral transmission between individuals or from mother to fetus. Contact can be minimized by using gloves or other protective barriers when handling body fluids or contaminated materials (such as diapers or tissues), avoiding shared dishes, utensils, and other personal items, and consistent and thorough hand-washing. Antiviral drugs (ganciclovir and others)can be used to prevent or control the symptoms of CMV infection in immunocompromised individuals or some infants with congenital infection. CMV immunoglobulin may also be used in some patients. Vaccines are in the development and human clinical trial stages, which shows that vaccines may help prevent initial CMV infection or decrease the severity of symptoms.
Dry eye occurs when the eye does not produce tears properly, or when the tears are of poor quality and dry up quickly. The eyes need tears for overall eye health and clear vision. Dry eye can last a short time or it can be an ongoing condition. It can include a variety of symptoms, such as discomfort and pain. Your eyes may sting and burn and you may have redness and a sandy or gritty feeling, as if something is in your eye. You may have blurry vision and you may feel eye fatigue. Having dry eyes can make it harder to do some activities, such as using a computer or reading for a long period of time, and it can make it hard to be in dry places, such as on an airplane. (This short video discusses causes, symptoms, and treatments for dry eye.)
Prostate cancer is one of the most common types of cancer among American men. It is a slow-growing disease that mostly affects older men. In fact, more than 60 percent of all prostate cancers are found in men over the age of 65. The disease rarely occurs in men younger than 40 years of age.
Duane-radial ray syndrome results from mutations in the SALL4 gene. This gene is part of a group of genes called the SALL family. SALL genes provide instructions for making proteins that are involved in the formation of tissues and organs before birth. The proteins produced from these genes act as transcription factors, which means they attach (bind) to specific regions of DNA and help control the activity of particular genes. The exact function of the SALL4 protein is unclear, although it appears to be important for the normal development of the eyes, heart, and limbs. Mutations in the SALL4 gene prevent cells from making any functional protein from one copy of the gene. It is unclear how a reduction in the amount of the SALL4 protein leads to Duane anomaly, radial ray malformations, and the other features of Duane-radial ray syndrome and similar conditions.
CHARGE syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases result from new mutations in the CHD7 gene and occur in people with no history of the disorder in their family. In rare cases, an affected person inherits the mutation from an affected parent.
What causes bronchiolitis obliterans organizing pneumonia (BOOP)? BOOP may be caused by a variety of factors, including viral infections, inhalation of toxic gases, drugs, connective tissue disorders, radiation therapy, cocaine, inflammatory bowl disease, and HIV infection. In many cases, the underlying cause of BOOP is unknown. These cases are called idiopathic BOOP or cryptogenic organizing pneumonia (COP).
Myhre syndrome is a rare inherited disorder characterized by intellectual disability, short stature, unusual facial features, and various bone (skeletal) abnormalities. Other findings may include hearing impairment, abnormal enlargement of the muscles (muscle hypertrophy), and/or joint stiffness. Myhre syndrome is caused by mutations in the SMAD4 gene. This condition is inherited in an autosomal dominant pattern. Most cases are due to a new mutation.
Syringomyelia (sear-IN-go-my-EEL-ya) is a disorder in which a fluid-filled cyst forms within the spinal cord. This cyst, called a syrinx, expands and elongates over time, destroying the center of the spinal cord. Since the spinal cord connects the brain to nerves in the extremities, this damage results in pain, weakness, and stiffness in the back, shoulders, arms, or legs. Symptoms vary among individuals. Other symptoms may include headaches and a loss of the ability to feel extremes of hot or cold, especially in the hands.Signs of the disorder tend to develop slowly, although sudden onset may occur with coughing or straining. If not treated surgically, syringomyelia often leads to progressive weakness in the arms and legs, loss of hand sensation, and chronic, severe pain. In most cases, the disorder is related to a congenital abnormality of the brain called a Chiari I malformation. This malformation causes the lower part of the cerebellum to protrude from its normal location in the back of the head, through the hole connecting the skull and spine, and into the cervical or neck portion of the spinal canal. Syringomyelia may also occur as a complication of trauma, meningitis, hemorrhage, a tumor, or other condition. Symptoms may appear months or even years after the initial injury, starting with pain, weakness, and sensory impairment originating at the site of trauma. Some cases of syringomyelia are familial, although this is rare.
Is jejunal atresia inherited? Most cases of jejunal atresia occur sporadically in people with no family history of the condition. However, it can rarely affect more than one family member. In these families, jejunal atresia is likely due to a genetic cause and appears to be inherited in an autosomal recessive or multifactorial manner.
To diagnose indigestion, the doctor asks about the person's current symptoms and medical history and performs a physical examination. The doctor may order x rays of the stomach and small intestine. The doctor may perform blood, breath, or stool tests if the type of bacteria that causes peptic ulcer disease is suspected as the cause of indigestion. The doctor may perform an upper endoscopy. After giving a sedative to help the person become drowsy, the doctor passes an endoscopea long, thin tube that has a light and small camera on the endthrough the mouth and gently guides it down the esophagus into the stomach. The doctor can look at the esophagus and stomach with the endoscope to check for any abnormalities. The doctor may perform biopsiesremoving small pieces of tissue for examination with a microscopeto look for possible damage from GERD or an infection. Because indigestion can be a sign of a more serious condition, people should see a doctor right away if they experience - frequent vomiting - blood in vomit - weight loss or loss of appetite - black tarry stools - difficult or painful swallowing - abdominal pain in a nonepigastric area - indigestion accompanied by shortness of breath, sweating, or pain that radiates to the jaw, neck, or arm - symptoms that persist for more than 2 weeks
Cutaneous mastocytosis is a form of mastocytosis that primarily affects the skin. There are three main forms of the condition: maculopapular cutaneous mastocytosis (also called urticaria pigmentosa), solitary cutaneous mastocytoma, and diffuse cutaneous mastocytosis. There is also an exteremely rare form called telangiectasia macularis eruptiva perstans. The signs, symptoms and severity of the condition vary by subtype. Cutaneous mastocytosis is usually caused by changes (mutations) in the KIT gene. Most cases are caused by somatic mutations which are not inherited or passed on to the next generation. However, it can rarely affect more than one family member and be inherited in an autosomal dominant manner. Treatment is usually symptomatic and may include oral antihistamines, topical steroids, and/or photochemotherapy.
Adolescent idiopathic scoliosis is the most common spinal abnormality in children. It affects an estimated 2 to 3 percent of children in the U.S.
Langer mesomelic dysplasia has a pseudoautosomal recessive pattern of inheritance. The SHOX gene is located on both the X and Y chromosomes (sex chromosomes) in an area known as the pseudoautosomal region. Although many genes are unique to either the X or Y chromosome, genes in the pseudoautosomal region are present on both sex chromosomes. As a result, both females (who have two X chromosomes) and males (who have one X and one Y chromosome) normally have two functional copies of the SHOX gene in each cell. The inheritance pattern of Langer mesomelic dysplasia is described as recessive because both copies of the SHOX gene in each cell must be missing or altered to cause the disorder. In females, the condition results when the gene is missing or altered on both copies of the X chromosome; in males, it results when the gene is missing or altered on the X chromosome and the Y chromosome. A related skeletal disorder called Lri-Weill dyschondrosteosis occurs when one copy of the SHOX gene is mutated in each cell. This disorder has signs and symptoms that are similar to, but typically less severe than, those of Langer mesomelic dysplasia.
You can't always prevent acute or chronic bronchitis. However, you can take steps to lower your risk for both conditions. The most important step is to quit smoking or not start smoking. For more information about how to quit smoking, go to the Diseases and Conditions Index Smoking and Your Heart article and the National Heart, Lung, and Blood Institute's "Your Guide to a Healthy Heart." Although these resources focus on heart health, they include general information about how to quit smoking. Also, try to avoid other lung irritants, such as secondhand smoke, dust, fumes, vapors, and air pollution. For example, wear a mask over your mouth and nose when you use paint, paint remover, varnish, or other substances with strong fumes. This will help protect your lungs. Wash your hands often to limit your exposure to germs and bacteria. Your doctor also may advise you to get a yearly flu shot and a pneumonia vaccine.
Your ear has three main parts: outer, middle and inner. You use all of them in hearing. Sound waves come in through your outer ear. They reach your middle ear, where they make your eardrum vibrate. The vibrations are transmitted through three tiny bones, called ossicles, in your middle ear. The vibrations travel to your inner ear, a snail-shaped organ. The inner ear makes the nerve impulses that are sent to the brain. Your brain recognizes them as sounds. The inner ear also controls balance. A variety of conditions may affect your hearing or balance: - Ear infections are the most common illness in infants and young children. - Tinnitus, a roaring in your ears, can be the result of loud noises, medicines or a variety of other causes. - Meniere's disease may be the result of fluid problems in your inner ear; its symptoms include tinnitus and dizziness. - Ear barotrauma is an injury to your ear because of changes in barometric (air) or water pressure. Some ear disorders can result in hearing disorders and deafness.
Safe and effective prescription drugs are available to treat both Trichinella infection and the symptoms that occur as a result of infection. Treatment should begin as soon as possible; a doctor will make the decision to treat based upon symptoms, exposure to raw or undercooked meat, and laboratory test results. More on: Resources For Health Professionals: Treatment
How might phacomatosis pigmentovascularis be diagnosed? Diagnosis of phacomatosis pigmentovascularis is based primarily on physical evaluation and appearence of the skin lesions.
Combined pituitary hormone deficiency is a condition that causes a shortage (deficiency) of several hormones produced by the pituitary gland, which is located at the base of the brain. A lack of these hormones may affect the development of many parts of the body. The first signs of this condition include a failure to grow at the expected rate and short stature that usually becomes apparent in early childhood. People with combined pituitary hormone deficiency may have hypothyroidism, which is underactivity of the butterfly-shaped thyroid gland in the lower neck. Hypothyroidism can cause many symptoms, including weight gain and fatigue. Other features of combined pituitary hormone deficiency include delayed or absent puberty and lack the ability to have biological children (infertility). The condition can also be associated with a deficiency of the hormone cortisol. Cortisol deficiency can impair the body's immune system, causing individuals to be more susceptible to infection. Rarely, people with combined pituitary hormone deficiency have intellectual disability; a short, stiff neck; or underdeveloped optic nerves, which carry visual information from the eyes to the brain.
Hidradenitis suppurativa was once thought to be a rare condition because only the most severe cases were reported. However, recent studies have shown that the condition affects at least 1 in 100 people when milder cases are also considered. For reasons that are unclear, women are about twice as likely as men to develop the condition.
Laing distal myopathy is a condition that affects skeletal muscles, which are muscles that the body uses for movement. This disorder causes progressive muscle weakness that appears in childhood. The first sign of Laing distal myopathy is usually weakness in certain muscles in the feet and ankles. This weakness leads to tightening of the Achilles tendon (the band that connects the heel of the foot to the calf muscles), an inability to lift the first (big) toe, and a high-stepping walk. Months to years later, muscle weakness develops in the hands and wrists. Weakness in these muscles makes it difficult to lift the fingers, particularly the third and fourth fingers. Many affected people also experience hand tremors. In addition to muscle weakness in the hands and feet, Laing distal myopathy causes weakness in several muscles of the neck and face. A decade or more after the onset of symptoms, mild weakness also spreads to muscles in the legs, hips, and shoulders. Laing distal myopathy progresses very gradually, and most affected people remain mobile throughout life. Life expectancy is normal in people with this condition.
How is Milroy disease inherited? Milroy disease is inherited in an autosomal dominant manner. This means that having one changed (mutated) copy of the responsible gene in each cell is enough to cause symptoms of the condition. When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit the mutated copy of the gene. Most people with Milroy disease have an affected parent, but some cases are due to new mutations that occur for the first time in the affected person. About 10-15% of people with a mutation in the responsible gene do not develop features of the condition. This phenomenon is called reduced penetrance.
Most cases of idiopathic pulmonary fibrosis are sporadic; they occur in people with no history of the disorder in their family. Familial pulmonary fibrosis appears to have an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means one copy of an altered gene in each cell is sufficient to cause the disorder. However, some people who inherit the altered gene never develop features of familial pulmonary fibrosis. (This situation is known as reduced penetrance.) It is unclear why some people with a mutated gene develop the disease and other people with the mutated gene do not.
What are the signs and symptoms of Anal sphincter dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Anal sphincter 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) Autosomal dominant inheritance - Chronic constipation - Encopresis - 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.
These resources address the diagnosis or management of Kuskokwim syndrome: - Genetic Testing Registry: Kuskokwim disease - Mount Sinai Hospital: Contractures Information 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 inherited thyroxine-binding globulin deficiency: - American Thyroid Association: Thyroid Function Tests - MedlinePlus Encyclopedia: Serum TBG Level 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
Severe MPS I occurs in approximately 1 in 100,000 newborns. Attenuated MPS I is less common and occurs in about 1 in 500,000 newborns.
Cranioectodermal dysplasia is caused by mutations in one of at least four genes: the WDR35, IFT122, WDR19, or IFT43 gene. The protein produced from each of these genes is one piece (subunit) of a protein complex called IFT complex A (IFT-A). This complex is found in finger-like structures called cilia that stick out from the surface of cells. These structures are important for the development and function of many types of cells and tissues. The IFT-A complex is involved in a process called intraflagellar transport, which moves substances within cilia. This movement is essential for the assembly and maintenance of these structures. The IFT-A complex carries materials from the tip to the base of cilia. Mutations in any of the four mentioned genes reduce the amount or function of one of the IFT-A subunits. Shortage or abnormal function of a single component of the IFT-A complex impairs the function of the entire complex, disrupting the assembly and maintenance of cilia. These mutations lead to a smaller number of cilia and to abnormalities in their shape and structure. Although the mechanism is unclear, a loss of normal cilia impedes proper development of bone, ectodermal tissues, and other tissues and organs, leading to the features of cranioectodermal dysplasia. About 40 percent of people with cranioectodermal dysplasia have mutations in one of the four known genes. The cause of the condition in people without mutations in one of these genes is unknown.
How is cryptogenic organizing pneumonia diagnosed? A diagnosis of cryptogenic organizing pneumonia is often suspected based on the presence of characteristic signs and symptoms once other conditions that cause similar features have been excluded. This includes ruling out other known causes of organizing pneumonia. Additional testing such as a computed tomography (CT) scan or lung biopsy can confirm the diagnosis.
Winchester syndrome is a rare inherited disease characterized by a loss of bone tissue (osteolysis), particularly in the hands and feet. Winchester syndrome used to be considered part of a related condition now called multicentric osteolysis, nodulosis, and arthropathy (MONA). However, because Winchester syndrome and MONA are caused by mutations in different genes, they are now thought to be separate disorders. In most cases of Winchester syndrome, bone loss begins in the hands and feet, causing pain and limiting movement. Bone abnormalities later spread to other parts of the body, with joint problems (arthropathy) occurring in the elbows, shoulders, knees, hips, and spine. Most people with Winchester syndrome develop low bone mineral density (osteopenia) and thinning of the bones (osteoporosis) throughout the skeleton. These abnormalities make bones brittle and more prone to fracture. The bone abnormalities also lead to short stature. Some people with Winchester syndrome have skin abnormalities including patches of dark, thick, and leathery skin. Other features of the condition can include clouding of the clear front covering of the eye (corneal opacity), excess hair growth (hypertrichosis), overgrowth of the gums, heart abnormalities, and distinctive facial features that are described as "coarse."
Temporomandibular ankylosis is a condition that occurs when the temporomandibular joint (the joint that connects the jaw to the side of the head) becomes fused by bony or fibrous tissue. As a result, affected people may experience pain, speech impairment, and difficulty chewing and swallowing. It can interfere with nutrition, oral hygiene and the normal growth of the face and/or jaw. Although the condition can be diagnosed in people of all ages, it generally occurs during the first and second decades of life. Temporomandibular ankylosis is most commonly caused by trauma or infection; it may also be associated with certain conditions such as ankylosing spondylitis, rheumatoid arthritis, or psoriasis. The condition is typically treated surgically.
Buschke-Ollendorff syndrome results from mutations in the LEMD3 gene. This gene provides instructions for making a protein that helps control signaling through two chemical pathways known as the bone morphogenic protein (BMP) and transforming growth factor-beta (TGF-) pathways. These signaling pathways regulate various cellular processes and are involved in the growth of cells, including new bone cells. Mutations in the LEMD3 gene reduce the amount of functional LEMD3 protein that is produced. A shortage of this protein prevents it from controlling BMP and TGF- signaling effectively, leading to increased signaling through both of these pathways. Studies suggest that the enhanced signaling increases the formation of bone tissue, resulting in areas of overly dense bone. It is unclear how it is related to the development of connective tissue nevi in people with Buschke-Ollendorff syndrome.
Weight gain usually happens over time. Most people know when they've gained weight. Some of the signs of overweight or obesity include: Clothes feeling tight and needing a larger size. The scale showing that you've gained weight. Having extra fat around the waist. A higher than normal body mass index and waist circumference. (For more information, go to "How Are Overweight and Obesity Diagnosed?")
These resources address the diagnosis or management of hemophilia: - Gene Review: Gene Review: Hemophilia A - Gene Review: Gene Review: Hemophilia B - Genetic Testing Registry: HEMOPHILIA B(M) - Genetic Testing Registry: Hemophilia - Genetic Testing Registry: Hereditary factor IX deficiency disease - Genetic Testing Registry: Hereditary factor VIII deficiency disease - Genomics Education Programme (UK): Haemophilia A - MedlinePlus Encyclopedia: Factor IX Assay - MedlinePlus Encyclopedia: Factor VIII Assay - MedlinePlus Encyclopedia: Hemophilia A - MedlinePlus Encyclopedia: Hemophilia B - National Heart, Lung, and Blood Institute: How is Hemophilia Diagnosed? - National Heart, Lung, and Blood Institute: How is Hemophilia Treated? - National Hemophilia Foundation: Hemophilia Treatment Centers 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
To prevent constipation, a diet with 20 to 35 grams of fiber each day helps the body form soft, bulky stool that is easier to pass. High-fiber foods include beans, whole grains and bran cereals, fresh fruits, and vegetables such as asparagus, brussels sprouts, cabbage, and carrots. For people prone to constipation, limiting foods that have little or no fiber, such as ice cream, cheese, meat, and processed foods, is also important. A health care provider can give information about how changes in eating, diet, and nutrition could help with constipation.
Deep vein thrombosis, or DVT, is a blood clot that forms in a vein deep in the body. Most deep vein clots occur in the lower leg or thigh. If the vein swells, the condition is called thrombophlebitis. A deep vein thrombosis can break loose and cause a serious problem in the lung, called a pulmonary embolism. Sitting still for a long time can make you more likely to get a DVT. Some medicines and disorders that increase your risk for blood clots can also lead to DVTs. Common symptoms are - Warmth and tenderness over the vein - Pain or swelling in the part of the body affected - Skin redness Treatment includes medicines to ease pain and inflammation, break up clots and keep new clots from forming. Keeping the affected area raised and applying moist heat can also help. If you are taking a long car or plane trip, take a break, walk or stretch your legs and drink plenty of liquids.
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.

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