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Celiac disease is a common disorder. Its prevalence has been estimated at about 1 in 100 people worldwide.
Inclusion body myositis (IBM) is an inflammatory myopathy that is characterized by chronic, progressive muscle inflammation and muscle weakness. Symptoms usually begin after the age of 50, although the condition can occur earlier. The onset of muscle weakness usually occurs over months or years. This condition affects both the proximal (close to the trunk of the body) and distal (further away from the trunk) muscles. There is currently no effective treatment for IBM. The cause is unclear in most cases, but it can sometimes be inherited.
To diagnose foodborne illnesses, health care providers ask about symptoms, foods and beverages recently consumed, and medical history. Health care providers will also perform a physical examination to look for signs of illness. Diagnostic tests for foodborne illnesses may include a stool culture, in which a sample of stool is analyzed in a laboratory to check for signs of infections or diseases. A sample of vomit or a sample of the suspected food, if available, may also be tested. A health care provider may perform additional medical tests to rule out diseases and disorders that cause symptoms similar to the symptoms of foodborne illnesses. If symptoms of foodborne illnesses are mild and last only a short time, diagnostic tests are usually not necessary.
Researchers continue to look at new ways to combine, schedule, and sequence the use of chemotherapy, surgery, and radiation to treat lung cancer. Today, some of the most promising treatment approaches incorporate precision medicine. This approach first looks to see what genes may be mutated that are causing the cancer, and once these genes are identified, specific drugs may be available that target the mutations and treat the cancer directly without the harsh side-effects often found with conventional chemotherapy. Researchers are also constantly trying to come up with new ways to find and diagnose lung cancer in order to catch it and treat it in its earliest stages. The National Lung Screening Trial, or NLST, showed conclusively that spiral CT reduced the risk of dying by 20 percent compared to those who received a chest x-ray among heavy smokers Get more information on current lung cancer research.
The site and type of brachial plexus injury determines the prognosis. For avulsion and rupture injuries, there is no potential for recovery unless surgical reconnection is made in a timely manner. The potential for recovery varies for neuroma and neuropraxia injuries. Most individuals with neuropraxia injuries recover spontaneously with a 90-100% return of function.
Summary : Antibiotics are medicines that fight bacterial infections. Used properly, they can save lives. But there is a growing problem of antibiotic resistance. It happens when bacteria change and become able to resist the effects of an antibiotic. Using antibiotics can lead to resistance. Each time you take antibiotics, sensitive bacteria are killed. But resistant germs may be left to grow and multiply. They can spread to other people. They can also cause infections that certain antibiotics cannot cure. Methicillin-resistant Staphylococcus aureus (MRSA) is one example. It causes infections that are resistant to several common antibiotics. To help prevent antibiotic resistance - Don't use antibiotics for viruses like colds or flu. Antibiotics don't work on viruses. - Don't pressure your doctor to give you an antibiotic. - When you take antibiotics, follow the directions carefully. Finish your medicine even if you feel better. If you stop treatment too soon, some bacteria may survive and re-infect you. - Don't save antibiotics for later or use someone else's prescription. Centers for Disease Control and Prevention
Generalized pustular psoriasis is a severe inflammatory skin condition that can be life-threatening. Affected people develop episodes of red and tender skin with widespread pustules throughout their body. This is generally accompanied by fever, chills, headache, rapid pulse rate, loss of appetite, nausea and muscle weakness. The condition generally resolves within days or weeks; however, relapses are common. Some cases of generalized pustular psoriasis are caused by changes (mutations) in the IL36RN gene and are inherited in an autosomal recessive manner. Possible triggers for sporadic forms of the condition include withdrawal from corticosteroids, exposure to certain medications, and/or infection; however, in many cases, the underlying cause is unknown. Generalized pustular psoriasis can be life threatening, so hospitalization and a specialist's care is usually required. Affected areas are treated with topical (on the skin) compresses with emollients and/or steroid creams. Certain medications may also be recommended to manage non-skin-related symptoms.
X-linked lissencephaly with abnormal genitalia (XLAG) is a condition that affects the development of the brain and genitalia. It occurs most often in males. XLAG is characterized by abnormal brain development that results in the brain having a smooth appearance (lissencephaly) instead of its normal folds and grooves. Individuals without any folds in the brain (agyria) typically have more severe symptoms than people with reduced folds and grooves (pachygyria). Individuals with XLAG may also have a lack of development (agenesis) of the tissue connecting the left and right halves of the brain (corpus callosum). The brain abnormalities can cause severe intellectual disability and developmental delay, abnormal muscle stiffness (spasticity), weak muscle tone (hypotonia), and feeding difficulties. Starting soon after birth, babies with XLAG have frequent and recurrent seizures (epilepsy). Most children with XLAG do not survive past early childhood. Another key feature of XLAG in males is abnormal genitalia that can include an unusually small penis (micropenis), undescended testes (cryptorchidism), or external genitalia that do not look clearly male or clearly female (ambiguous genitalia). Additional signs and symptoms of XLAG include chronic diarrhea, periods of increased blood sugar (transient hyperglycemia), and problems with body temperature regulation.
These resources address the diagnosis or management of LAM: - Canadian Lung Association - Genetic Testing Registry: Lymphangiomyomatosis - Merck Manual for Healthcare Professionals - National Heart, Lung, and Blood Institute: How is LAM Diagnosed? - National Heart, Lung, and Blood Institute: How is LAM Treated? These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Abdominal adhesions that do not cause symptoms generally do not require treatment. Surgery is the only way to treat abdominal adhesions that cause pain, intestinal obstruction, or fertility problems. More surgery, however, carries the risk of additional abdominal adhesions. People should speak with their health care provider about the best way to treat their abdominal adhesions. Complete intestinal obstructions usually require immediate surgery to clear the blockage. Most partial intestinal obstructions can be managed without surgery.
Primary carnitine deficiency is a genetic condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). The nature and severity of signs and symptoms may vary, but they most often appear during infancy or early childhood and can include severe brain dysfunction (encephalopathy), cardiomyopathy, confusion, vomiting, muscle weakness, and hypoglycemia. Some individuals may only have fatigability in adulthood, or no symptoms at all. This condition is caused by mutations in the SLC22A5 gene and is inherited in an autosomal recessive manner. Treatment and prevention of symptoms typically includes oral L-carnitine supplementation.
Mutations in the CTSA gene cause all forms of galactosialidosis. The CTSA gene provides instructions for making a protein called cathepsin A, which is active in cellular compartments called lysosomes. These compartments contain enzymes that digest and recycle materials when they are no longer needed. Cathepsin A works together with two enzymes, neuraminidase 1 and beta-galactosidase, to form a protein complex. This complex breaks down sugar molecules (oligosaccharides) attached to certain proteins (glycoproteins) or fats (glycolipids). Cathepsin A is also found on the cell surface, where it forms a complex with neuraminidase 1 and a protein called elastin binding protein. Elastin binding protein plays a role in the formation of elastic fibers, a component of the connective tissues that form the body's supportive framework. CTSA mutations interfere with the normal function of cathepsin A. Most mutations disrupt the protein structure of cathepsin A, impairing its ability to form complexes with neuraminidase 1, beta-galactosidase, and elastin binding protein. As a result, these other enzymes are not functional, or they break down prematurely. Galactosialidosis belongs to a large family of lysosomal storage disorders, each caused by the deficiency of a specific lysosomal enzyme or protein. In galactosialidosis, impaired functioning of cathepsin A and other enzymes causes certain substances to accumulate in the lysosomes.
Complex regional pain syndrome (CRPS) is a chronic pain condition that mainly affects the arms, legs, hands, and feet, but may involve the entire body. CRPS symptoms often begin after an injury. The main feature of CRPS is continuous, intense pain that is out of proportion to the severity of the injury. The pain gets worse over time and often spreads throughout the entire affected area. Other symptoms may include color and temperature changes of the skin over the affected area; skin sensitivity; sweating; and swelling. The underlying cause of CRPS is often not known. Two classifications of CRPS have been recognized based on causalgia. Type I (also known as reflex sympathetic dystrophy), in which there is no evidence of peripheral nerve injury and Type II, in which peripheral nerve injury is present. Treatment aims to relieve pain and often includes different interventions such as topical or oral medications; physical therapy; and/or a sympathetic nerve block.
The cornea and lens of your eye helps you focus. Refractive errors are vision problems that happen when the shape of the eye keeps you from focusing well. The cause could be the length of the eyeball (longer or shorter), changes in the shape of the cornea, or aging of the lens. Four common refractive errors are - Myopia, or nearsightedness - clear vision close up but blurry in the distance - Hyperopia, or farsightedness - clear vision in the distance but blurry close up - Presbyopia - inability to focus close up as a result of aging - Astigmatism - focus problems caused by the cornea The most common symptom is blurred vision. Other symptoms may include double vision, haziness, glare or halos around bright lights, squinting, headaches, or eye strain. Glasses or contact lenses can usually correct refractive errors. Laser eye surgery may also be a possibility. NIH: National Eye Institute
This condition is inherited in an X-linked recessive pattern. The MED12 gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. Females with only one altered copy of the gene in each cell are called carriers. They do not usually experience health problems related to the condition, but they can pass the mutation to their children. Sons who inherit the altered gene will have the condition, while daughters who inherit the altered gene will be carriers. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.
This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.
Is Tourette syndrome inherited? Evidence from twin and family studies suggests that Tourette syndrome is an inherited disorder. Although early family studies suggested an autosomal dominant mode of inheritance (an autosomal dominant disorder is one in which only one copy of the defective gene, inherited from one parent, is necessary to produce the disorder), more recent studies suggest that the pattern of inheritance is much more complex. Although there may be a few genes with substantial effects, it is also possible that many genes with smaller effects and environmental factors may play a role in the development of Tourette syndrome. Genetic studies also suggest that some forms of ADHD and OCD are genetically related to Tourette syndrome, but there is less evidence for a genetic relationship between Tourette syndrome and other neurobehavioral problems that commonly co-occur with Tourette syndrome. Due to the complex nature of Tourette syndrome inheritance, affected families and those at risk may benefit from consulting with a genetics professional. Information about how to locate a genetics professional is provided in the Living With section.
How might dentinogenesis imperfecta be treated? The aims of treatment are to remove sources of infection or pain, restore aesthetics and protect posterior teeth from wear. Treatment varies according to the age of the patient, severity of the problem and the presenting complaint. Crowns, caps or other forms of dental care are the most commonly used treatments. Dentures or dental implants may be necessary if the majority of teeth are lost. More detailed information regarding the treatment of dentinogenesis imperfecta can be found by visiting the following web links: https://www.dentistry.unc.edu/dentalprofessionals/resources/defects/di/ http://www.ojrd.com/content/3/1/31
Duane syndrome is a disorder of eye movement. This condition prevents outward movement of the eye (toward the ear), and in some cases may also limit inward eye movement (toward the nose). As the eye moves inward, the eyelids partially close and the eyeball pulls back (retracts) into its socket. Usually only one eye is affected. Some people with Duane syndrome develop amblyopia ("lazy eye"), a condition that causes vision loss in the affected eye. Most cases occur without other signs and symptoms. There are three forms of Duane syndrome, designated types 1, 2, and 3. The types vary in which eye movements are most severely restricted (inward, outward, or both). All three types are characterized by retraction of the eyeball as the eye moves inward and are inherited in an autosomal dominant fashion.
What are the signs and symptoms of Achromatopsia 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Achromatopsia 3. 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) Achromatopsia - Autosomal recessive inheritance - Cataract - Dyschromatopsia - Horizontal pendular nystagmus - Monochromacy - Photophobia - Severe Myopia - Severe visual impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Nonsyndromic holoprosencephaly accounts for approximately 25 to 50 percent of all cases of holoprosencephaly, which affects an estimated 1 in 10,000 newborns.
How might urachal cancer be treated? Surgical resection in the form of partial (segmental) or radical cystoprostatectomy is the main form of treatment. However, similar results are seen with a conservative surgery that involves partial cystectomy with umbilicotomy and removal of the urachus. The role of chemotherapy and radiation therapy for the treatment of urachal cancer is unclear, although some studies show that chemotherapy can induce objective response in some cases. Chemotherapy regimens that may be used include: single-agent 5-fluorouracil (5-FU), 5-FU and cisplatin, 5-FU, lomustine and vincristine, taxol and cisplatin, platinum and etoposide, and MVAC (methotrexate, vinblastine, doxorubicin, cisplatin) alone or in conjunction with radiation therapy.
Peoples eating habits and diet affect the amount of gas they have. For example, eating and drinking too fast may increase the amount of air swallowed, and foods that contain carbohydrates may cause some people to have more gas. Tracking eating habits and symptoms can help identify the foods that cause more gas. Avoiding or eating less of these foods may help reduce gas symptoms.
Health disparities refer to differences in the health status of different groups of people. Some groups of people have higher rates of certain diseases, and more deaths and suffering from them, compared to others. These groups may be based on - Race - Ethnicity - Immigrant status - Disability - Sex or gender - Sexual orientation - Geography - Income NIH: National Institute on Minority Health and Health Disparities
The coronary arteries bring blood to your heart. If plaque builds up in these arteries, the blood may not be able to bring enough oxygen to the heart muscle. This is called coronary heart disease.
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.
Usher syndrome is thought to be responsible for 3 percent to 6 percent of all childhood deafness and about 50 percent of deaf-blindness in adults. Usher syndrome type I is estimated to occur in at least 4 per 100,000 people. It may be more common in certain ethnic populations, such as people with Ashkenazi (central and eastern European) Jewish ancestry and the Acadian population in Louisiana. Type II is thought to be the most common form of Usher syndrome, although the frequency of this type is unknown. Type III Usher syndrome accounts for only a small percentage of all Usher syndrome cases in most populations. This form of the condition is more common in the Finnish population, however, where it accounts for about 40 percent of all cases.
How is Cornelia de Lange syndrome diagnosed? A diagnosis of Cornelia de Lange syndrome (CdLS) is generally based on the presence of characteristic signs and symptoms during a thorough medical evaluation. In some cases, genetic testing can be ordered to confirm the diagnosis; however, it may not be informative in all people affected by CdLS as the underlying genetic cause is unknown in approximately 30% of cases. GeneReviews' Web site offers more specific information about the treatment and management of CdLS. Please click on the link to access this resource.
These resources address the diagnosis or management of spastic paraplegia type 7: - Gene Review: Gene Review: Hereditary Spastic Paraplegia Overview - Gene Review: Gene Review: Spastic Paraplegia 7 - Genetic Testing Registry: Spastic paraplegia 7 - Spastic Paraplegia Foundation, Inc.: Treatments and Therapies 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
Most cases of 6q24-related transient neonatal diabetes mellitus are not inherited, particularly those caused by paternal uniparental disomy. In these cases, genetic changes occur as random events during the formation of reproductive cells (eggs and sperm) or in early embryonic development. Affected people typically have no history of the disorder in their family. Sometimes, the genetic change responsible for 6q24-related transient neonatal diabetes mellitus is inherited. For example, a duplication of genetic material on the paternal chromosome 6 can be passed from one generation to the next. When 6q24-related transient neonatal diabetes mellitus is caused by ZFP57 gene mutations, it is inherited in an autosomal recessive pattern. Autosomal recessive inheritance 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.
Summary : Sports can be a great way to get in shape or stay that way. Having a specific goal can be a great motivator. Physically, you need strength and endurance. Your training will vary with your sport. You would not train the same way for pole vaulting as for swimming. You might, however, cross train. Cross training simply means that you include a variety of fitness activities in your program. Research shows that cross training builds stronger bones. Remember to listen to your body. If you frequently feel exhausted or you are in pain, you may be overdoing it. Injuries can be the result. And be sure that you use your body and your equipment safely. What you eat and drink is also important. Water is the most important nutrient for active people. Drink it before, during and after workouts.
To prevent heart valve disease caused by rheumatic fever, see your doctor if you have signs of a strep infection. These signs include a painful sore throat, fever, and white spots on your tonsils. If you do have a strep infection, be sure to take all medicines prescribed to treat it. Prompt treatment of strep infections can prevent rheumatic fever, which damages the heartvalves. Its possible that exercise, a heart-healthy diet, and medicines that lower cholesterol might prevent aortic stenosis (thickening and stiffening of the aortic valve). Researchers continue to study this possibility. Heart-healthy eating, physical activity, other heart-healthy lifestyle changes, and medicines aimed at preventing a heart attack, high blood pressure, or heart failure also may help prevent heart valve disease.
Is neurofibromatosis inherited? Neurofibromatosis is inherited in an autosomal dominant manner. This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene. These cases occur in people with no history of the disorder in their family. A person with neurofibromatosis has a 50% chance with each pregnancy of passing along the altered gene to his or her child.
Learning disorders affect how a person understands, remembers and responds to new information. People with learning disorders may have problems - Listening or paying attention - Speaking - Reading or writing - Doing math Although learning disorders occur in very young children, they are usually not recognized until the child reaches school age. About one-third of children who have learning disabilities also have ADHD, which makes it hard to focus. Evaluation and testing by a trained professional can help identify a learning disorder. The next step is special education, which involves helping your child in the areas where he or she needs the most help. Sometimes tutors or speech or language therapists also work with the children. Learning disorders do not go away, but strategies to work around them can make them less of a problem. NIH: National Institute of Neurological Disorders and Stroke
Certain factors affect the prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - The stage of the cancer (whether the cancer has spread from the gallbladder to other places in the body). - Whether the cancer can be completely removed by surgery. - The type of gallbladder cancer (how the cancer cell looks under a microscope). - Whether the cancer has just been diagnosed or has recurred (come back). Treatment may also depend on the age and general health of the patient and whether the cancer is causing signs or symptoms. Gallbladder cancer can be cured only if it is found before it has spread, when it can be removed by surgery. If the cancer has spread, palliative treatment can improve the patient's quality of life by controlling the symptoms and complications of this disease. Taking part in one of the clinical trials being done to improve treatment should be considered. Information about ongoing clinical trials is available from the NCI website.
Obesity, other treatable diseases, and some medications can cause raised intracranial pressure and symptoms of pseudotumor cerebri. A thorough medical history and physical examination is needed to evaluate these factors. If a diagnosis of pseudotumor cerebri is confirmed, close, repeated ophthalmologic exams are required to monitor any changes in vision. Drugs may be used to reduce fluid buildup and to relieve pressure. Weight loss through dieting or weight loss surgery and cessation of certain drugs (including oral contraceptives, tetracycline, and a variety of steroids) may lead to improvement. Surgery may be needed to remove pressure on the optic nerve. Therapeutic shunting, which involves surgically inserting a tube to drain CSF from the lower spine into the abdominal cavity, may be needed to remove excess CSF and relieve CSF pressure.
Mutations in the GATM gene cause arginine:glycine amidinotransferase deficiency. The GATM gene provides instructions for making the enzyme arginine:glycine amidinotransferase. This enzyme participates in the two-step production (synthesis) of the compound creatine from the protein building blocks (amino acids) glycine, arginine, and methionine. Specifically, arginine:glycine amidinotransferase controls the first step of the process. In this step, a compound called guanidinoacetic acid is produced by transferring a cluster of nitrogen and hydrogen atoms called a guanidino group from arginine to glycine. Guanidinoacetic acid is converted to creatine in the second step of the process. Creatine is needed for the body to store and use energy properly. GATM gene mutations impair the ability of the arginine:glycine amidinotransferase enzyme to participate in creatine synthesis, resulting in a shortage of creatine. The effects of arginine:glycine amidinotransferase deficiency are most severe in organs and tissues that require large amounts of energy, especially the brain.
VODI results from mutations in the SP110 gene. This gene provides instructions for making a protein called SP110 nuclear body protein, which is involved in the normal function of the immune system. This protein likely helps regulate the activity of genes needed for the body's immune response to foreign invaders (such as viruses and bacteria). Mutations in the SP110 gene prevent cells from making functional SP110 nuclear body protein, which impairs the immune system's ability to fight off infections. It is unclear how a lack of this protein affects blood flow in the liver.
Mannose-binding lectin deficiency is a condition that affects the immune system. People with this condition have low levels of an immune system protein called mannose-binding lectin in their blood. These individuals are prone to recurrent infections, including infections of the upper respiratory tract and other body systems. People with this condition may also contract more serious infections such as pneumonia and meningitis. Depending on the type of infection, the symptoms caused by the infections vary in frequency and severity. Infants and young children with mannose-binding lectin deficiency seem to be more susceptible to infections, but adults can also develop recurrent infections. In addition, affected individuals undergoing chemotherapy or taking drugs that suppress the immune system are especially prone to infections.
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.
At the beginning of the illness, children with hemolytic uremic syndrome may need IV nutrition or supplements to help maintain fluid balance in the body. Some children may need to follow a low-salt diet to help prevent swelling and high blood pressure. Health care providers will encourage children with hemolytic uremic syndrome to eat when they are hungry. Most children who completely recover and do not have permanent kidney damage can return to their usual diet.
The pericardium is a membrane, or sac, that surrounds your heart. It holds the heart in place and helps it work properly. Problems with the pericardium include - Pericarditis - an inflammation of the sac. It can be from a virus or other infection, a heart attack, heart surgery, other medical conditions, injuries, and certain medicines. - Pericardial effusion - the buildup of fluid in the sac - Cardiac tamponade - a serious problem in which buildup of fluid in the sac causes problems with the function of the heart Symptoms of pericardial problems include chest pain, rapid heartbeat, and difficulty breathing. Fever is a common symptom of acute pericarditis. Your doctor may use a physical exam, imaging tests, and heart tests to make a diagnosis. Treatment depends on the cause. NIH: National Heart, Lung, and Blood Institute
The prevalence of CAID is unknown. At least 17 affected individuals have been described in the medical literature.
Each spring, summer, and fall, trees, weeds, and grasses release tiny pollen grains into the air. Some of the pollen ends up in your nose and throat. This can trigger a type of allergy called hay fever. Symptoms can include - Sneezing, often with a runny or clogged nose - Coughing and postnasal drip - Itching eyes, nose and throat - Red and watery eyes - Dark circles under the eyes Your health care provider may diagnose hay fever based on a physical exam and your symptoms. Sometimes skin or blood tests are used. Taking medicines and using nasal sprays can relieve symptoms. You can also rinse out your nose, but be sure to use distilled or sterilized water with saline. Allergy shots can help make you less sensitive to pollen and provide long-term relief. NIH: National Institute of Allergy and Infectious Diseases
Summary : No matter how well you have prepared, you might feel dazed or numb after going through a disaster. You may also feel sad, helpless, or anxious. In spite of the tragedy, you might just feel happy to be alive. It is not unusual to have bad memories or dreams. You may avoid places or people that remind you of the disaster. You might have trouble sleeping, eating, or paying attention. Many people have short tempers and get angry easily. These are all normal reactions to stress. Sometimes the stress can be too much to handle alone. Some people have long-term problems after a disaster, including - Post-traumatic stress disorder - Depression - Self-blame - Suicidal thoughts - Alcohol or drug abuse If your emotional reactions are getting in the way of your relationships, work, or other important activities, talk to a counselor or your doctor. Treatments are available. Centers for Disease Control and Prevention
Scientists are rapidly learning how harmful insults, a critical nutritional deficiency, or exposure to an environmental insult at various stages of pregnancy can lead to developmental disorders. Research projects currently underway include a study to evaluate increased risk of neural tube defects and various other congenital malformations in association with environmental and occupational exposure to pesticides. Scientists are also concentrating their efforts on understanding the complex processes responsible for normal early development of the brain and nervous system and how the disruption of any of these processes results in congenital anomalies such as cephalic disorders. Currently, researchers are examining the mechanisms involved in neurulation -- the process of forming the neural tube. Investigators are also conducting a variety of genetic studies. Understanding how genes control brain cell migration, proliferation, differentiation, and death, and how radiation, drugs, toxins, infections, and other factors disrupt these processes will aid in preventing many congenital neurological disorders. Recent studies have shown that the addition of folic acid to the diet of women of child-bearing age may significantly reduce the incidence of neural tube defects. Therefore, it is recommended that all women of child-bearing age consume 0.4 mg of folic acid daily.
Tests that examine the penis are used to detect (find) and diagnose penile cancer. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking the penis for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken. - Biopsy : The removal of cells or tissues so they can be viewed under a microscope by a pathologist to check for signs of cancer. The tissue sample is removed during one of the following procedures: - Fine-needle aspiration (FNA) biopsy : The removal of tissue or fluid using a thin needle. - Incisional biopsy : The removal of part of a lump or a sample of tissue that doesn't look normal. - Excisional biopsy : The removal of an entire lump or area of tissue that doesnt look normal.
How might MECP2 duplication syndrome be treated? Because MECP2 duplication syndrome affects many different systems of the body, medical management is often provided by a team of doctors and other healthcare professionals. Treatment for this condition varies based on the signs and symptoms present in each person. For example, infants with trouble swallowing and/or other feeding difficulties may require a feeding tube. Early developmental interventions may be recommended to help affected children reach their potential. This may include physical therapy, speech therapy and/or occupational therapy. Medications may be prescribed to treat seizures or spasticity. Recurrent infections are usually treated aggressively with appropriate antibiotics. Please speak with a healthcare provider if you have any questions about your personal medical management plan or that of a family member.
Medullary sponge kidney, also known as Cacchi-Ricci disease, is a birth defect where changes occur in the tubules, or tiny tubes, inside a fetus kidneys. In a normal kidney, urine flows through these tubules as the kidney is being formed during a fetus growth. In medullary sponge kidney, tiny, fluid-filled sacs called cysts form in the tubules within the medullathe inner part of the kidneycreating a spongelike appearance. The cysts keep urine from flowing freely through the tubules. Symptoms of medullary sponge kidney do not usually appear until the teenage years or the 20s. Medullary sponge kidney can affect one or both kidneys.
Some abnormalities in the urinary tract correct themselves as the child grows, but some may require surgical correction. While milder forms of VUR may resolve on their own, one common procedure to correct VUR is the reimplantation of the ureters. During this procedure, the surgeon repositions the connection between the ureters and the bladder so that urine will not reflux into the ureters and kidneys. This procedure may be performed through an incision that gives the surgeon a direct view of the bladder and ureters or laparoscopically. Laparoscopy is a procedure that uses a scope inserted through a small incision. In recent years, health care providers have treated some cases of VUR by injecting substances into the bladder wall, just below the opening where the ureter joins the bladder. This injection creates a kind of narrowing or valve that keeps urine from refluxing into the ureters. The injection is delivered to the inside of the bladder through a catheter passed through the urethra, so there is no surgical incision. Evidence of clinically significant obstruction may indicate the need for surgery.
Autoimmune diseases are disorders in which the body's immune system attacks the body's own cells and organs with proteins called autoantibodies; this process is called autoimmunity. The body's immune system normally makes large numbers of proteins called antibodies to help the body fight off infections. In some cases, however, the body makes autoantibodies. Certain environmental triggers can lead to autoimmunity. Environmental triggers are things originating outside the body, such as bacteria, viruses, toxins, and medications.
Leukemia is cancer of the white blood cells. White blood cells help your body fight infection. Your blood cells form in your bone marrow. In leukemia, the bone marrow produces abnormal white blood cells. These cells crowd out the healthy blood cells, making it hard for blood to do its work. In chronic myeloid leukemia (CML), there are too many granulocytes, a type of white blood cell. Most people with CML have a gene mutation (change) called the Philadelphia chromosome. Sometimes CML does not cause any symptoms. If you have symptoms, they may include: - Fatigue - Weight loss - Night sweats - Fever - Pain or a feeling of fullness below the ribs on the left side Tests that examine the blood and bone marrow diagnose CML. Treatments include chemotherapy, stem cell transplants, infusion of donated white blood cells following stem cell transplants, surgery to remove the spleen, and biologic and targeted therapies. Biologic therapy boosts your body's own ability to fight cancer. Targeted therapy uses substances that attack cancer cells without harming normal cells. NIH: National Cancer Institute
Mutations in the KRT4 or KRT13 gene cause white sponge nevus. These genes provide instructions for making proteins called keratins. Keratins are a group of tough, fibrous proteins that form the structural framework of epithelial cells, which are cells that line the surfaces and cavities of the body and make up the different mucosae. The keratin 4 protein (produced from the KRT4 gene) and the keratin 13 protein (produced from the KRT13 gene) partner together to form molecules known as intermediate filaments. These filaments assemble into networks that provide strength and resilience to the different mucosae. Networks of intermediate filaments protect the mucosae from being damaged by friction or other everyday physical stresses. Mutations in the KRT4 or KRT13 gene disrupt the structure of the keratin protein. As a result, keratin 4 and keratin 13 are mismatched and do not fit together properly, leading to the formation of irregular intermediate filaments that are easily damaged with little friction or trauma. Fragile intermediate filaments in the oral mucosa might be damaged when eating or brushing one's teeth. Damage to intermediate filaments leads to inflammation and promotes the abnormal growth and division (proliferation) of epithelial cells, causing the mucosae to thicken and resulting in white sponge nevus.
Although Blau syndrome appears to be uncommon, its prevalence is unknown.
Cor triatriatum is an extremely rare congenital (present at birth) heart defect. The human heart normally has four chambers, two ventricles and two atria. The two atria are normally separated from each other by a partition called the atrial septum and the two ventricles by the ventricle septum. In cor triatriatum there is a small extra chamber above the left atrium (cor triatriatum sinistrum) or right atrium (cor triatriatum dextrum). The presence of this extra atrial chamber can cause slowed passage of the blood from the lungs to the heart and, over time, lead to features of congestive heart failure and obstruction. In children, cor triatriatum may be associated with major congenital cardiac problems. In adults, it is often an isolated finding. Treatment depends upon the symptoms present and may include medical or surgical approaches.
Salih myopathy is caused by mutations in the TTN gene. This gene provides instructions for making a protein called titin, which plays an important role in skeletal and cardiac muscle function. Within muscle cells, titin is an essential component of structures called sarcomeres. Sarcomeres are the basic units of muscle contraction; they are made of proteins that generate the mechanical force needed for muscles to contract. Titin has several functions within sarcomeres. One of this protein's most important jobs is to provide structure, flexibility, and stability to these cell structures. Titin also plays a role in chemical signaling and in assembling new sarcomeres. The TTN gene mutations responsible for Salih myopathy lead to the production of an abnormally short version of titin. The defective protein disrupts the function of sarcomeres, which prevents skeletal and cardiac muscle from contracting normally. These muscle abnormalities underlie the features of Salih myopathy, including skeletal muscle weakness and dilated cardiomyopathy.
Ocular albinism type 1 results from mutations in the GPR143 gene. This gene provides instructions for making a protein that plays a role in pigmentation of the eyes and skin. It helps control the growth of melanosomes, which are cellular structures that produce and store a pigment called melanin. Melanin is the substance that gives skin, hair, and eyes their color. In the retina, this pigment also plays a role in normal vision. Most mutations in the GPR143 gene alter the size or shape of the GPR143 protein. Many of these genetic changes prevent the protein from reaching melanosomes to control their growth. In other cases, the protein reaches melanosomes normally but mutations disrupt the protein's function. As a result of these changes, melanosomes in skin cells and the retina can grow abnormally large. Researchers are uncertain how these giant melanosomes are related to vision loss and other eye abnormalities in people with ocular albinism. Rare cases of ocular albinism are not caused by mutations in the GPR143 gene. In these cases, the genetic cause of the condition is often unknown.
Syncope is a dramatic event and can be life-threatening if not treated properly. Generally, however, people recover completely within minutes to hours. If syncope is symptomatic of an underlying condition, then the prognosis will reflect the course of the disorder.
Presently, no prevention has been found that can stop deterioration or reverse the deficits caused by the syndrome A number of controlled studies have demonstrated that nonfatiguing exercises may improve muscle strength and reduce tiredness. Doctors recommend that polio survivors follow standard healthy lifestyle practices: consuming a well-balanced diet, exercising judiciously (preferably under the supervision of an experienced health professional), and visiting a doctor regularly. There has been much debate about whether to encourage or discourage exercise for polio survivors or individuals who already have PPS. A commonsense approach, in which people use individual tolerance as their limit, is currently recommended. Preliminary studies indicate that intravenous immunoglobulin therapy may reduce pain, increase quality of life, and improve strength modestly.
Autosomal dominant vitreoretinochoroidopathy (ADVIRC) is a disorder that affects several parts of the eyes, including the clear gel that fills the eye (the vitreous), the light-sensitive tissue that lines the back of the eye (the retina), and the network of blood vessels within the retina (the choroid). The eye abnormalities in ADVIRC can lead to varying degrees of vision impairment, from mild reduction to complete loss, although some people with the condition have normal vision. The signs and symptoms of ADVIRC vary, even among members of the same family. Many affected individuals have microcornea, in which the clear front covering of the eye (cornea) is small and abnormally curved. The area behind the cornea can also be abnormally small, which is described as a shallow anterior chamber. Individuals with ADVIRC can develop increased pressure in the eyes (glaucoma) or clouding of the lens of the eye (cataract). In addition, some people have breakdown (degeneration) of the vitreous or the choroid. A characteristic feature of ADVIRC, visible with a special eye exam, is a circular band of excess coloring (hyperpigmentation) in the retina. This feature can help physicians diagnose the disorder. Affected individuals may also have white spots on the retina.
Sjgren syndrome is thought to result from a combination of genetic and environmental factors; however, no associations between specific genetic changes and the development of Sjgren syndrome have been confirmed. Researchers believe that variations in many genes affect the risk of developing Sjgren syndrome, but that development of the condition may be triggered by something in the environment. In particular, viral or bacterial infections, which activate the immune system, may have the potential to encourage the development of Sjgren syndrome in susceptible individuals. The genetic variations that increase susceptibility may reduce the body's ability to turn off the immune response when it is no longer needed.
This condition is very rare; only a few affected individuals have been reported worldwide.
The large intestine is part of the GI tract, a series of hollow organs joined in a long, twisting tube from the mouth to the anusan opening through which stool leaves the body. The last part of the GI tract, called the lower GI tract, consists of the large intestinewhich includes the appendix, cecum, colon, and rectumand anus. The intestines are sometimes called the bowel. The large intestine is about 5 feet long in adults and absorbs water and any remaining nutrients from partially digested food passed from the small intestine. The large intestine changes waste from liquid to a solid matter called stool. Stool passes from the colon to the rectum. The rectum is located between the lower, or sigmoid, colon and the anus. The rectum stores stool prior to a bowel movement, when stool moves from the rectum to the anus and out of a person's body.
The National Institute of Neurological Disorders and Stroke, the Eunice Kennedy Shriver National Institute of Child Health and Human Development, and other institutes of the National Institutes of Health (NIH) conduct and/or support research related to Wilson disease. Growing knowledge of the copper transporting gene ATP7B, which in its mutated form causes WD, should lead to the design of better therapies for this disorder.
Fibrous dysplasia is a skeletal disorder that is characterized by the replacement of normal bone with fibrous bone tissue. It may involve one bone (monostotic) or multiple bones (polyostotic). Fibrous dysplasia can affect any bone in the body. The most common sites are the bones in the skull and face, the long bones in the arms and legs, the pelvis, and the ribs. Though many individuals with this condition do not have any symptoms, others may have bone pain, abnormally shaped bones, or an increased risk of fractures (broken bones). This condition can occur alone or as part of a genetic disorder, such as McCune-Albright syndrome. While there is no cure for fibrous dysplasia, the symptoms can be treated. Medications known as bisphosphonates can reduce pain and surgery may be indicated for fractures or to correct misshapen bones.
Congenital bilateral absence of the vas deferens (CBAVD) occurs in males when the tubes that carry sperm out of the testes (vas deferens) fail to develop properly. Although the testes usually develop and function normally, sperm cannot be transported through the vas deferens to become part of semen. As a result, men with this condition are unable to father children (infertile) unless they use assisted reproductive technologies. This condition has not been reported to affect sex drive or sexual performance. This condition can occur alone or as a sign of cystic fibrosis, an inherited disease of the mucus glands. Many men with CBAVD do not have the other characteristic features of cystic fibrosis; however, some men with this condition may experience mild respiratory or digestive problems.
Aspartylglucosaminuria is estimated to affect 1 in 18,500 people in Finland. This condition is less common outside of Finland, but the incidence is unknown.
How might mitochondrial neurogastrointestinal encephalopathy syndrome be treated? References John M Shoffner. Mitochondrial Neurogastrointestinal Encephalopathy Disease. GeneReviews. May 11, 2010; http://www.ncbi.nlm.nih.gov/books/NBK1179/. Accessed 3/27/2011.
Scientists don't know exactly what causes prostate cancer. They cannot explain why one man gets prostate cancer and another does not. However, they have been able to identify some risk factors that are associated with the disease. A risk factor is anything that increases your chances of getting a disease. Age Age is the most important risk factor for prostate cancer. The disease is extremely rare in men under age 40, but the risk increases greatly with age. More than 60 percent of cases are diagnosed in men over age 65. The average age at the time of diagnosis is 65. Race Race is another major risk factor. In the United States, this disease is much more common in African American men than in any other group of men. It is least common in Asian and American Indian men. Family History A man's risk for developing prostate cancer is higher if his father or brother has had the disease. Other Risk Factors Scientists have wondered whether obesity, lack of exercise, smoking, radiation exposure, might increase risk. But at this time, there is no firm evidence that these factors contribute to an increased risk.
What causes Hallermann-Streiff syndrome? The genetic cause of Hallerman-Streiff syndrome has not been identified. It reportedly typically occurs randomly for unknown reasons (sporadically), most likely due to a new spontaneous (de novo) mutation in the affected individual.
Ring chromosome 20 syndrome is caused by a chromosomal abnormality known as a ring chromosome 20 or r(20). A ring chromosome is a circular structure that occurs when a chromosome breaks in two places and its broken ends fuse together. People with ring chromosome 20 syndrome have one copy of this abnormal chromosome in some or all of their cells. It is not well understood how the ring chromosome causes the signs and symptoms of this syndrome. In some affected individuals, genes near the ends of chromosome 20 are deleted when the ring chromosome forms. Researchers suspect that the loss of these genes may be responsible for epilepsy and other health problems. However, other affected individuals do not have gene deletions associated with the ring chromosome. In these people, the ring chromosome may change the activity of certain genes on chromosome 20, or it may be unable to copy (replicate) itself normally during cell division. Researchers are still working to determine the precise relationship between the ring chromosome 20 and the characteristic features of the syndrome.
There is no cure for CMT, but physical therapy, occupational therapy, braces and other orthopedic devices, and orthopedic surgery can help people cope with the disabling symptoms of the disease. In addition, pain-killing drugs can be prescribed for patients who have severe pain.
Mucopolysaccharidosis type IIID (MPS IIID) is an genetic disorder that makes the body unable to break down large sugar molecules called glycosaminoglycans (GAGs, formerly called mucopolysaccharides). Specifically, people with this condition are unable to break down a GAG called heparan sulfate. Affected individuals can have severe neurological symptoms, including progressive dementia, aggressive behavior, hyperactivity, seizures, deafness, loss of vision, and an inability to sleep for more than a few hours at a time. MPS IIID is caused by the missing or deficient enzyme N-acetylglucosamine 6-sulfatase. MPS IIID is inherited in an autosomal recessive manner. There is no specific treatment for this condition. Most people with MPS IIID live into their teenage years, and some live longer.
These resources address the diagnosis or management of neutral lipid storage disease with myopathy: - Genetic Testing Registry: Neutral lipid storage disease with myopathy - MedlinePlus Encyclopedia: Hypothyroidism - MedlinePlus Encyclopedia: Type 2 Diabetes 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
Limb-girdle muscular dystrophy can have different inheritance patterns. Most forms of this condition are inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Several rare forms of limb-girdle muscular dystrophy are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
Primary hyperoxaluria is estimated to affect 1 in 58,000 individuals worldwide. Type 1 is the most common form, accounting for approximately 80 percent of cases. Types 2 and 3 each account for about 10 percent of cases.
What are the signs and symptoms of Cataract, posterior polar, 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Cataract, posterior polar, 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Posterior polar cataract 12/12 Autosomal dominant inheritance - Choroideremia - Congenital cataract - Myopia - Total cataract - 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.
Legionnaires' disease is a type of pneumonia caused by bacteria. You usually get it by breathing in mist from water that contains the bacteria. The mist may come from hot tubs, showers, or air-conditioning units for large buildings. The bacteria don't spread from person to person. Symptoms of Legionnaires' disease include high fever, chills, a cough, and sometimes muscle aches and headaches. Other types of pneumonia have similar symptoms. You will probably need a chest x-ray to diagnose the pneumonia. Lab tests can detect the specific bacteria that cause Legionnaires' disease. Most people exposed to the bacteria do not become sick. You are more likely to get sick if you - Are older than 50 - Smoke - Have a chronic lung disease - Have a weak immune system Legionnaires' disease is serious and can be life-threatening. However, most people recover with antibiotic treatment. Centers for Disease Control and Prevention
Best vitelliform macular dystrophy (BVMD) is a slowly progressive form of macular degeneration. It usually begins in childhood or adolescence, but age of onset and severity of vision loss can vary. Affected people first have normal vision, followed by decreased central visual acuity and distorted vision (metamorphopsia). Peripheral vision is not affected. BVMD is usually inherited in an autosomal dominant manner, but autosomal recessive inheritance has been reported. The condition is typically caused by mutations in the BEST1 gene; in a few cases the cause is unknown. Treatment is symptomatic and involves the use of low vision aids.
Tarlov cysts are sacs filled with cerebrospinal fluid that most often affect nerve roots in the sacrum, the group of bones at the base of the spine. These cysts (also known as meningeal or perineural cysts) can compress nerve roots, causing lower back pain, sciatica (shock-like or burning pain in the lower back, buttocks, and down one leg to below the knee), urinary incontinence, headaches (due to changes in cerebrospinal fluid pressure), constipation, sexual dysfunction, and some loss of feeling or control of movement in the leg and/or foot. Pressure on the nerves next to the cysts can also cause pain and deterioration of surrounding bone. Tarlov cysts can be diagnosed using magnetic resonance imaging (MRI); however, it is estimated that the majority of the cysts observed by MRI cause no symptoms. Tarlov cysts may become symptomatic following shock, trauma, or exertion that causes the buildup of cerebrospinal fluid. Women are at much higher risk of developing these cysts than are men.
What causes autoimmune hemolytic anemia? In about half of cases, the cause of autoimmune hemolytic anemia cannot be determined (idiopathic or primary). This condition can also be caused by or occur with another disorder (secondary) or rarely, occur following the use of certain drugs (such as penicillin) or after a person has a blood and marrow stem cell transplant. Secondary causes of autoimmune hemolytic anemia include: Autoimmune diseases, such as lupus Chronic lymphocytic leukemia Non-Hodgkin's lymphoma and other blood cancers Epstein-Barr virus Cytomegalovirus Mycoplasma pneumonia Hepatitis HIV
Neurofibromatosis (NF) is a genetic condition that causes tumors to develop in the nervous system. There are three types of neurofibromatosis that are each associated with unique signs and symptoms: Neurofibromatosis type 1 (NF1) causes skin changes (cafe-au-lait spots, freckling in armpit and groin area); bone abnormalities; optic gliomas; and tumors on the nerve tissue or under the skin. Signs and symptoms are usually present at birth. Neurofibromatosis type 2 (NF2) causes acoustic neuromas; hearing loss; ringing in the ears; poor balance; brain and/or spinal tumors; and cataracts at a young age. It often starts in the teen years. Schwannomatosis causes schwannomas, pain, numbness, and weakness. It is the rarest type. All three types of NF are inherited in an autosomal dominant manner. There is no cure for neurofibromatosis. Treatment is aimed at controlling symptoms and may include surgery to remove tumors, radiation therapy and/or medicines.
AMP deaminase deficiency is one of the most common inherited muscle disorders in white populations, affecting 1 in 50 to 100 people. The prevalence is lower in African Americans, affecting an estimated 1 in 40,000 people, and the condition is even less common in the Japanese population.
There is no cure or standard treatment for anencephaly. Treatment is supportive.
X-linked sideroblastic anemia is an inherited disorder that prevents developing red blood cells (erythroblasts) from making enough hemoglobin. People with X-linked sideroblastic anemia have mature red blood cells that are smaller than normal (microcytic) and appear pale (hypochromic) because of the shortage of hemoglobin. This disorder also leads to an abnormal accumulation of iron in red blood cells. The iron-loaded erythroblasts, which are present in bone marrow, are called ring sideroblasts. These abnormal cells give the condition its name. The signs and symptoms of X-linked sideroblastic anemia result from a combination of reduced hemoglobin and an overload of iron. They range from mild to severe and most often appear in young adulthood. Common features include fatigue, dizziness, a rapid heartbeat, pale skin, and an enlarged liver and spleen (hepatosplenomegaly). Over time, severe medical problems such as heart disease and liver damage (cirrhosis) can result from the buildup of excess iron in these organs. X-linked sideroblastic anemia is caused by mutation in the ALAS2 gene. In rare cases, mutations are found in both the HFE gene and the ALAS2 gene, resulting in a more severe form of X-linked sideroblastic anemia. X-linked sideroblastic anemia is inherited in an X-linked recessive pattern.
Winchester syndrome is a rare condition whose prevalence is unknown. It has been reported in only a few individuals worldwide.
Histiocytosis-lymphadenopathy plus syndrome is a rare disorder, affecting approximately 100 individuals worldwide.
For information about the clinical trial on this topic, visit: http://www.clinicaltrials.gov/ct/show/NCT00372320?order=1. If you would like to read an interview with Dr. Bruce Baum, the study's principal investigator, click on: http://www.nidcr.nih.gov/Research/ ResearchResults/InterviewsOHR/TIS032007.htm.
Summary : Caregivers provide help to another person in need. The person receiving care may be an adult - often a parent or a spouse - or a child with special medical needs. Some caregivers are family members. Others are paid. They do many things: - Shop for food and cook - Clean the house - Pay bills - Give medicine - Help the person go to the toilet, bathe and dress - Help the person eat - Provide company and emotional support Caregiving is hard, and caregivers of chronically ill people often feel stress. They are "on call" 24 hours a day, 7 days a week. If you're caring for someone with mental problems like Alzheimer's disease it can be especially difficult. Support groups can help. Dept. of Health and Human Services Office on Women's Health
Lactose intolerance in infancy resulting from congenital lactase deficiency is a rare disorder. Its incidence is unknown. This condition is most common in Finland, where it affects an estimated 1 in 60,000 newborns. Approximately 65 percent of the human population has a reduced ability to digest lactose after infancy. Lactose intolerance in adulthood is most prevalent in people of East Asian descent, affecting more than 90 percent of adults in some of these communities. Lactose intolerance is also very common in people of West African, Arab, Jewish, Greek, and Italian descent. The prevalence of lactose intolerance is lowest in populations with a long history of dependence on unfermented milk products as an important food source. For example, only about 5 percent of people of Northern European descent are lactose intolerant.
Childhood myocerebrohepatopathy spectrum, commonly called MCHS, is part of a group of conditions called the POLG-related disorders. The conditions in this group feature a range of similar signs and symptoms involving muscle-, nerve-, and brain-related functions. MCHS typically becomes apparent in children from a few months to 3 years old. People with this condition usually have problems with their muscles (myo-), brain (cerebro-), and liver (hepato-). Common signs and symptoms of MCHS include muscle weakness (myopathy), developmental delay or a deterioration of intellectual function, and liver disease. Another possible sign of this condition is a toxic buildup of lactic acid in the body (lactic acidosis). Often, affected children are unable to gain weight and grow at the expected rate (failure to thrive). Additional signs and symptoms of MCHS can include a form of kidney disease called renal tubular acidosis, inflammation of the pancreas (pancreatitis), recurrent episodes of nausea and vomiting (cyclic vomiting), or hearing loss.
What causes autoimmune atrophic gastritis? Autoimmune atrophic gastritis is considered an autoimmune disorder. In people who are affected by this condition, the immune system mistakenly attacks the healthy cells of the stomach lining. Overtime, this can wear away the stomach's protective barrier and interfere with the absorption of several key vitamins (i.e. vitamin B12, iron, folate). This leads to the signs and symptoms of autoimmune atrophic gastritis.
Is bilateral perisylvian polymicrogyria inherited? In most cases, bilateral perisylvian polymicrogyria (BPP) occurs sporadically in people with no family history of the condition. Rarely, more than one family member may be affected by BPP. These cases may follow an autosomal dominant, autosomal recessive, or X-linked pattern of inheritance.
People at risk for artherosclerosis are also at risk for RAS. Risk factors for RAS caused by artherosclerosis include - high blood cholesterol levels - high blood pressure - smoking - insulin resistance - diabetes - being overweight or obese - lack of physical activity - a diet high in fat, cholesterol, sodium, and sugar - being a man older than 45 or a woman older than 55 - a family history of early heart disease The risk factors for RAS caused by FMD are unknown, but FMD is most common in women and people 25 to 50 years of age.3 FMD can affect more than one person in a family, indicating that it may be caused by an inherited gene.
Once dry AMD reaches the advanced stage, no form of treatment can prevent vision loss. However, treatment can delay and possibly prevent intermediate AMD from progressing to the advanced stage, in which vision loss occurs.
Meralgia paresthetica is a disorder characterized by tingling, numbness, and burning pain in the outer side of the thigh. The disorder is caused by compression of the lateral femoral cutaneous nerve, a sensory nerve to the skin, as it exits the pelvis. People with the disorder often notice a patch of skin that is sensitive to touch and sometimes painful. Meralgia paresthetica should not be associated with weakness or radiating pain from the back.
Pure autonomic failure is characterized by generalized autonomic failure without central nervous system (brain or spinal cord) involvement. The autonomic nervous system is the part of our bodies that controls involuntary actions, such as the widening or narrowing of our blood vessels. Failure of this system can cause a variety of symptoms. The most common symptom of pure autonomic failure is orthostatic hypotension. Other symptoms may include decreased sweating, heat intolerance, inability to empty the bladder, erectile dysfunction, incontinence or constipation, and pupil changes. The cause of this condition is usually unknown.
This condition is rare; only a few affected individuals have been reported worldwide.
Pontocerebellar hypoplasia type 2 (PCH2) is a rare condition that affects the development of the brain. Signs and symptoms vary but may include microcephaly, developmental delay with lack of voluntary motor development, intellectual disability and movement disorders (i.e. chorea, dystonia, and spasticity). Affected people may also experience dysphagia (difficulty swallowing), impaired vision, seizures and an inability to communicate. Children with this condition often pass away prior to age 10 years, although survival beyond age 20 years has been reported. PCH2 is caused by changes (mutations) in the TSEN54, TSEN2, TSEN34, or SEPSECS gene and is inherited in an autosomal recessive manner. Treatment is supportive and based on the signs and symptoms present in each person.
Physical dependence is a normal process that can happen to anyone taking a medication for a long time. It means that the body (including the brain) is adapting to the presence of the drug, and the person may require a higher dosage or a different medication to get relief; this condition is known as tolerance. They may also suffer from withdrawal or feel sick when they stop taking the medication abruptly. However, the symptoms of withdrawal can usually be prevented or managed by a physician, which is why it is so important to talk to a doctor before stopping a medication. Someone who is addicted to a drug may also be physically dependent on it, but rather than benefitting from the drugs effects, an addicted person will continue to get worse with continued or increasing drug abuse. An addicted person compulsively seeks and abuses drugs, despite their negative consequences.